WorldWideScience

Sample records for dyslipidemia alleles reveals

  1. Dyslipidemia

    DEFF Research Database (Denmark)

    Ipsen, David H.; Tveden-Nyborg, Pernille; Lykkesfeldt, Jens

    2016-01-01

    Purpose of Review Purpose of review: It is becoming increasingly clear that some obese individuals do not develop dyslipidemia and instead remain healthy, while some normal weight individuals become dyslipidemic and unhealthy. Recent Findings The present review examines the similarities and diffe......Purpose of Review Purpose of review: It is becoming increasingly clear that some obese individuals do not develop dyslipidemia and instead remain healthy, while some normal weight individuals become dyslipidemic and unhealthy. Recent Findings The present review examines the similarities...... and differences between healthy and unhealthy individuals with and without obesity and discusses putative underlying mechanisms of dyslipidemia. Summary The presence of dyslipidemia and compromised metabolic health in both lean and obese individuals suggests that the obese phenotype per se does not represent...... a main independent risk factor for the development of dyslipidemia and that dyslipidemia, rather than obesity, may be the driver of metabolic diseases. Notably, adipose tissue dysfunction and ectopic lipid deposition, in particular in the liver, seems a common trait of unhealthy individuals....

  2. Characterization of clinical and genetic risk factors associated with dyslipidemia after kidney transplantation.

    Science.gov (United States)

    Numakura, Kazuyuki; Kagaya, Hideaki; Yamamoto, Ryohei; Komine, Naoki; Saito, Mitsuru; Hiroshi, Tsuruta; Akihama, Susumu; Inoue, Takamitsu; Narita, Shintaro; Tsuchiya, Norihiko; Habuchi, Tomonori; Niioka, Takenori; Miura, Masatomo; Satoh, Shigeru

    2015-01-01

    We determined the prevalence of dyslipidemia in a Japanese cohort of renal allograft recipients and investigated clinical and genetic characteristics associated with having the disease. In total, 126 patients that received renal allograft transplants between February 2002 and August 2011 were studied, of which 44 recipients (34.9%) were diagnosed with dyslipidemia at 1 year after transplantation. Three clinical factors were associated with a risk of having dyslipidemia: a higher prevalence of disease observed among female than male patients (P = 0.021) and treatment with high mycophenolate mofetil (P = 0.012) and prednisolone (P = 0.023) doses per body weight at 28 days after transplantation. The genetic association between dyslipidemia and 60 previously described genetic polymorphisms in 38 putative disease-associated genes was analyzed. The frequency of dyslipidemia was significantly higher in patients with the glucocorticoid receptor (NR3C1) Bcl1 G allele than in those with the CC genotype (P = 0.001). A multivariate analysis revealed that the NR3C1 Bcl1 G allele was a significant risk factor for the prevalence of dyslipidemia (odds ratio = 4.6; 95% confidence interval = 1.8-12.2). These findings may aid in predicting a patient's risk of developing dyslipidemia.

  3. Characterization of Clinical and Genetic Risk Factors Associated with Dyslipidemia after Kidney Transplantation

    Science.gov (United States)

    Numakura, Kazuyuki; Kagaya, Hideaki; Yamamoto, Ryohei; Komine, Naoki; Saito, Mitsuru; Hiroshi, Tsuruta; Akihama, Susumu; Narita, Shintaro; Tsuchiya, Norihiko; Habuchi, Tomonori; Niioka, Takenori; Miura, Masatomo; Satoh, Shigeru

    2015-01-01

    We determined the prevalence of dyslipidemia in a Japanese cohort of renal allograft recipients and investigated clinical and genetic characteristics associated with having the disease. In total, 126 patients that received renal allograft transplants between February 2002 and August 2011 were studied, of which 44 recipients (34.9%) were diagnosed with dyslipidemia at 1 year after transplantation. Three clinical factors were associated with a risk of having dyslipidemia: a higher prevalence of disease observed among female than male patients (P = 0.021) and treatment with high mycophenolate mofetil (P = 0.012) and prednisolone (P = 0.023) doses per body weight at 28 days after transplantation. The genetic association between dyslipidemia and 60 previously described genetic polymorphisms in 38 putative disease-associated genes was analyzed. The frequency of dyslipidemia was significantly higher in patients with the glucocorticoid receptor (NR3C1) Bcl1 G allele than in those with the CC genotype (P = 0.001). A multivariate analysis revealed that the NR3C1 Bcl1 G allele was a significant risk factor for the prevalence of dyslipidemia (odds ratio = 4.6; 95% confidence interval = 1.8–12.2). These findings may aid in predicting a patient's risk of developing dyslipidemia. PMID:25944971

  4. Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity.

    Science.gov (United States)

    King, Elizabeth G; Sanderson, Brian J; McNeil, Casey L; Long, Anthony D; Macdonald, Stuart J

    2014-05-01

    Modern genetic mapping is plagued by the "missing heritability" problem, which refers to the discordance between the estimated heritabilities of quantitative traits and the variance accounted for by mapped causative variants. One major potential explanation for the missing heritability is allelic heterogeneity, in which there are multiple causative variants at each causative gene with only a fraction having been identified. The majority of genome-wide association studies (GWAS) implicitly assume that a single SNP can explain all the variance for a causative locus. However, if allelic heterogeneity is prevalent, a substantial amount of genetic variance will remain unexplained. In this paper, we take a haplotype-based mapping approach and quantify the number of alleles segregating at each locus using a large set of 7922 eQTL contributing to regulatory variation in the Drosophila melanogaster female head. Not only does this study provide a comprehensive eQTL map for a major community genetic resource, the Drosophila Synthetic Population Resource, but it also provides a direct test of the allelic heterogeneity hypothesis. We find that 95% of cis-eQTLs and 78% of trans-eQTLs are due to multiple alleles, demonstrating that allelic heterogeneity is widespread in Drosophila eQTL. Allelic heterogeneity likely contributes significantly to the missing heritability problem common in GWAS studies.

  5. Genetic dissection of the Drosophila melanogaster female head transcriptome reveals widespread allelic heterogeneity.

    Directory of Open Access Journals (Sweden)

    Elizabeth G King

    2014-05-01

    Full Text Available Modern genetic mapping is plagued by the "missing heritability" problem, which refers to the discordance between the estimated heritabilities of quantitative traits and the variance accounted for by mapped causative variants. One major potential explanation for the missing heritability is allelic heterogeneity, in which there are multiple causative variants at each causative gene with only a fraction having been identified. The majority of genome-wide association studies (GWAS implicitly assume that a single SNP can explain all the variance for a causative locus. However, if allelic heterogeneity is prevalent, a substantial amount of genetic variance will remain unexplained. In this paper, we take a haplotype-based mapping approach and quantify the number of alleles segregating at each locus using a large set of 7922 eQTL contributing to regulatory variation in the Drosophila melanogaster female head. Not only does this study provide a comprehensive eQTL map for a major community genetic resource, the Drosophila Synthetic Population Resource, but it also provides a direct test of the allelic heterogeneity hypothesis. We find that 95% of cis-eQTLs and 78% of trans-eQTLs are due to multiple alleles, demonstrating that allelic heterogeneity is widespread in Drosophila eQTL. Allelic heterogeneity likely contributes significantly to the missing heritability problem common in GWAS studies.

  6. Atherogenic dyslipidemia

    Directory of Open Access Journals (Sweden)

    C N Manjunath

    2013-01-01

    Full Text Available Atherogenic dyslipidemia (AD refers to elevated levels of triglycerides (TG and small-dense low-density lipoprotein and low levels of high-density lipoprotein cholesterol (HDL-C. In addition, elevated levels of large TG rich very low-density lipoproteins, apolipoprotein B and oxidised low-density lipoprotein (LDL, and reduced levels of small high-density lipoproteins plays a critical role in AD. All three elements of AD per se have been recognised as independent risk factor for cardiovascular disease. LDL-C/HDL-C ratio has shown excellent risk prediction of coronary heart disease than either of the two risk markers. Asian Indians have a higher prevalence of AD than western population due to higher physical inactivity, low exercise and diet deficient in polyunsaturated fatty acids (PUFA. The AD can be well managed by therapeutic lifestyle changes with increased physical activities, regular exercise, and diets low in carbohydrates and high in PUFA such as omega-3-fatty acids, as the primary intervention. This can be supplemented drug therapies such as statin monotherapy or combination therapy with niacin/fibrates. Rosuvastatin is the only statin, presently available, to effectively treat AD in diabetes and MS patients.

  7. Structural Analysis of Insulin Minisatellite Alleles Reveals Unusually Large Differences in Diversity between Africans and Non-Africans

    Science.gov (United States)

    Stead, John D. H.; Jeffreys, Alec J.

    2002-01-01

    The insulin minisatellite (INS VNTR) associates with susceptibility to a variety of diseases. We have developed a high-resolution system for analyzing variant repeat distributions applicable to all known minisatellite alleles, irrespective of size, which allows lineages of related alleles to be identified. This system has previously revealed extremely low structural diversity in the minisatellite among northern Europeans from the United Kingdom, with all alleles belonging to one of only three highly diverged lineages called “I,” “IIIA,” and “IIIB.” To explore the origins of this remarkably limited lineage diversity, we have characterized an additional 780 alleles from three non-African and three African populations. In total, 22 highly diverged lineages were identified, with structural intermediates absent from extant populations, suggesting a bottleneck within the ancestry of all humans. The difference between levels of diversity in Africans and non-Africans is unusually large, with all 22 lineages identified in Africa compared with only three lineages seen not only in the United Kingdom but also in the other non-African populations. We also find evidence for overrepresentation of lineage I chromosomes in non-Africans. These data are consistent with a common out-of-Africa origin and an unusually tight bottleneck within the ancestry of all non-African populations, possibly combined with differential and positive selection for lineage I alleles in non-Africans. The important implications of these data for future disease-association studies are discussed. PMID:12404181

  8. Tumor transcriptome sequencing reveals allelic expression imbalances associated with copy number alterations.

    Directory of Open Access Journals (Sweden)

    Brian B Tuch

    Full Text Available Due to growing throughput and shrinking cost, massively parallel sequencing is rapidly becoming an attractive alternative to microarrays for the genome-wide study of gene expression and copy number alterations in primary tumors. The sequencing of transcripts (RNA-Seq should offer several advantages over microarray-based methods, including the ability to detect somatic mutations and accurately measure allele-specific expression. To investigate these advantages we have applied a novel, strand-specific RNA-Seq method to tumors and matched normal tissue from three patients with oral squamous cell carcinomas. Additionally, to better understand the genomic determinants of the gene expression changes observed, we have sequenced the tumor and normal genomes of one of these patients. We demonstrate here that our RNA-Seq method accurately measures allelic imbalance and that measurement on the genome-wide scale yields novel insights into cancer etiology. As expected, the set of genes differentially expressed in the tumors is enriched for cell adhesion and differentiation functions, but, unexpectedly, the set of allelically imbalanced genes is also enriched for these same cancer-related functions. By comparing the transcriptomic perturbations observed in one patient to his underlying normal and tumor genomes, we find that allelic imbalance in the tumor is associated with copy number mutations and that copy number mutations are, in turn, strongly associated with changes in transcript abundance. These results support a model in which allele-specific deletions and duplications drive allele-specific changes in gene expression in the developing tumor.

  9. Normal Weight Dyslipidemia

    DEFF Research Database (Denmark)

    Ipsen, David Hojland; Tveden-Nyborg, Pernille; Lykkesfeldt, Jens

    2016-01-01

    Objective: The liver coordinates lipid metabolism and may play a vital role in the development of dyslipidemia, even in the absence of obesity. Normal weight dyslipidemia (NWD) and patients with nonalcoholic fatty liver disease (NAFLD) who do not have obesity constitute a unique subset...... of individuals characterized by dyslipidemia and metabolic deterioration. This review examined the available literature on the role of the liver in dyslipidemia and the metabolic characteristics of patients with NAFLD who do not have obesity. Methods: PubMed was searched using the following keywords: nonobese......, dyslipidemia, NAFLD, NWD, liver, and metabolically obese/unhealthy normal weight. Additionally, article bibliographies were screened, and relevant citations were retrieved. Studies were excluded if they had not measured relevant biomarkers of dyslipidemia. Results: NWD and NAFLD without obesity share a similar...

  10. Diabetes, Dyslipidemia, and Heart Protection

    Science.gov (United States)

    Fact Sheet Diabetes, Dyslipidemia, and Heart Protection What is dyslipidemia? Cholesterol and triglycerides, known as lipids, are fatty substances that the body normally produces. Dyslipidemia means that lipid levels ...

  11. Short alleles revealed by PCR demonstrate no heterozygote deficiency at minisatellite loci D1S7, D7S21, and D12S11

    Energy Technology Data Exchange (ETDEWEB)

    Alonso, S.; Castro, A.; Fernandez-Fernandez, I.; Pancorbo, M.M. de [Universidad del Pais Vasco, Vizcaya (Spain)

    1997-02-01

    Short VNTR alleles that go undetected after conventional Southern blot hybridization may constitute an alternative explanation for the heterozygosity deficiency observed at some minisatellite loci. To examine this hypothesis, we have employed a screening procedure based on PCR amplification of those individuals classified as homozygotes in our databases for the loci D1S7, D7S21, and D12S11. The results obtained indicate that the frequency of these short alleles is related to the heterozygosity deficiency observed. For the most polymorphic locus, D1S7, {approximately}60% of those individuals previously classified as homozygotes were in fact heterozygotes for a short allele. After the inclusion of these new alleles, the agreement between observed and expected heterozygosity, along with other statistical tests employed, provide additional evidence for lack of population substructuring. Comparisons of allele frequency distributions reveal greater differences between racial groups than between closely related populations. 45 refs., 3 figs., 6 tabs.

  12. Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

    Science.gov (United States)

    Lalonde, Emilie; Albrecht, Steffen; Ha, Kevin C H; Jacob, Karine; Bolduc, Nathalie; Polychronakos, Constantin; Dechelotte, Pierre; Majewski, Jacek; Jabado, Nada

    2010-08-01

    Protein coding genes constitute approximately 1% of the human genome but harbor 85% of the mutations with large effects on disease-related traits. Therefore, efficient strategies for selectively sequencing complete coding regions (i.e., "whole exome") have the potential to contribute our understanding of human diseases. We used a method for whole-exome sequencing coupling Agilent whole-exome capture to the Illumina DNA-sequencing platform, and investigated two unrelated fetuses from nonconsanguineous families with Fowler Syndrome (FS), a stereotyped phenotype lethal disease. We report novel germline mutations in feline leukemia virus subgroup C cellular-receptor-family member 2, FLVCR2, which has recently been shown to cause FS. Using this technology, we identified three types of genetic abnormalities: point-mutations, insertions-deletions, and intronic splice-site changes (first pathogenic report using this technology), in the fetuses who both were compound heterozygotes for the disease. Although revealing a high level of allelic heterogeneity and mutational spectrum in FS, this study further illustrates the successful application of whole-exome sequencing to uncover genetic defects in rare Mendelian disorders. Of importance, we show that we can identify genes underlying rare, monogenic and recessive diseases using a limited number of patients (n=2), in the absence of shared genetic heritage and in the presence of allelic heterogeneity.

  13. A Δ11 desaturase gene genealogy reveals two divergent allelic classes within the European corn borer (Ostrinia nubilalis

    Directory of Open Access Journals (Sweden)

    Harrison Richard G

    2010-04-01

    Full Text Available Abstract Background Moth pheromone mating systems have been characterized at the molecular level, allowing evolutionary biologists to study how changes in protein sequence or gene expression affect pheromone phenotype, patterns of mating, and ultimately, the formation of barriers to gene exchange. Recent studies of Ostrinia pheromones have focused on the diversity of sex pheromone desaturases and their role in the specificity of pheromone production. Here we produce a Δ11 desaturase genealogy within Ostrinia nubilalis. We ask what has been the history of this gene, and whether this history suggests that changes in Δ11 desaturase have been involved in the divergence of the E and Z O. nubilalis pheromone strains. Results The Δ11 desaturase gene genealogy does not differentiate O. nubilalis pheromone strains. However, we find two distinct clades, separated by 2.9% sequence divergence, that do not sort with pheromone strain, geographic origin, or emergence time. We demonstrate that these clades do not represent gene duplicates, but rather allelic variation at a single gene locus. Conclusions Analyses of patterns of variation at the Δ11 desaturase gene in ECB suggest that this enzyme does not contribute to reproductive isolation between pheromone strains (E and Z. However, our genealogy reveals two deeply divergent allelic classes. Standing variation at loci that contribute to mate choice phenotypes may permit novel pheromone mating systems to arise in the presence of strong stabilizing selection.

  14. Lineage tracing of genome-edited alleles reveals high fidelity axolotl limb regeneration.

    Science.gov (United States)

    Flowers, Grant Parker; Sanor, Lucas D; Crews, Craig M

    2017-09-16

    Salamanders are unparalleled among tetrapods in their ability to regenerate many structures, including entire limbs, and the study of this ability may provide insights into human regenerative therapies. The complex structure of the limb poses challenges to the investigation of the cellular and molecular basis of its regeneration. Using CRISPR/Cas, we genetically labelled unique cell lineages within the developing axolotl embryo and tracked the frequency of each lineage within amputated and fully regenerated limbs. This allowed us, for the first time, to assess the contributions of multiple low frequency cell lineages to the regenerating limb at once. Our comparisons reveal that regenerated limbs are high fidelity replicas of the originals even after repeated amputations.

  15. Characterization of a null allelic mutant of the rice NAL1 gene reveals its role in regulating cell division.

    Directory of Open Access Journals (Sweden)

    Dan Jiang

    Full Text Available Leaf morphology is closely associated with cell division. In rice, mutations in Narrow leaf 1 (NAL1 show narrow leaf phenotypes. Previous studies have shown that NAL1 plays a role in regulating vein patterning and increasing grain yield in indica cultivars, but its role in leaf growth and development remains unknown. In this report, we characterized two allelic mutants of NARROW LEAF1 (NAL1, nal1-2 and nal1-3, both of which showed a 50% reduction in leaf width and length, as well as a dwarf culm. Longitudinal and transverse histological analyses of leaves and internodes revealed that cell division was suppressed in the anticlinal orientation but enhanced in the periclinal orientation in the mutants, while cell size remained unaltered. In addition to defects in cell proliferation, the mutants showed abnormal midrib in leaves. Map-based cloning revealed that nal1-2 is a null allelic mutant of NAL1 since both the whole promoter and a 404-bp fragment in the first exon of NAL1 were deleted, and that a 6-bp fragment was deleted in the mutant nal1-3. We demonstrated that NAL1 functions in the regulation of cell division as early as during leaf primordia initiation. The altered transcript level of G1- and S-phase-specific genes suggested that NAL1 affects cell cycle regulation. Heterogeneous expression of NAL1 in fission yeast (Schizosaccharomyces pombe further supported that NAL1 affects cell division. These results suggest that NAL1 controls leaf width and plant height through its effects on cell division.

  16. Dyslipidemia in Dermatological Disorders

    Science.gov (United States)

    Shenoy, Chetana; Shenoy, Manjunath Mala; Rao, Gururaja K.

    2015-01-01

    Dyslipidemias are one of the common metabolic disorders. A link between dermatological disorders like psoriasis and dyslipidemia has been established in the recent past. Many dermatological disorders could have a systemic inflammatory component which explains such association. Chronic inflammatory dermatological disorders could also have other metabolic imbalances that may contribute to dyslipidemia. Presence of such abnormal metabolism may justify routine screening of these disorders for associated dyslipidemia and other metabolic abnormalities and early treatment of such comorbidities to improve quality of life. Some of the drugs used by dermatologists such as retinoids are also likely to be a cause of dyslipidemia. Hence, it is imperative that the dermatologists obtain scientific knowledge on the underlying mechanisms involved in dyslipidemia and understand when to intervene with therapies. A systematic review of the English language literature was done by using Google Scholar and PubMed. In this review, attempts are made to list the dermatological disorders associated with dyslipidemia; to simplify the understanding of underlying mechanisms; and to give a brief idea about the interventions. PMID:26713286

  17. Variant allele frequency enrichment analysis in vitro reveals sonic hedgehog pathway to impede sustained temozolomide response in GBM.

    Science.gov (United States)

    Biswas, Nidhan K; Chandra, Vikas; Sarkar-Roy, Neeta; Das, Tapojyoti; Bhattacharya, Rabindra N; Tripathy, Laxmi N; Basu, Sunandan K; Kumar, Shantanu; Das, Subrata; Chatterjee, Ankita; Mukherjee, Ankur; Basu, Pryiadarshi; Maitra, Arindam; Chattopadhyay, Ansuman; Basu, Analabha; Dhara, Surajit

    2015-01-21

    Neoplastic cells of Glioblastoma multiforme (GBM) may or may not show sustained response to temozolomide (TMZ) chemotherapy. We hypothesize that TMZ chemotherapy response in GBM is predetermined in its neoplastic clones via a specific set of mutations that alter relevant pathways. We describe exome-wide enrichment of variant allele frequencies (VAFs) in neurospheres displaying contrasting phenotypes of sustained versus reversible TMZ-responses in vitro. Enrichment of VAFs was found on genes ST5, RP6KA1 and PRKDC in cells showing sustained TMZ-effect whereas on genes FREM2, AASDH and STK36, in cells showing reversible TMZ-effect. Ingenuity pathway analysis (IPA) revealed that these genes alter cell-cycle, G2/M-checkpoint-regulation and NHEJ pathways in sustained TMZ-effect cells whereas the lysine-II&V/phenylalanine degradation and sonic hedgehog (Hh) pathways in reversible TMZ-effect cells. Next, we validated the likely involvement of the Hh-pathway in TMZ-response on additional GBM neurospheres as well as on GBM patients, by extracting RNA-sequencing-based gene expression data from the TCGA-GBM database. Finally, we demonstrated TMZ-sensitization of a TMZ non-responder neurosphere in vitro by treating them with the FDA-approved pharmacological Hh-pathway inhibitor vismodegib. Altogether, our results indicate that the Hh-pathway impedes sustained TMZ-response in GBM and could be a potential therapeutic target to enhance TMZ-response in this malignancy.

  18. Next-generation sequencing can reveal in vitro-generated PCR crossover products: some artifactual sequences correspond to HLA alleles in the IMGT/HLA database.

    Science.gov (United States)

    Holcomb, C L; Rastrou, M; Williams, T C; Goodridge, D; Lazaro, A M; Tilanus, M; Erlich, H A

    2014-01-01

    The high-resolution human leukocyte antigen (HLA) genotyping assay that we developed using 454 sequencing and Conexio software uses generic polymerase chain reaction (PCR) primers for DRB exon 2. Occasionally, we observed low abundance DRB amplicon sequences that resulted from in vitro PCR 'crossing over' between DRB1 and DRB3/4/5. These hybrid sequences, revealed by the clonal sequencing property of the 454 system, were generally observed at a read depth of 5%-10% of the true alleles. They usually contained at least one mismatch with the IMGT/HLA database, and consequently, were easily recognizable and did not cause a problem for HLA genotyping. Sometimes, however, these artifactual sequences matched a rare allele and the automatic genotype assignment was incorrect. These observations raised two issues: (1) could PCR conditions be modified to reduce such artifacts? and (2) could some of the rare alleles listed in the IMGT/HLA database be artifacts rather than true alleles? Because PCR crossing over occurs during late cycles of PCR, we compared DRB genotypes resulting from 28 and (our standard) 35 cycles of PCR. For all 21 cell line DNAs amplified for 35 cycles, crossover products were detected. In 33% of the cases, these hybrid sequences corresponded to named alleles. With amplification for only 28 cycles, these artifactual sequences were not detectable. To investigate whether some rare alleles in the IMGT/HLA database might be due to PCR artifacts, we analyzed four samples obtained from the investigators who submitted the sequences. In three cases, the sequences were generated from true alleles. In one case, our 454 sequencing revealed an error in the previously submitted sequence. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. [Modern methods of diagnosis dyslipidemia ].

    Science.gov (United States)

    Sukhorukov, V N; Karagodin, V P; Orekhov, A N

    2016-01-01

    Dyslipidemia is abnormalities of lipid and lipoprotein metabolism. Most dyslipidemias are hyperlipidemias; that is an abnormally high level of lipids and/or lipoproteins in the blood. Lipid and lipoprotein abnormalities are common in the general population, and are regarded as a modifiable risk factor for cardiovascular disease due to their influence on atherosclerosis. Primary dyslipidemia is usually due to genetic causes, while secondary dyslipidemia arises due to other underlying causes such as diabetes mellitus. Thus, dyslipidemia is an important factor in the development of atherosclerosis and cardiovascular diseases therefore, it is important to diagnose it in time. This review focuses on the modern methods of diagnosis of dyslipidemia.

  20. GWAS analysis using interspecific backcross progenies reveals superior blue catfish alleles responsible for strong resistance against enteric septicemia of catfish.

    Science.gov (United States)

    Tan, Suxu; Zhou, Tao; Wang, Wenwen; Jin, Yulin; Wang, Xiaozhu; Geng, Xin; Luo, Jian; Yuan, Zihao; Yang, Yujia; Shi, Huitong; Gao, Dongya; Dunham, Rex; Liu, Zhanjiang

    2018-05-08

    Infectious diseases pose significant threats to the catfish industry. Enteric septicemia of catfish (ESC) caused by Edwardsiella ictaluri is the most devastating disease for catfish aquaculture, causing huge economic losses annually. Channel catfish and blue catfish exhibit great contrast in resistance against ESC, with channel catfish being highly susceptible and blue catfish being highly resistant. As such, the interspecific backcross progenies provide an ideal system for the identification of quantitative trait locus (QTL). We previously reported one significant QTL on linkage group (LG) 1 using the third-generation backcrosses, but the number of founders used to make the second- and third-generation backcross progenies was very small. Although the third-generation backcross progenies provided a greater power for fine mapping than the first-generation backcrosses, some major QTL for disease resistance may have been missing due to the small numbers of founders used to produce the higher generation backcrosses. In this study, we performed a genome-wide association study using first-generation backcrosses with the catfish 690 K SNP arrays to identify additional ESC disease resistance QTL, especially those at the species level. Two genomic regions on LG1 and LG23 were determined to be significantly associated with ESC resistance as revealed by a mixed linear model and family-based association test. Examination of the resistance alleles indicated their origin from blue catfish, indicating that at least two major disease resistance loci exist among blue catfish populations. Upon further validation, markers linked with major ESC disease resistance QTL should be useful for marker-assisted introgression, allowing development of highly ESC resistant breeds of catfish.

  1. Obesity and dyslipidemia

    NARCIS (Netherlands)

    Franssen, Remco; Monajemi, Houshang; Stroes, Erik S. G.; Kastelein, John J. P.

    2011-01-01

    Dyslipidemia associated with obesity and the metabolic syndrome is one of the central features contributing to the increased CV risk in these patients. In view of the pandemic of the metabolic syndrome, it is imperative to fully understand the mechanisms leading to the metabolic lipid phenotype

  2. Novel CRISPR/Cas9 gene drive constructs reveal insights into mechanisms of resistance allele formation and drive efficiency in genetically diverse populations.

    Directory of Open Access Journals (Sweden)

    Jackson Champer

    2017-07-01

    Full Text Available A functioning gene drive system could fundamentally change our strategies for the control of vector-borne diseases by facilitating rapid dissemination of transgenes that prevent pathogen transmission or reduce vector capacity. CRISPR/Cas9 gene drive promises such a mechanism, which works by converting cells that are heterozygous for the drive construct into homozygotes, thereby enabling super-Mendelian inheritance. Although CRISPR gene drive activity has already been demonstrated, a key obstacle for current systems is their propensity to generate resistance alleles, which cannot be converted to drive alleles. In this study, we developed two CRISPR gene drive constructs based on the nanos and vasa promoters that allowed us to illuminate the different mechanisms by which resistance alleles are formed in the model organism Drosophila melanogaster. We observed resistance allele formation at high rates both prior to fertilization in the germline and post-fertilization in the embryo due to maternally deposited Cas9. Assessment of drive activity in genetically diverse backgrounds further revealed substantial differences in conversion efficiency and resistance rates. Our results demonstrate that the evolution of resistance will likely impose a severe limitation to the effectiveness of current CRISPR gene drive approaches, especially when applied to diverse natural populations.

  3. Polygenic influences on dyslipidemias.

    Science.gov (United States)

    Dron, Jacqueline S; Hegele, Robert A

    2018-04-01

    Rare large-effect genetic variants underlie monogenic dyslipidemias, whereas common small-effect genetic variants - single nucleotide polymorphisms (SNPs) - have modest influences on lipid traits. Over the past decade, these small-effect SNPs have been shown to cumulatively exert consistent effects on lipid phenotypes under a polygenic framework, which is the focus of this review. Several groups have reported polygenic risk scores assembled from lipid-associated SNPs, and have applied them to their respective phenotypes. For lipid traits in the normal population distribution, polygenic effects quantified by a score that integrates several common polymorphisms account for about 20-30% of genetic variation. Among individuals at the extremes of the distribution, that is, those with clinical dyslipidemia, the polygenic component includes both rare variants with large effects and common polymorphisms: depending on the trait, 20-50% of susceptibility can be accounted for by this assortment of genetic variants. Accounting for polygenic effects increases the numbers of dyslipidemic individuals who can be explained genetically, but a substantial proportion of susceptibility remains unexplained. Whether documenting the polygenic basis of dyslipidemia will affect outcomes in clinical trials or prospective observational studies remains to be determined.

  4. Update on the molecular biology of dyslipidemias.

    Science.gov (United States)

    Ramasamy, I

    2016-02-15

    by genome wide association studies. Secondary factors, obesity, metabolic syndrome, diabetes, renal disease, estrogen and antipsychotics can increase the likelihood of clinical presentation of an individual with predisposed genetic susceptibility to hyperlipoproteinemia. The genetic profiles studied are far from complete and there is room for further characterization of genes influencing lipid levels. Genetic assessment can help identify patients at risk for developing dyslipidemias and for treatment decisions based on 'risk allele' profiles. This review will present the current information on the genetics and pathophysiology of disorders that cause dyslipidemias. Copyright © 2015 Elsevier B.V. All rights reserved.

  5. RNA-Seq using two populations reveals genes and alleles controlling wood traits and growth in Eucalyptus nitens.

    Directory of Open Access Journals (Sweden)

    Saravanan Thavamanikumar

    Full Text Available Eucalyptus nitens is a perennial forest tree species grown mainly for kraft pulp production in many parts of the world. Kraft pulp yield (KPY is a key determinant of plantation profitability and increasing the KPY of trees grown in plantations is a major breeding objective. To speed up the breeding process, molecular markers that can predict KPY are desirable. To achieve this goal, we carried out RNA-Seq studies on trees at extremes of KPY in two different trials to identify genes and alleles whose expression correlated with KPY. KPY is positively correlated with growth measured as diameter at breast height (DBH in both trials. In total, six RNA bulks from two treatments were sequenced on an Illumina HiSeq platform. At 5% false discovery rate level, 3953 transcripts showed differential expression in the same direction in both trials; 2551 (65% were down-regulated and 1402 (35% were up-regulated in low KPY samples. The genes up-regulated in low KPY trees were largely involved in biotic and abiotic stress response reflecting the low growth among low KPY trees. Genes down-regulated in low KPY trees mainly belonged to gene categories involved in wood formation and growth. Differential allelic expression was observed in 2103 SNPs (in 1068 genes and of these 640 SNPs (30% occurred in 313 unique genes that were also differentially expressed. These SNPs may represent the cis-acting regulatory variants that influence total gene expression. In addition we also identified 196 genes which had Ka/Ks ratios greater than 1.5, suggesting that these genes are under positive selection. Candidate genes and alleles identified in this study will provide a valuable resource for future association studies aimed at identifying molecular markers for KPY and growth.

  6. YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.

    Science.gov (United States)

    Chen, Chih-Yu; Shi, Wenqiang; Balaton, Bradley P; Matthews, Allison M; Li, Yifeng; Arenillas, David J; Mathelier, Anthony; Itoh, Masayoshi; Kawaji, Hideya; Lassmann, Timo; Hayashizaki, Yoshihide; Carninci, Piero; Forrest, Alistair R R; Brown, Carolyn J; Wasserman, Wyeth W

    2016-11-18

    Sex differences in susceptibility and progression have been reported in numerous diseases. Female cells have two copies of the X chromosome with X-chromosome inactivation imparting mono-allelic gene silencing for dosage compensation. However, a subset of genes, named escapees, escape silencing and are transcribed bi-allelically resulting in sexual dimorphism. Here we conducted in silico analyses of the sexes using human datasets to gain perspectives into such regulation. We identified transcription start sites of escapees (escTSSs) based on higher transcription levels in female cells using FANTOM5 CAGE data. Significant over-representations of YY1 transcription factor binding motif and ChIP-seq peaks around escTSSs highlighted its positive association with escapees. Furthermore, YY1 occupancy is significantly biased towards the inactive X (Xi) at long non-coding RNA loci that are frequent contacts of Xi-specific superloops. Our study suggests a role for YY1 in transcriptional activity on Xi in general through sequence-specific binding, and its involvement at superloop anchors.

  7. Segmental allotetraploidy and allelic interactions in buffelgrass (Pennisetum ciliare (L.) Link syn. Cenchrus ciliaris L.) as revealed by genome mapping.

    Science.gov (United States)

    Jessup, R W; Burson, B L; Burow, O; Wang, Y W; Chang, C; Li, Z; Paterson, A H; Hussey, M A

    2003-04-01

    Linkage analyses increasingly complement cytological and traditional plant breeding techniques by providing valuable information regarding genome organization and transmission genetics of complex polyploid species. This study reports a genome map of buffelgrass (Pennisetum ciliare (L.) Link syn. Cenchrus ciliaris L.). Maternal and paternal maps were constructed with restriction fragment length polymorphisms (RFLPs) segregating in 87 F1 progeny from an intraspecific cross between two heterozygous genotypes. A survey of 862 heterologous cDNAs and gDNAs from across the Poaceae, as well as 443 buffelgrass cDNAs, yielded 100 and 360 polymorphic probes, respectively. The maternal map included 322 RFLPs, 47 linkage groups, and 3464 cM, whereas the paternal map contained 245 RFLPs, 42 linkage groups, and 2757 cM. Approximately 70 to 80% of the buffelgrass genome was covered, and the average marker spacing was 10.8 and 11.3 cM on the respective maps. Preferential pairing was indicated between many linkage groups, which supports cytological reports that buffelgrass is a segmental allotetraploid. More preferential pairing (disomy) was found in the maternal than paternal parent across linkage groups (55 vs. 38%) and loci (48 vs. 15%). Comparison of interval lengths in 15 allelic bridges indicated significantly less meiotic recombination in paternal gametes. Allelic interactions were detected in four regions of the maternal map and were absent in the paternal map.

  8. Molecular footprints reveal the impact of the protective HLA-A*03 allele in hepatitis C virus infection.

    LENUS (Irish Health Repository)

    Fitzmaurice, Karen

    2012-02-01

    BACKGROUND AND AIMS: CD8 T cells are central to the control of hepatitis C virus (HCV) although the key features of a successful CD8 T cell response remain to be defined. In a cohort of Irish women infected by a single source, a strong association between viral clearance and the human lecucocyte (HLA)-A*03 allele has been described, and the aim of this study was to define the protective nature of the associated CD8 T cell response. METHODS: A sequence-led approach was used to identify HLA-A*03-restricted epitopes. We examine the CD8 T cell response associated with this gene and address the likely mechanism underpinning this protective effect in this special cohort, using viral sequencing, T cell assays and analysis of fitness of viral mutants. RESULTS: A strong \\'HLA footprint\\' in a novel NS3 epitope (TVYHGAGTK) was observed. A lysine (K) to arginine (R) substitution at position 9 (K1088R) was seen in a significant number of A*03-positive patients (9\\/12) compared with the control group (1\\/33, p=0.0003). Threonine (T) was also substituted with alanine (A) at position 8 (T1087A) more frequently in A*03-positive patients (6\\/12) compared with controls (2\\/33, p=0.01), and the double substitution of TK to AR was also observed predominantly in HLA-A*03-positive patients (p=0.004). Epitope-specific CD8 T cell responses were observed in 60% of patients three decades after exposure and the mutants selected in vivo impacted on recognition in vitro. Using HCV replicons matched to the viral sequences, viral fitness was found to be markedly reduced by the K1088R substitution but restored by the second substitution T1087A. CONCLUSIONS: It is proposed that at least part of the protective effect of HLA-A*03 results from targeting of this key epitope in a functional site: the requirement for two mutations to balance fitness and escape provides an initial host advantage. This study highlights the potential protective impact of common HLA-A alleles against persistent

  9. Prevalence and Risk Factors Associated with Dyslipidemia in Chongqing, China.

    Science.gov (United States)

    Qi, Li; Ding, Xianbin; Tang, Wenge; Li, Qin; Mao, Deqiang; Wang, Yulin

    2015-10-26

    The increasing prevalence of dyslipidemia has become a worldwide public health problem, and the prevalence varies widely according to socioeconomic, cultural and ethnic characteristics. Chongqing has experienced rapid economic development and is now the economic center of Southwestern China. There are scant data on serum lipid profile of residents in Chongqing, the largest municipality directly under the Central Government in China. We conducted a cross-sectional study in a representative sample of 5375 residents of Chongqing, aged ≥18 years, and estimated the prevalence of dyslipidemia and its associated risk factors. According to the National Cholesterol Education Program-Adult Treatment Panel III criteria, the age-standardized prevalence of dyslipidemia was 35.5% (34.4% among men and 37.6% among women). Among the 2009 patients with dyslipidemia, 44.2% had isolated hypertriglyceridemia, 14.7% had isolated hypercholesterolemia, 13.2% had mixed hyperlipidemia, and 28.0% had isolated low high-density lipoprotein cholesterol. The peak prevalence of dyslipidemia in men was between 30 and 39 years (48.2%), and then declined gradually; in women, the prevalence of dyslipidemia increased with age, with the peak prevalence occurring after age 60 (46.3%). Multivariable logistic regression analysis revealed that dyslipidemia was associated with age, education level, physical activity, obesity and central obesity for both men and women. In conclusion, the results indicated dyslipidemia, particularly hypertriglyceridemia and low high-density lipoprotein cholesterol, are very common in Chongqing. To prevent dyslipidemia, it is essential to conduct appropriate intervention programs aimed at risk factor reduction and implement routine screening programs for blood lipid levels in Chongqing, China.

  10. The glossyhead1 allele of acc1 reveals a principal role for multidomain acetyl-coenzyme a carboxylase in the biosynthesis of cuticular waxes by Arabidopsis

    KAUST Repository

    Lu, Shiyou

    2011-09-23

    A novel mutant of Arabidopsis (Arabidopsis thaliana), having highly glossy inflorescence stems, postgenital fusion in floral organs, and reduced fertility, was isolated from an ethyl methanesulfonate-mutagenized population and designated glossyhead1 (gsd1). The gsd1 locus was mapped to chromosome 1, and the causal gene was identified as a new allele of Acetyl-Coenzyme A Carboxylase1 (ACC1), a gene encoding the main enzyme in cytosolic malonyl-coenzyme A synthesis. This, to our knowledge, is the first mutant allele of ACC1 that does not cause lethality at the seed or early germination stage, allowing for the first time a detailed analysis of ACC1 function in mature tissues. Broad lipid profiling of mature gsd1 organs revealed a primary role for ACC1 in the biosynthesis of the very-long-chain fatty acids (C 20:0 or longer) associated with cuticular waxes and triacylglycerols. Unexpectedly, transcriptome analysis revealed that gsd1 has limited impact on any lipid metabolic networks but instead has a large effect on environmental stress-responsive pathways, especially senescence and ethylene synthesis determinants, indicating a possible role for the cytosolic malonyl-coenzyme A-derived lipids in stress response signaling. © 2011 American Society of Plant Biologists. All Rights Reserved.

  11. SCREENING LOW FREQUENCY SNPS FROM GENOME WIDE ASSOCIATION STUDY REVEALS A NEW RISK ALLELE FOR PROGRESSION TO AIDS

    Science.gov (United States)

    Le Clerc, Sigrid; Coulonges, Cédric; Delaneau, Olivier; Van Manen, Danielle; Herbeck, Joshua T.; Limou, Sophie; An, Ping; Martinson, Jeremy J.; Spadoni, Jean-Louis; Therwath, Amu; Veldink, Jan H.; van den Berg, Leonard H.; Taing, Lieng; Labib, Taoufik; Mellak, Safa; Montes, Matthieu; Delfraissy, Jean-François; Schächter, François; Winkler, Cheryl; Froguel, Philippe; Mullins, James I.; Schuitemaker, Hanneke; Zagury, Jean-François

    2011-01-01

    Background Seven genome-wide association studies (GWAS) have been published in AIDS and only associations in the HLA region on chromosome 6 and CXCR6 have passed genome-wide significance. Methods We reanalyzed the data from three previously published GWAS, targeting specifically low frequency SNPs (minor allele frequency (MAF)<5%). Two groups composed of 365 slow progressors (SP) and 147 rapid progressors (RP) from Europe and the US were compared with a control group of 1394 seronegative individuals using Eigenstrat corrections. Results Of the 8584 SNPs with MAF<5% in cases and controls (Bonferroni threshold=5.8×10−6), four SNPs showed statistical evidence of association with the SP phenotype. The best result was for HCP5 rs2395029 (p=8.54×10−15, OR=3.41) in the HLA locus, in partial linkage disequilibrium with two additional chromosome 6 associations in C6orf48 (p=3.03×10−10, OR=2.9) and NOTCH4 (9.08×10−07, OR=2.32). The fourth association corresponded to rs2072255 located in RICH2 (p=3.30×10−06, OR=0.43) in chromosome 17. Using HCP5 rs2395029 as a covariate, the C6orf48 and NOTCH4 signals disappeared, but the RICH2 signal still remained significant. Conclusion Besides the already known chromosome 6 associations, the analysis of low frequency SNPs brought up a new association in the RICH2 gene. Interestingly, RICH2 interacts with BST-2 known to be a major restriction factor for HIV-1 infection. Our study has thus identified a new candidate gene for AIDS molecular etiology and confirms the interest of singling out low frequency SNPs in order to exploit GWAS data. PMID:21107268

  12. Stochastic modelling of shifts in allele frequencies reveals a strongly polygynous mating system in the re-introduced Asiatic wild ass.

    Science.gov (United States)

    Renan, Sharon; Greenbaum, Gili; Shahar, Naama; Templeton, Alan R; Bouskila, Amos; Bar-David, Shirli

    2015-04-01

    Small populations are prone to loss of genetic variation and hence to a reduction in their evolutionary potential. Therefore, studying the mating system of small populations and its potential effects on genetic drift and genetic diversity is of high importance for their viability assessments. The traditional method for studying genetic mating systems is paternity analysis. Yet, as small populations are often rare and elusive, the genetic data required for paternity analysis are frequently unavailable. The endangered Asiatic wild ass (Equus hemionus), like all equids, displays a behaviourally polygynous mating system; however, the level of polygyny has never been measured genetically in wild equids. Combining noninvasive genetic data with stochastic modelling of shifts in allele frequencies, we developed an alternative approach to paternity analysis for studying the genetic mating system of the re-introduced Asiatic wild ass in the Negev Desert, Israel. We compared the shifts in allele frequencies (as a measure of genetic drift) that have occurred in the wild ass population since re-introduction onset to simulated scenarios under different proportions of mating males. We revealed a strongly polygynous mating system in which less than 25% of all males participate in the mating process each generation. This strongly polygynous mating system and its potential effect on the re-introduced population's genetic diversity could have significant consequences for the long-term persistence of the population in the Negev. The stochastic modelling approach and the use of allele-frequency shifts can be further applied to systems that are affected by genetic drift and for which genetic data are limited. © 2015 John Wiley & Sons Ltd.

  13. Exome Sequencing in Suspected Monogenic Dyslipidemias

    Science.gov (United States)

    Stitziel, Nathan O.; Peloso, Gina M.; Abifadel, Marianne; Cefalu, Angelo B.; Fouchier, Sigrid; Motazacker, M. Mahdi; Tada, Hayato; Larach, Daniel B.; Awan, Zuhier; Haller, Jorge F.; Pullinger, Clive R.; Varret, Mathilde; Rabès, Jean-Pierre; Noto, Davide; Tarugi, Patrizia; Kawashiri, Masa-aki; Nohara, Atsushi; Yamagishi, Masakazu; Risman, Marjorie; Deo, Rahul; Ruel, Isabelle; Shendure, Jay; Nickerson, Deborah A.; Wilson, James G.; Rich, Stephen S.; Gupta, Namrata; Farlow, Deborah N.; Neale, Benjamin M.; Daly, Mark J.; Kane, John P.; Freeman, Mason W.; Genest, Jacques; Rader, Daniel J.; Mabuchi, Hiroshi; Kastelein, John J.P.; Hovingh, G. Kees; Averna, Maurizio R.; Gabriel, Stacey; Boileau, Catherine; Kathiresan, Sekar

    2015-01-01

    Background Exome sequencing is a promising tool for gene mapping in Mendelian disorders. We utilized this technique in an attempt to identify novel genes underlying monogenic dyslipidemias. Methods and Results We performed exome sequencing on 213 selected family members from 41 kindreds with suspected Mendelian inheritance of extreme levels of low-density lipoprotein (LDL) cholesterol (after candidate gene sequencing excluded known genetic causes for high LDL cholesterol families) or high-density lipoprotein (HDL) cholesterol. We used standard analytic approaches to identify candidate variants and also assigned a polygenic score to each individual in order to account for their burden of common genetic variants known to influence lipid levels. In nine families, we identified likely pathogenic variants in known lipid genes (ABCA1, APOB, APOE, LDLR, LIPA, and PCSK9); however, we were unable to identify obvious genetic etiologies in the remaining 32 families despite follow-up analyses. We identified three factors that limited novel gene discovery: (1) imperfect sequencing coverage across the exome hid potentially causal variants; (2) large numbers of shared rare alleles within families obfuscated causal variant identification; and (3) individuals from 15% of families carried a significant burden of common lipid-related alleles, suggesting complex inheritance can masquerade as monogenic disease. Conclusions We identified the genetic basis of disease in nine of 41 families; however, none of these represented novel gene discoveries. Our results highlight the promise and limitations of exome sequencing as a discovery technique in suspected monogenic dyslipidemias. Considering the confounders identified may inform the design of future exome sequencing studies. PMID:25632026

  14. Linking Abdominal Obesity and Dyslipidemia

    Directory of Open Access Journals (Sweden)

    Pedro Enrique Miguel Soca

    2011-10-01

    Full Text Available Considering as a start point the discussion of an article published by this same journal (Finlay in its previous issue, this letter deals with some alterations associating abdominal obesity and dyslipidemia.

  15. Dyslipidemia in PCOS.

    Science.gov (United States)

    Wild, Robert A

    2012-03-10

    Life-long apolipoprotein lipid metabolic dysfunction in women with PCOS exaggerates the risk for cardiovascular disease (CVD) with aging. The dysfunction has involved insulin resistance (IR), which occurs in most women with PCOS. Women with PCOS have androgen excess, IR, variable amounts of estrogen exposure, and many environmental factors, all of which can influence lipid metabolism. On average, women with PCOS were higher triglyceride [26.39 95% CI (17.24, 35.54)], lower HDL-cholesterol [6.41 95% CI (3.69, 9.14)], and higher non HDL cholesterol levels [18.82 95% CI (15.53, 22.11)] than their non-PCOS counterparts. They have higher ApoCIII/ApoCII ratios and higher ApoCI even if they are not obese. ApoC1 elevation in women with PCOS needs to be further evaluated as a marker of dysfunction and potential CVD risk. ApoB measurements track with non-HDL cholesterol as a surrogate for increased atherogenic circulating small LDL particles. Elevated triglycerides and waist circumference predict CVD risk and women with PCOS often have these phenotypes. Diet and exercise interventions followed by selective lipid lowering medications are encouraged to normalize the dyslipidemia. Copyright © 2012 Elsevier Inc. All rights reserved.

  16. Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene

    Directory of Open Access Journals (Sweden)

    Fang Hu

    2014-10-01

    Full Text Available AIM: To make comprehensive molecular diagnosis for retinitis pigmentosa (RP patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology. METHODS: A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP (XLRP was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members. RESULTS: Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.2417_2418insG:p.E806fs, in exon ORF15 of RP GTPase regulator (RPGR gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members. CONCLUSION: We have identified a novel mutation, c.2417_2418insG:p.E806fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be an effective and economic approach for the comprehensive molecular diagnosis of RP.

  17. Combined dyslipidemia in childhood.

    Science.gov (United States)

    Kavey, Rae-Ellen W

    2015-01-01

    Combined dyslipidemia (CD) is now the predominant dyslipidemic pattern in childhood, characterized by moderate-to-severe elevation in triglycerides and non-high-density lipoprotein cholesterol (non-HDL-C), minimal elevation in low-density lipoprotein cholesterol (LDL-C), and reduced HDL-C. Nuclear magnetic resonance spectroscopy shows that the CD pattern is represented at the lipid subpopulation level as an increase in small, dense LDL and in overall LDL particle number plus a reduction in total HDL-C and large HDL particles, a highly atherogenic pattern. In youth, CD occurs almost exclusively with obesity and is highly prevalent, seen in more than 40% of obese adolescents. CD in childhood predicts pathologic evidence of atherosclerosis and vascular dysfunction in adolescence and young adulthood, and early clinical cardiovascular events in adult life. There is a tight connection between CD, visceral adiposity, insulin resistance, nonalcoholic fatty liver disease, and the metabolic syndrome, suggesting an integrated pathophysiological response to excessive weight gain. Weight loss, changes in dietary composition, and increases in physical activity have all been shown to improve CD significantly in children and adolescents in short-term studies. Most importantly, even small amounts of weight loss are associated with significant decreases in triglyceride levels and increases in HDL-C levels with improvement in lipid subpopulations. Diet change focused on limitation of simple carbohydrate intake with specific elimination of all sugar-sweetened beverages is very effective. Evidence-based recommendations for initiating diet and activity change are provided. Rarely, drug therapy is needed, and the evidence for drug treatment of CD in childhood is reviewed. Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  18. GWAS of follicular lymphoma reveals allelic heterogeneity at 6p21.32 and suggests shared genetic susceptibility with diffuse large B-cell lymphoma.

    Directory of Open Access Journals (Sweden)

    Karin E Smedby

    2011-04-01

    Full Text Available Non-Hodgkin lymphoma (NHL represents a diverse group of hematological malignancies, of which follicular lymphoma (FL is a prevalent subtype. A previous genome-wide association study has established a marker, rs10484561 in the human leukocyte antigen (HLA class II region on 6p21.32 associated with increased FL risk. Here, in a three-stage genome-wide association study, starting with a genome-wide scan of 379 FL cases and 791 controls followed by validation in 1,049 cases and 5,790 controls, we identified a second independent FL-associated locus on 6p21.32, rs2647012 (OR(combined  = 0.64, P(combined  = 2 × 10(-21 located 962 bp away from rs10484561 (r(2<0.1 in controls. After mutual adjustment, the associations at the two SNPs remained genome-wide significant (rs2647012:OR(adjusted  = 0.70, P(adjusted  =  4 × 10(-12; rs10484561:OR(adjusted  = 1.64, P(adjusted  = 5 × 10(-15. Haplotype and coalescence analyses indicated that rs2647012 arose on an evolutionarily distinct haplotype from that of rs10484561 and tags a novel allele with an opposite (protective effect on FL risk. Moreover, in a follow-up analysis of the top 6 FL-associated SNPs in 4,449 cases of other NHL subtypes, rs10484561 was associated with risk of diffuse large B-cell lymphoma (OR(combined  = 1.36, P(combined  =  1.4 × 10(-7. Our results reveal the presence of allelic heterogeneity within the HLA class II region influencing FL susceptibility and indicate a possible shared genetic etiology with diffuse large B-cell lymphoma. These findings suggest that the HLA class II region plays a complex yet important role in NHL.

  19. Sequence-Based Genotyping of Expressed Swine Leukocyte Antigen Class I Alleles by Next-Generation Sequencing Reveal Novel Swine Leukocyte Antigen Class I Haplotypes and Alleles in Belgian, Danish, and Kenyan Fattening Pigs and Göttingen Minipigs

    DEFF Research Database (Denmark)

    Sørensen, Maria Rathmann; Ilsøe, Mette; Strube, Mikael Lenz

    2017-01-01

    for the prediction of epitope binding in pigs. The low number of known SLA class I alleles and the limited knowledge of their prevalence in different pig breeds emphasizes the need for efficient SLA typing methods. This study utilizes an SLA class I-typing method based on next-generation sequencing of barcoded PCR...

  20. Analysis of HLA class II haplotypes in the Cayapa indians of ecuador: A novel DRBI allele reveals evidence for convergent evolution and balancing selection at position 86

    Energy Technology Data Exchange (ETDEWEB)

    Titus-Trachtenberg, E.A.; Erlich, H. (Roche Molecular Systems, Alameda, CA (United States)); Rickards, O.; De Stefano, G.F. (Universita di Roma, Rome (Italy))

    1994-07-01

    PCR amplification, oligonucleotide probe typing, and sequencing were used to analyze the HLA class II loci (DRB1, DQA1, DAB1, and DPB1) of an isolated South Amerindian tribe. Here the authors report HLA class II variation, including the identification of a new DRB1 allele, several novel DR/DQ haplotypes, and an unusual distribution of DPB1 alleles, among the Cayapa Indians (N=100) of Ecuador. A general reduction of HLA class II allelic variation in the Cayapa is consistent with a population bottleneck during the colonization of the Americas. The new Cayapa DRB1 allele, DRB1[sup *]08042, which arose by a G[yields]T point mutation in the parental DRB1[sup *]0802, contains a novel Val codon (GTT) at position 86. The generation of DRB1[sup *]08042 (Val-86) from DRB1[sup *]0802 (Gly-86) in the Cayapa, by a different mechanism than the (GT[yields]TG) change in the creation of DRB1[sub *]08041 (Val-86) from DRB1[sup *]0802 in Africa, implicates selection in the convergent evolution of position 86 DR[beta] variants. The DRB1[sup *]08042 allele has not been found in >1,800 Amerindian haplotypes and thus presumably arose after the Cayapa separated from other South American Amerindians. Selection pressure for increased haplotype diversity can be inferred in the generation and maintenance of three new DRB1[sup *]08042 haplotypes and several novel DR/DQ haplotypes in this population. The DPB1 allelic distribution in the Cayapa is also extraordinary, with two alleles, DPB1[sup *]1401, a very rare allele in North American Amerindian populations, and DPB1[sup *]0402, the most common Amerindian DPB1 allele, constituting 89% of the Cayapa DPB1. These data are consistent with the postulated rapid rate of evolution as noted for the class I HLA-B locus of other South American Indians. 34 refs., 2 figs., 2 tabs.

  1. Automated analysis of high-throughput B-cell sequencing data reveals a high frequency of novel immunoglobulin V gene segment alleles.

    Science.gov (United States)

    Gadala-Maria, Daniel; Yaari, Gur; Uduman, Mohamed; Kleinstein, Steven H

    2015-02-24

    Individual variation in germline and expressed B-cell immunoglobulin (Ig) repertoires has been associated with aging, disease susceptibility, and differential response to infection and vaccination. Repertoire properties can now be studied at large-scale through next-generation sequencing of rearranged Ig genes. Accurate analysis of these repertoire-sequencing (Rep-Seq) data requires identifying the germline variable (V), diversity (D), and joining (J) gene segments used by each Ig sequence. Current V(D)J assignment methods work by aligning sequences to a database of known germline V(D)J segment alleles. However, existing databases are likely to be incomplete and novel polymorphisms are hard to differentiate from the frequent occurrence of somatic hypermutations in Ig sequences. Here we develop a Tool for Ig Genotype Elucidation via Rep-Seq (TIgGER). TIgGER analyzes mutation patterns in Rep-Seq data to identify novel V segment alleles, and also constructs a personalized germline database containing the specific set of alleles carried by a subject. This information is then used to improve the initial V segment assignments from existing tools, like IMGT/HighV-QUEST. The application of TIgGER to Rep-Seq data from seven subjects identified 11 novel V segment alleles, including at least one in every subject examined. These novel alleles constituted 13% of the total number of unique alleles in these subjects, and impacted 3% of V(D)J segment assignments. These results reinforce the highly polymorphic nature of human Ig V genes, and suggest that many novel alleles remain to be discovered. The integration of TIgGER into Rep-Seq processing pipelines will increase the accuracy of V segment assignments, thus improving B-cell repertoire analyses.

  2. Sequence analysis of two alleles reveals that intra-and intergenic recombination played a role in the evolution of the radish fertility restorer (Rfo

    Directory of Open Access Journals (Sweden)

    Budar Françoise

    2010-02-01

    Full Text Available Abstract Background Land plant genomes contain multiple members of a eukaryote-specific gene family encoding proteins with pentatricopeptide repeat (PPR motifs. Some PPR proteins were shown to participate in post-transcriptional events involved in organellar gene expression, and this type of function is now thought to be their main biological role. Among PPR genes, restorers of fertility (Rf of cytoplasmic male sterility systems constitute a peculiar subgroup that is thought to evolve in response to the presence of mitochondrial sterility-inducing genes. Rf genes encoding PPR proteins are associated with very close relatives on complex loci. Results We sequenced a non-restoring allele (L7rfo of the Rfo radish locus whose restoring allele (D81Rfo was previously described, and compared the two alleles and their PPR genes. We identified a ca 13 kb long fragment, likely originating from another part of the radish genome, inserted into the L7rfo sequence. The L7rfo allele carries two genes (PPR-1 and PPR-2 closely related to the three previously described PPR genes of the restorer D81Rfo allele (PPR-A, PPR-B, and PPR-C. Our results indicate that alleles of the Rfo locus have experienced complex evolutionary events, including recombination and insertion of extra-locus sequences, since they diverged. Our analyses strongly suggest that present coding sequences of Rfo PPR genes result from intragenic recombination. We found that the 10 C-terminal PPR repeats in Rfo PPR gene encoded proteins result from the tandem duplication of a 5 PPR repeat block. Conclusions The Rfo locus appears to experience more complex evolution than its flanking sequences. The Rfo locus and PPR genes therein are likely to evolve as a result of intergenic and intragenic recombination. It is therefore not possible to determine which genes on the two alleles are direct orthologs. Our observations recall some previously reported data on pathogen resistance complex loci.

  3. Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation

    DEFF Research Database (Denmark)

    Milani, Lili; Lundmark, Anders; Nordlund, Jessica

    2008-01-01

    To identify genes that are regulated by cis-acting functional elements in acute lymphoblastic leukemia (ALL) we determined the allele-specific expression (ASE) levels of 2, 529 genes by genotyping a genome-wide panel of single nucleotide polymorphisms in RNA and DNA from bone marrow and blood...

  4. Time-Resolved Tracking of Mutations Reveals Diverse Allele Dynamics during Escherichia coli Antimicrobial Adaptive Evolution to Single Drugs and Drug Pairs

    DEFF Research Database (Denmark)

    Hickman, Rachel A.; Munck, Christian; Sommer, Morten Otto Alexander

    2017-01-01

    + CHL and CHL + CIP). We find that lineages evolved to antibiotic combinations exhibit different resistance allele dynamics compared with those of single-drug evolved lineages, especially for a drug pair with reciprocal collateral sensitivity. During adaptation, we observed interfering, superimposing...

  5. Functional variant disrupts insulin induction of USF1: mechanism for USF1-associated dyslipidemias

    DEFF Research Database (Denmark)

    Naukkarinen, J.; Nilsson, E.; Koistinen, H.A.

    2009-01-01

    BACKGROUND: The upstream transcription factor 1 (USF1) gene is associated with familial combined hyperlipidemia, the most common genetic dyslipidemia in humans, as well as with various dyslipidemic changes in numerous other studies. Typical of complex disease-associated genes, neither the explicit...... in USF1 is involved in the development of dyslipidemia. The effects of the risk variant on gene expression were studied in 2 relevant human tissues, fat and muscle. Global transcript profiles of 47 fat biopsies ascertained for carriership of the risk allele were tested for differential expression......, a defective response of USF1 to insulin results in the suboptimal response of relevant target genes that contributes to the enhanced risk of developing dyslipidemia and coronary heart disease Udgivelsesdato: 2009/10...

  6. Changes in allelic frequency over time in European bread wheat (Triticum aestivum L.) varieties revealed using DArT and SSR markers

    DEFF Research Database (Denmark)

    Orabi, Jihad; Jahoor, Ahmed; Backes, Gunter Martin

    2014-01-01

    A collection of 189 bread wheat landraces and cultivars, primarily of European origin, released between 1886 and 2009, was analyzed using two DNA marker systems. A set of 76 SSR markers and ~7,000 DArT markers distributed across the wheat genome were employed in these analyses. All of the SSR...... markers were found to be polymorphic, whereas only 2,532 of the ~7,000 DArT markers were polymorphic. A Mantel test between the genetic distances calculated based on the SSR and DArT data showed a strong positive correlation between the two marker types, with a Pearson's value (r) of 0.66. We assessed...... the genetic diversity and allelic frequencies among the accessions based on spring- versus winter-wheat type as well as between landraces and cultivars. We also analyzed the changes in genetic diversity and allelic frequencies in these samples over time. We observed separation based on both vernalization type...

  7. An extensive allelic series of Drosophila kae1 mutants reveals diverse and tissue-specific requirements for t6A biogenesis

    Science.gov (United States)

    Lin, Ching-Jung; Smibert, Peter; Zhao, Xiaoyu; Hu, Jennifer F.; Ramroop, Johnny; Kellner, Stefanie M.; Benton, Matthew A.; Govind, Shubha; Dedon, Peter C.; Sternglanz, Rolf; Lai, Eric C.

    2015-01-01

    N6-threonylcarbamoyl-adenosine (t6A) is one of the few RNA modifications that is universally present in life. This modification occurs at high frequency at position 37 of most tRNAs that decode ANN codons, and stabilizes cognate anticodon–codon interactions. Nearly all genetic studies of the t6A pathway have focused on single-celled organisms. In this study, we report the isolation of an extensive allelic series in the Drosophila ortholog of the core t6A biosynthesis factor Kae1. kae1 hemizygous larvae exhibit decreases in t6A that correlate with allele strength; however, we still detect substantial t6A-modified tRNAs even during the extended larval phase of null alleles. Nevertheless, complementation of Drosophila Kae1 and other t6A factors in corresponding yeast null mutants demonstrates that these metazoan genes execute t6A synthesis. Turning to the biological consequences of t6A loss, we characterize prominent kae1 melanotic masses and show that they are associated with lymph gland overgrowth and ectopic generation of lamellocytes. On the other hand, kae1 mutants exhibit other phenotypes that reflect insufficient tissue growth. Interestingly, whole-tissue and clonal analyses show that strongly mitotic tissues such as imaginal discs are exquisitely sensitive to loss of kae1, whereas nonproliferating tissues are less affected. Indeed, despite overt requirements of t6A for growth of many tissues, certain strong kae1 alleles achieve and sustain enlarged body size during their extended larval phase. Our studies highlight tissue-specific requirements of the t6A pathway in a metazoan context and provide insights into the diverse biological roles of this fundamental RNA modification during animal development and disease. PMID:26516084

  8. Dissemination of the highly expressed Bx7 glutenin subunit (Glu-B1al allele) in wheat as revealed by novel PCR markers and RP-HPLC.

    Science.gov (United States)

    Butow, B J; Gale, K R; Ikea, J; Juhász, A; Bedö, Z; Tamás, L; Gianibelli, M C

    2004-11-01

    Increased expression of the high molecular weight glutenin subunit (HMW-GS) Bx7 is associated with improved dough strength of wheat (Triticum aestivum L.) flour. Several cultivars and landraces of widely different genetic backgrounds from around the world have now been found to contain this so-called 'over-expressing' allelic form of the Bx7 subunit encoded by Glu-B1al. Using three methods of identification, SDS-PAGE, RP-HPLC and PCR marker analysis, as well as pedigree information, we have traced the distribution and source of this allele from a Uruguayan landrace, Americano 44D, in the mid-nineteenth century. Results are supported by knowledge of the movement of wheat lines with migrants. All cultivars possessing the Glu-B1al allele can be identified by the following attributes: (1) the elution of the By sub-unit peak before the Dx sub-unit peak by RP-HPLC, (2) high expression levels of Bx7 (>39% Mol% Bx), (3) a 43 bp insertion in the matrix-attachment region (MAR) upstream of the gene promoter relative to Bx7 and an 18 bp nucleotide duplication in the coding region of the gene. Evidence is presented indicating that these 18 and 43 bp sequence insertions are not causal for the high expression levels of Bx7 as they were also found to be present in a small number of hexaploid species, including Chinese Spring, and species expressing Glu-B1ak and Glu-B1a alleles. In addition, these sequence inserts were found in different isolates of the tetraploid wheat, T. turgidum, indicating that these insertion/deletion events occurred prior to hexaploidization.

  9. Comparison of identical and functional Igh alleles reveals a nonessential role for Eμ in somatic hypermutation and class-switch recombination.

    Science.gov (United States)

    Li, Fubin; Yan, Yi; Pieretti, Joyce; Feldman, Danielle A; Eckhardt, Laurel A

    2010-11-15

    Somatic hypermutation (SHM), coupled with Ag selection, provides a mechanism for generating Abs with high affinity for invading pathogens. Class-switch recombination (CSR) ensures that these Abs attain pathogen-appropriate effector functions. Although the enzyme critical to both processes, activation-induced cytidine deaminase, has been identified, it remains unclear which cis-elements within the Ig loci are responsible for recruiting activation-induced cytidine deaminase and promoting its activity. Studies showed that Ig gene-transcription levels are positively correlated with the frequency of SHM and CSR, making the intronic, transcriptional enhancer Eμ a likely contributor to both processes. Tests of this hypothesis yielded mixed results arising, in part, from the difficulty in studying B cell function in mice devoid of Eμ. In Eμ's absence, V(H) gene assembly is dramatically impaired, arresting B cell development. The current study circumvented this problem by modifying the murine Igh locus through simultaneous insertion of a fully assembled V(H) gene and deletion of Eμ. The behavior of this allele was compared with that of a matched allele carrying the same V(H) gene but with Eμ intact. Although IgH transcription was as great or greater on the Eμ-deficient allele, CSR and SHM were consistently, but modestly, reduced relative to the allele in which Eμ remained intact. We conclude that Eμ contributes to, but is not essential for, these complex processes and that its contribution is not as a transcriptional enhancer but, rather, is at the level of recruitment and/or activation of the SHM/CSR machinery.

  10. A genome-wide screen in human embryonic stem cells reveals novel sites of allele-specific histone modification associated with known disease loci

    LENUS (Irish Health Repository)

    Prendergast, James G D

    2012-05-19

    AbstractBackgroundChromatin structure at a given site can differ between chromosome copies in a cell, and such imbalances in chromatin structure have been shown to be important in understanding the molecular mechanisms controlling several disease loci. Human genetic variation, DNA methylation, and disease have been intensely studied, uncovering many sites of allele-specific DNA methylation (ASM). However, little is known about the genome-wide occurrence of sites of allele-specific histone modification (ASHM) and their relationship to human disease. The aim of this study was to investigate the extent and characteristics of sites of ASHM in human embryonic stem cells (hESCs).ResultsUsing a statistically rigorous protocol, we investigated the genomic distribution of ASHM in hESCs, and their relationship to sites of allele-specific expression (ASE) and DNA methylation. We found that, although they were rare, sites of ASHM were substantially enriched at loci displaying ASE. Many were also found at known imprinted regions, hence sites of ASHM are likely to be better markers of imprinted regions than sites of ASM. We also found that sites of ASHM and ASE in hESCs colocalize at risk loci for developmental syndromes mediated by deletions, providing insights into the etiology of these disorders.ConclusionThese results demonstrate the potential importance of ASHM patterns in the interpretation of disease loci, and the protocol described provides a basis for similar studies of ASHM in other cell types to further our understanding of human disease susceptibility.

  11. The Contribution of GWAS Loci in Familial Dyslipidemias

    Science.gov (United States)

    Söderlund, Sanni; Surakka, Ida; Matikainen, Niina; Pirinen, Matti; Pajukanta, Päivi; Service, Susan K.; Laurila, Pirkka-Pekka; Ehnholm, Christian; Salomaa, Veikko; Wilson, Richard K.; Palotie, Aarno; Freimer, Nelson B.; Taskinen, Marja-Riitta; Ripatti, Samuli

    2016-01-01

    Familial combined hyperlipidemia (FCH) is a complex and common familial dyslipidemia characterized by elevated total cholesterol and/or triglyceride levels with over five-fold risk of coronary heart disease. The genetic architecture and contribution of rare Mendelian and common variants to FCH susceptibility is unknown. In 53 Finnish FCH families, we genotyped and imputed nine million variants in 715 family members with DNA available. We studied the enrichment of variants previously implicated with monogenic dyslipidemias and/or lipid levels in the general population by comparing allele frequencies between the FCH families and population samples. We also constructed weighted polygenic scores using 212 lipid-associated SNPs and estimated the relative contributions of Mendelian variants and polygenic scores to the risk of FCH in the families. We identified, across the whole allele frequency spectrum, an enrichment of variants known to elevate, and a deficiency of variants known to lower LDL-C and/or TG levels among both probands and affected FCH individuals. The score based on TG associated SNPs was particularly high among affected individuals compared to non-affected family members. Out of 234 affected FCH individuals across the families, seven (3%) carried Mendelian variants and 83 (35%) showed high accumulation of either known LDL-C or TG elevating variants by having either polygenic score over the 90th percentile in the population. The positive predictive value of high score was much higher for affected FCH individuals than for similar sporadic cases in the population. FCH is highly polygenic, supporting the hypothesis that variants across the whole allele frequency spectrum contribute to this complex familial trait. Polygenic SNP panels improve identification of individuals affected with FCH, but their clinical utility remains to be defined. PMID:27227539

  12. Population genetics of Phytophthora infestans in Denmark reveals dominantly clonal populations and specific alleles linked to metalaxyl-M resistance

    DEFF Research Database (Denmark)

    Montes, M. S.; Nielsen, Bent Jørgen; Schmidt, S. G.

    2016-01-01

    population of P. infestans was characterized over the course of the 2013 growing season, as was the population genetic structure, using simple sequence repeat (SSR) genotypes and single nucleotide polymorphism (SNP)-based mitochondrial haplotyping of over 80 isolates. Both mating types A1 and A2 were present...... in most fields, but tests for recombination showed that clonal reproduction dominates in Danish populations. Genotype was not linked to haplotype and no differentiation was observed at the haplotype level, but rather between fields. Resistance phenotypes were linked to specific SSR alleles, demonstrating...

  13. Transcription factor 7-like 2 polymorphism and context-specific risk of metabolic syndrome, type 2 diabetes, and dyslipidemia

    Directory of Open Access Journals (Sweden)

    Abbasali Palizban

    2017-01-01

    Full Text Available Background: The transcription factor 7-like 2 gene (TCF7L2 is an element of the Wnt signaling pathway. There is lack of evidence if TCF7L2 has a functional role in lipid metabolism and regulation of the components constitutes the metabolic syndrome (MetSyn. The aims of this study were to evaluate whether the risk allele of TCF7L2 gene polymorphism is associated with dyslipidemia and MetSyn. Materials and Methods: The MetSyn subjects were participated only based on the National Cholesterol Education Program – Third Adult Treatment Panel criteria. In this case–control study, the DNA from MetSyn patients without (n = 90 and with type 2 diabetes (T2D (n = 94 were genotyped. Results: The results show that the genotype-phenotype for CC, CT/TT of TCF7L2 gene polymorphism correlated with body mass index and waist circumference in MetSyn and MetSyn + T2D subjects (r = −0.949 and r = −0.963, respectively. The subjects that only possess MetSyn but are not diabetics show the 2 h postprandial glucose and fasting blood glucose, glycated hemoglobin significantly lower (P < 0.05 than those subjects have both abnormality. The level of triglyceride in CT/TT carriers in MetSyn was higher than CC carriers (P = 0.025. A comparison with the controls subjects, the frequencies of the T allele in the groups of MetSyn (46.66% and MetSyn + T2D (47.34% show significantly different (P < 0.05. The odds ratios for T allele in (MetSyn/(normal, (MetSyn + T2D/(normal, and in (MetSyn + T2D/(MetSyn were 3.59 (95% confidence interval [CI], 1.33–9.67, P = 0.0093, 3.76 (95% CI, 1.40–10.07, P = 0.0068, and 1.08 (95% CI: 0.55– 2.11, P = 0.834, respectively. Conclusion: The results revealed the important insights essential for the role of TCF7L2 that the T allele of TCF7L2 plays a significant role in the susceptibility to dyslipidemia, MetSyn, and T2D.

  14. Novel ethyl methanesulfonate (EMS-induced null alleles of the Drosophila homolog of LRRK2 reveal a crucial role in endolysosomal functions and autophagy in vivo

    Directory of Open Access Journals (Sweden)

    Mark W. Dodson

    2014-12-01

    Full Text Available Mutations in LRRK2 cause a dominantly inherited form of Parkinson’s disease (PD and are the most common known genetic determinant of PD. Inhibitor-based therapies targeting LRRK2 have emerged as a key therapeutic strategy in PD; thus, understanding the consequences of inhibiting the normal cellular functions of this protein is vital. Despite much interest, the physiological functions of LRRK2 remain unclear. Several recent studies have linked the toxicity caused by overexpression of pathogenic mutant forms of LRRK2 to defects in the endolysosomal and autophagy pathways, raising the question of whether endogenous LRRK2 might play a role in these processes. Here, we report the characterization of multiple novel ethyl methanesulfonate (EMS-induced nonsense alleles in the Drosophila LRRK2 homolog, lrrk. Using these alleles, we show that lrrk loss-of-function causes striking defects in the endolysosomal and autophagy pathways, including the accumulation of markedly enlarged lysosomes that are laden with undigested contents, consistent with a defect in lysosomal degradation. lrrk loss-of-function also results in the accumulation of autophagosomes, as well as the presence of enlarged early endosomes laden with mono-ubiquitylated cargo proteins, suggesting an additional defect in lysosomal substrate delivery. Interestingly, the lysosomal abnormalities in these lrrk mutants can be suppressed by a constitutively active form of the small GTPase rab9, which promotes retromer-dependent recycling from late endosomes to the Golgi. Collectively, our data provides compelling evidence of a vital role for lrrk in lysosomal function and endolysosomal membrane transport in vivo, and suggests a link between lrrk and retromer-mediated endosomal recycling.

  15. Novel ethyl methanesulfonate (EMS)-induced null alleles of the Drosophila homolog of LRRK2 reveal a crucial role in endolysosomal functions and autophagy in vivo.

    Science.gov (United States)

    Dodson, Mark W; Leung, Lok K; Lone, Mohiddin; Lizzio, Michael A; Guo, Ming

    2014-12-01

    Mutations in LRRK2 cause a dominantly inherited form of Parkinson's disease (PD) and are the most common known genetic determinant of PD. Inhibitor-based therapies targeting LRRK2 have emerged as a key therapeutic strategy in PD; thus, understanding the consequences of inhibiting the normal cellular functions of this protein is vital. Despite much interest, the physiological functions of LRRK2 remain unclear. Several recent studies have linked the toxicity caused by overexpression of pathogenic mutant forms of LRRK2 to defects in the endolysosomal and autophagy pathways, raising the question of whether endogenous LRRK2 might play a role in these processes. Here, we report the characterization of multiple novel ethyl methanesulfonate (EMS)-induced nonsense alleles in the Drosophila LRRK2 homolog, lrrk. Using these alleles, we show that lrrk loss-of-function causes striking defects in the endolysosomal and autophagy pathways, including the accumulation of markedly enlarged lysosomes that are laden with undigested contents, consistent with a defect in lysosomal degradation. lrrk loss-of-function also results in the accumulation of autophagosomes, as well as the presence of enlarged early endosomes laden with mono-ubiquitylated cargo proteins, suggesting an additional defect in lysosomal substrate delivery. Interestingly, the lysosomal abnormalities in these lrrk mutants can be suppressed by a constitutively active form of the small GTPase rab9, which promotes retromer-dependent recycling from late endosomes to the Golgi. Collectively, our data provides compelling evidence of a vital role for lrrk in lysosomal function and endolysosomal membrane transport in vivo, and suggests a link between lrrk and retromer-mediated endosomal recycling. © 2014. Published by The Company of Biologists Ltd.

  16. Mutant Allele-Specific Uncoupling of PENETRATION3 Functions Reveals Engagement of the ATP-Binding Cassette Transporter in Distinct Tryptophan Metabolic Pathways1[OPEN

    Science.gov (United States)

    Lu, Xunli; Dittgen, Jan; Piślewska-Bednarek, Mariola; Molina, Antonio; Schneider, Bernd; Doubský, Jan; Schneeberger, Korbinian; Schulze-Lefert, Paul

    2015-01-01

    Arabidopsis (Arabidopsis thaliana) PENETRATION (PEN) genes quantitatively contribute to the execution of different forms of plant immunity upon challenge with diverse leaf pathogens. PEN3 encodes a plasma membrane-resident pleiotropic drug resistance-type ATP-binding cassette transporter and is thought to act in a pathogen-inducible and PEN2 myrosinase-dependent metabolic pathway in extracellular defense. This metabolic pathway directs the intracellular biosynthesis and activation of tryptophan-derived indole glucosinolates for subsequent PEN3-mediated efflux across the plasma membrane at pathogen contact sites. However, PEN3 also functions in abiotic stress responses to cadmium and indole-3-butyric acid (IBA)-mediated auxin homeostasis in roots, raising the possibility that PEN3 exports multiple functionally unrelated substrates. Here, we describe the isolation of a pen3 allele, designated pen3-5, that encodes a dysfunctional protein that accumulates in planta like wild-type PEN3. The specific mutation in pen3-5 uncouples PEN3 functions in IBA-stimulated root growth modulation, callose deposition induced with a conserved peptide epitope of bacterial flagellin (flg22), and pathogen-inducible salicylic acid accumulation from PEN3 activity in extracellular defense, indicating the engagement of multiple PEN3 substrates in different PEN3-dependent biological processes. We identified 4-O-β-d-glucosyl-indol-3-yl formamide (4OGlcI3F) as a pathogen-inducible, tryptophan-derived compound that overaccumulates in pen3 leaf tissue and has biosynthesis that is dependent on an intact PEN2 metabolic pathway. We propose that a precursor of 4OGlcI3F is the PEN3 substrate in extracellular pathogen defense. These precursors, the shared indole core present in IBA and 4OGlcI3F, and allele-specific uncoupling of a subset of PEN3 functions suggest that PEN3 transports distinct indole-type metabolites in distinct biological processes. PMID:26023163

  17. Association between atherogenic dyslipidemia and recurrent stroke risk in patients with different subtypes of ischemic stroke.

    Science.gov (United States)

    Zhao, Lu; Wang, Ruihao; Song, Bo; Tan, Song; Gao, Yuan; Fang, Hui; Lu, Jie; Xu, Yuming

    2015-07-01

    The association between atherogenic dyslipidemia and stroke recurrence remains unclear, and may be influenced by different subtypes of ischemic stroke. We aimed to investigate whether atherogenic dyslipidemia contributed to stroke recurrence in ischemic stroke patients and in those with certain subtypes of ischemic stroke. We conducted a prospective hospital-based study enrolling patients with acute ischemic stroke. Atherogenic dyslipidemia was defined as high-density lipoprotein cholesterol dyslipidemia and stroke recurrence was analyzed by using multivariable Cox regression model. In the 510 ischemic stroke patients, 64 patients (12·5%) had atherogenic dyslipidemia, and 66 patients (12·9%) experienced stroke recurrence events within 24 months. Kaplan-Meier analysis revealed that stroke recurrence rate was significantly higher in patients with atherogenic dyslipidemia than those without in all the stroke patients (20·3% vs. 11·9%; P = 0·048), and more evident in those of large-artery atherosclerosis subtype (31·0% vs. 14·1%; P = 0·014), but not in the other subtypes. Multivariable Cox regression analysis revealed that atherogenic dyslipidemia was associated with higher stroke recurrence risk among stroke patients of large-artery atherosclerosis subtype (hazard ratio, 2·79; 95% confidence interval, 1·24-6·28), but not significant in all the stroke patients (hazard ratio, 1·69; 95% confidence interval, 0·85-3·37). Atherogenic dyslipidemia is associated with higher risk of stroke recurrence in ischemic stroke patients. Such association might be more pronounced in large-artery atherosclerosis subtype and needs further investigation to establish such relationship. © 2015 World Stroke Organization.

  18. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

    Science.gov (United States)

    Lenassi, Eva; Vincent, Ajoy; Li, Zheng; Saihan, Zubin; Coffey, Alison J; Steele-Stallard, Heather B; Moore, Anthony T; Steel, Karen P; Luxon, Linda M; Héon, Elise; Bitner-Glindzicz, Maria; Webster, Andrew R

    2015-01-01

    Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in 84 probands with recessive retinal disease (replication cohort). Detailed phenotyping, including retinal imaging and audiological assessment, was performed in individuals with two likely disease-causing USH2A variants. Further genetic testing, including screening for a deep-intronic disease-causing variant and large deletions/duplications, was performed in those with one likely disease-causing change. Overall, 23 of 186 probands (discovery cohort) were found to harbour two likely disease-causing variants in USH2A. Some of these variants were predominantly associated with nonsyndromic retinal degeneration (‘retinal disease-specific'); these included the common c.2276 G>T, p.(Cys759Phe) mutation and five additional variants: c.2802 T>G, p.(Cys934Trp); c.10073 G>A, p.(Cys3358Tyr); c.11156 G>A, p.(Arg3719His); c.12295-3 T>A; and c.12575 G>A, p.(Arg4192His). An allelic hierarchy was observed in the discovery cohort and confirmed in the replication cohort. In nonsyndromic USH2A disease, retinopathy was consistent with retinitis pigmentosa and the audiological phenotype was variable. USH2A retinopathy is a common cause of nonsyndromic recessive retinal degeneration and has a different mutational spectrum to that observed in Usher syndrome. The following model is proposed: the presence of at least one ‘retinal disease-specific' USH2A allele in a patient with USH2A-related disease results in the preservation of normal hearing. Careful genotype–phenotype studies such as this will become increasingly important, especially now that high-throughput sequencing is widely used in the clinical setting. PMID:25649381

  19. Relationship between Anthropometric Indices and Dyslipidemia ...

    African Journals Online (AJOL)

    Relationship between Anthropometric Indices and Dyslipidemia among Sudanese ... correlation was detected between waist circumference and total cholesterol. ... lipoprotein, triglycerides, high-density lipoprotein, and TC: HDL, while no ...

  20. Dyslipidemia in women: etiology and management

    Directory of Open Access Journals (Sweden)

    Phan BAP

    2014-02-01

    Full Text Available Binh An P Phan,1 Peter P Toth2–41Loyola University Chicago Stritch School of Medicine, Division of Cardiology, Loyola University Medical Center, Maywood, IL, USA; 2CGH Medical Center, Sterling, 3University of Illinois School of Medicine, Peoria, IL, USA; 4Michigan State University College of Osteopathic Medicine, East Lansing, MI, USAAbstract: Dyslipidemia is highly prevalent among women. The management of dyslipidemia is a cornerstone in the prevention of both primary and secondary cardiovascular events, such as myocardial infarction, ischemic stroke, and coronary death. All major international guidelines on the treatment of dyslipidemia recommend similar approaches to the management of dyslipidemia in both men and women. Estrogen replacement therapy should not be considered as a therapeutic option for managing dyslipidemia in women. The reduction of atherogenic lipoprotein burden (reducing low-density lipoprotein cholesterol and non-high-density lipoprotein cholesterol based on risk-stratified thresholds and treatment targets provided the framework for managing dyslipidemia in the US, Europe, Canada, and elsewhere in the world. Very recently, new guidelines in the US have changed this paradigm, whereby rather than focusing on treatment targets, risk now defines the intensity of treatment with statin therapy, with no specific goals for what level of low-density lipoprotein cholesterol should be attained. It is not clear if this will lead to changes in lipid guidelines in other parts of the world. In the meantime, region-specific guidelines should be followed. Lipid lowering with statin therapy does correlate with reductions in cardiovascular event rates in women. The clinical impact of treating dyslipidemias in women with nonstatin drugs (eg, fibrates, nicotinic acid, bile acid-binding resins, omega-3 fish oils is as yet not determined.Keywords: dyslipidemia, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol

  1. Managing mixed dyslipidemia in special populations

    OpenAIRE

    Miller, Michael

    2010-01-01

    Controlling low-density lipoprotein cholesterol is one of the major focuses of cardiovascular care. However, the twin global pandemics of obesity and diabetes are promoting an increased prevalence of associated cardiometabolic risk factors. These factors include mixed dyslipidemia, which is prevalent among several important subgroups of the overall population. Cardiovascular risk increases as women reach and extend beyond menopause, partly reflective of dyslipidemia. In addition, women with p...

  2. Somatic mutations, allele loss, and DNA methylation of the Cub and Sushi Multiple Domains 1 (CSMD1 gene reveals association with early age of diagnosis in colorectal cancer patients.

    Directory of Open Access Journals (Sweden)

    Austin Y Shull

    Full Text Available The Cub and Sushi Multiple Domains 1 (CSMD1 gene, located on the short arm of chromosome 8, codes for a type I transmembrane protein whose function is currently unknown. CSMD1 expression is frequently lost in many epithelial cancers. Our goal was to characterize the relationships between CSMD1 somatic mutations, allele imbalance, DNA methylation, and the clinical characteristics in colorectal cancer patients.We sequenced the CSMD1 coding regions in 54 colorectal tumors using the 454FLX pyrosequencing platform to interrogate 72 amplicons covering the entire coding sequence. We used heterozygous SNP allele ratios at multiple CSMD1 loci to determine allelic balance and infer loss of heterozygosity. Finally, we performed methylation-specific PCR on 76 colorectal tumors to determine DNA methylation status for CSMD1 and known methylation targets ALX4, RUNX3, NEUROG1, and CDKN2A.Using 454FLX sequencing and confirming with Sanger sequencing, 16 CSMD1 somatic mutations were identified in 6 of the 54 colorectal tumors (11%. The nonsynonymous to synonymous mutation ratio of the 16 somatic mutations was 15:1, a ratio significantly higher than the expected 2:1 ratio (p = 0.014. This ratio indicates a presence of positive selection for mutations in the CSMD1 protein sequence. CSMD1 allelic imbalance was present in 19 of 37 informative cases (56%. Patients with allelic imbalance and CSMD1 mutations were significantly younger (average age, 41 years than those without somatic mutations (average age, 68 years. The majority of tumors were methylated at one or more CpG loci within the CSMD1 coding sequence, and CSMD1 methylation significantly correlated with two known methylation targets ALX4 and RUNX3. C:G>T:A substitutions were significantly overrepresented (47%, suggesting extensive cytosine methylation predisposing to somatic mutations.Deep amplicon sequencing and methylation-specific PCR reveal that CSMD1 alterations can correlate with earlier clinical

  3. Genetics of Dyslipidemia and Ischemic Heart Disease.

    Science.gov (United States)

    Sharma, Kavita; Baliga, Ragavendra R

    2017-05-01

    Genetic dyslipidemias contribute to the prevalence of ischemic heart disease. The field of genetic dyslipidemias and their influence on atherosclerotic heart disease is rapidly developing and accumulating increasing evidence. The purpose of this review is to describe the current state of knowledge in regard to inherited atherogenic dyslipidemias. The disorders of familial hypercholesterolemia (FH) and elevated lipoprotein(a) will be detailed. Genetic technology has made rapid advancements, leading to new discoveries in inherited atherogenic dyslipidemias, which will be explored in this review, as well as a description of possible future developments. Increasing attention has come upon the genetic disorders of familial hypercholesterolemia and elevated lipoprotein(a). This review includes new knowledge of these disorders including description of these disorders, their method of diagnosis, their prevalence, their genetic underpinnings, and their effect on the development of cardiovascular disease. In addition, it discusses major advances in genetic technology, including the completion of the human genome sequence, next-generation sequencing, and genome-wide association studies. Also discussed are rare variant studies with specific genetic mechanisms involved in inherited dyslipidemias, such as in the proprotein convertase subtilisin/kexin type 9 (PCSK9) enzyme. The field of genetics of dyslipidemia and cardiovascular disease is rapidly growing, which will result in a bright future of novel mechanisms of action and new therapeutics.

  4. Managing mixed dyslipidemia in special populations.

    Science.gov (United States)

    Miller, Michael

    2010-01-01

    Controlling low-density lipoprotein cholesterol is one of the major focuses of cardiovascular care. However, the twin global pandemics of obesity and diabetes are promoting an increased prevalence of associated cardiometabolic risk factors. These factors include mixed dyslipidemia, which is prevalent among several important subgroups of the overall population. Cardiovascular risk increases as women reach and extend beyond menopause, partly reflective of dyslipidemia. In addition, women with polycystic ovary syndrome display a cluster of risk factors reminiscent of the metabolic syndrome. Certain ethnic groups are also at increased risk for type 2 diabetes or the metabolic syndrome. Dyslipidemia contributes significantly to overall cardiovascular risk in the elderly, and the frequency of children and adolescents presenting with type 2 diabetes or metabolic syndrome is increasing worldwide. Physicians should be aware of the possibility of mixed dyslipidemia in patients at elevated cardiometabolic risk. However, while combination therapy may successfully correct the associated dyslipidemia, it remains to be established whether the addition of a second agent improves coronary risk beyond statin monotherapy.

  5. Dyslipidemias and obesity in Mexico

    Directory of Open Access Journals (Sweden)

    Simón Barquera

    2007-01-01

    Full Text Available OBJECTIVE: To describe in a national sample 1 the mean total cholesterol (TC, HDL-cholesterol (HDLc and triglyceride (TG concentrations, 2 the prevalence of the most common lipid abnormalities and 3 the association between obesity and these conditions. MATERIAL AND METHODS: We analyzed the nationally representative, cross-sectional Me-xican Health Survey (2000. The final analytic sample used consisted of 2 351 individuals at fasting state. TC, HDLc and TG were determined. BMI was classified according to the WHO cut-off points. Sex-specific means and 95% confidence intervals (95%CI were calculated by age group for TC, HDLc and TG. The prevalence of: a hypercholesterolemia (HC, b hypoalphalipoproteinemia (HA, c hypertriglyceridemia (HT, d HT with HA and e HC with HT was calculated adjusting for age. Multivariate logistic regression models were estimated to analyze the association of obesity to the prevalence of dyslipidemias. RESULTS: The mean TC, HDLc, and TG concentrations were: 197.5 mg/dl (95% CI= 194.0, 201.1, 38.4 mg/dl (95% CI= 37.2, 39.5 and 181.7 mg/dl (95% CI= 172.7, 190.6, respectively. HC was present in 40.5% of the adult females (95% CI=35.5, 45.4 and 44.6 of the adult males (95% CI=37.7, 51.4; HA was the most prevalent form of dyslipidemia, present in 64.7% (95% CI=58.7, 70.8 and 61.4% (95% CI=54.4, 68.3 of females and males, respectively. Obesity increased ~1.4 times the probability ratio (PR of having HC among women and 1.9 among men. CONCLUSION: TC concentrations from our study in Mexico were similar to those found for Mexican-Americans and the prevalence of HC was slightly lower than the one reported in the US; however, it increased ~26% from 1988 to 2000. HA was the most frequent lipid abnormality followed by HT. Regions showed no significant differences, contrary to what has been previously reported.OBJETIVO: Describir en una muestra nacional las concentraciones de 1 colesterol total (CT, colesterol-HDL (cHDL y triglic

  6. Dyslipidemia in women with polycystic ovary syndrome

    OpenAIRE

    Kim, Jin Ju; Choi, Young Min

    2013-01-01

    Dyslipidemia is a very common metabolic abnormality in women with polycystic ovary syndrome (PCOS). Insulin resistance is a key pathophysiology of PCOS, thus dyslipidemia in women with PCOS may be consistent with those found in an insulin resistant state. In recent meta-analysis, triglycerides and low-density lipoprotein (LDL) cholesterol levels were 26 mg/dL and 12 mg/dL higher, and high-density lipoprotein cholesterol concentration was 6 mg/dL lower in women with PCOS than those of controls...

  7. Effect of rosuvastatin on dyslipidemia and other parameters ...

    African Journals Online (AJOL)

    Context: Metabolic syndrome (MS) is a constellation of metabolic irregularities consisting of dyslipidemia, hypertension, hyperglycemia, chronic inflammatory, and hypercoagulable state predisposing to diabetes and cardiovascular events. Statins are first-line drugs to treat the associated atherogenic dyslipidemia.

  8. Sarcopenic obesity and dyslipidemia response to selective exercise ...

    African Journals Online (AJOL)

    Conclusion: Aerobic and resisted exercise has a positive effect in treatment of sarcopenic obesity and dyslipidemia (reducing fat mass, cholesterol and triglycerides levels while increasing muscle mass) post liver transplantation. KEYWORDS: Liver transplantation; Sarcopenic obesity; Dyslipidemia; Aerobic exercise; ...

  9. Anthropometric and metabolic indices in assessment of type and severity of dyslipidemia.

    Science.gov (United States)

    Zaid, Muhammad; Ameer, Fatima; Munir, Rimsha; Rashid, Rida; Farooq, Nimrah; Hasnain, Shahida; Zaidi, Nousheen

    2017-02-28

    It has been shown that obesity is associated with increased rates of dyslipidemia. The present work revisits the association between plasma lipid levels and classical indicators of obesity including body mass index (BMI). The significance of various anthropometric/metabolic variables in clinical assessment of type and severity of dyslipidemia was also determined. Recently described body indices, a body shape index (ABSI) and body roundness index (BRI), were also assessed in this context. For the present cross-sectional analytical study, the participants (n = 275) were recruited from the patients visiting different health camps. Participants were anthropometrically measured and interviewed, and their fasting intravenous blood was collected. Plasma lipid levels were accordingly determined. The values for different anthropometric parameters are significantly different between dyslipidemic and non-dyslipidemic participants. Receiver operating characteristics curve analyses revealed that all the tested variables gave the highest area under the curve (AUC) values for predicting hypertriglyceridemia in comparison to other plasma lipid abnormalities. BRI gave slightly higher AUC values in predicting different forms of dyslipidemia in comparison to BMI, whereas ABSI gave very low values. Several anthropometric/metabolic indices display increased predictive capabilities for detecting hypertriglyceridemia in comparison to any other form of plasma lipid disorders. The capacity of BRI to predict dyslipidemia was comparable but not superior to the classical indicators of obesity, whereas ABSI could not detect dyslipidemia.

  10. Toenail mercury and dyslipidemia: Interaction with selenium.

    Science.gov (United States)

    Park, Kyong; Seo, Eunmin

    2017-01-01

    Although compelling evidences from in vivo and in vitro studies exist, limited studies have examined the association between chronic mercury exposure and dyslipidemia. Particularly, data are sparse regarding the influence of selenium on this association of mercury with dyslipidemia in humans. The purpose of the current study was to examine the associations of toenail mercury with dyslipidemia and its components, and to examine whether selenium in toenails modifies these associations. We performed cross-sectional analyses using baseline data from a cohort in the Yeungnam area in South Korea, including 232 men and 269 women. Toenail mercury and selenium concentrations were quantified using neutron activation analysis, and fasting serum lipid measurements were obtained through the medical examination. Odds ratios of the prevalent hypercholesterolemia, hyper-LDL-cholesterolemia, hypo-HDL-cholesterolemia, hypertriglyceridemia, and dyslipidemia in correlation with mercury levels were calculated using multivariable logistic regression. The mean levels of toenail mercury were 0.47μg/g for men and 0.34μg/g for women. After adjustment for multiple confounding variables, participants in the highest tertile of toenail mercury levels had 4.08 (95% CI 1.09-15.32, p for trend=0.02) times higher risk of hyper-LDL-cholesterolemia, and 2.24 (95% CI 1.15-4.37, p for trend=0.004) times higher risk of dyslipidemia than those in the lowest tertile. Selenium is a significant effect-modifier for these associations; the highest tertile of toenail mercury were significantly associated with a higher risk of hypercholesterolemia (OR 5.25, 95% CI 1.04-26.38) and dyslipidemia (OR 2.98, 95% CI 1.16-7.66) compared to the lowest tertile at toenail selenium levels ≤0.685μg/g, while these associations became weak and non-significant, showing OR 0.98 and 95% CI 0.25-3.80 for hypercholesterolemia and OR 1.99 and 95% CI 0.73-5.45 for dyslipidemia at toenail selenium levels >0.685μg/g. We

  11. Obesity and Dyslipidemia in South Asians

    Science.gov (United States)

    Misra, Anoop; Shrivastava, Usha

    2013-01-01

    Obesity and dyslipidemia are emerging as major public health challenges in South Asian countries. The prevalence of obesity is more in urban areas than rural, and women are more affected than men. Further, obesity in childhood and adolescents is rising rapidly. Obesity in South Asians has characteristic features: high prevalence of abdominal obesity, with more intra-abdominal and truncal subcutaneous adiposity than white Caucasians. In addition, there is greater accumulation of fat at “ectopic” sites, namely the liver and skeletal muscles. All these features lead to higher magnitude of insulin resistance, and its concomitant metabolic disorders (the metabolic syndrome) including atherogenic dyslipidemia. Because of the occurrence of type 2 diabetes, dyslipidemia and other cardiovascular morbidities at a lower range of body mass index (BMI) and waist circumference (WC), it is proposed that cut-offs for both measures of obesity should be lower (BMI 23–24.9 kg/m2 for overweight and ≥25 kg/m2 for obesity, WC ≥80 cm for women and ≥90 cm for men for abdominal obesity) for South Asians, and a consensus guideline for these revised measures has been developed for Asian Indians. Increasing obesity and dyslipidemia in South Asians is primarily driven by nutrition, lifestyle and demographic transitions, increasingly faulty diets and physical inactivity, in the background of genetic predisposition. Dietary guidelines for prevention of obesity and diabetes, and physical activity guidelines for Asian Indians are now available. Intervention programs with emphasis on improving knowledge, attitude and practices regarding healthy nutrition, physical activity and stress management need to be implemented. Evidence for successful intervention program for prevention of childhood obesity and for prevention of diabetes is available for Asian Indians, and could be applied to all South Asian countries with similar cultural and lifestyle profiles. Finally, more research on

  12. Obesity and Dyslipidemia in South Asians

    Directory of Open Access Journals (Sweden)

    Anoop Misra

    2013-07-01

    Full Text Available Obesity and dyslipidemia are emerging as major public health challenges in South Asian countries. The prevalence of obesity is more in urban areas than rural, and women are more affected than men. Further, obesity in childhood and adolescents is rising rapidly. Obesity in South Asians has characteristic features: high prevalence of abdominal obesity, with more intra-abdominal and truncal subcutaneous adiposity than white Caucasians. In addition, there is greater accumulation of fat at “ectopic” sites, namely the liver and skeletal muscles. All these features lead to higher magnitude of insulin resistance, and its concomitant metabolic disorders (the metabolic syndrome including atherogenic dyslipidemia. Because of the occurrence of type 2 diabetes, dyslipidemia and other cardiovascular morbidities at a lower range of body mass index (BMI and waist circumference (WC, it is proposed that cut-offs for both measures of obesity should be lower (BMI 23–24.9 kg/m2 for overweight and ≥25 kg/m2 for obesity, WC ≥80 cm for women and ≥90 cm for men for abdominal obesity for South Asians, and a consensus guideline for these revised measures has been developed for Asian Indians. Increasing obesity and dyslipidemia in South Asians is primarily driven by nutrition, lifestyle and demographic transitions, increasingly faulty diets and physical inactivity, in the background of genetic predisposition. Dietary guidelines for prevention of obesity and diabetes, and physical activity guidelines for Asian Indians are now available. Intervention programs with emphasis on improving knowledge, attitude and practices regarding healthy nutrition, physical activity and stress management need to be implemented. Evidence for successful intervention program for prevention of childhood obesity and for prevention of diabetes is available for Asian Indians, and could be applied to all South Asian countries with similar cultural and lifestyle profiles. Finally, more

  13. A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci.

    Science.gov (United States)

    Baine, Fiona K; Peerbhai, Nabeelah; Krause, Amanda

    2018-07-15

    Huntington disease (HD) is a progressive neurodegenerative disease, characterised by a triad of movement disorder, emotional and behavioural disturbances and cognitive impairment. The underlying cause is an expanded CAG repeat in the huntingtin gene. For a small proportion of patients presenting with HD-like symptoms, the mutation in this gene is not identified and they are said to have a HD "phenocopy". South Africa has the highest number of recorded cases of an African-specific phenocopy, Huntington disease-like 2 (HDL2), caused by a repeat expansion in the junctophilin-3 gene. However, a significant proportion of black patients with clinical symptoms suggestive of HD still test negative for HD and HDL2. This study thus aimed to investigate five other loci associated with HD phenocopy syndromes - ATN1, ATXN2, ATXN7, TBP and C9orf72. In a sample of patients in whom HD and HDL2 had been excluded, a single expansion was identified in the ATXN2 gene, confirming a diagnosis of Spinocerebellar ataxia 2. The results indicate that common repeat expansion disorders do not contribute significantly to the HD-like phenotype in black South African patients. Importantly, allele sizing reveals unique distributions of normal repeat lengths across the associated loci in the African population studied. Copyright © 2018 Elsevier B.V. All rights reserved.

  14. AHSG tag single nucleotide polymorphisms associate with type 2 diabetes and dyslipidemia: studies of metabolic traits in 7,683 white Danish subjects

    DEFF Research Database (Denmark)

    Andersen, Gitte; Burgdorf, Kristoffer Sølvsten; Sparsø, Thomas

    2008-01-01

    been largely successful. We related seven frequent AHSG tag single nucleotide polymorphisms to a range of metabolic traits, including type 2 diabetes, obesity, and dyslipidemia. RESEARCH DESIGN AND METHODS: The polymorphisms were genotyped in 7,683 white Danish subjects using Taqman allelic...... with dyslipidemia (P = 0.003 and P(corr) = 0.009). Thr248Met (rs4917) tended to associate with lower fasting and post-oral glucose tolerance test serum insulin release (P = 0.02, P(corr) = 0.1 for fasting and P = 0.04, P(corr) = 0.2 for area under the insulin curve) and improved insulin sensitivity estimated...

  15. Association of vitamin D receptor gene polymorphisms with diabetic dyslipidemia in the elderly male population in North China

    Directory of Open Access Journals (Sweden)

    Xia Z

    2017-10-01

    Full Text Available Zheng Xia,1,* Yazhuo Hu,1,* Zhitao Han,1 Ya Gao,1 Jie Bai,2 Yao He,1 Hua Zhao,3 Honghong Zhang1 1Institute of Geriatrics, Beijing Key Laboratory of Normal Aging and Geriatrics, 2Cinical Laboratory in South Building, Chinese PLA General Hospital & Chinese PLA Medical Academy, Beijing, China; 3Zhantansi Outpatient Department, Chinese PLA 309 Hospital, Beijing, China *These authors contributed equally to this work Background: The prevalence of dyslipidemia is rising alarmingly in elderly Han Chinese male patients with type 2 diabetes mellitus (T2DM. The genetic factors that contribute to the development of diabetic dyslipidemia remain incompletely identified. This study was conducted to assess the association between vitamin D receptor (VDR polymorphisms and development of dyslipidemia in the Han elderly male population with T2DM in North China.Methods: A total of 242 T2DM patients with dyslipidemia (DH group, n=108 or without dyslipidemia (DO group, n=134 and 100 controls were genotyped for ApaI, TaqI and FokI single nucleotide polymorphisms (SNPs of the VDR gene using polymerase chain reaction-restriction fragment length polymorphism and sequencing. The frequency and distribution of the SNPs were compared between cases and controls.Results: The distribution of genotypes of VDR-FokI was significantly different between the control and DM group (P=0.033, as well as between the control and DH subgroup (P=0.011 but not DO subgroup (P=0.111. The frequency of C allele and CC genotype of FokI was significantly higher in the DH patients than in the controls (P=0.015 and P=0.003, respectively. Logistic regression analysis in a dominant model homozygous for the C allele of the FokI SNP showed that CC genotype was associated with DH patients (OR =1.797, 95% CI: 1.077–2.999, P=0.025. Significant associations of the ApaI and TaqI SNPs with either DO or DH subjects were not observed.Conclusion: These findings suggest that CC genotype of VDR-FokI is a risk

  16. Korean turmeric is effective for dyslipidemia in human intervention study

    Directory of Open Access Journals (Sweden)

    Jin Hee Kim

    2016-09-01

    Conclusion: Oral consumption of TP alleviated dyslipidemia and changed metabolites patterns by accelerating metabolic activities with less oxidative stress in participants with mild liver dysfunction.

  17. Dyslipidemia in women with polycystic ovary syndrome.

    Science.gov (United States)

    Kim, Jin Ju; Choi, Young Min

    2013-05-01

    Dyslipidemia is a very common metabolic abnormality in women with polycystic ovary syndrome (PCOS). Insulin resistance is a key pathophysiology of PCOS, thus dyslipidemia in women with PCOS may be consistent with those found in an insulin resistant state. In recent meta-analysis, triglycerides and low-density lipoprotein (LDL) cholesterol levels were 26 mg/dL and 12 mg/dL higher, and high-density lipoprotein cholesterol concentration was 6 mg/dL lower in women with PCOS than those of controls. Alterations in LDL quality also have been reported in women with PCOS: women with PCOS have an increased proportion of atherogenic small dense LDL or decreased mean LDL particle size. However, in a recent Korean study, non-obese Korean women with PCOS had no significant quantitative or qualitative changes in LDL cholesterol profile. Lipoprotein (a) has been identified as an independent risk factor for coronary heart disease, and its elevation in PCOS patients has been consistently reported in diverse studies including non-obese Korean population. Some studies have investigated apolipoprotein (Apo) A-I and ApoC-I levels in women with PCOS and levels of ApoA-I, which has cardio-protective effects, were significantly lower in women with PCOS than those of controls. ApoC-I is known to increase the postprandial serum lipid level that is common in coronary artery disease patients, and one study reported that such an elevation may be the earliest variation of lipid abnormality in women with PCOS. In conclusion, women with PCOS should receive a complete lipid test, and lifestyle modification, including diet and exercise, is the first line therapy for all women with PCOS and is particularly important for those with dyslipidemia.

  18. [Association between venous thrombosis and dyslipidemia].

    Science.gov (United States)

    García Raso, Aránzazu; Ene, Gabriela; Miranda, Carolina; Vidal, Rosa; Mata, Raquel; Llamas Sillero, M Pilar

    2014-07-07

    Venous and arterial thrombosis, despite being historically considered as distinct conditions, share certain risk factors. Dyslipidemia is a clinical condition with a relatively high prevalence in the population and has been associated with an increased thrombotic risk. Lipids and lipoproteins modulate the expression and/or function of thrombotic, fibrinolytic and rheological factors. We have developed a descriptive, retrospective, comparative, cross-sectional study including a group of 313 patients with venous thromboembolism (VTE). We collected basic demographic data, cardiovascular risk factors and thrombotic complications. All patients were subjected to a lipid profile study with determination of total cholesterol, high density lipoprotein cholesterol (cHDL), low density lipoprotein cholesterol (cLDL) and triglycerides. The multivariable analysis showed that dyslipidemia was a risk factor for VTE (odds ratio [OR] 3.87, 95% confidence interval [95% CI] 2.72-5.56; P<.0001). Of a total of 313 patients included in the study, 31% (n=97) had a recurrent thrombotic event and 23% (n=72) developed post-thrombotic syndrome. cHDL levels below 35 mg/dl and cLDL levels higher than 180 mg/dl represented risk factors for the development of recurrent thrombosis, OR 3.12 (95% CI 1.35-7.74; P=.008) and OR 2.35 (95% CI 1.24-4.45; P=.008), respectively, and post-thrombotic syndrome, OR 3.44 (95% CI 1.43-8.83; P=.005) and OR 2.35 (95% CI 1.24-4.45; P=.008). Our study confirmed the association between dyslipidemia and VTE and showed a risk of thrombosis nearly 4 times higher in individuals with this disease. In addition, alterations in the lipid profile were also related to a higher prevalence of thrombotic complications, recurrence and post-thrombotic syndrome. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  19. Saroglitazar for the treatment of dyslipidemia in diabetic patients.

    Science.gov (United States)

    Joshi, Shashank R

    2015-03-01

    Diabetes and dyslipidemia are commonly associated modifiable risk factors for cardiovascular diseases. Majority of patients with diabetes also suffer from dyslipidemia (diabetic dyslipidemia). Diabetic dyslipidemia is more atherogenic as it is commonly associated with high triglyceride (TG) levels, high proportion of small dense low-density lipoprotein cholesterol and low high-density lipoprotein cholesterol (HDL-C) level (atherogenic dyslipidemia). Currently used pharmacotherapies for the management of diabetes and dyslipidemia like thiazolidinediones (PPAR-γ agonist; for insulin resistance) and fibrates (PPAR-α agonist; for hypertriglyceridemia) have many limitations and side effects. Saroglitazar , a dual PPAR-α/γ agonists, is an emerging therapeutic option with its dual benefit on glycemic and lipid parameters. This paper reviews the clinical development of saroglitazar for the management of diabetic dyslipidemia. The efficacy and safety profile of saroglitazar is reviewed in context to currently available therapy like pioglitazone for diabetes and fibrates for hypertriglyceridemia. In addition, this paper also reviews the association between diabetes and dyslipidemia and the role of TG in reducing cardiovascular events. Saroglitazar, a dual PPAR-α/γ agonist, is a potential therapeutic option for the management of diabetic dyslipidemia. It has dual benefit of significant improvement in glycemic parameters (glycated hemoglobin and fasting blood glucose) and significant improvement in dyslipidemia (TGs, apolipoprotein B, non-HDL-C). The results of Phase III clinical trials indicate that saroglitazar is devoid of conventional side effects of fibrates and pioglitazone. Future clinical trials of saroglitazar will further establish its place in the management of diabetes, dyslipidemia and associated cardiovascular risk.

  20. Cadmium Exposure is Associated with the Prevalence of Dyslipidemia.

    Science.gov (United States)

    Zhou, Zhou; Lu, Yong-Hui; Pi, Hui-Feng; Gao, Peng; Li, Min; Zhang, Lei; Pei, Li-Ping; Mei, Xiang; Liu, Lin; Zhao, Qi; Qin, Qi-Zhong; Chen, Yu; Jiang, Yue-Ming; Zhang, Zhao-Hui; Yu, Zheng-Ping

    2016-01-01

    Cadmium is a widespread environmental and occupational pollutant that accumulates in human body with a biological half-life exceeding 10 years. Cadmium exposure has been demonstrated to increase rates of cardiovascular diseases. Whether occupational cadmium exposure is associated with the increase in the prevalence of dyslipidemia and hence contributes to the risk of cardiovascular diseases is still equivocal. To test the hypothesis that exposure to cadmium is related to the prevalence of dyslipidemia, we examined the associations between blood cadmium concentration and the prevalence of dyslipidemia in workers occupationally exposed to cadmium in China. A cross-sectional survey on demographic data, blood cadmium level and lipid profile in cadmium exposed workers from seven cadmium smelting factories in central and southwestern China was conducted. We measured blood cadmium concentration and lipid components of 1489 cadmium exposed workers. The prevalence of dyslipidemia was compared across blood cadmium quartiles. Associations between the blood cadmium concentrations and the prevalence of dyslipidemia were assessed using confounder adjusted linear and logistic regressions. The blood cadmium concentration was 3.61±0.84µg/L ( mean ±SD). The prevalence of dyslipidemia in this occupational population was 66.3%. Mean blood cadmium concentration of workers with dyslipedemia was significantly higher than that of workers without dyslipidemia (p dyslipidemia increased dose-dependently with elevations in blood cadmium concentrations (p for trend dyslipidemia across the increasing blood cadmium quartiles were 1.21(1.16-1.55), 1.56(1.11-1.87), 1.79(1.26-2.25) respectively (referencing to 1.00; p for trend dyslipidemia remained unchanged (all p for trend dyslipidemia. Cadmium exposure could alter lipid metabolism in humans. It is imperative to control cadmium exposure of occupational population in cadmium related industries and reduce adverse health effects. © 2016 The

  1. Analysis of the CCR5 gene coding region diversity in five South American populations reveals two new non-synonymous alleles in Amerindians and high CCR5*D32 frequency in Euro-Brazilians

    Directory of Open Access Journals (Sweden)

    Angelica B.W. Boldt

    2009-01-01

    Full Text Available The CC chemokine receptor 5 (CCR5 molecule is an important co-receptor for HIV. The effect of the CCR5*D32 allele in susceptibility to HIV infection and AIDS disease is well known. Other alleles than CCR5*D32 have not been analysed before, neither in Amerindians nor in the majority of the populations all over the world. We investigated the distribution of the CCR5 coding region alleles in South Brazil and noticed a high CCR5*D32 frequency in the Euro-Brazilian population of the Paraná State (9.3%, which is the highest thus far reported for Latin America. The D32 frequency is even higher among the Euro-Brazilian Mennonites (14.2%. This allele is uncommon in Afro-Brazilians (2.0%, rare in the Guarani Amerindians (0.4% and absent in the Kaingang Amerindians and the Oriental-Brazilians. R223Q is common in the Oriental-Brazilians (7.7% and R60S in the Afro-Brazilians (5.0%. A29S and L55Q present an impaired response to b-chemokines and occurred in Afro- and Euro-Brazilians with cumulative frequencies of 4.4% and 2.7%, respectively. Two new non-synonymous alleles were found in Amerindians: C323F (g.3729G > T in Guarani (1.4% and Y68C (g.2964A > G in Kaingang (10.3%. The functional characteristics of these alleles should be defined and considered in epidemiological investigations about HIV-1 infection and AIDS incidence in Amerindian populations.

  2. Association of a polymorphism of BTN2A1 with dyslipidemia in East Asian populations

    Science.gov (United States)

    FUJIMAKI, TETSUO; KATO, KIMIHIKO; OGURI, MITSUTOSHI; YOHIDA, TETSURO; HORIBE, HIDEKI; YOKOI, KIYOSHI; WATANABE, SACHIRO; SATOH, KEI; AOYAGI, YUKITOSHI; TANAKA, MASASHI; YOSHIDA, HIROTO; SHINKAI, SHOJI; NOZAWA, YOSHINORI; SHIN, DONG-JIK; LEE, JONG HO; JANG, YANGSOO; YAMADA, YOSHIJI

    2011-01-01

    We previously identified rs6929846 of the butyrophilin, subfamily 2, member A1 gene (BTN2A1) as a susceptibility locus for myocardial infarction in Japanese individuals by a genome-wide association study. The aim of the present study was to examine the relation of the rs6929846 polymorphism of BTN2A1 to dyslipidemia in Japanese and Korean populations, given that dyslipidemia is an important risk factor for myocardial infarction. A total of 10,953 individuals from three independent subject panels were examined. The relations of the rs6929846 polymorphism of BTN2A1 to serum concentrations of triglycerides, high-density lipoprotein (HDL)-cholesterol and low-density lipoprotein (LDL)-cholesterol were examined in each subject panel. The C→T polymorphism (rs6929846) of BTN2A1 was significantly associated with serum concentrations of triglycerides in Japanese subject panels A (P=0.0004) and B (P=0.0010), and in the Korean population (P=0.0095), with the minor T allele being related to an increased serum concentration of triglycerides. The rs6929846 was associated with serum concentrations of HDL-cholesterol in Japanese subject panels A (P=0.0047) and B (P=0.0015), with the T allele being related to a decreased serum concentration of HDL-cholesterol, but not in the Korean population. This polymorphism was associated with the serum concentration of LDL-cholesterol only in Japanese subject panel B (P=0.0059), with the T allele being related to an increased serum concentration of LDL-cholesterol. The results suggest that BTN2A1 may be a susceptibility gene for hypertriglyceridemia in East Asian populations and for low serum HDL-cholesterol in the Japanese population. PMID:22977569

  3. Interaction of cholesterol ester transfer protein polymo- rphisms, body mass index, and birth weight with the risk of dyslipidemia in children and adolescents: the CASPIAN-III study

    Directory of Open Access Journals (Sweden)

    Motahar Heidari-Beni

    2015-11-01

    Full Text Available Objective(s: This study aims to investigate joint association between cholesterol ester transfer protein (CETP polymorphisms and body mass index (BMI or birth weight with the risk of dyslipidemia in Iranian children and adolescents. Materials and Methods:This study was conducted as a sub-study of the “school-based nationwide health survey” (CASPIAN-III. We randomly selected 750 samples from the whole blood samples. Real-time PCR and high resolution melt (HRM analysis were performed to determine Taq1B (rs708272 and A373P (rs5880 polymorphisms. Results:Taq1B polymorphism increased HDL-C, and total cholesterol (TC as well as decreased triglyceride and LDL-C concentrations. LDL-C and triglyceride levels were significantly higher and HDL-C and TC levels were significantly lower among those with A373P polymorphism. CT/TT genotype in Taq1B polymorphism showed a protective effect on dyslipidemia (OR= 0.12, 95%CI: 0.07-0.20. G allele of A373P polymorphism increased the risk of dyslipidemia (OR=4.10, 95%CI: 2.14, 7.83 after adjusting the confounders. We observed interactive effects of CETP gene polymorphisms and BMI or birth weight on dyslipidemia. Conclusion:Findings showed Taq1B polymorphism might have a protective effect and A373P polymorphism had deleterious effect on dyslipidemia in Iranian children and adolescents. These associations interacted with BMI and birth weight.

  4. Family-based transmission disequilibrium test (TDT) and case-control association studies reveal surfactant protein A (SP-A) susceptibility alleles for respiratory distress syndrome (RDS) and possible race differences

    NARCIS (Netherlands)

    Floros, J.; Fan, R.; Matthews, A.; DiAngelo, S.; Luo, J.; Nielsen, H.; Dunn, M.; Gewolb, I. H.; Koppe, J.; Van Sonderen, L.; Farri-Kostopoulos, L.; Tzaki, M.; Rämet, M.; Merrill, J.

    2001-01-01

    A key cause of respiratory distress syndrome (RDS) in the prematurely born infant is deficiency of pulmonary surfactant, a lipoprotein complex. Both low levels of surfactant protein A (SP-A) and SP-A alleles have been associated with RDS. Using the candidate gene approach, we performed family-based

  5. Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia[S

    Science.gov (United States)

    Medeiros, Ana Margarida; Alves, Ana Catarina; Aguiar, Pedro; Bourbon, Mafalda

    2014-01-01

    The distinction between a monogenic dyslipidemia and a polygenic/environmental dyslipidemia is important for the cardiovascular risk assessment, counseling, and treatment of these patients. The present work aims to perform the cardiovascular risk assessment of dyslipidemic children to identify useful biomarkers for clinical criteria improvement in clinical settings. Main cardiovascular risk factors were analyzed in a cohort of 237 unrelated children with clinical diagnosis of familial hypercholesterolemia (FH). About 40% carried at least two cardiovascular risk factors and 37.6% had FH, presenting mutations in LDLR and APOB. FH children showed significant elevated atherogenic markers and lower concentration of antiatherogenic particles. Children without a molecular diagnosis of FH had higher levels of TGs, apoC2, apoC3, and higher frequency of BMI and overweight/obesity, suggesting that environmental factors can be the underlying cause of their hypercholesterolem≥ia. An apoB/apoA1 ratio ≥0.68 was identified as the best biomarker (area under the curve = 0.835) to differentiate FH from other dyslipidemias. The inclusion in clinical criteria of a higher cut-off point for LDL cholesterol or an apoB/apoA1 ratio ≥0.68 optimized the criteria sensitivity and specificity. The correct identification, at an early age, of all children at-risk is of great importance so that specific interventions can be implemented. apoB/apoA1 can improve the identification of FH patients. PMID:24627126

  6. Fructose, insulin resistance, and metabolic dyslipidemia

    Directory of Open Access Journals (Sweden)

    Adeli Khosrow

    2005-02-01

    Full Text Available Abstract Obesity and type 2 diabetes are occurring at epidemic rates in the United States and many parts of the world. The "obesity epidemic" appears to have emerged largely from changes in our diet and reduced physical activity. An important but not well-appreciated dietary change has been the substantial increase in the amount of dietary fructose consumption from high intake of sucrose and high fructose corn syrup, a common sweetener used in the food industry. A high flux of fructose to the liver, the main organ capable of metabolizing this simple carbohydrate, perturbs glucose metabolism and glucose uptake pathways, and leads to a significantly enhanced rate of de novo lipogenesis and triglyceride (TG synthesis, driven by the high flux of glycerol and acyl portions of TG molecules from fructose catabolism. These metabolic disturbances appear to underlie the induction of insulin resistance commonly observed with high fructose feeding in both humans and animal models. Fructose-induced insulin resistant states are commonly characterized by a profound metabolic dyslipidemia, which appears to result from hepatic and intestinal overproduction of atherogenic lipoprotein particles. Thus, emerging evidence from recent epidemiological and biochemical studies clearly suggests that the high dietary intake of fructose has rapidly become an important causative factor in the development of the metabolic syndrome. There is an urgent need for increased public awareness of the risks associated with high fructose consumption and greater efforts should be made to curb the supplementation of packaged foods with high fructose additives. The present review will discuss the trends in fructose consumption, the metabolic consequences of increased fructose intake, and the molecular mechanisms leading to fructose-induced lipogenesis, insulin resistance and metabolic dyslipidemia.

  7. Epidemiology of Dyslipidemia in the Asia Pacific Region

    Directory of Open Access Journals (Sweden)

    Chao-Feng Lin

    2018-03-01

    Full Text Available Summary: Dyslipidemia, including high levels of total cholesterol, low-density lipoprotein cholesterol, and triglyceride, and low levels of high-density lipoprotein cholesterol, is a major risk factor of atherosclerosis that leads to various cardiovascular diseases. This article compares the epidemiology of dyslipidemia among countries of the Asia Pacific region, including Australia, China, Indonesia, Japan, Korea, Malaysia, New Zealand, Singapore, Thailand, and Taiwan, based on public-accessible data from websites. Sources of lipid management guidelines of the countries are also summarized. Before comparing the data from each of the countries, the readers should pay attention to the impact of lipid testing methods, medication use, the year of data acquisition, the age range of the examinees, and the definition of dyslipidemia in each country. Apart from the mentioned factors that may affect the epidemiology data, some of the countries have unique features. For example, substantial ethnic differences existed in Indonesia and Malaysia; whereas the reports from China and Thailand exhibited significant regional variations. However, a common feature is that the levels of serum lipids change with age, and men and women may have quite different levels of serum lipids even of the same age range. Nevertheless, there is a lot of room for improvement in the awareness, treatment, and control rate of dyslipidemia. To reduce the prevalence of dyslipidemia and promote cardiovascular health, the epidemiological surveys of dyslipidemia and implementation of management guidelines according to their own national conditions are encouraged. Keywords: Asia Pacific region, dyslipidemia, epidemiology

  8. The burden and management of dyslipidemia: practical issues.

    Science.gov (United States)

    Schultz, Alyssa B; Chen, Chin-Yu; Burton, Wayne N; Edington, Dee W

    2012-10-01

    The objective of this study is to describe briefly the burden of dyslipidemia, and to discuss and present strategies for health professionals to improve dyslipidemia management, based on a review of selected literature focusing on interventions for dyslipidemia treatment adherence. Despite the availability of effective lifestyle and pharmaceutical therapies for dyslipidemias, they continue to present a significant economic burden in the United States. Adherence to evidence-based guidelines for the treatment of dyslipidemias is unsatisfactory. The reasons for medication nonadherence are complex and specific to each patient. The lack of progress in achieving optimal lipid targets is caused by many factors: patient (medication adherence, cost of medication, literacy), medication (adverse effects, complexity of regimen), provider (lack of adherence to evidence-based practice guidelines, poor communication), and the US healthcare system (being focused on acute care rather than prevention, lack of continuity of care, general lack of use of an electronic health record). Combined interventions that target each part of the system have been effective in improving treatment adherence and achieving lipid goals. Patients, providers, pharmacists, and employers all play a role in management of dyslipidemia. No single approach will solve the complex issue of improving dyslipidemia management. The required lifestyle changes are known and effective medications are available. The challenge is for all interested parties-including nurses, nurse practitioners, doctors, pharmacists, other health care professionals, employers, and health plans-to help patients achieve behavioral changes.

  9. Targeted next-generation sequencing in monogenic dyslipidemias.

    Science.gov (United States)

    Hegele, Robert A; Ban, Matthew R; Cao, Henian; McIntyre, Adam D; Robinson, John F; Wang, Jian

    2015-04-01

    To evaluate the potential clinical translation of high-throughput next-generation sequencing (NGS) methods in diagnosis and management of dyslipidemia. Recent NGS experiments indicate that most causative genes for monogenic dyslipidemias are already known. Thus, monogenic dyslipidemias can now be diagnosed using targeted NGS. Targeting of dyslipidemia genes can be achieved by either: designing custom reagents for a dyslipidemia-specific NGS panel; or performing genome-wide NGS and focusing on genes of interest. Advantages of the former approach are lower cost and limited potential to detect incidental pathogenic variants unrelated to dyslipidemia. However, the latter approach is more flexible because masking criteria can be altered as knowledge advances, with no need for re-design of reagents or follow-up sequencing runs. Also, the cost of genome-wide analysis is decreasing and ethical concerns can likely be mitigated. DNA-based diagnosis is already part of the clinical diagnostic algorithms for familial hypercholesterolemia. Furthermore, DNA-based diagnosis is supplanting traditional biochemical methods to diagnose chylomicronemia caused by deficiency of lipoprotein lipase or its co-factors. The increasing availability and decreasing cost of clinical NGS for dyslipidemia means that its potential benefits can now be evaluated on a larger scale.

  10. AllelicImbalance: An R/ bioconductor package for detecting, managing, and visualizing allele expression imbalance data from RNA sequencing

    DEFF Research Database (Denmark)

    Gådin, Jesper R.; van't Hooft, Ferdinand M.; Eriksson, Per

    2015-01-01

    the possible biases. Results: We present AllelicImblance, a software program that is designed to detect, manage, and visualize allelic imbalances comprehensively. The purpose of this software is to allow users to pose genetic questions in any RNA sequencing experiment quickly, enhancing the general utility...... of RNA sequencing. The visualization features can reveal notable, non-trivial allelic imbalance behavior over specific regions, such as exons. Conclusions: The software provides a complete framework to perform allelic imbalance analyses of aligned RNA sequencing data, from detection to visualization...

  11. The PNPLA3 rs738409 G-allele associates with reduced fasting serum triglyceride and serum cholesterol in Danes with impaired glucose regulation

    DEFF Research Database (Denmark)

    Krarup, Nikolaj Thure; Grarup, Niels; Banasik, Karina

    2012-01-01

    Non-alcoholic fatty liver disease (NAFLD) is a common condition, associated with hepatic insulin resistance and the metabolic syndrome including hyperglycaemia and dyslipidemia. We aimed at studying the potential impact of the NAFLD-associated PNPLA3 rs738409 G-allele on NAFLD-related metabolic...

  12. Dyslipidemias in type 2 diabetes mellitus patients in Nnewi South ...

    African Journals Online (AJOL)

    Ramakantb

    Conclusion: Dyslipidemia is highly prevalent among type 2 diabetic patients in Nigeria with the majority of the patients having ... in type 2 diabetic patients seen in the medical unit of the ... informed consent obtained in each case and then.

  13. Lead induced dyslipidemia: The comparative effects of ascorbate ...

    African Journals Online (AJOL)

    R.N. UGBAJA

    2013-04-10

    Apr 10, 2013 ... Key words: Ascorbate, chelating agents, dyslipidemia, lead exposure, plumbism. .... elements like iron, zinc, calcium and a host of other divalent elements in ..... cholesterol synthesis and transport pathways may be adversely ...

  14. Lead induced dyslipidemia: The comparative effects of ascorbate ...

    African Journals Online (AJOL)

    The blood lipid profiles were determined spectrophotometrically. Lead exposure resulted in significant dyslipidemia (p < 0.05), characterized by 50% hypercholesterolemia and hypertriglyceridemia and 132% hyperphospholipidemia (plasma) while in the red blood cells, hypocholesterolemia and hypophospholipidemia ...

  15. Sarcopenic obesity and dyslipidemia response to selective exercise ...

    African Journals Online (AJOL)

    Maged A. Basha

    2015-01-28

    Jan 28, 2015 ... physical therapy approach in treatment of sarcopenic obesity and dyslipidemia after liver transplantation. Subjects .... fasting and were asked to empty their bladders before mea- surements. ..... RA, et al. Continuous low- to.

  16. Prevalence of dyslipidemia and obesity among college students in ...

    African Journals Online (AJOL)

    Hana T. AlMajed

    2011-06-08

    Jun 8, 2011 ... The relation between overweight/obesity and dyslipidemia has been approved. Objective: .... was considered if the participant is currently under medication .... Childhood obesity in Kuwait: prevalence and trends. Fam Med.

  17. [Diabetes and dyslipidemia: Why are they so closely related?

    Science.gov (United States)

    Rašlová, Katarína

    Diabetes mellitus is a group of metabolic diseases that are characterized by hyperglycemia resulting from defects in insulin secretion, insulin action, or both. The cause of premature death among patients with diabetes predominantly involves cardiovascular diseases. The risk of death from cardiovascular complications is so high that diabetes mellitus is considered a risk equivalent to a manifest atherosclerotic disease. High cardiovascular risk is also determined by dyslipidemia which is present in a large number of patients with diabetes. The review is devoted to the pathogenesis of dyslipidemia in type 1 and type 2 diabetes with an emphasis on atherogenic dyslipidemia. It describes the strategy of therapeutic procedures and their effect on cardiovascular morbidity and mortality.Key words: atherogenic dyslipidemia - fibrates - statins - type 2 diabetes mellitus.

  18. Frequency of secondary dyslipidemia in obese children

    Directory of Open Access Journals (Sweden)

    Ulrike Korsten-Reck

    2008-10-01

    Full Text Available Ulrike Korsten-Reck1, Katrin Kromeyer-Hauschild2, Katrin Korsten1, Manfred W Baumstark1, Hans-H Dickhuth1, Aloys Berg11Department of Rehabilitative and Preventive Sports Medicine, University Medical Center, University of Freiburg, 79106 Freiburg, Germany; 2Institute of Human Genetics and Anthropology, Friedrich-Schiller-University Jena, 07740 Jena, GermanyObjective: This paper reports the frequency, type, and degree of dyslipidemia in obese children before therapeutic intervention. The relationships between lipid values and weight status, as well as lipid values and physical fitness, of these children were also investigated.Design and methods: The initial examination of the Freiburg Intervention Trial for Obese Children (FITOC measured the values of triglycerides (TG, total cholesterol (C, low-density lipoprotein cholesterol (LDL-C, and high-density lipoprotein cholesterol (HDL-C in 546 obese children aged 7–12 (body mass index [BMI] > 97th percentile, and compared these values with those of the age- and sex-specific reference group in the Lipid Research Clinics Population Studies Data Book (LRC. Four groups were selected according to the following scheme: A, Normolipidemia; B, Hyper-LDL-cholesterolemia alone; C, Hypo-HDL-C + hypertriglyceridemia; D, Combined hyperlipidemia = Hyper-LDL-C + hypertriglyceridemia. Body mass index, BMI-SDS (corrected BMI, and physical performance in watt/kg body weight were measured.Results: A total of 45.8% of the overweight children showed an abnormal lipid profile. Ten percent of the children had high LDL-C levels (group B, while 15% had increased LDL-C and increased TG (group D (higher prevalence in boys. In 18.9% we found increased TG, combined with decreased HDL-C values (group C.Conclusion: Obese children are at risk of dyslipoproteinemia and related diseases. Children with the highest BMI-SDS and lowest physical fitness have the lowest HDL-C values and increased TG, indicating a higher risk for the

  19. [Associations of sedentary behavior and physical activity with dyslipidemia].

    Science.gov (United States)

    Zhou, J; Zhou, Q; Wang, D P; Zhang, T; Wang, H J; Song, Y; He, H Z; Wang, M; Wang, P Y; Liu, A P

    2017-06-18

    To analyze associations of sedentary behavior and physical activity with dyslipidemia among residents in Wuhai city. Data about social demographic characteristics, life style, health status and other covariate required for analysis in this study was obtained from a cross-sectional study on a total of 11 497 18-79 years old residents in Wuhai City by questionnaire, body mea-surement and laboratory examination. In this study, sedentary behavior and physical activity were evaluated using international physical activity questionnaire long version (IPAQ). IPAQ is widely used all over the world, and its reliability and validity have been tested in Chinese population. 2016 Chinese Guideline for the Management of Dyslipidemia in Adults was used to define dyslipidemia in this study. According to IPAQ scoring protocol, 124 participants were excluded as a result of reporting more than 960 min of physical activity per day. 50.58% of 11 373 participants included in the analysis reported more than 4 hours of sedentary behavior per day in this study, thus 49.42% participants reported no more than 4 hours of sedentary behavior per day; the proportions of these 11 373 participants who reached Low level physical activity, Moderate level physical activity and high level physical activity were 23.43%, 37.29% and 39.28% respectively; and the detection ratios of new cases and prevalent cases of dyslipidemia in Wuhai City were 20.46% and 16.13% respectively. After controlling for confounders in this study, we found out that sedentary behavior increased the risk of new cases of dyslipidemia in women (OR=1.17, 95% CI: 1.00-1.36), and increased the risk of prevalent cases of dyslipidemia in both men (OR=1.21, 95% CI: 1.02-1.44) and women (OR=1.24, 95% CI: 1.04-1.48); as for association of physical activity with dyslipidemia, association was found between high level physical activity and prevalent cases of dyslipidemia in men in this study (OR=0.78, 95% CI: 0.62-0.98), suggested that high

  20. Cadmium Exposure is Associated with the Prevalence of Dyslipidemia

    Directory of Open Access Journals (Sweden)

    Zhou Zhou

    2016-11-01

    Full Text Available Background: Cadmium is a widespread environmental and occupational pollutant that accumulates in human body with a biological half-life exceeding 10 years. Cadmium exposure has been demonstrated to increase rates of cardiovascular diseases. Whether occupational cadmium exposure is associated with the increase in the prevalence of dyslipidemia and hence contributes to the risk of cardiovascular diseases is still equivocal. To test the hypothesis that exposure to cadmium is related to the prevalence of dyslipidemia, we examined the associations between blood cadmium concentration and the prevalence of dyslipidemia in workers occupationally exposed to cadmium in China. Methods: A cross-sectional survey on demographic data, blood cadmium level and lipid profile in cadmium exposed workers from seven cadmium smelting factories in central and southwestern China was conducted. We measured blood cadmium concentration and lipid components of 1489 cadmium exposed workers. The prevalence of dyslipidemia was compared across blood cadmium quartiles. Associations between the blood cadmium concentrations and the prevalence of dyslipidemia were assessed using confounder adjusted linear and logistic regressions. Results: The blood cadmium concentration was 3.61±0.84µg/L ( mean ±SD. The prevalence of dyslipidemia in this occupational population was 66.3%. Mean blood cadmium concentration of workers with dyslipedemia was significantly higher than that of workers without dyslipidemia (p Conclusion: Elevated blood cadmium concentration is associated with prevalence of dyslipidemia. Cadmium exposure could alter lipid metabolism in humans. It is imperative to control cadmium exposure of occupational population in cadmium related industries and reduce adverse health effects.

  1. Mixed dyslipidemias in primary care patients in France

    Science.gov (United States)

    Laforest, Laurent; Ambegaonkar, Baishali M; Souchet, Thierry; Sazonov, Vasilisa; Van Ganse, Eric

    2012-01-01

    Objective To determine the prevalence of single and mixed dyslipidemias among patients treated with statins in clinical practice in France. Methods This is a prospective, observational, cross-sectional, pharmacoepidemiologic study with a total of 2544 consecutive patients treated with a statin for at least 6 months. Main outcome measures Prevalence of isolated and mixed dyslipidemias of low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), and triglycerides among all patients and among patients at high cardiovascular risk; clinical variables associated with attainment of lipid targets/normal levels in French national guidelines. Results At least one dyslipidemia was present in 50.8% of all patients and in 71.1% of high-risk patients. Dyslipidemias of LDL-C, HDL-C, and triglycerides were present in 27.7%, 12.4%, and 28.7% of all patients, respectively, and in 51.0%, 18.2%, and 32.5% of high-risk patients, respectively. Among all subjects with any dyslipidemia, 30.9% had mixed dyslipidemias and 69.4% had low HDL-C and/or elevated triglycerides, while 30.6% had isolated elevated LDL-C; corresponding values for high-risk patients were 36.8%, 58.9%, and 41.1%. Age, gender, body mass index and Framingham Risk Score >20% were the factors significantly associated with attainment of normal levels for ≥2 lipid levels. Conclusions At least one dyslipidemia persisted in half of all patients and two-thirds of high cardiovascular risk patients treated with a statin. Dyslipidemias of HDL-C and/or triglycerides were as prevalent as elevated LDL-C among high cardiovascular risk patients. PMID:22566746

  2. Dyslipidemia in systemic lupus erythematosus: just another comorbidity?

    Science.gov (United States)

    Tselios, Konstantinos; Koumaras, Charalambos; Gladman, Dafna D; Urowitz, Murray B

    2016-04-01

    Among traditional atherosclerotic risk factors, dyslipidemia is believed to decisively affect the long-term prognosis of lupus patients, not only with regard to cardiovascular events but also by influencing other manifestations, such as lupus nephritis. The aim of this study was to review the epidemiology, pathogenesis, evidence for its impact on atherosclerosis manifestations and management of dyslipidemia in lupus patients. English-restricted MEDLINE database search (Medical Subject Headings: lupus or systemic lupus erythematosus and dyslipidemia or hyperlipidemia). The prevalence of dyslipidemia in systemic lupus erythematosus (SLE) ranges from 36% at diagnosis to 60% or even higher after 3 years, depending on definition. Multiple pathogenetic mechanisms are implicated, including antibodies against lipoprotein lipase and cytokines affecting the balance between pro- and anti-atherogenic lipoproteins. Dyslipidemia has a clear impact on clinical cardiovascular disease and surrogate markers for subclinical atherosclerosis. Moreover, it negatively affects end-organ damage (kidneys and brain). Treatment with statins yielded contradictory results as per minimizing cardiovascular risk. Dyslipidemia is a significant comorbidity of lupus patients with multiple negative effects in the long term. Its treatment represents a modifiable risk factor; prompt and adequate treatment can minimize unnecessary burden in lupus patients, thus reducing hospitalizations and their overall morbidity and mortality. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Dyslipidemia as a contributory factor in etiopathogenesis of diabetic neuropathy

    Directory of Open Access Journals (Sweden)

    Fakhir S Al-Ani

    2011-01-01

    Full Text Available Objectives: The pathogenesis of neuropathy in type 2 diabetes mellitus is multifactorial.Dyslipidemia may contribute to the development of diabetic neuropathy. This study aimed to assess the atherogenic lipid indices in type 2 diabetic patients with neuropathy.Material and Methods: Fifty-one patients with type 2 diabetes mellitus and 31 healthy subjects were studied in the Unit of Neurophysiology at the University Hospital of Medical College, Al-Nahrin University in Baghdad, Iraq, from January 2002 to January 2003. Neuropathy total symptom score (NTSS, neuropathy impairment score in the lower leg (NIS-LL, and electrophysiological study of sensory (ulnar and sural and motor (ulnar and common peroneal nerves were used to assess nerve function. Fasting venous blood was obtained from each participant for determination of lipid profile and atherogenic lipid ratios. Results: The frequency of high blood pressure was significantly higher in neuropathic patients. The electrophysiology study revealed significant decrease in conduction velocity of ulnar (sensory and motor components, sural, and common peroneal nerves. The minimum F-wave latency of motor nerve was significantly prolonged. Among the lipid fractions, only high-density lipoprotein-cholesterol was significantly reduced by 14% of healthy participant′s value. Atherogenic lipid ratios were significantly higher in diabetic patients than corresponding healthy ratios. Conclusion: Metabolic lipid disturbances in terms of atherogenicity co-existwith neuropathy in type 2 diabetes mellitus, irrespective of duration of disease.

  4. Acrolein consumption induces systemic dyslipidemia and lipoprotein modification

    International Nuclear Information System (INIS)

    Conklin, Daniel J.; Barski, Oleg A.; Lesgards, Jean-Francois; Juvan, Peter; Rezen, Tadeja; Rozman, Damjana; Prough, Russell A.; Vladykovskaya, Elena; Liu, SiQi; Srivastava, Sanjay; Bhatnagar, Aruni

    2010-01-01

    Aldehydes such as acrolein are ubiquitous pollutants present in automobile exhaust, cigarette, wood, and coal smoke. Such aldehydes are also constituents of several food substances and are present in drinking water, irrigation canals, and effluents from manufacturing plants. Oral intake represents the most significant source of exposure to acrolein and related aldehydes. To study the effects of short-term oral exposure to acrolein on lipoprotein levels and metabolism, adult mice were gavage-fed 0.1 to 5 mg acrolein/kg bwt and changes in plasma lipoproteins were assessed. Changes in hepatic gene expression related to lipid metabolism and cytokines were examined by qRT-PCR analysis. Acrolein feeding did not affect body weight, blood urea nitrogen, plasma creatinine, electrolytes, cytokines or liver enzymes, but increased plasma cholesterol and triglycerides. Similar results were obtained with apoE-null mice. Plasma lipoproteins from acrolein-fed mice showed altered electrophoretic mobility on agarose gels. Chromatographic analysis revealed elevated VLDL cholesterol, phospholipids, and triglycerides levels with little change in LDL or HDL. NMR analysis indicated shifts from small to large VLDL and from large to medium-small LDL with no change in the size of HDL particles. Increased plasma VLDL was associated with a significant decrease in post-heparin plasma hepatic lipase activity and a decrease in hepatic expression of hepatic lipase. These observations suggest that oral exposure to acrolein could induce or exacerbate systemic dyslipidemia and thereby contribute to cardiovascular disease risk.

  5. Acrolein consumption induces systemic dyslipidemia and lipoprotein modification

    Energy Technology Data Exchange (ETDEWEB)

    Conklin, Daniel J., E-mail: dj.conklin@louisville.ed [Diabetes and Obesity Center, University of Louisville, Louisville, KY 40202 (United States); Barski, Oleg A; Lesgards, Jean-Francois [Diabetes and Obesity Center, University of Louisville, Louisville, KY 40202 (United States); Juvan, Peter; Rezen, Tadeja; Rozman, Damjana [Centre for Functional Genomics and Bio-Chips (CFGBC), Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Zaloska 4, SI-1000 Ljubljana (Slovenia); Prough, Russell A [Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40202 (United States); Vladykovskaya, Elena; Liu, SiQi; Srivastava, Sanjay [Diabetes and Obesity Center, University of Louisville, Louisville, KY 40202 (United States); Bhatnagar, Aruni [Diabetes and Obesity Center, University of Louisville, Louisville, KY 40202 (United States); Department of Biochemistry and Molecular Biology, University of Louisville, Louisville, KY 40202 (United States)

    2010-02-15

    Aldehydes such as acrolein are ubiquitous pollutants present in automobile exhaust, cigarette, wood, and coal smoke. Such aldehydes are also constituents of several food substances and are present in drinking water, irrigation canals, and effluents from manufacturing plants. Oral intake represents the most significant source of exposure to acrolein and related aldehydes. To study the effects of short-term oral exposure to acrolein on lipoprotein levels and metabolism, adult mice were gavage-fed 0.1 to 5 mg acrolein/kg bwt and changes in plasma lipoproteins were assessed. Changes in hepatic gene expression related to lipid metabolism and cytokines were examined by qRT-PCR analysis. Acrolein feeding did not affect body weight, blood urea nitrogen, plasma creatinine, electrolytes, cytokines or liver enzymes, but increased plasma cholesterol and triglycerides. Similar results were obtained with apoE-null mice. Plasma lipoproteins from acrolein-fed mice showed altered electrophoretic mobility on agarose gels. Chromatographic analysis revealed elevated VLDL cholesterol, phospholipids, and triglycerides levels with little change in LDL or HDL. NMR analysis indicated shifts from small to large VLDL and from large to medium-small LDL with no change in the size of HDL particles. Increased plasma VLDL was associated with a significant decrease in post-heparin plasma hepatic lipase activity and a decrease in hepatic expression of hepatic lipase. These observations suggest that oral exposure to acrolein could induce or exacerbate systemic dyslipidemia and thereby contribute to cardiovascular disease risk.

  6. Allele coding in genomic evaluation

    Directory of Open Access Journals (Sweden)

    Christensen Ole F

    2011-06-01

    Full Text Available Abstract Background Genomic data are used in animal breeding to assist genetic evaluation. Several models to estimate genomic breeding values have been studied. In general, two approaches have been used. One approach estimates the marker effects first and then, genomic breeding values are obtained by summing marker effects. In the second approach, genomic breeding values are estimated directly using an equivalent model with a genomic relationship matrix. Allele coding is the method chosen to assign values to the regression coefficients in the statistical model. A common allele coding is zero for the homozygous genotype of the first allele, one for the heterozygote, and two for the homozygous genotype for the other allele. Another common allele coding changes these regression coefficients by subtracting a value from each marker such that the mean of regression coefficients is zero within each marker. We call this centered allele coding. This study considered effects of different allele coding methods on inference. Both marker-based and equivalent models were considered, and restricted maximum likelihood and Bayesian methods were used in inference. Results Theoretical derivations showed that parameter estimates and estimated marker effects in marker-based models are the same irrespective of the allele coding, provided that the model has a fixed general mean. For the equivalent models, the same results hold, even though different allele coding methods lead to different genomic relationship matrices. Calculated genomic breeding values are independent of allele coding when the estimate of the general mean is included into the values. Reliabilities of estimated genomic breeding values calculated using elements of the inverse of the coefficient matrix depend on the allele coding because different allele coding methods imply different models. Finally, allele coding affects the mixing of Markov chain Monte Carlo algorithms, with the centered coding being

  7. Diabetic Dyslipidemia Review: An Update on Current Concepts and Management Guidelines of Diabetic Dyslipidemia.

    Science.gov (United States)

    Dake, Andrew W; Sora, Nicoleta D

    2016-04-01

    Cardiovascular disease is the most common cause of morbidity and mortality in patients with diabetes and the major source of cost in the care of diabetes. Treatment of dyslipidemia with cholesterol-lowering medications has been shown to decrease cardiovascular events. However, available guidelines for the treatment of dyslipidemia often contain significant differences in their recommendations. Lipid guidelines from National Cholesterol Education Program Adult Treatment Panel III, American Association of Clinical Endocrinologists, American Diabetes Association and American Heart Association/American College of Cardiology were reviewed. In addition a literature review was performed using PubMed to research diabetic peculiarities to the topic of lipids. Summarized within this article are the aforementioned, commonly-used guidelines as they relate to diabetes, as well as information regarding the diabetic phenotype of dislipidemia and the association between statins and new-onset diabetes. While the multitude of guidelines and the differences between them may contribute to confusion for practitioners, they are best viewed as tools to help tailor appropriate treatment plans for individual patients. Copyright © 2016 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

  8. Allele coding in genomic evaluation

    DEFF Research Database (Denmark)

    Standen, Ismo; Christensen, Ole Fredslund

    2011-01-01

    Genomic data are used in animal breeding to assist genetic evaluation. Several models to estimate genomic breeding values have been studied. In general, two approaches have been used. One approach estimates the marker effects first and then, genomic breeding values are obtained by summing marker...... effects. In the second approach, genomic breeding values are estimated directly using an equivalent model with a genomic relationship matrix. Allele coding is the method chosen to assign values to the regression coefficients in the statistical model. A common allele coding is zero for the homozygous...... genotype of the first allele, one for the heterozygote, and two for the homozygous genotype for the other allele. Another common allele coding changes these regression coefficients by subtracting a value from each marker such that the mean of regression coefficients is zero within each marker. We call...

  9. Dyslipidemia patterns are differentially associated with dietary factors.

    Science.gov (United States)

    Song, SuJin; Paik, Hee Young; Park, Minseon; Song, YoonJu

    2016-08-01

    Dyslipidemia, a strong predictor of cardiovascular diseases, is prevalent among Korean adults, but little is known about the associations between overall lipid profiles and dietary factors. We identified dyslipidemia patterns among lipid indicators and examined dietary factors associated with dyslipidemia patterns in Korean adults. Subjects in this cross-sectional study were recruited from the Family Medicine Division or the Health Examination Center of the general hospital in Seoul between 2010 and 2012. Measurements of biochemical and dietary variables repeated three times were collected from a total of 138 subjects at 3- to 4-month intervals when the subjects visited the hospital. Dietary intake data were obtained using 24-h recalls. In order to estimate typical values for biochemical and dietary variables, the averages of repeated measures for each subject were calculated. To identify dyslipidemia patterns, factor analysis was used based on total cholesterol (TC), low-density lipoprotein cholesterol (LDLC), triglycerides (TG), and high-density lipoprotein cholesterol (HDLC). Two dyslipidemia patterns, (1) TC & LDLC and (2) TG & HDLC, were identified. Dietary fat and cholesterol intakes were positively associated with the TC & LDLC pattern score, but not associated with the TG & HDLC pattern score. The TG & HDLC pattern was significantly associated with low intakes of calcium, potassium, milk and dairy products. Two dyslipidemia patterns were associated with dietary factors in Korean adults. Further studies should investigate specific dietary recommendations according to lipid profiles in the prevention and management of dyslipidemia in Korea. Copyright © 2015 Elsevier Ltd and European Society for Clinical Nutrition and Metabolism. All rights reserved.

  10. Dyslipidemias as generating issue in Biochemistry classes

    Directory of Open Access Journals (Sweden)

    R. M. Lima

    2015-08-01

    Full Text Available The traditional didactic model is based on the transmission of the teacher's encyclopedic knowledge. In this model, the teaching of Science aims at the transmission of dominant values, regarded as absolute truths. The teacher is seen is an expert on scientific contents who transmits them to students without motivating them, and without taking into consideration their previous ideas and life experience. This model contributes to the formation of professionals who accept those values uncritically. An effective approach to break up this traditional teaching model in Biochemistry is the use of a generating issue. A Generating Issue is the starting point to the knowledge construction process which, in turn, replaces traditional models. Thus, this study aimed at developing a lesson for a 12th grade class at IF Fluminense on the following content: alcohol, carboxylic acid, ester, and esterification reaction, using dyslipidemias as the Generating Issue. To verify the value of such methodology in Biochemistry classroom, data was collected by applying a questionnaire and images with texts produced by students. In addition, they had a class based on the methodology known as Three Pedagogical Moments, proposed by Delizoicov et al. (2007. Several didactic resources designed by the authors were used, such as slide presentation, tridimensional molecular models, and a roulette game named “Bioquimicados”, based on the Facebook game “Perguntados” ("Trivia Crack". After this, students developed more grounded scientific concepts, making use of terms common in scientific language. This suggests that the use of the Generating Issue in a lesson based on problematization, and supported by a ludic activity, provided a meaningful contribution to improve the students' understanding of the scientific content. This type of non-traditional class promotes greater student motivation, resulting in meaningful learning.

  11. Visceral fat area is a strong predictor of leukocyte cell-derived chemotaxin 2, a potential biomarker of dyslipidemia.

    Directory of Open Access Journals (Sweden)

    Kumpei Tanisawa

    Full Text Available Leukocyte cell-derived chemotaxin 2 (LECT2 is a hepatokine linking obesity to skeletal muscle insulin resistance. Although previous studies reported that obesity was associated with high levels of circulating LECT2 in human, the associations of detailed body fat distribution with LECT2 levels have not been examined. Furthermore, although animal study suggested that exercise decreased circulating LECT2 levels, it remains unknown whether physical fitness is associated with LECT2 levels in human. We therefore examined the relationship of plasma LECT2 levels with various adiposity indices and cardiorespiratory fitness (CRF in middle-aged and elderly Japanese men. Furthermore, we examined the relationship of LECT2 levels with the presence of metabolic syndrome, hypertension, insulin resistance and dyslipidemia to determine the clinical significance of measuring circulating LECT2.This was a cross-sectional study of 143 Japanese men (age: 30-79 years. Participants' plasma LECT2 levels were measured by an enzyme-linked immunosorbent assay. To assess their abdominal fat distributions, visceral fat area (VFA and subcutaneous fat area (SFA were measured using magnetic resonance imaging. CRF was assessed by measuring peak oxygen uptake ([Formula: see text].All adiposity indices measured in this study were positively correlated with plasma LECT2 levels, while [Formula: see text] was negatively correlated with LECT2 levels after adjustment for age. The correlations, except for VFA were no longer significant with further adjustment for VFA. Stepwise multiple linear regression analysis revealed that VFA was the strongest predictor of plasma LECT2 levels. Plasma LECT2 levels differed based on the presence of metabolic syndrome and dyslipidemia, but not hypertension and insulin resistance. Logistic regression analyses revealed that plasma LECT2 levels were significantly associated with dyslipidemia independently of VFA; VFA was not significantly associated with

  12. Visceral fat area is a strong predictor of leukocyte cell-derived chemotaxin 2, a potential biomarker of dyslipidemia.

    Science.gov (United States)

    Tanisawa, Kumpei; Taniguchi, Hirokazu; Sun, Xiaomin; Ito, Tomoko; Kawakami, Ryoko; Sakamoto, Shizuo; Higuchi, Mitsuru

    2017-01-01

    Leukocyte cell-derived chemotaxin 2 (LECT2) is a hepatokine linking obesity to skeletal muscle insulin resistance. Although previous studies reported that obesity was associated with high levels of circulating LECT2 in human, the associations of detailed body fat distribution with LECT2 levels have not been examined. Furthermore, although animal study suggested that exercise decreased circulating LECT2 levels, it remains unknown whether physical fitness is associated with LECT2 levels in human. We therefore examined the relationship of plasma LECT2 levels with various adiposity indices and cardiorespiratory fitness (CRF) in middle-aged and elderly Japanese men. Furthermore, we examined the relationship of LECT2 levels with the presence of metabolic syndrome, hypertension, insulin resistance and dyslipidemia to determine the clinical significance of measuring circulating LECT2. This was a cross-sectional study of 143 Japanese men (age: 30-79 years). Participants' plasma LECT2 levels were measured by an enzyme-linked immunosorbent assay. To assess their abdominal fat distributions, visceral fat area (VFA) and subcutaneous fat area (SFA) were measured using magnetic resonance imaging. CRF was assessed by measuring peak oxygen uptake ([Formula: see text]). All adiposity indices measured in this study were positively correlated with plasma LECT2 levels, while [Formula: see text] was negatively correlated with LECT2 levels after adjustment for age. The correlations, except for VFA were no longer significant with further adjustment for VFA. Stepwise multiple linear regression analysis revealed that VFA was the strongest predictor of plasma LECT2 levels. Plasma LECT2 levels differed based on the presence of metabolic syndrome and dyslipidemia, but not hypertension and insulin resistance. Logistic regression analyses revealed that plasma LECT2 levels were significantly associated with dyslipidemia independently of VFA; VFA was not significantly associated with dyslipidemia

  13. Prevalence and factors associated with dyslipidemia after liver transplantation

    Directory of Open Access Journals (Sweden)

    Hélem de Sena Ribeiro

    2014-07-01

    Full Text Available Objective: to determine the prevalence of abnormal total cholesterol (TC, low density lipoprotein (LDL, high density lipoprotein (HDL and triglycerides in patients undergoing liver transplantation (LTx and to identify predictors of these disorders. Methods: cross-sectional study to assess the prevalence of dyslipidemia in patients undergoing LTx. Demographic, socioeconomic, clinical, anthropometric and dietetic data were collected to determine the association with dyslipidemia using univariate and multivariate statistical analysis. Results: 136 patients were evaluated, 68.1% of which had at least one type of dyslipidemia. The triglyceride level was high in 32.4% of cases, with low HDL in 49.3% of patients and high LDL levels in only 8.8%. High total cholesterol was observed in 16.2% of the study population and was associated with the recommendation for transplantation due to ethanolic cirrhosis (OR = 2.7 and a greater number of hours slept per night (OR = 1.5. Conclusion: many patients presented dyslipidemia after transplantation, demonstrating the need for interventions in relation to modifiable factors associated with dyslipidemias that can mitigate or prevent these disorders.

  14. The new dyslipidemia guidelines: what is the debate?

    Science.gov (United States)

    Anderson, Todd J; Mancini, G B John; Genest, Jacques; Grégoire, Jean; Lonn, Eva M; Hegele, Robert A

    2015-05-01

    Dyslipidemia is a major risk factor for the development of atherosclerotic disease. Therefore, lifestyle interventions and pharmacological approaches to decrease cholesterol are widely used in cardiovascular disease prevention. The introduction and widespread use of 3-hydroxy-3 methylglutaryl coenzyme A inhibitors (statins) for individuals at risk of atherosclerotic disease has been an important advance in cardiovascular care. There can be no doubt that better control of dyslipidemia, even in subjects whose low-density lipoprotein cholesterol level is not particularly high, has reduced overall event rates. On a background of lifestyle interventions, statins are routinely used to decrease risk along with aspirin and interventions to control hypertension and diabetes. More than other risk factors, the approach to the identification and treatment of dyslipidemia has been heterogeneous and widely debated. The recent release of the 2013 American College of Cardiology/American Heart Association dyslipidemia guidelines has reignited the controversy over the best approach for risk stratification and treatment. In this article we review the importance of statin therapy for global cardiovascular risk reduction, compare the Canadian Cardiovascular Society dyslipidemia guidelines with other standards, and discuss the points of debate. Despite the seeming variety of recommendations, their common link is a systematic approach to risk stratification and treatment, which will continue to benefit our patients at risk. Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  15. Dyslipidemia in HIV Infected Children Receiving Highly Active Antiretroviral Therapy.

    Science.gov (United States)

    Mandal, Anirban; Mukherjee, Aparna; Lakshmy, R; Kabra, Sushil K; Lodha, Rakesh

    2016-03-01

    To assess the prevalence of dyslipidemia and lipodystrophy in Indian children receiving non-nucleoside reverse transcriptase inhibitor (NNRTI) based highly active antiretroviral therapy (HAART) and to determine the associated risk factors for the same. The present cross-sectional study was conducted at a Pediatric Clinic of a tertiary care teaching center in India, from May 2011 through December 2012. HIV infected children aged 5-15 y were enrolled if they did not have any severe disease or hospital admission within last 3 mo or receive any medications known to affect the lipid profile. Eighty-one children were on highly active antiretroviral therapy (HAART) for at least 6 mo and 16 were receiving no antiretroviral therapy (ART). Participants' sociodemographic, nutritional, clinical, and laboratory data were recorded in addition to anthropometry and evidence of lipodystrophy. Fasting lipid profile, apolipoprotein A1 and B levels were done for all the children. Among the children on highly active antiretroviral therapy (HAART), 38.3 % had dyslipidemia and 80.2 % had lipodystrophy, while 25 % antiretroviral therapy (ART) naïve HIV infected children had dyslipidemia. No clinically significant risk factors could be identified that increased the risk of dyslipidemia or lipodystrophy in children on highly active antiretroviral therapy (HAART). There is a high prevalence of dyslipidemia and lipodystrophy in Indian children with HIV infection with an imminent need to establish facilities for testing and treatment of these children for metabolic abnormalities.

  16. Deficiency of 25-Hydroxyvitamin D and Dyslipidemia in Indian Subjects

    Directory of Open Access Journals (Sweden)

    Jaydip Ray Chaudhuri

    2013-01-01

    Full Text Available Background. Vitamin D deficiency is widespread throughout the world. Several reports have incriminated vitamin D deficiency as the cause of rickets, osteomalacia, and other chronic diseases. Recent studies have suggested a possible link between deficiency of 25-hydroxyvitamin D and dyslipidemia. Aim. To investigate the association between 25-hydroxyvitamin D deficiency and dyslipidemia in Indian subjects. Methodology. We recruited 150 asymptomatic consecutive subjects from patients’ attendees at the Departments of Neurology and Medicine in Yashoda Hospital, Hyderabad, India. Study period was from October 2011 to March 2012. All subjects underwent 25-hydroxyvitamin D assay by chemiluminescent microparticle immunoassay, fasting blood sugar and lipid profile, calcium, phosphorus, alkaline phosphatase, and C-reactive protein (CRP. Results. Out of 150 subjects, men were 82 (54.6%, and mean age was 49.4 (±15.6 years. Among risk factors, hypertension was noted in 63/150 (42%, 25-hydroxyvitamin D deficiency in 59/150 (39.3%, diabetes in 45/150 (30%, dyslipidemia in 60 (40%, smoking in 35/150 (23.3%, and alcoholism in 27/150 (18%. Deficiency of 25-hydroxyvitamin D was significantly associated with dyslipidemia (P=0.0001, mean serum glucose (P=0.0002 mean CRP (P=0.04, and mean alkaline phosphatase (P=0.01. Multivariate analysis showed that 25-hydroxyvitamin D deficiency was independently associated with dyslipidemia (odds ratio: 1.9; 95% CI : 1.1–3.5. Conclusions. We found that deficiency of 25-hydroxyvitamin D was independently associated with dyslipidemia in Indian subjects.

  17. Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia.

    Science.gov (United States)

    Spracklen, Cassandra N; Saftlas, Audrey F; Triche, Elizabeth W; Bjonnes, Andrew; Keating, Brendan; Saxena, Richa; Breheny, Patrick J; Dewan, Andrew T; Robinson, Jennifer G; Hoh, Josephine; Ryckman, Kelli K

    2015-07-01

    Large epidemiologic studies support the role of dyslipidemia in preeclampsia; however, the etiology of preeclampsia or whether dyslipidemia plays a causal role remains unclear. We examined the association between the genetic predisposition to dyslipidemia and risk of preeclampsia using validated genetic markers of dyslipidemia. Preeclampsia cases (n = 164) and normotensive controls (n = 110) were selected from live birth certificates to nulliparous Iowa women during the period August 2002 to May 2005. Disease status was verified by medical chart review. Genetic predisposition to dyslipidemia was estimated by 4 genetic risk scores (GRS) (total cholesterol (TC), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), and triglycerides) on the basis of established loci for blood lipids. Logistic regression analyses were used to evaluate the relationships between each of the 4 genotype scores and preeclampsia. Replication analyses were performed in an independent, US population of preeclampsia cases (n = 516) and controls (n = 1,097) of European ancestry. The GRS related to higher levels of TC, LDL-C, and triglycerides demonstrated no association with the risk of preeclampsia in either the Iowa or replication population. The GRS related to lower HDL-C was marginally associated with an increased risk for preeclampsia (odds ratio (OR) = 1.03, 95% confidence interval (CI) = 0.99-1.07; P = 0.10). In the independent replication population, the association with the HDL-C GRS was also marginally significant (OR = 1.03, 95% CI: 1.00-1.06; P = 0.04). Our data suggest a potential effect between the genetic predisposition to dyslipidemic levels of HDL-C and an increased risk of preeclampsia, and, as such, suggest that dyslipidemia may be a component along the causal pathway to preeclampsia. © American Journal of Hypertension, Ltd 2014. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  18. [Prevalence of dyslipidemia in the rural population of Gueoul (Senegal)].

    Science.gov (United States)

    Thiombiano, L P; Mbaye, A; Sarr, S A; Ngaide, A A; Kane, Ab; Diao, M; Kane, Ad; Ba, S A

    2016-04-01

    The cardiovascular risk factors are clearly increasing in developing countries. Among these factors, dyslipidemia is often found, this due to the change in behavioral and dietary habits (OMS, 2006). Dyslipidemia is a "primary or secondary pathological changes in serum lipids". It is a chronic and metabolic abnormality, characterized by persistently elevated TG, LDL-c, and a decrease in HDL (Attias et al., 2013-2014). The objective of this study is to determine the prevalence of dyslipidemia, and give the lipid profile of the population in Gueoul. We performed a comprehensive observational study, cross-sectional descriptive on Senegalese aged 35 or over, living in Gueoul for at least 6 months. Lipid profile (total cholesterol, triglycerides, HDL-cholesterol, LDL-cholesterol) was systematically after 12hours of fasting. Dyslipidemia was found in 61.3 % of cases with 50 % pure hypercholesterolemia (n=705). Only 20 subjects (2.3 %) knew they had dyslipidemia. The detection rate was 59.8 % (n=844). The type most represented was hypoHDLemia (45.6 %) followed by hyperLDLemia (28.8 %). Triglycerides were increased in only 2.8 % of cases. The prevalence of dyslipidemia is very high in our regions. It is often associated with female gender, hypertension, diabetes, and obesity. Its main causes are physical inactivity, change in lifestyle and eating habits. It is often misunderstood and its management is limited in most cases to low-calorie diet. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  19. Use of expert consensus to improve atherogenic dyslipidemia management.

    Science.gov (United States)

    Millán Núñez-Cortés, Jesús; Pedro-Botet, Juan; Brea-Hernando, Ángel; Díaz-Rodríguez, Ángel; González-Santos, Pedro; Hernández-Mijares, Antonio; Mantilla-Morató, Teresa; Pintó-Sala, Xavier; Simó, Rafael

    2014-01-01

    Although atherogenic dyslipidemia is a recognized cardiovascular risk factor, it is often underassessed and thus undertreated and poorly controlled in clinical practice. The objective of this study was to reach a multidisciplinary consensus for the establishment of a set of clinical recommendations on atherogenic dyslipidemia to optimize its prevention, early detection, diagnostic evaluation, therapeutic approach, and follow-up. After a review of the scientific evidence, a scientific committee formulated 87 recommendations related to atherogenic dyslipidemia, which were grouped into 5 subject areas: general concepts (10 items), impact and epidemiology (4 items), cardiovascular risk (32 items), detection and diagnosis (19 items), and treatment (22 items). A 2-round modified Delphi method was conducted to compare the opinions of a panel of 65 specialists in cardiology (23%), endocrinology (24.6%), family medicine (27.7%), and internal medicine (24.6%) on these issues. After the first round, the panel reached consensus on 65 of the 87 items discussed, and agreed on 76 items by the end of the second round. Insufficient consensus was reached on 3 items related to the detection and diagnosis of atherogenic dyslipidemia and 3 items related to the therapeutic goals to be achieved in these patients. The external assessment conducted by experts on atherogenic dyslipidemia showed a high level of professional agreement with the proposed clinical recommendations. These recommendations represent a useful tool for improving the clinical management of patients with atherogenic dyslipidemia. A detailed analysis of the current scientific evidence is required for those statements that eluded consensus. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  20. Frequency of Testing for Dyslipidemia: An Evidence-Based Analysis

    Science.gov (United States)

    2014-01-01

    Background Dyslipidemias include high levels of total cholesterol, low-density lipoprotein (LDL) cholesterol, and triglycerides and low levels of high-density lipoprotein (HDL) cholesterol. Dyslipidemia is a risk factor for cardiovascular disease, which is a major contributor to mortality in Canada. Approximately 23% of the 2009/11 Canadian Health Measures Survey (CHMS) participants had a high level of LDL cholesterol, with prevalence increasing with age, and approximately 15% had a total cholesterol to HDL ratio above the threshold. Objectives To evaluate the frequency of lipid testing in adults not diagnosed with dyslipidemia and in adults on treatment for dyslipidemia. Research Methods A systematic review of the literature set out to identify randomized controlled trials (RCTs), systematic reviews, health technology assessments (HTAs), and observational studies published between January 1, 2000, and November 29, 2012, that evaluated the frequency of testing for dyslipidemia in the 2 populations. Results Two observational studies assessed the frequency of lipid testing, 1 in individuals not on lipid-lowering medications and 1 in treated individuals. Both studies were based on previously collected data intended for a different objective and, therefore, no conclusions could be reached about the frequency of testing at intervals other than the ones used in the original studies. Given this limitation and generalizability issues, the quality of evidence was considered very low. No evidence for the frequency of lipid testing was identified in the 2 HTAs included. Canadian and international guidelines recommend testing for dyslipidemia in individuals at an increased risk for cardiovascular disease. The frequency of testing recommended is based on expert consensus. Conclusions Conclusions on the frequency of lipid testing could not be made based on the 2 observational studies. Current guidelines recommend lipid testing in adults with increased cardiovascular risk, with

  1. The current state of dyslipidemia in Korean children and adolescents and its management in clinical practice

    Directory of Open Access Journals (Sweden)

    Jung Sub Lim

    2013-03-01

    Full Text Available Cardiovascular disease (CVD is a leading cause of death worldwide including Korea. The risk factors of CVD are known as positive family history of early CVD, obesity, hypertension, diabetes, and dyslipidemia. Among those, dyslipidemia is one of modifiable risk factors. Dyslipidemia starts in childhood and progress to adulthood. Furthermore, dyslipidemia cause atherosclerosis and is closely related to other CVD risks. On the rationale that early identification and control of pediatric dyslipidemia will reduce the risk and severity of CVD in adulthood, the National Heart, Lung, and Blood Institute guidelines expanded to universal screening for lipid levels. However, there was no guideline for lipid screening and management in Korean children and adolescents yet. This review deals with the rationale of early identification and control of pediatric dyslipidemia along with the current Korean status of pediatric dyslipidemia. This review also deals with how to screen, diagnosis, and treatment of pediatric dyslipidemia.

  2. A novel Gerstmann-Sträussler-Scheinker disease mutation defines a precursor for amyloidogenic 8 kDa PrP fragments and reveals N-terminal structural changes shared by other GSS alleles

    Science.gov (United States)

    Mercer, Robert C. C.; Fu, Ze-Lin; Mays, Charles E.; Gapeshina, Hristina; Wohlgemuth, Serene L.; Acevedo-Morantes, Claudia Y.; Cashman, Neil R.; Coulthart, Michael B.; Jansen, Gerard H.; Stepanova, Maria

    2018-01-01

    To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication in the hydrophobic region (HR), was inserted into the wild type mouse PrP gene. Transgenic (Tg) mouse lines expressing this mutation (Tg.HRdup) developed spontaneous neurologic syndromes and brain extracts hastened disease in low-expressor Tg.HRdup mice, suggesting de novo formation of prions. While Tg.HRdup mice exhibited spongiform change, PrP aggregates and the anticipated GSS hallmark of a proteinase K (PK)-resistant 8 kDa fragment deriving from the center of PrP, the LGGLGGYV insertion also imparted alterations in PrP's unstructured N-terminus, resulting in a 16 kDa species following thermolysin exposure. This species comprises a plausible precursor to the 8 kDa PK-resistant fragment and its detection in adolescent Tg.HRdup mice suggests that an early start to accumulation could account for early disease of the index case. A 16 kDa thermolysin-resistant signature was also found in GSS patients with P102L, A117V, H187R and F198S alleles and has coordinates similar to GSS stop codon mutations. Our data suggest a novel shared pathway of GSS pathogenesis that is fundamentally distinct from that producing structural alterations in the C-terminus of PrP, as observed in other prion diseases such as Creutzfeldt-Jakob Disease and scrapie. PMID:29338055

  3. Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants.

    Science.gov (United States)

    Tada, Hayato; Kawashiri, Masa-Aki; Yamagishi, Masakazu

    2017-04-01

    Dyslipidemias, especially hyper-low-density lipoprotein cholesterolemia and hypertriglyceridemia, are important causal risk factors for coronary artery disease. Comprehensive genotyping using the 'next-generation sequencing' technique has facilitated the investigation of Mendelian dyslipidemias, in addition to Mendelian randomization studies using common genetic variants associated with plasma lipids and coronary artery disease. The beneficial effects of low-density lipoprotein cholesterol-lowering therapies on coronary artery disease have been verified by many randomized controlled trials over the years, and subsequent genetic studies have supported these findings. More recently, Mendelian randomization studies have preceded randomized controlled trials. When the on-target/off-target effects of rare variants and common variants exhibit the same direction, novel drugs targeting molecules identified by investigations of rare Mendelian lipid disorders could be promising. Such a strategy could aid in the search for drug discovery seeds other than those for dyslipidemias.

  4. Delimiting Allelic Imbalance of TYMS by Allele-Specific Analysis.

    Science.gov (United States)

    Balboa-Beltrán, Emilia; Cruz, Raquel; Carracedo, Angel; Barros, Francisco

    2015-07-01

    Allelic imbalance of thymidylate synthase (TYMS) is attributed to polymorphisms in the 5'- and 3'-untranslated region (UTR). These polymorphisms have been related to the risk of suffering different cancers, for example leukemia, breast or gastric cancer, and response to different drugs, among which are methotrexate glutamates, stavudine, and specifically 5-fluorouracil (5-FU), as TYMS is its direct target. A vast literature has been published in relation to 5-FU, even suggesting the sole use of these polymorphisms to effectively manage 5-FU dosage. Estimates of the extent to which these polymorphisms influence in TYMS expression have in the past been based on functional analysis by luciferase assays and quantification of TYMS mRNA, but both these studies, as the association studies with cancer risk or with toxicity or response to 5-FU, are very contradictory. Regarding functional assays, the artificial genetic environment created in luciferase assay and the problems derived from quantitative polymerase chain reactions (qPCRs), for example the use of a reference gene, may have distorted the results. To avoid these sources of interference, we have analyzed the allelic imbalance of TYMS by allelic-specific analysis in peripheral blood mononuclear cells (PBMCs) from patients.Allelic imbalance in PBMCs, taken from 40 patients with suspected myeloproliferative haematological diseases, was determined by fluorescent fragment analysis (for the 3'-UTR polymorphism), Sanger sequencing and allelic-specific qPCR in multiplex (for the 5'-UTR polymorphisms).For neither the 3'- nor the 5'-UTR polymorphisms did the observed allelic imbalance exceed 1.5 fold. None of the TYMS polymorphisms is statistically associated with allelic imbalance.The results acquired allow us to deny the previously established assertion of an influence of 2 to 4 fold of the rs45445694 and rs2853542 polymorphisms in the expression of TYMS and narrow its allelic imbalance to 1.5 fold, in our population

  5. Homoeopathy in the management of Dyslipidemia: A short review

    Directory of Open Access Journals (Sweden)

    Rupali D Bhalerao

    2015-01-01

    Full Text Available The importance of high serum total cholesterol and high level of low-density lipoprotein cholesterol, as a risk factor for coronary artery diseases is well established. Statin is the first-line of treatment for dyslipidemia and there are known side effects of statin therapy. This study reviews the existing information available in Homoeopathy (research and traditional knowledge for managing dyslipidemia. No rigid inclusion has been kept due to scarcity of evidence-based literature. Preclinical and clinical studies (case records to controlled trials are included. A comprehensive search from major biomedical databases including National Medical Library (PubMed, AYUSH PORTAL, EMBASE, and the Cochrane Library was conducted using the search term “dyslipidemia,” “atherosclerosis,” “arteriosclerosis,” “atheroma” along with “Homoeopathy.” In addition, efforts were made to search authoritative texts of authors, such homoeopathic Materia Medica, repertory, etc. Relevant research was categorized by study type and appraised according to study type and design. Four preclinical, three observational studies, and two case records were identified. From literary search, medicines commonly used in Materia Medica and drugs of Indian origin were noted. There are positive leads in managing patients suffering from dyslipidemia. However, more well-designed studies are warranted to generate effectiveness/efficacy of Homoeopathy.

  6. Effect of levothyroxine therapy on dyslipidemia in hypothyroid patients

    African Journals Online (AJOL)

    Arun Kumar Agnihotri

    hypothyroidism (both subclinical and overt hypothyroidism), its association with ... with dyslipidemia, replacement therapy with levothyroxine resulted in reversal to .... aseptically after 12 hours overnight fasting for lipid ..... Workers in the field also observed that restoration ... between SCH and metabolic syndrome (MetS) and.

  7. Obesity, dyslipidemia and brain age in first-episode psychosis

    Czech Academy of Sciences Publication Activity Database

    Kolenic, M.; Franke, K.; Hlinka, Jaroslav; Matějka, M.; Čapková, J.; Pausova, Z.; Uher, R.; Alda, M.; Španiel, F.; Hájek, T.

    2018-01-01

    Roč. 99, April (2018), s. 151-158 ISSN 0022-3956 Grant - others:GA MZd(CZ) NV16-32791A; GA MŠk(CZ) LO1611 Institutional support: RVO:67985807 Keywords : BrainAGE score * Dyslipidemia * First-episode psychosis * Obesity * Overweight * Schizophrenia Impact factor: 4.183, year: 2016

  8. Dyslipidemia and its therapeutic challenges in renal transplantation.

    Science.gov (United States)

    Riella, L V; Gabardi, S; Chandraker, A

    2012-08-01

    Cardiovascular disease is the leading cause of mortality in kidney transplant recipients. Dyslipidemia is a common finding after renal transplantation and a significant risk factor in the development of coronary heart disease. Although a causal relationship with cardiovascular mortality has not been proven in the transplant population, it is reasonable to extrapolate data from the general population and aggressively treat posttransplant dyslipidemia. Statins are considered the agents of choice, though their use may be complicated by drug misadventures. Pravastatin, fluvastatin and pitavastatin are considered to be the safest statins to use in this population; however, given their low-potency, a high-potency statin, such as atorvastatin, may be necessary in patients with significant dyslipidemia. In this article, we discuss the etiology of and treatment strategies for dyslipidemia in renal transplant recipients based on a literature review of potential therapeutic adverse effects and benefits in this population. We will also evaluate the reasons for and consequences of the latest Food and Drug Administration (FDA) warnings regarding the use of simvastatin. © Copyright 2012 The American Society of Transplantation and the American Society of Transplant Surgeons.

  9. Dyslipidemia among HIV‑infected patients Translation from research ...

    African Journals Online (AJOL)

    Page | 142. Vol. 13, July-September, 2014. Annals of African Medicine. Sir,. The recent report on dyslipidemia among. HIV‑infected patients is very interesting.[1]. Muhammad et al., concluded that “HIV‑infected patients on HAART demonstrated higher prevalence of high TC while HAART naïve subject showed higher.

  10. Assessment of dyslipidemia in renal disease patients | Digban ...

    African Journals Online (AJOL)

    Dyslipidemia is elevation of plasma cholesterol, triglycerides (TGs), or both, or a low high density lipoprotein level that contributes to the development of atherosclerosis. Lipid pattern of renal disease patients were determined. One hundred volunteers were recruited for this study which comprised of sixty renal disease ...

  11. Dyslipidemias in type 2 diabetes mellitus patients in Nnewi South ...

    African Journals Online (AJOL)

    Background: Dyslipidemia has been noted to play an integral role in the pathogenesis and progression of micro and macrovascular complications in diabetes mellitus patients. The complications exemplified by renal vascular and cardiovascular disease cause the most morbidity and mortality in this group of patients.

  12. High density lipoproteins, dyslipidemia, and coronary heart disease

    National Research Council Canada - National Science Library

    2010-01-01

    ... with premature coronary heart disease (CHD). These familial disorders include lipoprotein(a) excess, dyslipidemia (high triglycerides and low HDL), combined hyperlipidemia (high cholesterol and high triglycerides often with low HDL), hypoalphalipoproteinemia (low HDL), and hypercholesterolemia. We discuss the management of these disorders. W...

  13. [Consensus document on the treatment of dyslipidemia in diabetes].

    Science.gov (United States)

    Hormigo-Pozo, A; Mancera-Romero, J; Perez-Unanua, M P; Alonso-Fernandez, M; Lopez-Simarro, F; Mediavilla-Bravo, J J

    2015-03-01

    People with type 2 diabetes mellitus have a 2 to 4 times higher risk of developing cardiovascular diseases when compared to general population of similar age and sex. This risk remains after adjustment of other traditional cardiovascular risk factors. The dyslipidemia associated with type 2 diabetes mellitus is present in up to 60% of people with diabetes and contributes greatly to increased cardiovascular, morbidity and mortality risk in these patients. Diabetic dyslipidemia is a disorder of lipid metabolism characterized by an excess of triglycerides, a decrease in HDL-cholesterol and altered lipoprotein composition, consisting mainly in an excess of small, dense LDL particles. Multiple clinical trials have demonstrated the benefits of drug treatment of dyslipidemia (mainly statins) to prevent cardiovascular events and mortality in people with diabetes, both in primary and secondary prevention. This consensus document, developed by general practitioners, members of the Diabetes Group of the Spanish Society of Primary Care Physicians (SEMERGEN), aims to assist in the management of patients with diabetes and dyslipidemia in accordance with the most recent recommendations. Copyright © 2014 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  14. Prevalence of Dyslipidemia in Children with Congenital Heart Disease

    International Nuclear Information System (INIS)

    Fuenmayor, Gabriela; Redondo, Ana Carolina Costa; Shiraishi, Karen Saori; Souza, Rogerio; Elias, Patrícia Figueiredo; Jatene, Ieda Biscegli

    2013-01-01

    Dyslipidemia is one of the main risk factors associated with cardiovascular diseases. Few data on the impacts of congenital heart diseases are available with regard to the prevalence of dyslipidemia in children. Our study evaluated the lipid profile in children with congenital heart disease at a referral center. From January 2011 to July 2012, 52 pediatric patients had their lipid, metabolic and clinical profiles traced. The mean age was 10.4 ± 2.8 years and male/female rate of 1.38:1. Our population had 53.8% patients with high levels of total cholesterol and 13.4% (CI 95 %, from 6.6 to 25.2%) of them also presenting LDL levels ≥ 130 mg/dL, which characterizes dyslipidemia. The group of dyslipidemic patients presented only two obese individuals. Our data show that the presence of congenital heart disease does not lead to higher risk associated with the prevalence of dyslipidemia. Therefore, the screening of this specific population should follow the regular pediatric guidelines, which are also independent of the nutritional status of the children tested

  15. Prevalence of Dyslipidemia in Children with Congenital Heart Disease

    Energy Technology Data Exchange (ETDEWEB)

    Fuenmayor, Gabriela; Redondo, Ana Carolina Costa; Shiraishi, Karen Saori [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil); Souza, Rogerio [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil); Instituto do Coração, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Elias, Patrícia Figueiredo; Jatene, Ieda Biscegli, E-mail: ijatene@hcor.com.br [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil)

    2013-09-15

    Dyslipidemia is one of the main risk factors associated with cardiovascular diseases. Few data on the impacts of congenital heart diseases are available with regard to the prevalence of dyslipidemia in children. Our study evaluated the lipid profile in children with congenital heart disease at a referral center. From January 2011 to July 2012, 52 pediatric patients had their lipid, metabolic and clinical profiles traced. The mean age was 10.4 ± 2.8 years and male/female rate of 1.38:1. Our population had 53.8% patients with high levels of total cholesterol and 13.4% (CI 95 %, from 6.6 to 25.2%) of them also presenting LDL levels ≥ 130 mg/dL, which characterizes dyslipidemia. The group of dyslipidemic patients presented only two obese individuals. Our data show that the presence of congenital heart disease does not lead to higher risk associated with the prevalence of dyslipidemia. Therefore, the screening of this specific population should follow the regular pediatric guidelines, which are also independent of the nutritional status of the children tested.

  16. Quantitative trait loci at the 11q23.3 chromosomal region related to dyslipidemia in the population of Andhra Pradesh, India.

    Science.gov (United States)

    Pranavchand, Rayabarapu; Reddy, Battini Mohan

    2017-06-13

    Given the characteristic atherogenic dyslipidemia of south Indian population and crucial role of APOA1, APOC3, APOA4 and APOA5 genes clustered in 11q23.3 chromosomal region in regulating lipoprotein metabolism and cholesterol homeostasis, a large number of recently identified variants are to be explored for their role in regulating the serum lipid parameters among south Indians. Using fluidigm SNP genotyping platform, a prioritized set of 96 SNPs of the 11q23.3 chromosomal region were genotyped on 516 individuals from Hyderabad, India, and its vicinity and aged >45 years. The linear regression analysis of the individual lipid traits viz., TC, LDLC, HDLC, VLDL and TG with each of the 78 SNPs that confirm to HWE and with minor allele frequency > 1%, suggests 23 of those to be significantly associated (p ≤ 0.05) with at least one of these quantitative traits. Most importantly, the variant rs632153 is involved in elevating TC, LDLC, TG and VLDLs and probably playing a crucial role in the manifestation of dyslipidemia. Additionally, another three SNPs rs633389, rs2187126 and rs1263163 are found risk conferring to dyslipidemia by elevating LDLC and TC levels in the present population. Further, the ROC (receiver operating curve) analysis for the risk scores and dyslipidemia status yielded a significant area under curve (AUC) = 0.675, suggesting high discriminative power of the risk variants towards the condition. The interaction analysis suggests rs10488699-rs2187126 pair of the BUD13 gene to confer significant risk (Interaction odds ratio = 14.38, P = 7.17 × 10 5 ) towards dyslipidemia by elevating the TC levels (β = 37.13, p = 6.614 × 10 5 ). On the other hand, the interaction between variants of APOA1 gene and BUD13 and/or ZPR1 regulatory genes at this region are associated with elevated TG and VLDL. The variants at 11q23.3 chromosomal region seem to determine the quantitative lipid traits and in turn dyslipidemia in the population of Hyderabad

  17. Selenium Level and Dyslipidemia in Rural Elderly Chinese.

    Directory of Open Access Journals (Sweden)

    Liqin Su

    Full Text Available Higher selenium level has been hypothesized to have the potential to reduce the risk of cardiovascular diseases including dyslipidemia. However, results from previous studies are inconsistent. This study aims to determine the association between selenium level and dyslipidemia in elderly Chinese with relatively low selenium status.A cross-sectional study of 1859 participants aged 65 or older from four rural counties in China was conducted. Serum total cholesterol (TC, triglycerides (TG, high density lipoprotein-cholesterol (HDLC and low-density lipoprotein-cholesterol (LDLC, nail selenium concentration and APOE genotype were measured in all subjects. The four types of dyslipidemia were defined as >5.17 mmol/L for High-TC, >1.69 mmol/L for High-TG, >3.36 mmol/L for High-LDLC, and <1.04 mmol/L for Low-HDLC according to Chinese Guidelines on Prevention and Treatment of Dyslipidemia in Adults. Logistic models adjusting for age, gender, APOE genotype, body mass index, alcohol consumption, smoking, physical activity, medication use for cardiovascular diseases were used to examine the relationship between selenium levels and the risk of dyslipidemia.Mean nail selenium concentration was 0.465 μg/gin this sample. Rates for High-TC, High-LDLC, High-TG, Low-HDLC were 18.13%, 13.23%, 12.21% and 32.76% respectively. Results from logistic models indicated that higher selenium levels were significantly associated with higher risk of High-TC, High-LDLC and lower risk of Low-HDLC adjusting for covariates (p < 0.0001. Compared with the lowest selenium quartile group, participants in selenium quartile groups 2, 3 and 4 had significantly higher rates of High-TC, High-LDLC, High-TG, and lower rate of Low-HDLC adjusting for covariates. No significant association was observed between selenium level and the risk of High-TG. APOEε4 carriers had higher rates of High-TC and High-LDLC. There was no interaction between selenium level and APOE with the rates of

  18. Selenium Level and Dyslipidemia in Rural Elderly Chinese

    Science.gov (United States)

    Su, Liqin; Gao, Sujuan; Unverzagt, Frederick W.; Cheng, Yibin; Hake, Ann M.; Xin, Pengju; Chen, Chen; Liu, Jingyi; Ma, Feng; Bian, Jianchao; Li, Ping; Jin, Yinlong

    2015-01-01

    Objective Higher selenium level has been hypothesized to have the potential to reduce the risk of cardiovascular diseases including dyslipidemia. However, results from previous studies are inconsistent. This study aims to determine the association between selenium level and dyslipidemia in elderly Chinese with relatively low selenium status. Methods A cross-sectional study of 1859 participants aged 65 or older from four rural counties in China was conducted. Serum total cholesterol (TC), triglycerides (TG), high density lipoprotein-cholesterol (HDLC) and low-density lipoprotein-cholesterol (LDLC), nail selenium concentration and APOE genotype were measured in all subjects. The four types of dyslipidemia were defined as >5.17mmol/L for High-TC, >1.69 mmol/L for High-TG, >3.36 mmol/L for High-LDLC, and selenium levels and the risk of dyslipidemia. Results Mean nail selenium concentration was 0.465μg/gin this sample. Rates for High-TC, High-LDLC, High-TG, Low-HDLC were 18.13%, 13.23%, 12.21% and 32.76% respectively. Results from logistic models indicated that higher selenium levels were significantly associated with higher risk of High-TC, High-LDLC and lower risk of Low-HDLC adjusting for covariates (p selenium quartile group, participants in selenium quartile groups 2, 3 and 4 had significantly higher rates of High-TC, High-LDLC, High-TG, and lower rate of Low-HDLC adjusting for covariates. No significant association was observed between selenium level and the risk of High-TG. APOEε4 carriers had higher rates of High-TC and High-LDLC. There was no interaction between selenium level and APOE with the rates of dyslipidemia. Conclusions Our results suggest long-term selenium exposure level may be associated with the risk of dyslipidemia in elderly population. Future studies are needed to examine the underlying mechanism of the association. PMID:26380972

  19. Individual and Joint Associations of Methylenetetrahydrofolate Reductase C677T Genotype and Plasma Homocysteine With Dyslipidemia in a Chinese Population With Hypertension.

    Science.gov (United States)

    Liu, Yanhong; Li, Kang; Venners, Scott A; Hsu, Yi-Hsiang; Jiang, Shanqun; Weinstock, Justin; Wang, Binyan; Tang, Genfu; Xu, Xiping

    2017-04-01

    We aimed to examine the cross-sectional associations of plasma total homocysteine (tHcy) concentrations and methylenetetrahydrofolate reductase ( MTHFR) C677T genotype with dyslipidemia. A total of 231 patients with mild-to-moderate essential hypertension were enrolled from the Huoqiu and Yuexi communities in Anhui Province, China. Plasma tHcy levels were measured by high-performance liquid chromatography. Genotyping was performed by TaqMan allelic discrimination technique. Compared with MTHFR 677 CC + CT genotype carriers, TT genotype carriers had higher odds of hypercholesterolemia (adjusted odds ratio [OR] [95% confidence interval (CI)]: 2.7 [1.4-5.2]; P = .004) and higher odds of abnormal low-density lipoprotein cholesterol (adjusted OR [95% CI]: 2.3 [1.1-4.8]; P = .030). The individuals with the TT genotype had higher concentrations of log(tHcy) than those with the 677 CC + CT genotype (adjusted β [standard error]: .2 [0.03]; P dyslipidemia in Chinese patients with essential hypertension. Further studies are needed to confirm the role of tHcy and the MTHFR C677T mutation in the development of dyslipidemia in a larger sample.

  20. Dyslipidemias and Cardiovascular Prevention: Tailoring Treatment According to Lipid Phenotype.

    Science.gov (United States)

    Sanin, Veronika; Pfetsch, Vanessa; Koenig, Wolfgang

    2017-07-01

    This study aimed to present the current information on the genetic background of dyslipidemias and provide insights into the complex pathophysiological role of several plasma lipids/lipoproteins in the pathogenesis of atherosclerotic cardiovascular disease. Furthermore, we aim to summarize established therapies and describe the scientific rationale for the development of novel therapeutic strategies. Evidence from genetic studies suggests that besides lowering low-density lipoprotein cholesterol, pharmacological reduction of triglyceride-rich lipoproteins, or lipoprotein(a) will reduce risk for coronary heart disease. Dyslipidemia, in particular hypercholesterolemia, is a common clinical condition and represents an important determinant of atherosclerotic vascular disease. Treatment decisions are currently guided by the causative lipid phenotype and the presence of other risk factors suggesting a very high cardiovascular risk. Therefore, the identification of lipid disorders and the optimal combination of therapeutic strategies provide an outstanding opportunity for reducing the onset and burden of cardiovascular disease.

  1. SSR allelic variation in almond (Prunus dulcis Mill.).

    Science.gov (United States)

    Xie, Hua; Sui, Yi; Chang, Feng-Qi; Xu, Yong; Ma, Rong-Cai

    2006-01-01

    Sixteen SSR markers including eight EST-SSR and eight genomic SSRs were used for genetic diversity analysis of 23 Chinese and 15 international almond cultivars. EST- and genomic SSR markers previously reported in species of Prunus, mainly peach, proved to be useful for almond genetic analysis. DNA sequences of 117 alleles of six of the 16 SSR loci were analysed to reveal sequence variation among the 38 almond accessions. For the four SSR loci with AG/CT repeats, no insertions or deletions were observed in the flanking regions of the 98 alleles sequenced. Allelic size variation of these loci resulted exclusively from differences in the structures of repeat motifs, which involved interruptions or occurrences of new motif repeats in addition to varying number of AG/CT repeats. Some alleles had a high number of uninterrupted repeat motifs, indicating that SSR mutational patterns differ among alleles at a given SSR locus within the almond species. Allelic homoplasy was observed in the SSR loci because of base substitutions, interruptions or compound repeat motifs. Substitutions in the repeat regions were found at two SSR loci, suggesting that point mutations operate on SSRs and hinder the further SSR expansion by introducing repeat interruptions to stabilize SSR loci. Furthermore, it was shown that some potential point mutations in the flanking regions are linked with new SSR repeat motif variation in almond and peach.

  2. Origin of allelic diversity in antirrhinum S locus RNases.

    Science.gov (United States)

    Xue, Y; Carpenter, R; Dickinson, H G; Coen, E S

    1996-01-01

    In many plant species, self-incompatibility (SI) is genetically controlled by a single multiallelic S locus. Previous analysis of S alleles in the Solanaceae, in which S locus ribonucleases (S RNases) are responsible for stylar expression of SI, has demonstrated that allelic diversity predated speciation within this family. To understand how allelic diversity has evolved, we investigated the molecular basis of gametophytic SI in Antirrhinum, a member of the Scrophulariaceae, which is closely related to the Solanaceae. We have characterized three Antirrhinum cDNAs encoding polypeptides homologous to S RNases and shown that they are encoded by genes at the S locus. RNA in situ hybridization revealed that the Antirrhinum S RNase are primarily expressed in the stylar transmitting tissue. This expression is consistent with their proposed role in arresting the growth of self-pollen tubes. S alleles from the Scrophulariaceae form a separate group from those of the Solanaceae, indicating that new S alleles have been generated since these families separated (approximately 40 million years). We propose that the recruitment of an ancestral RNase gene into SI occurred during an early stage of angiosperm evolution and that, since that time, new alleles subsequently have arisen at a low rate. PMID:8672882

  3. Incident diabetes, hypertension and dyslipidemia in a Manitoba First Nation

    Directory of Open Access Journals (Sweden)

    Natalie D. Riediger

    2015-08-01

    Full Text Available Background: Diabetes and diabetes complications are substantially higher among Canadian First Nations populations compared with the general Canadian population. However, incidence data using detailed individual assessments from a population-based cohort have not been undertaken. Objective: We sought to describe incident diabetes, hypertension and dyslipidemia in a population-based cohort from a Manitoba Ojibway First Nation community. Design: Study data were from 2 diabetes screening studies in Sandy Bay First Nation in Manitoba, Canada, collected in 2002/2003 and 2011/2012. The cohort comprised of respondents to both screening studies (n=171. Health and demographic data were collected using a questionnaire. Fasting blood samples, blood pressure and anthropometric data were also collected objectively. Incident diabetes, hypertension and dyslipidemia were determined. Generalized linear models with Poisson distribution were used to estimate risk of incident diabetes and cardiometabolic conditions according to age and sex. Results: There were 35 (95% CI: 26, 45 new cases of diabetes among 128 participants without diabetes at baseline (27 or 3.3% per year. While participants who were 50 years and older at baseline had a significantly higher risk of incident diabetes at follow-up compared with participants aged 18–29 at baseline (p=0.012, more than half of the incident cases of diabetes occurred among participants aged less than 40 at baseline. There were 28 (95% CI: 20, 37 new cases of dyslipidemia at follow-up among 112 without dyslipidemia at baseline (25%. There were 36 (95% CI: 31, 42 new cases of hypertension among 104 participants without hypertension at baseline (34.6%. Women had half the risk of developing hypertension compared with men (p=0.039. Conclusions: Diabetes incidence is very high, and the number of new cases among those younger than 40 is a concern. Additional public health and primary care efforts are needed to address the

  4. Cadmium Exposure is Associated with the Prevalence of Dyslipidemia

    OpenAIRE

    Zhou Zhou; Yong-hui Lu; Hui-feng Pi; Peng Gao; Min Li; Lei Zhang; Li-ping Pei; Xiang Mei; Lin Liu; Qi Zhao; Qi-Zhong Qin; Yu Chen; Yue-ming Jiang; Zhao-hui Zhang; Zheng-ping Yu

    2016-01-01

    Background: Cadmium is a widespread environmental and occupational pollutant that accumulates in human body with a biological half-life exceeding 10 years. Cadmium exposure has been demonstrated to increase rates of cardiovascular diseases. Whether occupational cadmium exposure is associated with the increase in the prevalence of dyslipidemia and hence contributes to the risk of cardiovascular diseases is still equivocal. To test the hypothesis that exposure to cadmium is related to the preva...

  5. Low Urinary Iodine Concentrations Associated with Dyslipidemia in US Adults.

    Science.gov (United States)

    Lee, Kyung Won; Shin, Dayeon; Song, Won O

    2016-03-17

    Iodine is an essential component of the thyroid hormone which plays crucial roles in healthy thyroid function and lipid metabolism. However, the association between iodine status and dyslipidemia has not been well established at a population level. We aimed to test the hypothesis that the odds of dyslipidemia including elevated total cholesterol, triglycerides, low-density lipoprotein (LDL) cholesterol and apolipoprotein B, and lowered high-density lipoprotein (HDL) cholesterol and HDL/LDL ratio are associated with urinary iodine concentration (UIC) in a population perspective. Data of 2495 US adults (≥20 years) in the National Health and Nutrition Examination Survey 2007-2012 were used in this study. Two subgroups (i.e., UIC below vs. above the 10th percentile) were compared of dyslipidemia as defined based on NCEP ATP III guidelines. The differences between the groups were tested statistically by chi-square test, simple linear regressions, and multiple logistic regressions. Serum lipid concentrations differed significantly between two iodine status groups when sociodemographic and lifestyle covariates were controlled (all, p 200 mg/dL) (adjusted odds ratio (AOR) = 1.51, 95% confidence interval (CI): 1.03-2.23) and elevated LDL cholesterol (>130 mg/dL) (AOR = 1.58, 95% CI: 1.11-2.23) and lowered HDL/LDL ratio (dyslipidemia. Findings of the present cross-sectional study with spot urine samples highlight the significant association between UIC and serum lipids at population level, but do not substantiate a causal relationship. Further investigations are warranted to elucidate the causal relationship among iodine intakes, iodine status, and serum lipid profiles.

  6. Gender differences of dyslipidemia in type 2 diabetics

    International Nuclear Information System (INIS)

    Gilani, S.Y.H.; Bibi, S.; Ahmed, N.

    2010-01-01

    Type II diabetic patients are at an increased risk of coronary artery disease and cerebrovascular disease because of deranged lipid metabolism. Female diabetic patients are predominantly at risk. The objective of this cross-sectional study was to determine effects of gender on dyslipidemia of type II diabetic patients. Methods: This study was carried out at Out-Patients Department, Medical A Unit, Ayub Teaching Hospital Abbottabad from May 27, to November 27, 2009. All type II diabetic patients who were above 40 and gave consent were included in the study. Data was collected through a structured proforma. Pattern of dyslipidemia in type II diabetic patients were estimated by computing all the four types of dyslipidemia like hypertriglyceridemia, low HDL, increased serum total cholesterol and increased serum LDL. Results: There were 150 patients with mean age 65.67+- 11.29 years. There were 80 (53.33%) male and 70 (46.7%) female patients. Mean BMI was 28.45 +- 3.30 Kg/m/sup 2/. Mean serum cholesterol level was 3.9 +- 1.31 mmol/L, triglyceride level was 2.98 +- 1.14 mmol/L, LDL level was 3.28 +- 0.85 mmol/L and HDL was 0.95 +- 0.02 mmol/L. Women were more frequent to have low level HDL as compare to men (p 0.05). Conclusion: Female diabetic patients have increased frequency of low level of serum HDL as compared to males. (author)

  7. Prevalence and pattern of dyslipidemia in Nepalese individuals with type 2 diabetes.

    Science.gov (United States)

    Pokharel, Daya Ram; Khadka, Dipendra; Sigdel, Manoj; Yadav, Naval Kishor; Acharya, Shreedhar; Kafle, Ramchandra; Sapkota, Ravindra Mohan; Sigdel, Tara

    2017-04-04

    Atherogenic dyslipidemia is an important modifiable risk factor for cardiovascular disease among patients of type 2 diabetes mellitus. Timely detection and characterization of this condition help clinicians estimate future risk of cardiovascular disease and take appropriate preventive measures. The aim of this study was to determine the prevalence, pattern and predictors of dyslipidemia in a cohort of Nepalese patients with type 2 diabetes. We found mixed dyslipidemia as the most prevalent (88.1%) and isolated dyslipidemia (10.1%) as the least prevalent forms of dyslipidemia in our patients. The most prevalent form of single dyslipidemia was high LDL-C (73.8%) and combined dyslipidemia was high TG, high LDL-C and low HDL-C (44.7%). Prevalence of all single and mixed dyslipidemia was higher in patients with poor glycemic control and hypertension. The glycemic status of patients correlated with their fasting serum lipid profile. Dyslipidemia was associated mainly with male gender, poor glycemic control and hypertension. Atherogenic dyslipidemia is associated mainly with male gender, poor glycemic control and hypertension. It is highly prevalent in Nepalese patients with type 2 diabetes. Urgent lifestyle modification, sustained glycemic control and aggressive lipid lowering treatment plans are necessary to minimize the future risk of cardiovascular disease in this population.

  8. Serum IL-10, IL-17 and IL-23 levels as "bioumoral bridges" between dyslipidemia and atopy.

    Science.gov (United States)

    Manti, S; Leonardi, S; Panasiti, I; Arrigo, T; Salpietro, C; Cuppari, C

    2017-11-01

    Although several studies suggest a possible link between dyslipidemia and atopy, literature findings are still unclear. The aim of the study was to investigate the relationship between dyslipidemia and atopy in a pediatric population affected by dyslipidemia or dyslipidemia/atopic predisposition. Children with dyslipidemia, dyslipidemia and atopy as well as healthy children were recruited. Serum total IgE, IL-10, IL-17, and IL-23 levels as well as fasting lipid values (total cholesterol, LDL, HDL and triglycerides) were performed on all enrolled children. The present study evaluated 23 patients affected by dyslipidemia, 26 patients affected by atopy and dyslipidemia and, 22healthy children. Serum total IgE levels significantly related also with serum cholesterol levels: positively with total cholesterol (pdyslipidemia than patients with dyslipidemia (pdyslipidemia than patients with dyslipidemia (pdyslipidemia and atopic predisposition share the same immune pathways as well as they offer new insights in the complex crosstalk between hyperlipidemia and atopy. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Plasminogen alleles influence susceptibility to invasive aspergillosis.

    Directory of Open Access Journals (Sweden)

    Aimee K Zaas

    2008-06-01

    Full Text Available Invasive aspergillosis (IA is a common and life-threatening infection in immunocompromised individuals. A number of environmental and epidemiologic risk factors for developing IA have been identified. However, genetic factors that affect risk for developing IA have not been clearly identified. We report that host genetic differences influence outcome following establishment of pulmonary aspergillosis in an exogenously immune suppressed mouse model. Computational haplotype-based genetic analysis indicated that genetic variation within the biologically plausible positional candidate gene plasminogen (Plg; Gene ID 18855 correlated with murine outcome. There was a single nonsynonymous coding change (Gly110Ser where the minor allele was found in all of the susceptible strains, but not in the resistant strains. A nonsynonymous single nucleotide polymorphism (Asp472Asn was also identified in the human homolog (PLG; Gene ID 5340. An association study within a cohort of 236 allogeneic hematopoietic stem cell transplant (HSCT recipients revealed that alleles at this SNP significantly affected the risk of developing IA after HSCT. Furthermore, we demonstrated that plasminogen directly binds to Aspergillus fumigatus. We propose that genetic variation within the plasminogen pathway influences the pathogenesis of this invasive fungal infection.

  10. Management Status of Cardiovascular Disease Risk Factors for Dyslipidemia among Korean Adults.

    Science.gov (United States)

    Lee, Jongseok; Son, Heejeong; Ryu, Ohk Hyun

    2017-03-01

    Dyslipidemia, hypertension, and diabetes are well-established risk factors for cardiovascular disease (CVD). This study investigated the prevalence and management status of these factors for dyslipidemia among Korean adults aged 30 years old and older. The prevalence and management status of dyslipidemia, hypertension, and diabetes were analyzed among 12229 subjects (≥30 years) participating in the Korea National Health and Nutrition Survey 2010-2012. Dyslipidemia was defined according to treatment criteria rather than diagnostic criteria in Korea. Therefore, hyper-low-density lipoprotein (LDL) cholesterolemia was defined if LDL cholesterol levels exceeded the appropriate risk-based threshold established by the National Cholesterol Education Program Adult Treatment Panel III. The age-standardized prevalence was highest for dyslipidemia (39.6%), followed by hypertension (32.8%) and diabetes (9.8%). The lowest patient awareness was found for dyslipidemia (27.9%). The treatment rate was 66.5% for diabetes and 57.3% for hypertension, but only 15.7% for dyslipidemia. The control rate among those undergoing treatment was highest for hypertension (64.2%), followed by dyslipidemia (59.2%) and diabetes (22.1%). The higher the risk levels of CVD were, the lower the control rate of dyslipidemia. While the prevalence of dyslipidemia was higher than hypertension and diabetes, awareness and treatment rates thereof were lower. Higher CVD-risk categories showed lower control rates of dyslipidemia. In order to improve awareness and control rates of dyslipidemia, diagnostic criteria should be reconciled with treatment targets based on cardiovascular risk in Korean populations.

  11. The prevalence, awareness, treatment and control of dyslipidemia among adults in China.

    Science.gov (United States)

    Pan, Ling; Yang, Zhenhua; Wu, Yue; Yin, Rui-Xing; Liao, Yunhua; Wang, Jinwei; Gao, Bixia; Zhang, Luxia

    2016-05-01

    To analyze the prevalence, awareness, treatment, control and epidemiological characteristics of dyslipidemia in Chinese adults. In this cross-sectional study, we adopted a multi-stage, stratified sampling method to obtain representative samples of the general population aged >18 years from different urban and rural regions in China. All subjects completed a lifestyle and medical history questionnaire and were examined for risk factors. Dyslipidemia was defined according to criteria of the 2007 Chinese Guidelines on Prevention and Treatment of Dyslipidemia in Adults. Continuous variables were compared using variance analysis. Multivariate logistic regression analysis was performed to explore the risk factors of dyslipidemia. The prevalence of dyslipidemia was 34.0% overall, and 35.1%, and 26.3% in urban and rural areas, respectively. The prevalence of dyslipidemia was significantly higher in men than women (41.9% vs 32.5%; P dyslipidemia. The prevalence of dyslipidemia among Chinese adults was high but awareness, treatment, and control of dyslipidemia were low. Urban high income earners and rural medium income earners show higher prevalence. Low income earners in urban and rural population have the worst awareness treatment, and control rate. There is an increased need for closely monitoring and controlling high risk factors in the populations including postmenopausal women, unhealthy lifestyle peoples and patients with chronic non-communicable diseases. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  12. Assessment of the myostatin Q204X allele using an allelic discrimination assay

    OpenAIRE

    Sifuentes-Rincón,Ana M.; Puentes-Montiel,Herlinda E.; Moreno-Medina,Víctor R.; Rosa-Reyna,Xóchitl F. de la

    2006-01-01

    An allelic discrimination assay was designed and used to determine the genotypic and allelic frequencies of the myostatin (MSTN) gene Q204X allele from two Mexican Full-French herds. The assay is a simple high throughput genotyping method that could be applied to investigate the effect of the Q204X allele on the Charolais breed.

  13. Nitric oxide synthase gene G298 allele

    International Nuclear Information System (INIS)

    Nagib El-Kilany, Galal E.; Nayel, Ehab; Hazzaa, Sahar

    2004-01-01

    Background: Nitric oxide (NO) has an important effect on blood pressure, arterial wall, and the basal release of endothelial NO in hypertension (HPN) may be reduced. Until now, there is no solid data revealing the potential role of the polymorphism of the nitric oxide synthase gene (NOS) in patients with HPN and microvascular angina. Aim: The aim of the present study is to investigate the gene of endothelial nitric oxide synthase (eNOS), as the polymorphism of this gene may be a putative candidate for HPN and initiate the process of atherosclerosis. Methods: Sixty participants were recruited for this study; 50 were hypertensive patients complaining of chest pain [30 of them have electrocardiogram (EKG) changes of ischemia], 20 had isolated HPN, and 10 healthy volunteers served as control. All patients underwent stress myocardial perfusion imaging (MPI) and coronary angiography. Genotyping of eNOS for all patients and controls was performed. The linkages between HPN, microvascular angina and eNOS gene polymorphism were investigated. Results: MPI and coronary angiography revealed that 15 patients had chest pain with true ischemia and reversible myocardial perfusion defects (multiple and mild) but normal epicardial coronary arteries (microvascular angina), while 15 patients had significant coronary artery disease (CAD), and 20 hypertensive patients showed normal perfusion scan and coronary angiography. The prevalence of the NOS G 298 allele was higher in the hypertensive group with microvascular angina (documented by MPI) than it was among the control participants (P<.005). The eNOS allele was significantly higher in the hypertensive group than in the control participants, but there was no significant difference in homozygote mutants among hypertensive participants, x-syndrome and patients with CAD. Conclusion: eNOS gene polymorphism is proved to be an important etiology in microvascular angina (x-syndrome) among hypertensive patients. In addition, the eNOS mutant

  14. Implication of HLA-DMA Alleles in Corsican IDDM

    Directory of Open Access Journals (Sweden)

    P. Cucchi-Mouillot

    1998-01-01

    Full Text Available The HLA-DM molecule catalyses the CLIP/antigen peptide exchange in the classical class II peptide-binding groove. As such, DM is an antigen presentation regulator and may be linked to autoimmune diseases. Using PCR derived methods, a relationship was revealed between DM gene polymorphism and IDDM, in a Corsican population. The DMA*0101 allele was observed to confer a significant predisposition to this autoimmune disease while the DMA*0102 allele protected significantly. Experiments examining polymorphism of the HLA-DRB1 gene established that these relationships are not a consequence of linkage disequilibrium with HLA-DRB1 alleles implicated in this pathology. The study of the DMA gene could therefore be an additional tool for early IDDM diagnosis in the Corsican population.

  15. Caloric Sweetener Consumption and Dyslipidemia Among US Adults

    Science.gov (United States)

    Welsh, Jean A.; Sharma, Andrea; Abramson, Jerome L.; Vaccarino, Viola; Gillespie, Cathleen; Vos, Miriam B.

    2011-01-01

    Context Dietary carbohydrates have been associated with dyslipidemia, a lipid profile known to increase cardiovascular disease risk. Added sugars (caloric sweeteners used as ingredients in processed or prepared foods) are an increasing and potentially modifiable component in the US diet. No known studies have examined the association between the consumption of added sugars and lipid measures. Objective To assess the association between consumption of added sugars and blood lipid levels in US adults. Design, Setting, and Participants Cross-sectional study among US adults (n=6113) from the National Health and Nutrition Examination Survey (NHANES) 1999–2006. Respondents were grouped by intake of added sugars using limits specified in dietary recommendations (estimate adjusted mean lipid levels. Logistic regression was used to determine adjusted odds ratios of dyslipidemia. Interactions between added sugars and sex were evaluated. Main Outcome Measures Adjusted mean high-density lipoprotein cholesterol (HDL-C), geometric mean triglycerides, and mean low-density lipoprotein cholesterol (LDL-C) levels and adjusted odds ratios of dyslipidemia, including low HDL-C levels (3.8). Results were weighted to be representative of the US population. Results A mean of 15.8% of consumed calories was from added sugars. Among participants consuming less than 5%, 5% to less than 17.5%, 17.5% to less than 25%, and 25% or greater of total energy as added sugars, adjusted mean HDL-C levels were, respectively, 58.7, 57.5, 53.7, 51.0, and 47.7 mg/dL (Padded sugars) the odds of low HDL-C levels were 50% to more than 300% greater compared with the reference group (added sugars). Conclusion In this study, there was a statistically significant correlation between dietary added sugars and blood lipid levels among US adults. PMID:20407058

  16. Gender differences of dyslipidemia in type 2 diabetics

    Energy Technology Data Exchange (ETDEWEB)

    Gilani, S Y.H. [Ayub Medical College, Abbottabad (Pakistan). Dept. of Pharmacology; Bibi, S [Ayub Medical College, Abbottabad (Pakistan). Dept. of Physiology; Ahmed, N [Frontier Medical College, Abbottabad (Pakistan). Dept. of Medicine

    2010-07-15

    Type II diabetic patients are at an increased risk of coronary artery disease and cerebrovascular disease because of deranged lipid metabolism. Female diabetic patients are predominantly at risk. The objective of this cross-sectional study was to determine effects of gender on dyslipidemia of type II diabetic patients. Methods: This study was carried out at Out-Patients Department, Medical A Unit, Ayub Teaching Hospital Abbottabad from May 27, to November 27, 2009. All type II diabetic patients who were above 40 and gave consent were included in the study. Data was collected through a structured proforma. Pattern of dyslipidemia in type II diabetic patients were estimated by computing all the four types of dyslipidemia like hypertriglyceridemia, low HDL, increased serum total cholesterol and increased serum LDL. Results: There were 150 patients with mean age 65.67+- 11.29 years. There were 80 (53.33%) male and 70 (46.7%) female patients. Mean BMI was 28.45 +- 3.30 Kg/m/sup 2/. Mean serum cholesterol level was 3.9 +- 1.31 mmol/L, triglyceride level was 2.98 +- 1.14 mmol/L, LDL level was 3.28 +- 0.85 mmol/L and HDL was 0.95 +- 0.02 mmol/L. Women were more frequent to have low level HDL as compare to men (p<0.05), while no significant difference was found regarding serum cholesterol, serum triglyceride and serum LDL (p>0.05). Conclusion: Female diabetic patients have increased frequency of low level of serum HDL as compared to males. (author)

  17. Dyslipidemia in patients with chronic kidney disease: etiology and management

    Directory of Open Access Journals (Sweden)

    Mikolasevic I

    2017-02-01

    Full Text Available Ivana Mikolasevic,1,2 Marta Žutelija,3 Vojko Mavrinac,1 Lidija Orlic 2 1Department of Gastroenterology, 2Department of Nephrology, Dialysis and Kidney Transplantation, UHC Rijeka, 3School of Medicine, Rijeka, Croatia Abstract: Patients with chronic kidney disease (CKD, including those with end-stage renal disease, treated with dialysis, or renal transplant recipients have an increased risk for cardiovascular disease (CVD morbidity and mortality. Dyslipidemia, often present in this patient population, is an important risk factor for CVD development. Specific quantitative and qualitative changes are seen at different stages of renal impairment and are associated with the degree of glomerular filtration rate declining. Patients with non-dialysis-dependent CKD have low high-density lipoproteins (HDL, normal or low total cholesterol (TC and low-density lipoprotein (LDL cholesterol, increased triglycerides as well as increased apolipoprotein B (apoB, lipoprotein(a (Lp (a, intermediate- and very-low-density lipoprotein (IDL, VLDL; “remnant particles”, and small dense LDL particles. In patients with nephrotic syndrome lipid profile is more atherogenic with increased TC, LDL, and triglycerides. Lipid profile in hemodialysis (HD patients is usually similar to that in non-dialysis-dependent CKD patients. Patients on peritoneal dialysis (PD have more altered dyslipidemia compared to HD patients, which is more atherogenic in nature. These differences may be attributed to PD per se but may also be associated with the selection of dialytic modality. In renal transplant recipients, TC, LDL, VLDL, and triglycerides are elevated, whereas HDL is significantly reduced. Many factors can influence post-transplant dyslipidemia including immunosuppressive agents. This patient population is obviously at high risk; hence, prompt diagnosis and management are required to improve their clinical outcomes. Various studies have shown statins to be effective in the

  18. Dyslipidemia and its association with meibomian gland dysfunction.

    Science.gov (United States)

    Braich, Puneet S; Howard, Mary K; Singh, Jorawer S

    2016-08-01

    Abnormal serum lipid levels significantly increase the risk for cardiovascular disease. Furthermore, abnormal compositions of cholesterol in glandular secretions have been hypothesized as an etiology for meibomian gland dysfunction, yet this relationship has not been well studied in clinical settings. The primary purpose of this study was to determine if there is an association between dyslipidemia and meibomian gland dysfunction (MGD). The secondary purpose was to identify the factors, if any, that play a role in this association. A case-control study was performed between October 2013 and February 2015 which recruited 109 patients with MGD and 115 control patients without MGD. All participants were of Indian descent and had no history of dyslipidemia. Basic demographic information was collected as well as fasting levels of serum glucose, creatinine, triglycerides, total cholesterol, low-density lipoprotein (LDL), and high-density lipoprotein (HDL). To calculate differences between groups, Z test or Student t test were used. A stepwise logistic regression model was used to calculate the estimates of odds ratios (ORs), where MGD was the dependent variable, making the independent variables consist of sex, age, body mass index (BMI), triglycerides ≥150 mg/dL, total cholesterol ≥200 mg/dL, LDL ≥130 mg/dL, or HDL ≤40 mg/dL, serum glucose, and serum creatinine. Dyslipidemia, defined by either a fasting total cholesterol level of ≥ 200 mg/dL, triglycerides ≥150 mg/dL, LDL ≥130 mg/dL, or HDL ≤40 mg/dL, was detected in 70 cases (64 %) and 21 controls (18 %), P 65 years (OR 2.1; 95 % CI 1.2-3.2, P = 0.04), serum triglyceride concentration ≥150 mg/dL (OR 3.2; 95 % CI 1.9-4.4; P = 0.03), total cholesterol ≥200 mg/dL (OR 14.3; 95 % CI 8.2-20.7, P dyslipidemia, an important risk factor for cardiovascular illness.

  19. Association between Eight Functional Polymorphisms and Haplotypes in the Cholesterol Ester Transfer Protein (CETP) Gene and Dyslipidemia in National Minority Adults in the Far West Region of China.

    Science.gov (United States)

    Guo, Shuxia; Hu, Yunhua; Ding, Yusong; Liu, Jiaming; Zhang, Mei; Ma, Rulin; Guo, Heng; Wang, Kui; He, Jia; Yan, Yizhong; Rui, Dongsheng; Sun, Feng; Mu, Lati; Niu, Qiang; Zhang, Jingyu; Li, Shugang

    2015-12-16

    We have investigated the relationship between the polymorphisms and haplotypes in the CETP gene, and dyslipidemia among the Xinjiang Kazak and Uyghur populations in China. A total of 712 patients with dyslipidemia and 764 control subjects of CETP gene polymorphism at rs12149545, rs3764261, rs1800775, rs711752, rs708272, rs289714, rs5882, and rs1801706 loci were studied by the Snapshot method, linkage disequilibrium analysis and haplotype construction. The results are as follows: (1) the minor allele of eight loci of frequencies in the two groups were different from other results of similar studies in other countries; (2) In the linear regression analysis, the HDL-C levels of rs708272 TT, rs1800775 AA, rs289714 CC and rs711752 AA genotypes were significantly higher than those of other genotypes, however, the rs3764261 GG and rs12149545 GG genotypes were significantly lower than those of other genotypes in the two ethnic groups. The HDL-C levels of the rs12149545 GG genotype were lower than those of other genotypes; (3) in the control group, the rs708272 CT genotype of TG levels were lower than in the CC genotype, the T genotype of LDL-C levels were lower than in the CC genotype, and the HDL-C levels were higher than in the CT genotype; the rs1800775 AC genotype of TG levels were higher than in the AA genotype, the rs711752 AG genotype of TG levels were lower than in the GG genotype, the AA genotype LDL-C levels were lower than in the GG genotype, and the HDL-C levels were higher than in the AG genotype; the rs1800775 AC genotype of TG levels were higher than in the AA genotype. In the dyslipidemia group, the rs708272 TT genotype of TC and LDL-C levels were higher than in the CT genotype and the rs3764261 TT genotype of TC levels were higher than in the GG genotype. The rs711752 AA genotype of TC and LDL-C levels were higher than in the AG genotype, and the rs12149545 AA genotype of TC and LDL-C levels were higher than in the GG genotype; (4) perfect Linkage

  20. Association between Eight Functional Polymorphisms and Haplotypes in the Cholesterol Ester Transfer Protein (CETP) Gene and Dyslipidemia in National Minority Adults in the Far West Region of China

    Science.gov (United States)

    Guo, Shuxia; Hu, Yunhua; Ding, Yusong; Liu, Jiaming; Zhang, Mei; Ma, Rulin; Guo, Heng; Wang, Kui; He, Jia; Yan, Yizhong; Rui, Dongsheng; Sun, Feng; Mu, Lati; Niu, Qiang; Zhang, Jingyu; Li, Shugang

    2015-01-01

    We have investigated the relationship between the polymorphisms and haplotypes in the CETP gene, and dyslipidemia among the Xinjiang Kazak and Uyghur populations in China. A total of 712 patients with dyslipidemia and 764 control subjects of CETP gene polymorphism at rs12149545, rs3764261, rs1800775, rs711752, rs708272, rs289714, rs5882, and rs1801706 loci were studied by the Snapshot method, linkage disequilibrium analysis and haplotype construction. The results are as follows: (1) the minor allele of eight loci of frequencies in the two groups were different from other results of similar studies in other countries; (2) In the linear regression analysis, the HDL-C levels of rs708272 TT, rs1800775 AA, rs289714 CC and rs711752 AA genotypes were significantly higher than those of other genotypes, however, the rs3764261 GG and rs12149545 GG genotypes were significantly lower than those of other genotypes in the two ethnic groups. The HDL-C levels of the rs12149545 GG genotype were lower than those of other genotypes; (3) in the control group, the rs708272 CT genotype of TG levels were lower than in the CC genotype, the T genotype of LDL-C levels were lower than in the CC genotype, and the HDL-C levels were higher than in the CT genotype; the rs1800775 AC genotype of TG levels were higher than in the AA genotype, the rs711752 AG genotype of TG levels were lower than in the GG genotype, the AA genotype LDL-C levels were lower than in the GG genotype, and the HDL-C levels were higher than in the AG genotype; the rs1800775 AC genotype of TG levels were higher than in the AA genotype. In the dyslipidemia group, the rs708272 TT genotype of TC and LDL-C levels were higher than in the CT genotype and the rs3764261 TT genotype of TC levels were higher than in the GG genotype. The rs711752 AA genotype of TC and LDL-C levels were higher than in the AG genotype, and the rs12149545 AA genotype of TC and LDL-C levels were higher than in the GG genotype; (4) perfect Linkage

  1. Factors influencing dyslipidemia in statin-treated patients in Lebanon and Jordan: results of the Dyslipidemia International Study.

    Science.gov (United States)

    Azar, Sami T; Hantash, Hadi Abu; Jambart, Selim; El-Zaheri, Mohamed M; Rachoin, Rachoin; Chalfoun, Amal; Lahoud, Layla; Okkeh, Osama; Bramlage, Peter; Brudi, Philippe; Ambegaonkar, Baishali M

    2014-01-01

    Cardiovascular disease is the leading cause of death and disability worldwide. Therefore, as part of the Dyslipidemia International Study (DYSIS), we have analyzed the prevalence of lipid abnormalities and risk factors for dyslipidemia in statin-treated patients in Lebanon and Jordan. This cross-sectional, multicenter study enrolled 617 patients at 13 hospitals in Lebanon and Jordan. Patients were at least 45 years old and had been treated with statins for at least 3 months. Multivariate logistic regression analysis was used to determine patient characteristics contributing to dyslipidemia during statin therapy. Our findings indicated that 55.9% of statin-treated patients (mean age 60.3 years, 47% female) in Lebanon and Jordan did not achieve goal levels for low-density lipoprotein cholesterol which were dependent on Systematic Coronary Risk Evaluation (SCORE) risk, and 70% of patients (76% men and 63.3% of women) were at very high cardiovascular risk. Low-density lipoprotein cholesterol goals were not achieved in 67.2% of those with very high cardiovascular risk. The most commonly prescribed statin was atorvastatin (44.6%), followed by simvastatin (27.7%), rosuvastatin (21.2%), fluvastatin (3.3%), pravastatin (3%), and lovastatin (0.2%). Approximately half of the population was treated with a statin dose potency of 4, equaling 40 mg of simvastatin. In Lebanon and Jordan, the strongest independent associations with low-density lipoprotein cholesterol not at goal were current smoking (odds ratio [OR] 1.96; 95% confidence [CI] 1.25-3.08), diabetes mellitus (OR 2.53; 95% CI 1.70-3.77), and ischemic heart disease (OR 2.26; 95% CI 1.45-3.53), while alcohol consumption was associated with reduced risk (OR 0.12; 95% CI 0.03-0.57). We observed that many patients in Lebanon and Jordan experienced persistent dyslipidemia during statin treatment, supporting the notion that novel lipid-lowering strategies need to be developed. Also, social programs aimed at combating the

  2. Treatment of dyslipidemia in patients with type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Vijayaraghavan Krishnaswami

    2010-12-01

    Full Text Available Abstract Type 2 diabetes is associated with significant cardiovascular morbidity and mortality. Although low-density lipoprotein cholesterol levels may be normal in patients with type 2 diabetes, insulin resistance drives a number of changes in lipid metabolism and lipoprotein composition that render low-density lipoprotein cholesterol and other lipoproteins more pathogenic than species found in patients without type 2 diabetes. Dyslipidemia, which affects almost 50% of patients with type 2 diabetes, is a cardiovascular risk factor characterized by elevated triglyceride levels, low high-density lipoprotein cholesterol levels, and a preponderance of small, dense, low-density lipoprotein particles. Early, aggressive pharmacological management is advocated to reduce low-density lipoprotein cholesterol levels, regardless of baseline levels. A number of lipid-lowering agents, including statins, fibrates, niacin, and bile acid sequestrants, are available to target normalization of the entire lipid profile. Despite use of combination and high-dose lipid-lowering agents, many patients with type 2 diabetes do not achieve lipid targets. This review outlines the characteristics and prevalence of dyslipidemia in patients with type 2 diabetes and discusses strategies that may reduce the risk of cardiovascular disease in this population.

  3. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

    Science.gov (United States)

    Cross, Deanna S; Ivacic, Lynn C; Stefanski, Elisha L; McCarty, Catherine A

    2010-06-17

    There is a lack of knowledge regarding the frequency of disease associated polymorphisms in populations and population attributable risk for many populations remains unknown. Factors that could affect the association of the allele with disease, either positively or negatively, such as race, ethnicity, and gender, may not be possible to determine without population based allele frequencies.Here we used a panel of 51 polymorphisms previously associated with at least one disease and determined the allele frequencies within the entire Personalized Medicine Research Project population based cohort. We compared these allele frequencies to those in dbSNP and other data sources stratified by race. Differences in allele frequencies between self reported race, region of origin, and sex were determined. There were 19544 individuals who self reported a single racial category, 19027 or (97.4%) self reported white Caucasian, and 11205 (57.3%) individuals were female. Of the 11,208 (57%) individuals with an identifiable region of origin 8337 or (74.4%) were German.41 polymorphisms were significantly different between self reported race at the 0.05 level. Stratification of our Caucasian population by self reported region of origin revealed 19 polymorphisms that were significantly different (p = 0.05) between individuals of different origins. Further stratification of the population by gender revealed few significant differences in allele frequencies between the genders. This represents one of the largest population based allele frequency studies to date. Stratification by self reported race and region of origin revealed wide differences in allele frequencies not only by race but also by region of origin within a single racial group. We report allele frequencies for our Asian/Hmong and American Indian populations; these two minority groups are not typically selected for population allele frequency detection. Population wide allele frequencies are important for the design and

  4. Dyslipidemias in type 2 diabetes mellitus patients in Nnewi South-East Nigeria.

    Science.gov (United States)

    Jisieike-Onuigbo, N N; Unuigbe, E I; Oguejiofor, C O

    2011-01-01

    Dyslipidemia has been noted to play an integral role in the pathogenesis and progression of micro and macrovascular complications in diabetes mellitus patients. The complications exemplified by renal vascular and cardiovascular disease cause the most morbidity and mortality in this group of patients. This study is aimed at understanding the pattern of dyslipidemia among type 2 diabetic patients. A total of 108 consenting adult type 2 diabetic patients seen in the medical unit of the Nnamdi Azikiwe University Teaching Hospital Nnewi were evaluated in this crosssectional study. Their fasting lipid profile, fasting blood glucose, weight, height and blood pressure were evaluated. The prevalence of dyslipidemia (at least one abnormal lipid profile) was 90.7%. The 24.1% had single dyslipidemia while 66.6% had combined dyslipidemia. Reduced HDL constituted the highest single abnormality (62%) followed by hypertriglyceridemia (56.5%), hypercholesterolemia (53.7%) and high LDL in (44.4%). The duration of DM was not significantly associated with dyslipidemia (P > 0.05). Dyslipidemia is highly prevalent among type 2 diabetic patients in Nigeria with the majority of the patients having combined dyslipidemia. We recommend that aggressive treatment of lipidemia and hyperglycemia can be instituted to reduce the risk of macro and microvascular complications.

  5. PCSK9 and resistin at the crossroads of the atherogenic dyslipidemia

    NARCIS (Netherlands)

    Rashid, Shirya; Kastelein, John J. P.

    2013-01-01

    The atherogenic dyslipidemia is a pathophysiological lipid triad, composed of high triglycerides and low-density lipoprotein and low high-density lipoprotein. The dyslipidemia is highly prevalent in individuals who are obese, insulin resistant and those with Type 2 diabetes and is the major

  6. Dyslipidemia prevalence, treatment, control, and awareness in the Canadian Health Measures Survey.

    Science.gov (United States)

    Joffres, Michel; Shields, Margot; Tremblay, Mark S; Connor Gorber, Sarah

    2013-04-24

    The most recent Canadian population-level data on lipid levels are from 1992. This study presents current estimates of Canadians with dyslipidemia, the proportion aware of their condition, and the proportion being treated and below target values. The Canadian Health Measures Survey (2007-2009) assessed the prevalence, awareness and treatment of dyslipidemia. Dyslipidemia was defined as TC/HDL-C ratio ≥5; measured LDL-C ≥3.5 mmol/L; or taking lipid-modifying medications. The 2009 guidelines for the diagnosis and treatment of dyslipidemia were used to define low, moderate or high cardiovascular disease (CVD) risk and treatment initiation and targets. Forty-five percent of Canadians aged 18-79 years have dyslipidemia. Fifty-seven percent of respondents were not aware of their condition. Lipid-modifying therapy was initiated in individuals where treatment would be recommended in 49%, 20% and 54% of those at high, moderate, and low risk levels, respectively. The majority (81%) of those taking medication had their lipid levels under desirable levels, however, only 24% of those with dyslipidemia reported medication use. Overall, only 19% of those with dyslipidemia had their lipids under recommended levels. Only 41% of those taking lipid-modifying medication reached a recommended target of LDL-C dyslipidemia, who are not being treated to recommended levels. These data need to be integrated into CVD reduction recommendations and represent an important baseline for assessing progress.

  7. The prevalence of dyslipidemia and associated factors in children and adolescents with type 1 diabetes.

    Science.gov (United States)

    Bulut, Tuba; Demirel, Fatma; Metin, Ayşe

    2017-02-01

    Dyslipidemia increases the frequency and severity of micro and macrovascular complications of type 1 diabetes (T1D). The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents. The study included 202 children and adolescents with T1D. Demographic data and laboratory findings were obtained from patients files. Dyslipidemia prevalence was found to be 26.2%. Hypercholesterolemia (15.8%) and hyperglyceridemia (12.9%) were most common findings. Age, body mass index (BMI), hemoglobin A1c (A1C) and poor metabolic control were significantly higher in cases with dyslipidemia. Smoking rate was 14.1% in the pubertal group. Poor metabolic control and dyslipidemia was found higher among smokers (pdyslipidemia in patients with T1D. Smoking-related risks should be a part of patient education in the pubertal period.

  8. Dyslipidemia: Obese or Not Obese-That Is Not the Question.

    Science.gov (United States)

    Ipsen, David H; Tveden-Nyborg, Pernille; Lykkesfeldt, Jens

    2016-12-01

    Purpose of review: It is becoming increasingly clear that some obese individuals do not develop dyslipidemia and instead remain healthy, while some normal weight individuals become dyslipidemic and unhealthy. The present review examines the similarities and differences between healthy and unhealthy individuals with and without obesity and discusses putative underlying mechanisms of dyslipidemia. The presence of dyslipidemia and compromised metabolic health in both lean and obese individuals suggests that the obese phenotype per se does not represent a main independent risk factor for the development of dyslipidemia and that dyslipidemia, rather than obesity, may be the driver of metabolic diseases. Notably, adipose tissue dysfunction and ectopic lipid deposition, in particular in the liver, seems a common trait of unhealthy individuals.

  9. Dyslipidemia and its risk factors among urban middle-aged Iranians: A population-based study.

    Science.gov (United States)

    Ebrahimi, Hossein; Emamian, Mohammad Hassan; Hashemi, Hassan; Fotouhi, Akbar

    2016-01-01

    Dyslipidemia is a known risk factor for cardiovascular disease and is a leading cause of mortality in developed and developing countries. This study was aimed to determine the prevalence of dyslipidemia and its risk factors in an urban group of Iranian adult population. In this study, based on the criteria set by the National Cholesterol Education Program, the prevalence of dyslipidemia was evaluated in a population of 4737 people aged 45-69 years who participated in the second phase of an ophthalmology cohort study in Shahroud. Dyslipidemia prevalence was determined by age, sex, and risk factors of the disease; the findings were tested by using simple and multiple logistic regression. The prevalence of dyslipidemia was 66.5% (CI 95%: 64.4-68.6) in males, 61.3% (CI 95%: 59.5-63.2) in females, and 63.4% (CI 95%: 62.0-64.9%) in both sexes. The prevalence of hypertriglyceridemia, hypercholesterolemia, low HDL-C, and high LDL-C, respectively, was 28.8%, 13.4%, 42.3%, and 13.4%, respectively. In multivariate logistic regression model, increase of age (for females), abdominal obesity, overweight and obesity, hypertension, and diabetes were associated with an increased odd of dyslipidemia. The prevalence of dyslipidemia in middle-aged urban population in Iran is high, and with increasing age there is an increased risk of dyslipidemia. Hence, considering the growing trend of aging in Iran, there is need for taking special measures to deal with dyslipidemia as a health priority. Furthermore, the need for planning in order to reduce the risk of dyslipidemia and prevent its complications is greater than ever. Copyright © 2016 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  10. Comparative population analysis of metallothionein promoter alleles suggests stress-induced microevolution in the field.

    NARCIS (Netherlands)

    Janssens, T.K.S.; Del Rio Lopez, R.; Mariën, A.G.H.; Timmermans, M.J.T.N.; Montagne-Wajer, K; van Straalen, N.M.; Roelofs, D.

    2008-01-01

    We investigate a model system for microevolution of transcriptional regulation: metallothionein expression in springtails. A previous survey of the metallothionein promoter in Orchesella cincta (Collembola) revealed nine alleles with differential basal activities and responses to cadmium and

  11. Comparative population analysis of metallothionein promoter alleles suggests stress-induced microevolution in the field

    NARCIS (Netherlands)

    Janssens, Thierry K S; Lopéz, Ricardo del Rio; Mariën, Janine; Timmermans, Martijn J T N; Montagne-Wajer, K; van Straalen, Nico M; Roelofs, Dick

    2008-01-01

    We investigate a model system for microevolution of transcriptional regulation: metallothionein expression in springtails. A previous survey of the metallothionein promoter in Orchesella cincta (Collembola) revealed nine alleles with differential basal activities and responses to cadmium and

  12. Dyslipidemia: management using optimal lipid-lowering therapy.

    Science.gov (United States)

    Ito, Matthew K

    2012-10-01

    To evaluate current approaches and explore emerging research related to dyslipidemia management. MEDLINE (2004-April 2012) was searched for randomized controlled trials using the terms dyslipidemia and lipid-lowering therapy or statin (>1000 hits). Separate searches (MEDLINE, Google) identified meta-analyses (2010-2011), disease prevalence statistics, and current consensus guidelines (2004-July 2011). Additional references were identified from the publications reviewed. English-language articles on large multicenter trials were evaluated. National Cholesterol Education Program Adult Treatment Panel III guidelines for the reduction of cardiovascular risk recommend the attainment of specific low-density lipoprotein cholesterol (LDL-C) and non-high-density lipoprotein cholesterol (non-HDL-C) target values, based on an individual's 10-year risk of coronary heart disease or global risk. For most patients unable to achieve recommended lipid level goals with therapeutic lifestyle changes, statins are the first option for treatment. Results of large, well-controlled clinical trials have demonstrated that statins are effective in primary and secondary prevention of cardiovascular disease in diverse populations, including patients with diabetes and the elderly, and that intensive statin therapy provides more effective lipid goal attainment and significantly greater risk reduction in patients with coronary artery disease. Statin therapy is generally well tolerated but may increase the risk of myopathy. Statin use has been associated with increases in hepatic transaminases and an increased risk of diabetes, although the absolute risk of diabetes is low compared with the risk reduction benefit. Combination therapy including a statin may be appropriate for certain populations, but the risk reduction benefits of combination therapy remain unclear. Ezetimibe is an important treatment option for patients with hypercholesterolemia who do not tolerate intensive statin therapy

  13. [Clinical practice guideline. Diagnosis and treatment of dyslipidemia.

    Science.gov (United States)

    Canalizo-Miranda, Elvia; Favela-Pérez, Eddie Alberto; Salas-Anaya, Javier Alejandro; Gómez-Díaz, Rita; Jara-Espino, Ricardo; Del Pilar Torres-Arreola, Laura; Viniegra-Osorio, Arturo

    2013-01-01

    Non-communicable diseases are a public health problem in México. Coronary heart disease and diabetes mellitus are the first and second cause of death in the country, followed by thrombotic cerebrovascular events. Cardiovascular diseases are the leading cause of death; one primary risk factor is hypercholesterolemia. The detection and treatment of lipid abnormalities is the key to the prevention and management of chronic non-communicable diseases. Two nationally representative surveys have shown that lipid abnormalities are the most common risk factors in Mexican adults. The purpose of this guide is to provide a basis for identifying dyslipidemia in a timely manner, and to systematize the criteria for diagnosis and treatment in the first and second level of care.

  14. Prevalence of dyslipidemia in adults with cystic fibrosis.

    Science.gov (United States)

    Rhodes, Bronwen; Nash, Edward F; Tullis, Elizabeth; Pencharz, Paul B; Brotherwood, Michelle; Dupuis, Annie; Stephenson, Anne

    2010-01-01

    A high fat calorie diet is advocated for patients with cystic fibrosis (CF) however the lipid profiles of individuals with CF, including those with CF-related diabetes (CFRD), are not well studied. We conducted a retrospective review of adult CF patients attending St Michael's Hospital between January 2005 and December 2007. 334 patients (77% pancreatic insufficient (PI)) were included in the study. Mean HDL cholesterol was significantly lower in males (p201mg/dL(5.2mmol/L) (p195mg/dL(2.2mmol/L). Diabetes was diagnosed in 23% of subjects. Lipid profiles were similar between diabetics and non-diabetics. Total cholesterol and triglycerides both increased with increasing age and increasing BMI (pdiabetes and those without. Fasting lipids should be monitored in CF patients, particularly those with PS, older age, and high BMI. As survival in CF increases, the prevalence of dyslipidemia may increase resulting in clinically important complications.

  15. High Prevalence of Dyslipidemia and Insulin Resistance in HIV-infected Prepubertal African Children on Antiretroviral Therapy.

    Science.gov (United States)

    Innes, Steve; Abdullah, Kameelah L; Haubrich, Richard; Cotton, Mark F; Browne, Sara H

    2016-01-01

    Data describing the true extent of antiretroviral therapy (ART)-induced dyslipidemia and insulin resistance in perinatally infected children on ART in Africa are sparse. Fasting total cholesterol, low-density lipoprotein (LDL), high-density lipoprotein (HDL), triglycerides, insulin and glucose were performed on the first 100 of 190 pediatric ART clinic attendees. Diet assessment was performed by a trained dietician. Lipoatrophy was formally graded by consensus between 2 expert HIV pediatricians. Durations of previous ART exposures, clinical stage, pre-ART viral load, nadir and current CD4 were recorded. Dual-energy X-ray absorptiometry was performed on a subset of 42 patients selected semi-randomly. Prevalences of insulin resistance, abnormal total cholesterol, LDL, HDL and triglyceride were 10%, 13%, 12%, 13% and 9%, respectively. Overall, 40% had at least 1 lipid abnormality or insulin resistance. Adjusted mean LDL cholesterol increased by 0.24 mmol/L for each additional year of cumulative lopinavir/r exposure (P = 0.03) after correcting for age, gender, body mass index, previous stavudine exposure, age at ART initiation, dietary fat and refined carbohydrate, whereas adjusted mean LDL cholesterol was 0.9 mmol/L higher in children exposed to efavirenz within the previous 6 months (P = 0.02). Adjusting for age, gender and ethnicity, dual-energy X-ray absorptiometry revealed that greater trunk fat and lower peripheral subcutaneous fat were associated with elevated triglycerides but not with total cholesterol, LDL, HDL or homeostatic model assessment. Similarly, the presence of visually obvious lipoatrophy was associated with elevated triglycerides but not with total cholesterol, LDL, HDL, homeostatic model assessment or lactate. Prevalences of insulin resistance and dyslipidemia were high. Cumulative lopinavir is an independent risk factor for dyslipidemia, with efavirenz exposure having only transitory effect.

  16. [Phenotypic effects of puroindoline gene alleles of bread wheat].

    Science.gov (United States)

    Chebotar, S V; Kurakina, K O; Khokhlov, O M; Chebotar, H O; Syvolap, Iu M

    2012-01-01

    85 winter bread wheat varieties and lines that have been developed mostly in Ukraine were analyzed with NIR for parameters of hardness and protein content. The hardness data were compared with the data of puroindoline gene alleles analysis done earlier and the published data. Significant variation of parameters of hardness was revealed when there was low polymorphism of puroindoline genes indicating the presence of additional genes that influence the hardness parameters.

  17. Development of job standards for clinical nutrition therapy for dyslipidemia patients.

    Science.gov (United States)

    Kang, Min-Jae; Seo, Jung-Sook; Kim, Eun-Mi; Park, Mi-Sun; Woo, Mi-Hye; Ju, Dal-Lae; Wie, Gyung-Ah; Lee, Song-Mi; Cha, Jin-A; Sohn, Cheong-Min

    2015-04-01

    Dyslipidemia has significantly contributed to the increase of death and morbidity rates related to cardiovascular diseases. Clinical nutrition service provided by dietitians has been reported to have a positive effect on relief of medical symptoms or reducing the further medical costs. However, there is a lack of researches to identify key competencies and job standard for clinical dietitians to care patients with dyslipidemia. Therefore, the purpose of this study was to analyze the job components of clinical dietitian and develop the standard for professional practice to provide effective nutrition management for dyslipidemia patients. The current status of clinical nutrition therapy for dyslipidemia patients in hospitals with 300 or more beds was studied. After duty tasks and task elements of nutrition care process for dyslipidemia clinical dietitians were developed by developing a curriculum (DACUM) analysis method. The developed job standards were pretested in order to evaluate job performance, difficulty, and job standards. As a result, the job standard included four jobs, 18 tasks, and 53 task elements, and specific job description includes 73 basic services and 26 recommended services. When clinical dietitians managing dyslipidemia patients performed their practice according to this job standard for 30 patients the job performance rate was 68.3%. Therefore, the job standards of clinical dietitians for clinical nutrition service for dyslipidemia patients proposed in this study can be effectively used by hospitals.

  18. Prevalence of Dyslipidemias in Three Regions in Venezuela: The VEMSOLS Study Results

    Science.gov (United States)

    González-Rivas, Juan P.; Nieto-Martínez, Ramfis; Brajkovich, Imperia; Ugel, Eunice; Rísquez, Alejandro

    2018-01-01

    Background The prevalence of dyslipidemia in multiple regions of Venezuela is unknown. The Venezuelan Metabolic Syndrome, Obesity and Lifestyle Study (VEMSOLS) was undertaken to evaluate cardiometabolic risk factors in Venezuela. Objective To determine the prevalence of dyslipidemia in five populations from three regions of Venezuela. Methods During the years 2006 to 2010, 1320 subjects aged 20 years or older were selected by multistage stratified random sampling from all households in five municipalities from 3 regions of Venezuela: Lara State (Western region), Merida State (Andean region), and Capital District (Capital region). Anthropometric measurements and biochemical analysis were obtained from each participant. Dyslipidemia was defined according to the NCEP/ATPIII definitions. Results Mean age was 44.8 ± 0.39 years and 68.5% were females. The prevalence of lipids abnormalities related to the metabolic syndrome (low HDL-c [58.6%; 95% CI 54.9 - 62.1] and elevated triglycerides [39.7%; 36.1 - 43.2]) were the most prevalent lipid alterations, followed by atherogenic dyslipidemia (25.9%; 22.7 - 29.1), elevated LDL-c (23.3%; 20.2 - 26.4), hypercholesterolemia (22.2%; 19.2 - 25.2), and mix dyslipidemia (8.9%; 6.8 - 11.0). Dyslipidemia was more prevalent with increasing body mass index. Conclusion Dyslipidemias are prevalent cardiometabolic risk factors in Venezuela. Among these, a higher prevalence of low HDL is a condition also consistently reported in Latin America. PMID:29538522

  19. The Impact of Cardiorespiratory Fitness Levels on the Risk of Developing Atherogenic Dyslipidemia.

    Science.gov (United States)

    Breneman, Charity B; Polinski, Kristen; Sarzynski, Mark A; Lavie, Carl J; Kokkinos, Peter F; Ahmed, Ali; Sui, Xuemei

    2016-10-01

    Low cardiorespiratory fitness has been established as a risk factor for cardiovascular-related morbidity. However, research about the impact of fitness on lipid abnormalities, including atherogenic dyslipidemia, has produced mixed results. The purpose of this investigation is to examine the influence of baseline fitness and changes in fitness on the development of atherogenic dyslipidemia. All participants completed at least 3 comprehensive medical examinations performed by a physician that included a maximal treadmill test between 1976 and 2006 at the Cooper Clinic in Dallas, Texas. Atherogenic dyslipidemia was defined as a triad of lipid abnormalities: low high-density-lipoprotein cholesterol ([HDL-C] dyslipidemia during an average of 8.85 years of follow-up. High baseline fitness was protective against the development of atherogenic dyslipidemia in comparison with those with low fitness (odds ratio [OR] 0.57; 95% confidence interval [CI], 0.37-0.89); however, this relationship became nonsignificant after controlling for baseline HDL-C, LDL-C, and TG levels. Participants who maintained fitness over time had lower odds of developing atherogenic dyslipidemia than those with a reduction in fitness (OR 0.56; 95% CI, 0.34-0.91) after adjusting for baseline confounders and changes in known risk factors. High fitness at baseline and maintenance of fitness over time are protective against the development of atherogenic dyslipidemia. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. Increased serum soluble corin in dyslipidemia: A cross-sectional study.

    Science.gov (United States)

    Wang, Xiaolei; Chen, Shi; Zhang, Qiu; Liu, Yan; Liu, Lu; Li, Huiling; Peng, Hao

    2015-10-23

    Natriuretic peptides have been associated with dyslipidemia. As a physiological activator of natriuretic peptides, corin might also be associated with dyslipidemia. However, this association has not yet been studied in Chinese populations. Serum soluble corin and blood lipid profiles were determined for 2496 participants aged above 30y. A logistic regression model was applied to evaluate the association between serum soluble corin and dyslipidemia. Serum soluble corin was significantly increased in participants with dyslipidemia in both men (Pdyslipidemia positively increased with increasing levels of serum soluble corin in men (P for trend=0.011) and women (P for trend=0.043). Participants with a high corin level were more likely to have dyslipidemia than those with a low corin level in men (OR, 95% CI: 1.45, 1.07-1.97) and women (OR, 95% CI: 1.33, 1.04-1.70). Serum soluble corin was significantly and positively associated with dyslipidemia. Our findings suggested that serum soluble corin may be a marker or risk factor for dyslipidemia. Copyright © 2015 Elsevier B.V. All rights reserved.

  1. [Public sector participation in the supply of dyslipidemia medication in a population-based study].

    Science.gov (United States)

    Petris, Airton José; Souza, Regina Kazue Tanno de; Bortoletto, Maira Sayuri Sakay

    2016-12-01

    The use of medications for the treatment of dyslipidemia is relevant in the control of cardiovascular disease. This article aims to analyze the prevalence, the use and the participation of the public sector in the supply of medication for adults aged 40 years and above using pharmacotherapy for dyslipidemia control living in a city in the southern region of Brazil. A cross-sectional, population-based study was conducted. Household interviews were staged with 1180 individuals aged over 40 living in Cambé, State of Paraná, of which 967 took laboratory examinations. The prevalence of dyslipidemia was 69.2%, of which 16.1% were taking medication. Among individuals undergoing treatment for dyslipidemia, 22.2% had adequate test results. Lipid-lowering medication used were simvastatin (81.5%) and bezafibrate (6.5%), mainly obtained by direct payment to private pharmacies and drug stores (52.2%) and NHS services (33.6%). A high prevalence of dyslipidemias was observed in population terms, together with a low level of dyslipidemia control and low participation of the public sector regarding the supply of medication compared to acquisition through direct payment for medication in private pharmacies. These results suggest a limited range of public policy for control of dyslipidemia.

  2. Obstructive sleep apnea combined dyslipidemia render additive effect on increasing atherosclerotic cardiovascular diseases prevalence.

    Science.gov (United States)

    Cao, Zhiyong; Zhang, Ping; He, Zhiqing; Yang, Jing; Liang, Chun; Ren, Yusheng; Wu, Zonggui

    2016-05-26

    Current study was designed to investigate the effects of obstructive sleep apnea (OSA) combined dyslipidemia on the prevalence of atherosclerotic cardiovascular diseases (ASCVD). This was a cross-sectional study and subjects with documented dyslipidemia and without previous diagnosis of OSA were enrolled. Polysomnography was applied to evaluate apnea-hypopnea index (AHI). Based on AHI value, subjects were classified into four groups: without OSA, mild, moderate and severe OSA groups. Clinical characteristics and laboratory examination data were recorded. Relationship between AHI event and lipid profiles was analyzed, and logistic regression analysis was used to evaluate the effects of OSA combined dyslipidemia on ASCVD prevalence. Totally 248 subjects with dyslipidemia were enrolled. Compared to the other 3 groups, subjects with severe OSA were older, male predominant and had higher smoking rate. In addition, subjects with severe OSA had higher body mass index, waist-hip ratio, blood pressure, and higher rates of overweight and obesity. Serum levels of fasting plasma glucose, glycated hemoglobin, LDL-C and CRP were all significantly higher. ASCVD prevalence was considerably higher in subjects with severe OSA. AHI event in the severe OSA group was up to 35.4 ± 5.1 events per hour which was significantly higher than the other groups (P dyslipidemia plus no-OSA group (reference group), OSA enhanced ASCVD risk in subjects with dyslipidemia, regardless of OSA severity. After extensively adjusted for confounding variables, the odds of dyslipidemia plus mild-OSA was reduced to insignificance. While the effects of moderate- and severe-OSA on promoting ASCVD risk in subjects with dyslipidemia remained significant, with severe-OSA most prominent (odds ratio: 1.52, 95% confidence interval: 1.13-2.02). OSA combined dyslipidemia conferred additive adverse effects on cardiovascular system, with severe-OSA most prominent.

  3. Dyslipidemia in rural areas of North China: prevalence, characteristics, and predictive value.

    Science.gov (United States)

    Gao, Nannan; Yu, Yong; Zhang, Bingchang; Yuan, Zhongshang; Zhang, Haiqing; Song, Yongfeng; Zhao, Meng; Ji, Jiadong; Liu, Lu; Xu, Chao; Zhao, Jiajun

    2016-09-13

    The prevalence of cardiovascular disease has been increasing worldwide. As a common pathogenic risk factor, dyslipidemia played a great role in the incidence and progress of these diseases. We investigated to achieve accurate and up-to-date information on the prevalence of dyslipidemia and its associations with other lipid-related diseases in rural North China. Using a complex, multistage, probability sampling design, we conducted a large-scale cross-sectional study of 8528 rural participants aged over 18 years in Shandong Province. Prevalence and characteristics of dyslipidemia were demonstrated. The odds ratios between dyslipidemia types and lipid-related diseases were further analyzed by logistic regression. Among the overall population, 45.8 % suffered from dyslipidemia. The prevalence of lipid abnormality (including high and very high levels) was 18.6, 12.7, 9.8 and 12.7 % for total cholesterol (TC), high-density lipoprotein (HDL), and low-density lipoprotein (LDL) cholesterol and triglycerides (TG), respectively. Among all participants with dyslipidemia, 23.9 % were aware, only 11.5 % were treated, 10.0 % were controlled. For subjects with dyslipidemia, the risk for non-alcoholic fatty liver disease (NAFLD) was highest with a 3.3-fold over that of non-dyslipidmia (OR = 3.30, P Dyslipidemia has become a serious public health issue in rural North China. The rapid increase of high TC and incremental risk of high TG may contribute to the epidemic of AS, NAFLD and DM. It is imperative to develop individualized prevention and treatment guidelines according to dyslipidemia phenotypes.

  4. Prevalence, awareness, treatment and control of dyslipidemia among adults in Northwestern China: the cardiovascular risk survey

    Science.gov (United States)

    2014-01-01

    Aim The aim of this study was to estimate the prevalence, awareness, treatment, and control of dyslipidemia in Xinjiang, China. Method Stratified sampling method was used to select a representative sample of the general population including Chinese Han, Uygur, and Kazak in this geographic area. Seven cities were chosen. Based on the government records of registered residences, one participant was randomly selected from each household. The eligibility criterion for the study was ≥ 35 years of age. Results A total of 14,618 participants (5,757 Han, 4,767 Uygur, and 4,094 Kazak), were randomly selected from 26 villages in 7 cities. The prevalence of dyslipidemia was 52.72% in the all participants. The prevalence of dyslipidemia was higher in Han than that in the other two ethnic (58.58% in Han, 48.27% in Uygur, and 49.60% in Kazak, P dyslipidemia was higher in men than that in women (56.4% vs. 49.3%, P dyslipidemia, the proportion of those who aware, treat, control of dyslipidemia were 53.67%, 22.51%, 17.09% in Han, 42.19%, 27.78%, 16.20% in Uygur, 37.02%, 21.11%, 17.77% in Kazak. Conclusion Dyslipidemia is highly prevalent in Xinjiang. The proportion of participants with dyslipidemia who were aware, treated, and controlled is unacceptably low. These results underscore the urgent need to develop national strategies to improve the prevention, detection, and treatment of dyslipidemia in Xinjiang. PMID:24393232

  5. Factors influencing dyslipidemia in statin-treated patients in Lebanon and Jordan: results of the Dyslipidemia International Study

    Directory of Open Access Journals (Sweden)

    Azar ST

    2014-05-01

    Full Text Available Sami T Azar,1 Hadi Abu Hantash,2 Selim Jambart,3 Mohammad M El-Zaheri,4 Rachoin Rachoin,5 Amal Chalfoun,6 Layla Lahoud,6 Osama Okkeh,2 Peter Bramlage,7 Philippe Brudi,8 Baishali M Ambegaonkar81American University of Beirut Medical Center, Beirut, Lebanon; 2Istishari Hospital, Amman, Jordan; 3St Joseph University Faculty of Medicine, Beirut, Lebanon; 4Jordan Hospital, Amman, Jordan; 5Notre Dame des Secours Hospital, Jbeil, Lebanon; 6MSD Levant, Beirut, Lebanon; 7Institut für Pharmakologie und präventive Medizin, Mahlow, Germany; 8Merck and Co, Inc., Whitehouse Station, NJ, USABackground: Cardiovascular disease is the leading cause of death and disability worldwide. Therefore, as part of the Dyslipidemia International Study (DYSIS, we have analyzed the prevalence of lipid abnormalities and risk factors for dyslipidemia in statin-treated patients in Lebanon and Jordan.Methods: This cross-sectional, multicenter study enrolled 617 patients at 13 hospitals in Lebanon and Jordan. Patients were at least 45 years old and had been treated with statins for at least 3 months. Multivariate logistic regression analysis was used to determine patient characteristics contributing to dyslipidemia during statin therapy.Results: Our findings indicated that 55.9% of statin-treated patients (mean age 60.3 years, 47% female in Lebanon and Jordan did not achieve goal levels for low-density lipoprotein cholesterol which were dependent on Systematic Coronary Risk Evaluation (SCORE risk, and 70% of patients (76% men and 63.3% of women were at very high cardiovascular risk. Low-density lipoprotein cholesterol goals were not achieved in 67.2% of those with very high cardiovascular risk. The most commonly prescribed statin was atorvastatin (44.6%, followed by simvastatin (27.7%, rosuvastatin (21.2%, fluvastatin (3.3%, pravastatin (3%, and lovastatin (0.2%. Approximately half of the population was treated with a statin dose potency of 4, equaling 40 mg of simvastatin. In

  6. Hypoadiponectinemia: A useful marker of dyslipidemia in women with polycystic ovary syndrome

    Directory of Open Access Journals (Sweden)

    Chih-Yuan Chang

    2012-12-01

    Conclusions: We demonstrated that adiponectin is an independent biomarker that is positively and evidently related to HDL-C and TGs in women with PCOS. Hypoadiponectinemia may be a useful marker of dyslipidemia in women with PCOS.

  7. Longitudinal Relationship of Depressive and Anxiety Symptoms With Dyslipidemia and Abdominal Obesity

    NARCIS (Netherlands)

    Dortland, Arianne K. B. van Reedt; Giltay, Erik J.; van Veen, Tineke; Zitman, Frans G.; Penninx, Brenda W. J. H.

    Objective: Previous research indicates that patients with severe symptoms of depression or anxiety are prone toward the development of dyslipidemia and abdominal obesity. We sought to study these associations longitudinally. Methods: Among 2126 Netherlands Study of Depression and Anxiety

  8. Longitudinal relationship of depressive and anxiety symptoms with dyslipidemia and abdominal obesity

    NARCIS (Netherlands)

    van Reedt Dortland, A.K.B.; Giltay, E.J.; van Veen, T.; Zitman, F. G.; Penninx, B.W.J.H.

    2013-01-01

    Objective: Previous research indicates that patients with severe symptoms of depression or anxiety are prone toward the development of dyslipidemia and abdominal obesity. We sought to study these associations longitudinally. Methods: Among 2126 Netherlands Study of Depression and Anxiety

  9. Management of Dyslipidemia in Patients with Hypertension, Diabetes, and Metabolic Syndrome.

    Science.gov (United States)

    Srikanth, Sundararajan; Deedwania, Prakash

    2016-10-01

    The purpose of this review is to discuss dyslipidemia in the various common clinical conditions including hypertension, diabetes mellitus, and metabolic syndrome and review the current therapeutic strategy in these settings. Dyslipidemias are common in patients with hypertension, diabetes mellitus, and metabolic syndrome. Epidemiologic studies have shown a strong correlation between serum lipid levels and risk of atherosclerotic cardiovascular disease. Multifactorial intervention strategies aimed at controlling lipids, blood pressure, and blood glucose simultaneously achieve maximal reductions in cardiovascular risk. Dyslipidemia and metabolic abnormalities are strongly associated with atherosclerosis and worse cardiovascular outcomes. While pharmacotherapy with statins has been proven to be beneficial for dyslipidemia, lifestyle modification emphasizing weight loss and regular exercise is an essential component of the interventional strategy. The common thread underlying atherosclerosis and metabolic abnormalities is endothelial dysfunction. Improved understanding of the role of endothelium in health and disease can potentially lead to novel therapies that may preempt development of atherosclerosis and its complications.

  10. Dronedarone and Amiodarone Induce Dyslipidemia and Thyroid Dysfunction in Rats

    Directory of Open Access Journals (Sweden)

    Li-Qin Jiang

    2016-05-01

    Full Text Available Background/Aims: Amiodarone, a thyroid hormone-like molecule, can induce dyslipidemia and thyroid dysfunction. However, the effects of dronedarone on lipid metabolism and of both dronedarone and amiodarone on thyroid function and lipid metabolism remain unknown. Methods: Fifty male Sprague-Dawley rats were randomly divided into 5 groups (10 in each group: normal control (NC, amiodarone-treated (AMT, dronedarone-treated (DRT, rats treated with amiodarone combined with polyene phosphatidylcholine (AC, and rats treated with dronedarone combined with polyene phosphatidylcholine (DC. Rats were given amiodarone (120 mg/kg/d, dronedarone (120 mg/kg/d, and polyene phosphatidylcholine (200 mg/kg/d for 13 weeks. At the end of weeks 4, 8, 12, and 13, plasma-free triiodothyronine (FT3, free thyroxine (FT4, triglycerides (TG, total cholesterol (TC, low-density lipoprotein cholesterol (LDL-c, and high-density lipoprotein cholesterol (HDL-c were determined. At the end of this protocol, rats were sacrificed and the thyroid glands were isolated, weighed, and examined histopathologically. The protein expression of Bcl-2 was measured by immunochemical staining. The mRNA expression of thyroglobulin (Tg, type-1 deiodinase (D1, and thyroid peroxidase (TPO were detected by polymerase chain reaction (PCR. Results: Compared with the NC group, FT3 and FT4 levels in the DRT and DC groups significantly increased at week 4 but declined thereafter. The AMT and AC groups had lower FT3 levels but comparable FT4 levels. The levels of TG, LDL-c, and HDL-c in the NC group were lower than those in the other groups whereas the LDL-c/HDL-c ratio was lowest in the AMT group. Bcl-2 expression significantly increased in the DRT group. The mRNA expression of Tg increased whereas the mRNA expression of D1 decreased. Dronedarone induced hyperthyroidism at the early stage and hypothyroidism at the late stage whereas amiodarone only caused hypothyroidism. Conclusion: Both dronedarone and

  11. DIETARY MANAGEMENT FOR DYSLIPIDEMIA IN LIVER TRANSPLANT RECIPIENTS.

    Science.gov (United States)

    Pinto, Andressa S; Chedid, Marcio F; Guerra, Léa T; Cabeleira, Daiane D; Kruel, Cleber D P

    2016-01-01

    Dyslipidemia occurs in approximately 70% of all liver transplant (LT) recipients, and no prior control studies have demonstrated any dietary intervention to change it. To analyze the effects of a dietary intervention on the lipid profile of dyslipidemic LT recipients. All LT recipients with dyslipidemia on clinical follow-up were enrolled. Anthropometric evaluation, food history, body composition (bioimpedance) and assessment of basal metabolism through indirect calorimetry were performed. Patients met with a dietitian and an individualized diet based on estimate of basal metabolism and consisting of 25% of the total energy value in total fat and dislipidemia ocorre em aproximadamente 70% de todos os pacientes transplantados de fígado em acompanhamento ambulatorial. Não há relato prévio de qualquer intervenção dietética que houvesse controlado a dislipidemia nesse grupo de pacientes. Analisar os efeitos de uma intervenção dietética no perfil lipídico de pacientes transplantados hepáticos dislipidêmicos em acompanhamento ambulatorial. Foram incluídos todos os pacientes adultos transplantados hepáticos com dislipidemia e em acompanhamento ambulatorial em nossa instituição. Avaliação antropométrica, anamnese alimentar, composição corporal (bioimpedância) e cálculo do metabolismo basal (calorimetria indireta) foram realizados. Pacientes foram atendidos por uma nutricionista e uma dieta individualizada baseada no metabolismo basal e consistindo de 25% do valor energético em gorduras totais e menos de 200 mg/dia de colesterol foi prescrita. Colesterol total (CT), HDL-colesterol (HDL), LDL-colesterol (LDL), triglicerídeos (TG) e medidas antropométricas foram medidos antes do início da dieta, sendo repetidos seis meses após o início da intervenção dietética. Cinquenta e três pacientes concluíram o seguimento e tinham idade 59±10 anos e 29 eram homens (51,8%). CT pré-intervenção=238,9±30; pós-intervenção=165,1±35, pdislipidemia em

  12. Prevalence of dyslipidemia in the Iraqi adult population

    International Nuclear Information System (INIS)

    Mula-Abed, Waad-Allah S.; Chilmeran, Saba K.

    2007-01-01

    Objective was to establish the prevalence of dyslipidemia in the Iraqi adult population in Mosul, according to the different recommended criteria. The study was carried out from October 2003 to April 2004, with 871 apparently healthy volunteers (413 males, 458 females) aged 20-70 year ([mean+- SD] 41.2+-13.8 year). Fasting blood specimens were collected from all subjects for measurement of serum lipid profile including triglycerides (TG), total cholesterol (TC), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), and ratios of cholesterol such as TC:HDL-C, LDL-C:HDL-C, and TG:HDL-C. Classification was carried out according to the different cut-off levels as recommended by the 2001 American National Cholesterol Education Program (NCEP) III using thresholds of TG>150mg/dl (2.0 mmol/L), LDL-C>100 mg/dl (2.6 mmol/L), LDL-C 130mg/dl (3.37 mmol/L). The criteria of the 1998 British Hyperlipidemia Association (BHA) were also followed using thresholds of TG>180mg/dl (2.4mmol/L), TC>194mg/dl (5.0 mmol/L), LDL-C>116mg/dl (3.0mmol/L), HDL-C 5.0, HDL-C: DL-C>2.5 and TG: HDL-C>3.0. Based on the American NCEPIII criteria, the dyslipidemic states were noted with high TG (41.6%), high LDL-C (57.8%), low HDL-C (49.9%) and high HDL-C (57.8%), low HDL-C (49.9%) and high non-HDL-C (56.8%) from the subjects. Based on BHA criteria, high TG24.5%), high TC (32.7%), high HDL-C (37.8%), high TC: HDL-C (30.9%), high LDL-C HDL-C (55.7%) and high TG: HDL-C (58.3%) were noted. Dyslipidemia is common in Iraqi population, and this was identified at different recommendation criteria. (author)

  13. Prevalence of dyslipidemia in the Iraqi adult population

    Energy Technology Data Exchange (ETDEWEB)

    Mula-Abed, Waad-Allah S [Dept. of Chemical Pathology, Royal Hospital, Muscat (Oman); Chilmeran, Saba K [Dept. of Biochemistry, College of Medicine, Univ. of Mosul (Iraq)

    2007-07-01

    Objective was to establish the prevalence of dyslipidemia in the Iraqi adult population in Mosul, according to the different recommended criteria. The study was carried out from October 2003 to April 2004, with 871 apparently healthy volunteers (413 males, 458 females) aged 20-70 year ([mean+- SD] 41.2+-13.8 year). Fasting blood specimens were collected from all subjects for measurement of serum lipid profile including triglycerides (TG), total cholesterol (TC), high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), and ratios of cholesterol such as TC:HDL-C, LDL-C:HDL-C, and TG:HDL-C. Classification was carried out according to the different cut-off levels as recommended by the 2001 American National Cholesterol Education Program (NCEP) III using thresholds of TG>150mg/dl (2.0 mmol/L), LDL-C>100 mg/dl (2.6 mmol/L), LDL-C<40mg/dl (1.04mmol/L) and non-HDL-C>130mg/dl (3.37 mmol/L). The criteria of the 1998 British Hyperlipidemia Association (BHA) were also followed using thresholds of TG>180mg/dl (2.4mmol/L), TC>194mg/dl (5.0 mmol/L), LDL-C>116mg/dl (3.0mmol/L), HDL-C<45mg/dl (1.15mmol/L), TC: HDL-C>5.0, HDL-C: DL-C>2.5 and TG: HDL-C>3.0. Based on the American NCEPIII criteria, the dyslipidemic states were noted with high TG (41.6%), high LDL-C (57.8%), low HDL-C (49.9%) and high HDL-C (57.8%), low HDL-C (49.9%) and high non-HDL-C (56.8%) from the subjects. Based on BHA criteria, high TG24.5%), high TC (32.7%), high HDL-C (37.8%), high TC: HDL-C (30.9%), high LDL-C HDL-C (55.7%) and high TG: HDL-C (58.3%) were noted. Dyslipidemia is common in Iraqi population, and this was identified at different recommendation criteria. (author)

  14. Erectile Dysfunction Among HIV Patients Undergoing Highly Active Antiretroviral Therapy: Dyslipidemia as a Main Risk Factor

    Directory of Open Access Journals (Sweden)

    Gustavo Romero‐Velez, MD

    2014-04-01

    Conclusions: ED is highly prevalent in HIV patients. Dyslipidemia should be considered as a risk factor for ED in HIV patients. Romero‐Velez G, Lisker‐Cervantes A, Villeda‐Sandoval CI, Sotomayor de Zavaleta M, Olvera‐Posada D, Sierra‐Madero JG, Arreguin‐Camacho LO, and Castillejos‐Molina RA. Erectile dysfunction among HIV patients undergoing highly active antiretroviral therapy: Dyslipidemia as a main risk factor. Sex Med 2014;2:24–30.

  15. Prevalence of Dyslipidemia and Associated Factors in Obese Children and Adolescents.

    Science.gov (United States)

    Elmaoğulları, Selin; Tepe, Derya; Uçaktürk, Seyit Ahmet; Karaca Kara, Fatma; Demirel, Fatma

    2015-09-01

    Childhood-onset obesity is associated with increased mortality and morbidity related to cardiovascular diseases (CVD) during adulthood. Dyslipidemia has a fundamental role in the pathogenesis of CVD. This study aimed to evaluate the prevalence of dyslipidemia and related factors among obese children and adolescents. Obese patients aged between 2 and 18 years were included in the study. Serum concentrations of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL-C), high-density lipoprotein (HDL-C), fasting glucose levels, insulin, thyroid-stimulating hormone (TSH), free thyroxine (fT4), alanine aminotransferase (ALT), aspartate aminotransferase (AST), and liver ultrasound findings were evaluated retrospectively. Among 823 obese patients, 353 (42.9%) met the dyslipidemia criteria: 21.7% had hypertriglyceridemia, 19.7% had low levels of HDL-C, 18.6% had hypercholesterolemia, and 13.7% had high levels of LDL-C. Older age and/or high body mass index (BMI) were related to increased prevalence of dyslipidemia. Hepatosteatosis was more common among dyslipidemic patients. The frequency of insulin resistance (IR) and of higher levels of ALT and TSH were also detected in dyslipidemic patients. Patients with both dyslipidemia and grade 2-3 hepatosteatosis had higher levels of ALT, AST and TSH and lower levels of fT4. Prevalence of dyslipidemia is high in obese children, and hypertriglyceridemia is in the foreground. Higher levels of IR and more apparent abnormal liver function test results are observed in the context of dyslipidemia and hepatosteatosis coexistence. Metabolic and hormonal alterations related with thyroid functions may also be associated with dyslipidemia and hepatosteatosis in obese patients.

  16. Microbial Translocation in HIV Infection is Associated with Dyslipidemia, Insulin Resistance, and Risk of Myocardial Infarction

    DEFF Research Database (Denmark)

    Pedersen, Karin Kaereby; Pedersen, Maria; Trøseid, Marius

    2013-01-01

    Microbial translocation has been suggested to be a driver of immune activation and inflammation. We hypothesized that microbial translocation may be related to dyslipidemia, insulin resistance, and the risk of coronary heart disease in HIV-infected individuals.......Microbial translocation has been suggested to be a driver of immune activation and inflammation. We hypothesized that microbial translocation may be related to dyslipidemia, insulin resistance, and the risk of coronary heart disease in HIV-infected individuals....

  17. Microangiopathic complications related to different alleles of ...

    African Journals Online (AJOL)

    Egyptian Journal of Biochemistry and Molecular Biology. Journal Home ... Microangiopathic complications related to different alleles of manganese superoxide dismutase gene in diabetes mellitus type 1. TM EL Masry ... 23(2) 2005: 155-167 ...

  18. Pyramiding of transgenic Pm3 alleles in wheat results in improved powdery mildew resistance in the field.

    Science.gov (United States)

    Koller, Teresa; Brunner, Susanne; Herren, Gerhard; Hurni, Severine; Keller, Beat

    2018-04-01

    The combined effects of enhanced total transgene expression level and allele-specificity combination in transgenic allele-pyramided Pm3 wheat lines result in improved powdery mildew field resistance without negative pleiotropic effects. Allelic Pm3 resistance genes of wheat confer race-specific resistance to powdery mildew (Blumeria graminis f. sp. tritici, Bgt) and encode nucleotide-binding domain, leucine-rich repeat (NLR) receptors. Transgenic wheat lines overexpressing alleles Pm3a, b, c, d, f, and g have previously been generated by transformation of cultivar Bobwhite and tested in field trials, revealing varying degrees of powdery mildew resistance conferred by the transgenes. Here, we tested four transgenic lines each carrying two pyramided Pm3 alleles, which were generated by crossbreeding of lines transformed with single Pm3 alleles. All four allele-pyramided lines showed strongly improved powdery mildew resistance in the field compared to their parental lines. The improved resistance results from the two effects of enhanced total transgene expression levels and allele-specificity combinations. In contrast to leaf segment tests on greenhouse-grown seedlings, no allelic suppression was observed in the field. Plant development and yield scores of the pyramided lines were similar to the mean scores of the corresponding parental lines, and thus, the allele pyramiding did not cause any negative effects. On the contrary, in pyramided line, Pm3b × Pm3f normal plant development was restored compared to the delayed development and reduced seed set of parental line Pm3f. Allele-specific RT qPCR revealed additive transgene expression levels of the two Pm3 alleles in the pyramided lines. A positive correlation between total transgene expression level and powdery mildew field resistance was observed. In summary, allele pyramiding of Pm3 transgenes proved to be successful in enhancing powdery mildew field resistance.

  19. [High frequency of dyslipidemia in VIH-infected patients in aa peruvian public hospital].

    Science.gov (United States)

    Rondan, Paola L; Flores-Flores, Oscar; Doria, Nicole A; Valencia-Mesias, Gustavo; Chávez-Pérez, Víctor; Soria, Jaime

    2017-01-01

    The objective of the study was to determine the frequency and characteristics of dyslipidemia in patients with HIV in highly active antiretroviral therapy (HAART) in a Peruvian public hospital. A cross-sectional study was carried out in patients with complete lipid profile after receiving at least six months of HAART. Dyslipidemia was defined according to the criteria of the NCEP-ATP III. We reviewed 2 975 clinical histories, and included 538 (18.1%) in the analysis. The frequency of dyslipidemia was 74.7%. HAART regimens which include protease inhibitors (PI) (odds ratio [OR]: 1.22; confidence interval at 95% [CI 95%]: 1.11-1.33) and to be older than 40 years (OR: 1.17; CI 95%: 1.05-1.28) were associated with dyslipidemia, adjusted by viral load, CD4 lymphocyte level and gender. In conclusion, dyslipidemia was very common in our sample and was mainly associated with the use of PI. It is necessary to promote the dyslipidemia control as part of the comprehensive care of the patient with HIV.

  20. Effects of pitavastatin add-on therapy on chronic kidney disease with albuminuria and dyslipidemia.

    Science.gov (United States)

    Ohsawa, Masato; Tamura, Kouichi; Wakui, Hiromichi; Kanaoka, Tomohiko; Azushima, Kengo; Uneda, Kazushi; Haku, Sona; Kobayashi, Ryu; Ohki, Kohji; Haruhara, Kotaro; Kinguchi, Sho; Toya, Yoshiyuki; Umemura, Satoshi

    2015-12-09

    In non-dialysis chronic kidney disease (CKD) patients with dyslipidemia, statin therapy is recommended to prevent cardiovascular complications. Dyslipidemia has been also shown to be an independent risk factor for the progression of CKD. However, it is still unclear whether statin therapy exerts an inhibitory effect on renal deterioration in CKD patients with dyslipidemia. The purpose of the present study was to examine possible therapeutic effects of statin add-on therapy on renal function as well as parameters of lipid and glucose metabolism, arterial stiffness and oxidative stress, in comparison to diet therapy, in CKD patients with dyslipidemia. This study was a randomized, open-label, and parallel-group trial consisted of a 12-months treatment period in non-dialysis CKD patients with alubuminuria and dyslipidemia. Twenty eight patients were randomly assigned either to receive diet counseling alone (diet therapy group) or diet counseling plus pitavastatin (diet-plus-statin therapy group), to achieve the LDL-cholesterol (LDL-C) target of dyslipidemia.

  1. Association of Dyslipidemia and Sex With Coronary Artery Calcium Assessed by Coronary Computed Tomography Angiography.

    Science.gov (United States)

    Asami, Masahiko; Yamaji, Kyohei; Aoki, Jiro; Tanimoto, Shuzou; Watanabe, Mika; Horiuchi, Yu; Furui, Koichi; Kato, Nahoko; Hara, Kazuhiro; Tanabe, Kengo

    2017-10-21

    Previous studies reporting that statin increases coronary artery calcium (CAC) were conducted exclusively on patients with statin as a prevention, regardless of the presence or absence of dyslipidemia. The impact of sex on CAC has not been fully evaluated. We aimed to determine the association of dyslipidemia and sex with CAC using 320-row multi-detector computed tomography (MDCT).Of the 356 consecutive patients who underwent coronary MDCT, 251 patients were enrolled, after excluding those with prior stenting and/or coronary bypass grafting or images showing motion artifacts. The primary outcome measures were the percent calcium volume (PCV) and percent atheroma volume (PAV) per coronary vessel.Multivariable analyses indicated that PCV was significantly higher in dyslipidemia patients without statins than in the subjects without dyslipidemia [partial regression coefficient (PRC): 2.59, 95% confidence interval (CI): 0.83 to 4.34, P = 0.004]. In contrast, PCV was similar in dyslipidemia patients taking statins and those without dyslipidemia (PRC: -1.09, 95% CI: -2.82 to 0.65, P = 0.22). There was no significant difference in PCV between men and women, although women exhibited a significantly lower PAV (PRC: -2.87, 95% CI: -4.54 to -1.20, P = 0.001).In low-risk patients, these results could be translated into hypotheses, which should be tested in future prospective studies. Furthermore, there was no significant difference in CAC between men and women, but women had lower PAV than men.

  2. [Dyslipidemias in school-age chilean children: prevalence and associated factors].

    Science.gov (United States)

    Barja Yáñez, Salesa; Arnaiz Gómez, Pilar; Villarroel Del Pino, Luis; Domínguez de Landa, Angélica; Castillo Valenzuela, Oscar; Farías Jofré, Marcelo; Mardones Santander, Francisco

    2015-05-01

    Dyslipidemias are a key cardiovascular risk factor, and are increased since early childhood. The objective of this study was to describe the prevalence, characteristics of dyslipidemias and associated factors in a population of Chilean children. Cross-sectional study done in school-age children from Santiago, Chile (2009-2011). Parents answered questions about family medical history and children answered questions about physical activity. Anthropometry was performed and in a blood sample (12 hours fast) lipid profile, glycemia and insulinemia were measured. We recruited 2900 euglycemic children, 11.4 ± 0.97 years old, 52% girls. According to BMI, 22.5% were overweight and 15,3% had obesity. Considering recommended cut-off points for lipids, 69.3% were in acceptable range, 19.2% at risk and 11.5% at high cardiovascular risk. In total, 32% of the population had any clinical form of dyslipidemia: Isolated hypertriglyceridemia (9.4%), low HDL-C (7.6%), isolated hypercholesterolemia (4.9%), atherogenic dyslipidemia (6.24%) and mixed dyslipidemia (3.9%). Except for isolated hypercholesterolemia, dyslipidemias were more frequent in girls (globally 36.2% vs. 27.4%, pdyslipidemia, and the principal determinant was weight excess. Copyright AULA MEDICA EDICIONES 2014. Published by AULA MEDICA. All rights reserved.

  3. Prevalence of Dyslipidemia Among Antiretroviral-Naive HIV-Infected Individuals in China

    Science.gov (United States)

    Shen, Yinzhong; Wang, Jiangrong; Wang, Zhenyan; Qi, Tangkai; Song, Wei; Tang, Yang; Liu, Li; Zhang, Renfang; Lu, Hongzhou

    2015-01-01

    Abstract Little is known about the epidemiological features of dyslipidemia among antiretroviral-naive HIV-infected individuals in China. We used a cross-sectional study design to estimate the prevalence of dyslipidemia in this population, and to identify risk factors associated with the presence of dyslipidemia. One thousand five hundred and eighteen antiretroviral-naive HIV-infected individuals and 347 HIV-negative subjects in China were enrolled during 2009 to 2010. Demographics and medical histories were recorded. After an overnight fast, serum samples were collected to measure lipid levels. Factors associated with the presence of dyslipidemia were analyzed by logistic regression. Mean total cholesterol (TC), low-density lipoprotein cholesterol (LDL), high-density lipoprotein cholesterol (HDL) levels were lower in HIV-positive than HIV-negative subjects, but mean triglyceride (TG) was higher in HIV-positive subjects. The overall prevalence of dyslipidemia in HIV-positive and HIV-negative groups did not differ (75.6% vs. 73.7%, P = 0.580). However, the prevalence of high TC (8.4% vs. 28.2%, P dyslipidemia characterized by high TG and low HDL, which was associated with lower CD4 counts. These data support the assessment of lipid profiles before and after initiation of antiretroviral therapy regardless of age. PMID:26632908

  4. Differences of prevalence of dyslipidemia and risk factors related to LDL-c in the patients with abnormal fasting glucose between Uygur and Han in Xinjiang.

    Science.gov (United States)

    Quan, Li; Hu, Lin; Zhang, Li; Jiang, Sheng

    2015-01-01

    To evaluate the incidence of dyslipidemia among Uygur and Han patients with impaired fasting glucose (IFG). To investigate the influence factors on LDL-c in this population. This cross-sectional study included a total of 4709 participants, consisting of Uygurs patients (n=2053) and Han patients (n=2656) from Xinjiang province, who were screened for diabetes mellitus. A stratified multistage sampling design was used to collect the participants. The influence factors on LDL-c were analyzed by Logistic regression analysis. Among the IFG patients (n=1757), Uighur IFG group had a higher prevalence of dyslipidemia than that of Han IFG group, 99.8% vs. 63.7%, Pdifference in the Han groups. Logistic regression analysis revealed that risk factors associated with LDL-c were age, total cholesterol and 2 h postprandial blood glucose for the Uighur IFG patients. However, gender and total cholesterol were risk factors for Han IFG patients. Uighur IFG patients had higher incidence of dyslipidemia than that of Han IFG patients. For Uyghur IFG patients, closing follow-up of total cholesterol and 2 h postprandial blood glucose were necessary. As to the Han IFG patients, we should pay more attention to male and total cholesterol in order to lower LDL-c levels. So, appropriately preventive and therapeutic measures should be chosen based on the characteristics of abnormal lipid profiles in different nationality.

  5. Tributyltin exposure induces gut microbiome dysbiosis with increased body weight gain and dyslipidemia in mice.

    Science.gov (United States)

    Guo, Hao; Yan, Haotian; Cheng, Dong; Wei, Xinglong; Kou, Ruirui; Si, Jiliang

    2018-05-03

    Gut microbiome dysbiosis plays a profound role in the pathogenesis of obesity and tributyltin (TBT) has been found as an environmental obesogen. However, whether TBT could disturb gut microbiome and the relationship between obesity induced by TBT exposure and alteration in gut microbiota are still unknown. In order to assess the association between them, mice were exposed to TBTCl (50 μg kg -1 ) once every three days from postnatal days (PNDs) 24 to 54. The results demonstrated that TBT exposure resulted in increased body weight gain, lager visceral fat accumulation and dyslipidemia in male mice on PND 84. Correspondingly, 16S rRNA gene sequencing revealed that TBT treatment decreased gut microbial species and perturbed the microbiome composition in mice. Furthermore, Pearson's corelation coefficient analysis showed a significantly negative correlation between the body weight and the alpha diversity of gut microbiome. These results suggested that TBT exposure could induce gut microbiome dysbiosis in mice, which might contribute to the obesity pathogenesis. Copyright © 2018 Elsevier B.V. All rights reserved.

  6. Anacetrapib, a New CETP Inhibitor: The New Tool for the Management of Dyslipidemias?

    Directory of Open Access Journals (Sweden)

    Theodosios D. Filippatos

    2017-09-01

    Full Text Available Cholesteryl ester transfer protein (CETP inhibitors significantly increase serum high-density lipoprotein cholesterol (HDL cholesterol levels and decrease low-density lipoprotein cholesterol (LDL cholesterol concentration. However, three drugs of this class failed to show a decrease of cardiovascular events in high-risk patients. A new CETP inhibitor, anacetrapib, substantially increases HDL cholesterol and apolipoprotein (Apo AI levels with a profound increase of large HDL2 particles, but also pre-β HDL particles, decreases LDL cholesterol levels mainly due to increased catabolism of LDL particles through LDL receptors, decreases lipoprotein a (Lp(a levels owing to a decreased Apo (a production and, finally, decreases modestly triglyceride (TRG levels due to increased lipolysis and increased receptor-mediated catabolism of TRG-rich particles. Interestingly, anacetrapib may be associated with a beneficial effect on carbohydrate homeostasis. Furthermore, the Randomized EValuation of the Effects of Anacetrapib Through Lipid-modification (REVEAL trial showed that anacetrapib administration on top of statin treatment significantly reduces cardiovascular events in patients with atherosclerotic vascular disease without any significant increase of adverse events despite its long half-life. Thus, anacetrapib could be useful for the effective management of dyslipidemias in high-risk patients that do not attain their LDL cholesterol target or are statin intolerable, while its role in patients with increased Lp(a levels remains to be established.

  7. Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria.

    Directory of Open Access Journals (Sweden)

    Melissa D Lage

    Full Text Available Primary Hyperoxaluria Type 1 (PH1 is a rare autosomal recessive kidney stone disease caused by deficiency of the peroxisomal enzyme alanine: glyoxylate aminotransferase (AGT, which is involved in glyoxylate detoxification. Over 75 different missense mutations in AGT have been found associated with PH1. While some of the mutations have been found to affect enzyme activity, stability, and/or localization, approximately half of these mutations are completely uncharacterized. In this study, we sought to systematically characterize AGT missense mutations associated with PH1. To facilitate analysis, we used two high-throughput yeast-based assays: one that assesses AGT specific activity, and one that assesses protein stability. Approximately 30% of PH1-associated missense mutations are found in conjunction with a minor allele polymorphic variant, which can interact to elicit complex effects on protein stability and trafficking. To better understand this allele interaction, we functionally characterized each of 34 mutants on both the major (wild-type and minor allele backgrounds, identifying mutations that synergize with the minor allele. We classify these mutants into four distinct categories depending on activity/stability results in the different alleles. Twelve mutants were found to display reduced activity in combination with the minor allele, compared with the major allele background. When mapped on the AGT dimer structure, these mutants reveal localized regions of the protein that appear particularly sensitive to interactions with the minor allele variant. While the majority of the deleterious effects on activity in the minor allele can be attributed to synergistic interaction affecting protein stability, we identify one mutation, E274D, that appears to specifically affect activity when in combination with the minor allele.

  8. Allele Workbench: transcriptome pipeline and interactive graphics for allele-specific expression.

    Directory of Open Access Journals (Sweden)

    Carol A Soderlund

    Full Text Available Sequencing the transcriptome can answer various questions such as determining the transcripts expressed in a given species for a specific tissue or condition, evaluating differential expression, discovering variants, and evaluating allele-specific expression. Differential expression evaluates the expression differences between different strains, tissues, and conditions. Allele-specific expression evaluates expression differences between parental alleles. Both differential expression and allele-specific expression have been studied for heterosis (hybrid vigor, where the hybrid has improved performance over the parents for one or more traits. The Allele Workbench software was developed for a heterosis study that evaluated allele-specific expression for a mouse F1 hybrid using libraries from multiple tissues with biological replicates. This software has been made into a distributable package, which includes a pipeline, a Java interface to build the database, and a Java interface for query and display of the results. The required input is a reference genome, annotation file, and one or more RNA-Seq libraries with optional replicates. It evaluates allelic imbalance at the SNP and transcript level and flags transcripts with significant opposite directional allele-specific expression. The Java interface allows the user to view data from libraries, replicates, genes, transcripts, exons, and variants, including queries on allele imbalance for selected libraries. To determine the impact of allele-specific SNPs on protein folding, variants are annotated with their effect (e.g., missense, and the parental protein sequences may be exported for protein folding analysis. The Allele Workbench processing results in transcript files and read counts that can be used as input to the previously published Transcriptome Computational Workbench, which has a new algorithm for determining a trimmed set of gene ontology terms. The software with demo files is available

  9. Abnormal segregation of alleles in CEPH pedigree DNAs arising from allele loss in lymphoblastoid DNA.

    Science.gov (United States)

    Royle, N J; Armour, J A; Crosier, M; Jeffreys, A J

    1993-01-01

    Somatic events that result in the reduction to hemi- or homozygosity at all loci affected by the event have been identified in lymphoblastoid DNA from mothers of two CEPH families. Using suitably informative probes, the allele deficiencies were detected by the abnormal transmission of alleles from grandparents to grandchildren, with the apparent absence of the alleles from the parent. Undetected somatic deficiencies in family DNAs could result in misscoring of recombination events and consequently introduce errors into linkage analysis.

  10. [Awareness rate, treatment rate and control rate of dyslipidemia in Chinese adults, 2010].

    Science.gov (United States)

    Li, Jian-hong; Wang, Li-min; Mi, Sheng-quan; Zhang, Mei; Li, Yi-chong; Jiang, Yong; Xu, Yu; Dai, Meng; Wang, Lin-hong

    2012-08-01

    To explore the awareness, treatment and control rates of dyslipidemia among Chinese adults aged over 18 in 2010, and to analyze the prevalent features. 97 409 subjects aged over 18 were recruited from 162 monitoring sites around 31 provinces in China mainland in 2010, applying multi-stage stratified cluster random sampling method. Information about subjects' history of dyslipidemia, treatment and control were collected by face-to-face interview; and each subject's fasting venous blood was drawn in the morning before having food, to test total cholesterol (TC), triglyceride (TG), high density lipoprotein-cholesterol (HDL-C) and low density lipoprotein-cholesterol (LDL-C). In total, 51 818 cases of dyslipidemia ever or now, including 2235 subjects who once suffered from dyslipidemia but had their blood lipid controlled to normal, were screened out. And the awareness, treatment and control rates were calculated by complex weighting. The awareness rate of dyslipidemia among Chinese adults was 10.93%, while the stratified rates were 6.00%, 16.75% and 18.74% in the groups of subjects aged 18 - 44, 45 - 59 and over 60 years old, respectively (χ² = 1293.02, P China, respectively (χ² = 117.04, P China, respectively (χ² = 50.71, P control rate of dyslipidemia was 3.53% among total subjects, while whose stratified rates were 1.64%, 5.49% and 6.94% in the groups of subjects aged 18 - 44, 45 - 59 and over 60 years old, respectively (χ² = 554.12, P China, respectively (χ² = 91.45, P control rates of dyslipidemia have been comparatively low among Chinese adults, especially among the population who were young, or who were from rural area or western China.

  11. Dyslipidemia and its risk factors in overweight and obese children and adolescents

    Directory of Open Access Journals (Sweden)

    Patricia Lucía Casavalle

    2014-09-01

    Full Text Available Introduction: Obesity and overweight are frequently associated with metabolic complications. Objective: to estimate the prevalence of dyslipidemia in overweight and obese children and adolescents and its risk factors (RF, and the concordance between different cut-off values (Cook et al. vs. American Academy of Cardiology of triglycerides (TG and HDL-C.Material and Methods: 139 patients (aged 8-14 years with overweight or obesity, attending the outpatient Pediatric Clinic, Division of Nutrition, San Martin University Hospital, Buenos Aires, Argentina, from February 2005 to January 2013, were studied. The design was descriptive, observational, prospective, crossover and comparison of independent samples. Dyslipidemia was considered when: Total cholesterol (TC≥200 mg/dl or HDL-C≤40 mg/dl or TG≥110 mg/dl or LDL-C≥130mg/dl. Increased waist circumference (WC≥90th percentile, according Freedman et al., low weight at birth (<2,5 kg., family history of dyslipidemia and acute myocardial infarction (AMI were considered as risk factors. The concordance between the cut-off values of TG (≥110 and ≥150 mg/dl and also of HDL-C (≤40 and <35 mg/dl were analyzed.Results: The prevalence of dyslipidemia was 50,4%; the most abnormal lipid fractions was the TG (31,7% and the most frequently RF was the increased WC (55,4%. The concordance between cut-off values was weak for TG (Kappa index=0.38, and moderate for HDL-C (Kappa index=0,52.Conclusions: The high prevalence of dyslipidemia was similar to other reports. The risk factors for dyslipidemia were the increased WC and family history of dyslipidemia. Due to the degree of concordance for TG and HDL-C it is relevant the cut-off values to be considered.

  12. [A study on the epidemic characteristics of dyslipidemia in adults of nine provinces of China].

    Science.gov (United States)

    Dai, J; Min, J Q; Yang, Y J

    2018-02-24

    Objective: To explore the current prevalence of dyslipidemia in adult population of 9 provinces of China and the epidemic characteristics of this disease. The potential influence of social economic development on dyslipidemia was also observed. Methods: Present research data are derived from the result of the investigation about survey on health and nutrition in China in 2011, in which multistage stratified cluster random sampling method was adopted to investigate the 24 345 individuals in 216 communities from 9 provinces in China and 10 242 blood samples were collected. In this research, 8 669 blood samples of people over 18 years old were selected for final analysis. After adjustment of age, the percentage of dyslipidemia patients in Chinese adults was calculated. Results: The percentage of dyslipidemia in Chinese adults is 39.91% (3 460/8 669). The percentage of dyslipidemia at the age of 18-24, 35-44, 45-59 and over 60 years old were 30.25% (373/1 233),37.19% (774/2 081), 44.22% (1 304/2 949) and 41.94%(1 009/2 406),respectively (χ(2)=333.02, Pdyslipidemia in male and female population was 51.11% (1 956/3 827) and 31.06%(1 504/4 842), respectively (χ(2)=60.35, Pdyslipidemia in urban residents and rural residents was 42.56% (1 144/2 687) and 38.72%(2 316/5 982), respectively (χ(2)=11.72, Pdyslipidemia in high-GDP regions and low-GDP regions was 43.04% (1 567/3 641) and 37.65% (1 893/5 028), respectively (χ(2)=25.57, Pdyslipidemia in Chinese adults is high and the prevalence increases in a fast pace. The current situation of dyslipidemia in Chinese adults is critical and targeted strategies should be applied to control the dyslipidemia in adult Chinese population.

  13. Increased Visceral Adipose Tissue Is an Independent Predictor for Future Development of Atherogenic Dyslipidemia.

    Science.gov (United States)

    Hwang, You-Cheol; Fujimoto, Wilfred Y; Hayashi, Tomoshige; Kahn, Steven E; Leonetti, Donna L; Boyko, Edward J

    2016-02-01

    Atherogenic dyslipidemia is frequently observed in persons with a greater amount of visceral adipose tissue (VAT). However, it is still uncertain whether VAT is independently associated with the future development of atherogenic dyslipidemia. The aim of this study was to determine whether baseline and changes in VAT and subcutaneous adipose tissue (SAT) are associated with future development of atherogenic dyslipidemia independent of baseline lipid levels and standard anthropometric indices. Community-based prospective cohort study with 5 years of follow-up. A total of 452 Japanese Americans (240 men, 212 women), aged 34-75 years were assessed at baseline and after 5 years of follow-up. Abdominal fat areas were measured by computed tomography. Atherogenic dyslipidemia was defined as one or more abnormalities in high-density lipoprotein (HDL) cholesterol, triglycerides, or non-HDL cholesterol levels. Baseline VAT and change in VAT over 5 years were independently associated with log-transformed HDL cholesterol, log-transformed triglyceride, and non-HDL cholesterol after 5 years (standardized β = -0.126, 0.277, and 0.066 for baseline VAT, respectively, and -0.095, 0.223, and 0.090 for change in VAT, respectively). However, baseline and change in SAT were not associated with any future atherogenic lipid level. In multivariate logistic regression analysis, incremental change in VAT (odds ratio [95% confidence interval], 1.73 [1.20-2.48]; P = .003), triglycerides (4.01 [1.72-9.33]; P = .001), HDL cholesterol (0.32 [0.18-0.58]; P dyslipidemia independent of age, sex, diastolic blood pressure, homeostasis model assessment insulin resistance, body mass index (BMI), change in BMI, SAT, and baseline atherogenic lipid levels. Baseline and change in VAT were independent predictors for future development of atherogenic dyslipidemia. However, BMI, waist circumference, and SAT were not associated with future development of atherogenic dyslipidemia.

  14. Prevalence and pattern of dyslipidemia in type 2 diabetes mellitus patients in a rural tertiary care centre, southern India

    Directory of Open Access Journals (Sweden)

    Jayarama N

    2012-06-01

    Full Text Available Diabetes mellitus (DM is a common secondary cause of hyperlipidaemia, particularly, if glycaemic control is poor, which in-turn is an important risk factor for atherosclerosis and coronary heart disease. The spectrum of dyslipidemia in diabetes mellitus can include all the various types of dyslipidemia identified in the general population Objectives: To study the prevalence and pattern of dyslipidemia in type 2 diabetes. Methods: This is a cross sectional study, done on type 2 diabetes patients attending medicine outpatient department of RL Jalappa hospital, Kolar between March 2010 to April 2012 . All the patients were interviewed with pre-designed Performa. Fasting lipid profile and Glycosylated hemoglobin (HbA1c of patients were measured. Patients suffering from other causes of secondary dyslipidemia were excluded. Patients having one or more parameters outside the targets recommended by American Diabetes Association (ADA were considered to have dyslipidemia. Results: A total of 820 type 2 DM patients (533 males and 287 females were studied. Prevalence of dyslipidemia among diabetic males was 95.4 % and 86.75% in females. Among males with dyslipidemia the proportion of patients with mixed dyslipidemia, combined two parameter dyslipidemia and isolated single parameter dyslipidemia were 24.5%, 44.2%, and 31.2% respectively. Figures for the same among female patients stood at 27.3%, 42.97% and 29.7% respectively. Conclusion: Majority of type 2 diabetic patients were dyslipidimic. The most common pattern of dyslipidemia among males was combined dyslipidemia with high triglycerides (TG and low High density lipoprotein (HDL and in females it was high Low density lipoprotein (LDL and low HDL. The most prevalent lipid abnormality in our study was low HDL followed by high TG. No significant relation was found between HbA1c and serum lipid parameters

  15. Prevalence and pattern of dyslipidemia in type 2 diabetes mellitus patients in a rural tertiary care centre, southern India.

    Directory of Open Access Journals (Sweden)

    Jayarama N

    2012-01-01

    Full Text Available Diabetes mellitus (DM is a common secondary cause of hyperlipidaemia, particularly, if glycaemic control is poor, which in-turn is an important risk factor for atherosclerosis and coronary heart disease. The spectrum of dyslipidemia in diabetes mellitus can include all the various types of dyslipidemia identified in the general population Objectives: To study the prevalence and pattern of dyslipidemia in type 2 diabetes. Methods: This is a cross sectional study, done on type 2 diabetes patients attending medicine outpatient department of RL Jalappa hospital, Kolar between March 2010 to April 2012 . All the patients were interviewed with pre-designed Performa. Fasting lipid profile and Glycosylated hemoglobin (HbA1c of patients were measured. Patients suffering from other causes of secondary dyslipidemia were excluded. Patients having one or more parameters outside the targets recommended by American Diabetes Association (ADA were considered to have dyslipidemia. Results: A total of 820 type 2 DM patients (533 males and 287 females were studied. Prevalence of dyslipidemia among diabetic males was 95.4 % and 86.75% in females. Among males with dyslipidemia the proportion of patients with mixed dyslipidemia, combined two parameter dyslipidemia and isolated single parameter dyslipidemia were 24.5%, 44.2%, and 31.2% respectively. Figures for the same among female patients stood at 27.3%, 42.97%and29.7%respectively. Conclusion: Majority of type 2 diabetic patients were dyslipidimic. The most common pattern of dyslipidemia among males was combined dyslipidemia with high triglycerides (TG and low High density lipoprotein (HDL and in females it was high Low density lipoprotein (LDL and low HDL. The most prevalent lipid abnormality in our study was low HDL followed by high TG. No significant relation was found between HbA1c and serum lipid parameters.

  16. Alcohol Drinking, Dyslipidemia, and Diabetes: A Population-based Prospective Cohort Study among Inner Mongolians in China.

    Science.gov (United States)

    Liang, Zhu; Qiu, Qiao Yan; Wu, Jia Hui; Zhou, Jing Wen; Xu, Tian; Zhang, Ming Zhi; Zhang, Yong Hong; Zhang, Shao Yan

    2016-08-01

    No previous studies have evaluated the association between dyslipidemia, alcohol drinking, and diabetes in an Inner Mongolian population. We aimed to evaluate the co-effects of drinking and dyslipidemia on diabetes incidence in this population. The present study was based on 1880 participants from a population-based prospective cohort study among Inner Mongolians living in China. Participants were classified into four subgroups according to their drinking status and dyslipidemia. Multivariate logistic regression analysis and receiver operating characteristic (ROC) curves were used to evaluate the association between alcohol drinking, dyslipidemia, and diabetes. During the follow-up period, 203 participants were found to have developed diabetes. The multivariable-adjusted odds ratios (95% confidence interval) for the incidence of non-dyslipidemia/drinkers, dyslipidemia/non-drinkers, and dyslipidemia/drinkers in diabetic patients were 1.40 (0.82-2.37), 1.73 (1.17-2.55), and 2.31 (1.38-3.87), respectively, when compared with non-dyslipidemia/non-drinkers. The area under the ROC curve for a model containing dyslipidemia and drinking status along with conventional factors (AUC=0.746) was significantly (P=0.003) larger than the one containing only conventional factors (AUC=0.711). The present study showed that dyslipidemia was an independent risk factor for diabetes, and that drinkers with dyslipidemia had the highest risk of diabetes in the Mongolian population. These findings suggest that dyslipidemia and drinking status may be valuable in predicting diabetes incidence. Copyright © 2016 The Editorial Board of Biomedical and Environmental Sciences. Published by China CDC. All rights reserved.

  17. [Atherogenic dyslipidemia in patients with type 1 diabetes mellitus].

    Science.gov (United States)

    Chillarón, Juan J; Sales, María P; Flores Le-Roux, Juana A; Castells, Ignasi; Benaiges, David; Sagarra, Enric; Pedro-Botet, Juan

    2013-12-07

    To assess the prevalence of lipid abnormalities, with special emphasis on atherogenic dyslipidemia and its relationship with chronic complications in patients with type 1 diabetes mellitus (T1DM). Cross-sectional study including all patients aged 18 and over, diagnosed of T1DM attending the outpatient clinic at Hospital del Mar and Hospital de Granollers, in Barcelona, during 2008. Of the 291 enrolled patients, 17.2 and 7.9% had high density lipoproteins (HDL) cholesterol150 mg/dL, respectively. Hypoalphalipoproteinemic patients had a higher prevalence of peripheral neuropathy (28 vs. 7.1%, P<.001), macroalbuminuria (14 vs. 2.5%, P<.001) and higher concentrations of triglycerides (107.5 [55.8] vs. 82.7 [36] mg/dL, P<.0001) compared with those with normal/high HDL cholesterol levels. Hypertriglyceridemia was associated with increasing age (43.6 [11.2] vs. 37.6 [11.8] yr, P<.02), higher prevalence of hypertension (47.8 vs. 22.8%, P<.008), metabolic syndrome (82.6 vs. 22%, P<.001) and microangiopathic complications, lower insulin sensitivity (6.75 [2.1] vs. 8.54 [2.6] mg/Kg(-1)/min(-1), P<.004) compared with the normotriglyceridemic group. One in 5 patients with T1DM has hypoalphalipoproteinemia or hypertriglyceridemia and these conditions are associated with 3 fold-increase microangiopathy. Thus, in these patients glycemic and blood pressure but also lipid profile control must be optimum. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  18. Estimated allele substitution effects underlying genomic evaluation models depend on the scaling of allele counts

    NARCIS (Netherlands)

    Bouwman, Aniek C.; Hayes, Ben J.; Calus, Mario P.L.

    2017-01-01

    Background: Genomic evaluation is used to predict direct genomic values (DGV) for selection candidates in breeding programs, but also to estimate allele substitution effects (ASE) of single nucleotide polymorphisms (SNPs). Scaling of allele counts influences the estimated ASE, because scaling of

  19. Allelic genealogies in sporophytic self-incompatibility systems in plants

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1998-01-01

    , alleles act codominantly in both pollen and style, in the SSIdom model, alleles form a dominance hierarchy, and in SSIdomcod, alleles are codominant in the style and show a dominance hierarchy in the pollen. Coalescence times of alleles rarely differ more than threefold from those under gametophytic self...

  20. Allelic Dropout in the ENG Gene, Affecting the Results of Genetic Testing in Hereditary Hemorrhagic Telangiectasia

    DEFF Research Database (Denmark)

    Tørring, Pernille M; Kjeldsen, A.D.; Ousager, L.B.

    2012-01-01

    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817......-3T>G in ENG) initially seemed to be homozygous for the mutation. Aim: To explore the possibility of allelic dropout causing a false result in this patient. Methods: Mutation analysis of additional family members was performed and haplotype analysis carried out. New primers were designed to reveal...... the presence of a possible sequence variant, which could explain the presumed allelic dropout. Results: Allelic dropout caused by a six-nucleotide duplication close to the standard reverse primer was the assumed cause of a false homozygous diagnosis. Conclusion: Sequence variants outside of the primer regions...

  1. Dyslipidemia and eye diseases in the adult Chinese population: the Beijing eye study.

    Directory of Open Access Journals (Sweden)

    Shuang Wang

    Full Text Available To determine associations between dyslipidemia and ocular diseases, the population-based Beijing Eye Study 2006 examined 3251 subjects (age≥45 years who underwent a detailed ophthalmic examination and biochemical blood analysis. Dyslipidemia was defined as any of the following: hypercholesterolemia (total cholesterol concentration≥5.72 mmol/L (220 mg/dL or hypertriglyceridemia (triglyceride concentration≥1.70 mmol/L (150 mg/dL or low high-density lipoprotein-cholesterol (HDL-C concentration≤0.91 mmol/L (35 mg/dL. Biochemical blood examinations were available for 2945 (90.6% subjects. After adjustment for age, gender, habitation region, body mass index, self reported income, blood glucose concentration, diastolic blood pressure and smoking, dyslipidemia was significantly associated with higher intraocular pressure (P<0.001 and beta zone of parapapillary atrophy (P = 0.03. Dyslipidemia was not significantly associated with the prevalence of glaucoma (P = 0.99, retinal vein occlusions (P = 0.92, diabetic retinopathy (P = 0.49,presence of retinal vascular abnormalities such as focal or general arteriolar narrowing, age-related macular degeneration(P = 0.27, nuclear cataract (P = 0.14, cortical cataract (P = 0.93, and subcapsular cataract (P = 0.67. The results make one conclude that, controlled for systemic and socioeconomic parameters, dyslipidemia was not associated with common ophthalmic disorders including glaucoma and age-related macular degeneration.

  2. Correlation between homocysteine and dyslipidemia in ischaemic stroke patients with and without hypertension

    Science.gov (United States)

    Aria Arina, Cut; Amir, Darwin; Siregar, Yahwardiah; Sembiring, Rosita J.

    2018-03-01

    Almost 80% of strokes are ischaemic and stroke is the third most common cause of death in developed countries, . The treatment of stroke still limited, the best approach to reduce mortality and morbidity is primary prevention through modification of acquired risk factors. Hypertension and dyslipidemia are one of the major risk factor for stroke while homocysteine is a less well-documented risk factor. The purpose of this study was to know the correlation between homocysteine and dyslipidemia in ischaemic stroke patients with and without hypertension. This study is a cross sectional study; the sample were taken consecutively. All sample matched with inclusion and exclusion criteria, demography data and blood sample were taken. Demography data was analyzed using descriptive statistic, to analyze the relation, we used Chi-Square test. p value dyslipidemia was found in 60 patients. There is a significant relation between homocysteine and dyslipidemia in ischaemic stroke patients with hypertension, p value = 0,009. A significant correlation between homocysteine and dyslipidemia might be because both of them have an important role in the acceleration of the atherosclerotic formation by activation platelet and thrombus, but we still need further study to get more explanation about the relation.

  3. LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias[S

    Science.gov (United States)

    Johansen, Christopher T.; Dubé, Joseph B.; Loyzer, Melissa N.; MacDonald, Austin; Carter, David E.; McIntyre, Adam D.; Cao, Henian; Wang, Jian; Robinson, John F.; Hegele, Robert A.

    2014-01-01

    We report the design of a targeted resequencing panel for monogenic dyslipidemias, LipidSeq, for the purpose of replacing Sanger sequencing in the clinical detection of dyslipidemia-causing variants. We also evaluate the performance of the LipidSeq approach versus Sanger sequencing in 84 patients with a range of phenotypes including extreme blood lipid concentrations as well as additional dyslipidemias and related metabolic disorders. The panel performs well, with high concordance (95.2%) in samples with known mutations based on Sanger sequencing and a high detection rate (57.9%) of mutations likely to be causative for disease in samples not previously sequenced. Clinical implementation of LipidSeq has the potential to aid in the molecular diagnosis of patients with monogenic dyslipidemias with a high degree of speed and accuracy and at lower cost than either Sanger sequencing or whole exome sequencing. Furthermore, LipidSeq will help to provide a more focused picture of monogenic and polygenic contributors that underlie dyslipidemia while excluding the discovery of incidental pathogenic clinically actionable variants in nonmetabolism-related genes, such as oncogenes, that would otherwise be identified by a whole exome approach, thus minimizing potential ethical issues. PMID:24503134

  4. Dyslipidemia awareness, treatment, control and influence factors among adults in the Jilin province in China: a cross-sectional study.

    Science.gov (United States)

    He, Huan; Yu, Ya-qin; Li, Yong; Kou, Chang-gui; Li, Bo; Tao, Yu-chun; Zhen, Qing; Wang, Chang; Kanu, Joseph Sam; Huang, Xu-feng; Han, Mei; Liu, Ya-wen

    2014-08-03

    In China, even though the prevalence of dyslipidemia among adults increased yearly and dyslipidemia being an important risk factor for cardiovascular diseases among the Chinese population, however, the awareness, treatment and control of dyslipidemia are at low levels, and only limited studies on the influence factors associated with the awareness, treatment and control dyslipidemia in China have been carried out. The analysis was based on a representative sample of 7138 adult subjects aged 18~79 years recruited from a cross-sectional study of chronic disease and risk factors among adults in the Jilin province in 2012. Chi-square test was used to compare the rates of dyslipidemia awareness, treatment and control between different characteristics of participants. Multiple logistic regression analyses were performed separately for each group to explore the associations between participants' characteristics and dyslipidemia awareness, treatment and control. Among participants with dyslipidemia, 11.6% were aware of the diagnosis, 8.4% were receiving treatment, and 34.8% had dyslipidemia controlled. Increase in age and BMI ≥ 24 kg/m2 were by far the strongest risk factors associated with better awareness and treatment of dyslipidemia. Retirees were more likely to be aware of their dyslipidemia condition (OR=1.255; 95% CI: 1.046, 1.506) and to be receiving treatment (OR=1.367; 95% CI: 1.114, 1.676) than manual workers. A family history of dyslipidemia increased the likelihood of awareness (OR=3.620; 95% CI: 2.816, 4.653) and treatment (OR=3.298; 95% CI: 2.488, 4.371) of dyslipidemia. Alcohol drinking and physical activity were associated with a lower level of awareness and treatment.Cigarette smokers (OR=0.501; 95% CI: 0.349, 0.719) and those with BMI ≥ 24 kg/m2 (OR=0.480; 95% CI: 0.326, 0.706) who received treatment were also associated with poor dyslipidemia control. Our study highlights low levels of awareness, poor treatment and control of dyslipidemia among

  5. Dyslipidemia awareness, treatment, control and influence factors among adults in the Jilin province in China: a cross-sectional study

    Science.gov (United States)

    2014-01-01

    Background In China, even though the prevalence of dyslipidemia among adults increased yearly and dyslipidemia being an important risk factor for cardiovascular diseases among the Chinese population, however, the awareness, treatment and control of dyslipidemia are at low levels, and only limited studies on the influence factors associated with the awareness, treatment and control dyslipidemia in China have been carried out. Methods The analysis was based on a representative sample of 7138 adult subjects aged 18 ~ 79 years recruited from a cross-sectional study of chronic disease and risk factors among adults in the Jilin province in 2012. Chi-square test was used to compare the rates of dyslipidemia awareness, treatment and control between different characteristics of participants. Multiple logistic regression analyses were performed separately for each group to explore the associations between participants’ characteristics and dyslipidemia awareness, treatment and control. Results Among participants with dyslipidemia, 11.6% were aware of the diagnosis, 8.4% were receiving treatment, and 34.8% had dyslipidemia controlled. Increase in age and BMI ≥ 24 kg/m2 were by far the strongest risk factors associated with better awareness and treatment of dyslipidemia. Retirees were more likely to be aware of their dyslipidemia condition (OR = 1.255; 95% CI: 1.046, 1.506) and to be receiving treatment (OR = 1.367; 95% CI: 1.114, 1.676) than manual workers. A family history of dyslipidemia increased the likelihood of awareness (OR = 3.620; 95% CI: 2.816, 4.653) and treatment (OR = 3.298; 95% CI: 2.488, 4.371) of dyslipidemia. Alcohol drinking and physical activity were associated with a lower level of awareness and treatment. Cigarette smokers (OR = 0.501; 95% CI: 0.349, 0.719) and those with BMI ≥ 24 kg/m2 (OR = 0.480; 95% CI: 0.326, 0.706) who received treatment were also associated with poor dyslipidemia control. Conclusion Our

  6. Prevalence of dyslipidemia in patients with type-2 diabetes mellitus

    International Nuclear Information System (INIS)

    Siddiqui, S.A.; Shabbir, I.; Sherwani, M.U.I.K.; Hussain, R.

    2011-01-01

    association with duration of diabetes. A significant association of hyperglycemia (raised HbA1c) was seen with hypertriglyceridemia and high LDL-C along with high body mass index i.e. obesity. Conclusions: Hypertriglyceridemia, high LDL-C and VLDL-C, low HDL-C levels and obesity were the pattern of dyslipidemia found in our diabetic population. (author)

  7. RHD alleles in the Tunisian population

    Science.gov (United States)

    Ouchari, Mouna; Jemni-Yaacoub, Saloua; Chakroun, Taher; Abdelkefi, Saida; Houissa, Batoul; Hmida, Slama

    2013-01-01

    Background: A comprehensive survey of RHD alleles in Tunisia population was lacking. The aim of this study was to use a multiplex RHD typing assay for simultaneous detection of partial D especially with RHD/RHCE deoxyribonucleic acid (DNA) sequence exchange mechanism and some weak D alleles. Materials and Methods: Six RHD specific primer sets were designed to amplify RHD exons 3, 4, 5, 6, 7 and 9. DNA from 2000 blood donors (1777 D+ and 223 D-) from several regions was selected for RHD genotyping using a PCR multiplex assay. Further molecular investigations were done to characterize the RHD variants that were identified by the PCR multiplex assay. Results: In the 1777 D+ samples, only 10 individuals showed the absence of amplification of exons 4 and 5 that were subsequently identified by PCR-SSP as weak D type 4 variants. No hybrid allele was detected. In the 223 D-, RHD amplification of some exons was observed only in 5 samples: 4 individuals expressed only RHD exon 9, and one subject lacking exons 4 and 5. These samples were then screened by PCR-SSPs on d(C) ces and weak D type 4, respectively. Conclusion: The weak D type 4 appears to be the most common D variant allele. We have not found any partial D variant. Findings also indicated that RHD gene deletion is the most prevalent cause of the D- phenotype in the Tunisian population. PMID:24014941

  8. Diversity of Lactase Persistence Alleles in Ethiopia

    DEFF Research Database (Denmark)

    Jones, BL; Raga, TO; Liebert, Anke

    2013-01-01

    The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (−13910∗T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene ...

  9. New insights into the pathophysiology of dyslipidemia in type 2 diabetes.

    Science.gov (United States)

    Taskinen, Marja-Riitta; Borén, Jan

    2015-04-01

    Cardiovascular disease (CVD) remains the leading cause of morbidity and mortality for patients with type 2 diabetes, despite recent significant advances in management strategies to lessen CVD risk factors. A major cause is the atherogenic dyslipidemia, which consists of elevated plasma concentrations of both fasting and postprandial triglyceride-rich lipoproteins (TRLs), small dense low-density lipoprotein (LDL) and low high-density lipoprotein (HDL) cholesterol. The different components of diabetic dyslipidemia are not isolated abnormalities but closely linked to each other metabolically. The underlying disturbances are hepatic overproduction and delayed clearance of TRLs. Recent results have unequivocally shown that triglyceride-rich lipoproteins and their remnants are atherogenic. To develop novel strategies for the prevention and treatment of dyslipidaemia, it is essential to understand the pathophysiology of dyslipoproteinaemia in humans. Here, we review recent advances in our understanding of the pathophysiology of diabetic dyslipidemia. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  10. Diet-induced dyslipidemia leads to nonalcoholic fatty liver disease and oxidative stress in guinea pigs

    DEFF Research Database (Denmark)

    Tveden-Nyborg, Pernille; Birck, Malene Muusfeldt; Ipsen, David Højland

    2016-01-01

    Chronic dyslipidemia imposed by a high-fat and high-caloric dietary regime leads to debilitating disorders such as obesity, nonalcoholic fatty liver disease (NAFLD), and insulin resistance. As disease rates surge, so does the need for high validity animal models to effectively study the causal...... and either 15% or 20% sucrose) compared with isocaloric standard chow in adult guinea pigs. Biochemical markers confirmed dyslipidemia in agreement with dietary regimens; however, both high-fat groups displayed a decreased tissue fat percentage compared with controls. Macroscopic appearance, histopathologic....... Evaluation of glucose tolerance showed no indication of insulin resistance. The 5% increase in sucrose between the 2 high-fat diets did not lead to significant differences between groups. In conclusion, we find the dyslipidemic guinea pig to be a valid model of diet imposed dyslipidemia, particularly...

  11. Atherogenic Dyslipidemia and Residual Cardiovascular Risk in Statin-Treated Patients

    DEFF Research Database (Denmark)

    Sirimarco, Gaia; Labreuche, Julien; Bruckert, Eric

    2014-01-01

    BACKGROUND AND PURPOSE: Treatment with statins reduces the rate of cardiovascular events in high-risk patients, but residual risk persists. At least part of that risk may be attributable to atherogenic dyslipidemia characterized by low high-density lipoprotein cholesterol (≤40 mg/dL) and high......% of subjects in PERFORM and 9% in SPARCL had atherogenic dyslipidemia after ≥3 months on start statin therapy. After a follow-up of 2.3 years (PERFORM) and 4.9 years (SPARCL), a major cardiovascular event occurred in 1123 and 485 patients in the 2 trials, respectively. The risk of major cardiovascular events...... was higher in subjects with versus those without atherogenic dyslipidemia in both PERFORM (hazard ratio, 1.36; 95% confidence interval, 1.14-1.63) and SPARCL (hazard ratio, 1.40; 95% confidence interval, 1.06-1.85). The association was attenuated after multivariable adjustment (hazard ratio, 1.23; 95...

  12. CYP3A4 allelic variants with amino acid substitutions in exons 7 and 12: evidence for an allelic variant with altered catalytic activity.

    Science.gov (United States)

    Sata, F; Sapone, A; Elizondo, G; Stocker, P; Miller, V P; Zheng, W; Raunio, H; Crespi, C L; Gonzalez, F J

    2000-01-01

    To determine the existence of mutant and variant CgammaP3A4 alleles in three racial groups and to assess functions of the variant alleles by complementary deoxyribonucleic acid (cDNA) expression. A bacterial artificial chromosome that contains the complete CgammaP3A4 gene was isolated and the exons and surrounding introns were directly sequenced to develop primers to polymerase chain reaction (PCR) amplify and sequence the gene from lymphocyte DNA. DNA samples from Chinese, black, and white subjects were screened. Mutating the affected amino acid in the wild-type cDNA and expressing the variant enzyme with use of the baculovirus system was used to functionally evaluate the variant allele having a missense mutation. To investigate the existence of mutant and variant CgammaP3A4 alleles in humans, all 13 exons and the 5'-flanking region of the human CgammaP3A4 gene in three racial groups were sequenced and four alleles were identified. An A-->G point mutation in the 5'-flanking region of the human CgammaP3A4 gene, designated CgammaP3A4*1B, was found in the three different racial groups. The frequency of this allele in a white population was 4.2%, whereas it was 66.7% in black subjects. The CgammaP3A4*1B allele was not found in Chinese subjects. A second variant allele, designated CgammaP3A4*2, having a Ser222Pro change, was found at a frequency of 2.7% in the white population and was absent in the black subjects and Chinese subjects analyzed. Baculovirus-directed cDNA expression revealed that the CYP3A4*2 P450 had a lower intrinsic clearance for the CYP3A4 substrate nifedipine compared with the wild-type enzyme but was not significantly different from the wild-type enzyme for testosterone 6beta-hydroxylation. Another rare allele, designated CgammaP3A4*3, was found in a single Chinese subject who had a Met445Thr change in the conserved heme-binding region of the P450. These are the first examples of potential function polymorphisms resulting from missense mutations in

  13. Dyslipidemia and associated risk factors in a resettlement colony of Delhi.

    Science.gov (United States)

    Sharma, Urvi; Kishore, Jugal; Garg, Ankur; Anand, Tanu; Chakraborty, Montosh; Lali, Pramod

    2013-01-01

    Cardiovascular diseases are a major cause of morbidity and mortality in India, with dyslipidemia contributing significantly to the risk. There are few community-based studies that highlight the burden and risk factors associated with dyslipidemia in the Indian population. To determine the prevalence and risk factors associated with dyslipidemia among adults ages 18 years and older in a resettlement colony located in central Delhi. A cross-sectional study that included a random sample of 200 adults was designed. A study tool based on the World Health Organization STEPwise approach to surveillance of noncommunicable diseases and their risk factors (STEPS) questionnaire was used. Fasting venous blood sample was collected to assess the lipid profile and anthropometric measures of the participants were recorded. Criteria based on the Third Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults were used to define the cut offs for dyslipidemia. Data were analyzed with the Statistical Package for Social Sciences, version 17. Of a total of 200 study subjects, 34% had increased total cholesterol levels (≥200 mg %), 38% had increased low-density lipoprotein levels (≥130 mg %), 40% had increased triglyceride levels (≥150 mg %), and 42% had low high-density lipoprotein levels (<40 mg %). Using the logistic regression model, we found age, hypertension, alcohol consumption, and abdominal obesity to be associated with increased odds of dyslipidemia. A high proportion of individuals in the community have dyslipidemia, often associated with modifiable risk factors. The situation demands programs aimed at risk factor reduction. A focus on behavior change and health promotion targeting the younger age group is recommended. Copyright © 2013 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  14. Predictive capacity of anthropometric indicators for dyslipidemia screening in children and adolescents.

    Science.gov (United States)

    Quadros, Teresa Maria Bianchini; Gordia, Alex Pinheiro; Silva, Rosane Carla Rosendo; Silva, Luciana Rodrigues

    2015-01-01

    To analyze the predictive capacity of anthropometric indicators and their cut-off values for dyslipidemia screening in children and adolescents. This was a cross-sectional study involving 1139 children and adolescents, of both sexes, aged 6-18 years. Body weight, height, waist circumference, subscapular, and triceps skinfold thickness were measured. The body mass index and waist-to-height ratio were calculated. Children and adolescents exhibiting at least one of the following lipid alterations were defined as having dyslipidemia: elevated total cholesterol, low high-density lipoprotein, elevated low-density lipoprotein, and high triglyceride concentration. A receiver operating characteristic curve was constructed and the area under the curve, sensitivity, and specificity was calculated for the parameters analyzed. The prevalence of dyslipidemia was 62.1%. The waist-to-height ratio, waist circumference, subscapular, body mass index, and triceps skinfold thickness, in this order, presented the largest number of significant accuracies, ranging from 0.59 to 0.78. The associations of the anthropometric indicators with dyslipidemia were stronger among adolescents than among children. Significant differences between accuracies of the anthropometric indicators were only observed by the end of adolescence; the accuracy of waist-to-height ratio was higher than that of subscapular (p=0.048) for females, and the accuracy of waist circumference was higher than that of subscapular (p=0.029) and body mass index (p=0.012) for males. In general, the cut-off values of the anthropometric predictors of dyslipidemia increased with age, except for waist-to-height ratio. Sensitivity and specificity varied substantially between anthropometric indicators, ranging from 75.6 to 53.5 and from 75.0 to 50.0, respectively. The anthropometric indicators studied had little utility as screening tools for dyslipidemia, especially in children. Copyright © 2015 Sociedade Brasileira de Pediatria

  15. The positive association of branched-chain amino acids and metabolic dyslipidemia in Chinese Han population.

    Science.gov (United States)

    Yang, Panpan; Hu, Wen; Fu, Zhenzhen; Sun, Luning; Zhou, Ying; Gong, Yingyun; Yang, Tao; Zhou, Hongwen

    2016-07-25

    It has been suggested that serum branched-chain amino acids (BCAAs) are associated with the incident, progression and prognostic of type 2 diabetes. However, the role of BCAAs in metabolic dyslipidemia (raised triglycerides (TG) and reduced high-density lipoprotein cholesterol (HDL-C)) remains poorly understood. This study aims to investigate 1) the association of serum BCAAs with total cholesterol (TC), TG, HDL-C and low-density lipoprotein cholesterol (LDL-C) and 2) the association between serum BCAAs levels and risk of metabolic dyslipidemia in a community population with different glucose homeostasis. Demographics data and blood samples were collected from 2251 Chinese subjects from the Huaian Diabetes Protective Program (HADPP) study. After exclusion for cardiovascular disease (CVD), serious hepatic or nephritic diseases and others, 1320 subjects remained for analysis (789 subjects with hemoglobin A1c (HbA1c) > 5.7, 521 with HbA1c ≤ 5.7). Serum BCAAs level was measured by liquid chromatography-tandem mass spectrometry (LC MS/MS). The association of BCAAs with lipids or with the risk of metabolic dyslipidemia was analyzed. Elevated serum BCAAs (both total and individual BCAA) were positively associated with TG and inversely associated with HDL-C in the whole population. These correlations were still significant even after adjustment for confounding factors (r = 0.165, p dyslipidemia was 3.703 (2.261, 6.065) and 3.702 (1.877, 7.304), respectively (all p dyslipidemia. In addition, glucose homeostasis could play a certain role in BCAAs-related dyslipidemia.

  16. Prevalence of dyslipidemia and associated factors among the hypertensive population from rural Northeast China.

    Science.gov (United States)

    Yu, Shasha; Yang, Hongmei; Guo, Xiaofan; Zhang, Xingang; Zheng, Liqiang; Sun, Yingxian

    2015-11-21

    Our latest study reported the grim status of hypertension in rural China with the prevalence of hypertension reached 51.1%. However, we lack the latest data about the prevalence and epidemiological features of dyslipidemia among hypertensive residents in rural China. A cross-sectional survey was conducted from July 2012 to August 2013 through a cluster multistage sampling to a resident group of 4048 individuals (2152 men, 2896 women) with hypertension, age ≥ 35 years, in the rural Northeast China. Serum lipids level were proposed by National Cholesterol Education Program Adult Treatment Panel III. Of the hypertension residents without antihypertension treatment, 34.5% had borderline high total cholesterol, 19.2% had high total cholesterol, 11.4% had low high-density lipoprotein cholesterol and 37.4% had high non HDL-C. The population with borderline high, high, and very high low-density lipoprotein cholesterol was 20.9, 6.7 and 2.3%, respectively. In addition, 14.3% had borderline high triglycerides, 17.4% had high TG and 2.4% had very high TG. The awareness rate of dyslipidemia among the study population was 5.9%. After adjusting for independent variables, fasting plasma glucose, body mass index, Han nationality, current drinking and smoking, higher annual income and classification of blood pressure were risk factors for dyslipidemia while moderate physical activity was protective factor for dyslipidemia. On the contrary, gender and current drinking decrease the risk of HDL-C. The prevalence of dyslipidemia was dramatically high and dyslipidemia screening was in-need in all diagnosed hypertensive individuals.

  17. Vitamin D deficiency and insulin resistance as risk factors for dyslipidemia in obese children.

    Science.gov (United States)

    Erol, Meltem; Bostan Gayret, Özlem; Hamilçıkan, Şahin; Can, Emrah; Yiğit, Özgu L

    2017-04-01

    Dyslipidemia is one of the major complications of obesity; vitamin D deficiency and insulin resistance are attending metabolic complications in dyslipidemic obese children. Objective. To determine if vitamin D deficiency and insulin resistance are risk factors for dyslipidemia in obese children. This study was conducted in the Department of Pediatrics at Bagcilar Training and Research Hospital in Istanbul, Turkey between 2014 and 2015. Obese patients whose age range was 8-14 were included in the study. The serum triglyceride, total cholesterol, low-density lipoprotein cholesterol, highdensity lipoprotein cholesterol, fasting glucose, insulin, alanine aminotransferase, vitamin D levels were measured; a liver ultrasonography was performed. Homeostatic model assessment (HOMA-IR), was used to calculate insulin resistance. 108 obese children were included; 39 (36.11%) had dyslipidemia. The average fasting blood glucose (88.74 ± 7.58 vs. 95.31 ± 6.82; p= 0.0001), insulin level (14.71 ± 12.44 vs. 24.39 ± 15.02; p= 0.0001) and alanine aminotransferase level (23.45 ± 11.18 vs. 30.4 ± 18.95; p= 0.018) were significantly higher in the children with dyslipidemia. In the dyslipidemic obese children, the average hepatosteatosis rate and HOMA-IR level were higher; 28 (71.9%) had hepatosteatosis, 37 (94.87%) had insulin resistance; the vitamin D levels were dyslipidemia. Obese children in our region exhibit low vitamin D and increased HOMA-IR levels, which are efficient risk factors of dyslipidemia.

  18. Estimating the probability of allelic drop-out of STR alleles in forensic genetics

    DEFF Research Database (Denmark)

    Tvedebrink, Torben; Eriksen, Poul Svante; Mogensen, Helle Smidt

    2009-01-01

    In crime cases with available DNA evidence, the amount of DNA is often sparse due to the setting of the crime. In such cases, allelic drop-out of one or more true alleles in STR typing is possible. We present a statistical model for estimating the per locus and overall probability of allelic drop......-out using the results of all STR loci in the case sample as reference. The methodology of logistic regression is appropriate for this analysis, and we demonstrate how to incorporate this in a forensic genetic framework....

  19. Dietary supplementation of germinated pigmented rice (Oryza sativa L. lowers dyslipidemia risk in ovariectomized Sprague–Dawley rats

    Directory of Open Access Journals (Sweden)

    Lara Marie Pangan Lo

    2016-03-01

    Full Text Available Background: In the recent years, cases of elderly women suffering from metabolic diseases such as dyslipidemias brought about by hormonal imbalance after menopause are continuously increasing. In this regard, a continuous and escalating demand to develop a more functional and highly nutritional food product as an adjunct supplement that can help alleviate these diseases is still being sought. Objective: This study investigated the effects of germinated blackish-purple rice cultivars Keunnunjami, Superjami, and reddish-brown cultivar Superhongmi in the lipid metabolism of ovariectomized Sprague–Dawley rats. Method: The animals were randomly divided into nine groups (n=5 and were supplemented with either non-germinated or germinated rice for 9 weeks. Then the plasma, liver, and fat samples were collected for the lipid metabolism effects analyses. Results: Animals fed with germinated rice cultivars had improved lipid profile levels relative to the groups supplemented with non-germinated rice cultivars. The germinated rice groups, Keununjami and Superjami in particular, showed a low total cholesterol levels, high levels of high-density lipoproteins-cholesterol, high fecal lipid output, low hepatic lipid values, and low hepatic adipocyte accumulation. There was also an increase in the rate of lipolysis and decrease in lipogenesis based on the lipid-regulating enzyme activity profiles obtained for the groups that fed on germinated rice. Also, results revealed that pigmented rice cultivars had superior effects in improving the lipid metabolism relative to the non-pigmented normal brown rice variety. Conclusion: Based on the results, this study suggests that germinated pigmented rice consumption can confer better lipid metabolism than ordinary white rice and constitutes as an effective functional food in alleviating the risk of having dyslipidemias like those suffering from menopausal co-morbidities.

  20. The relation of body mass index and abdominal adiposity with dyslipidemia in 27 general populations of the WHO MONICA Project

    DEFF Research Database (Denmark)

    Wietlisbach, V; Marques-Vidal, P; Kuulasmaa, K

    2013-01-01

    BACKGROUND AND AIMS: The association between adiposity measures and dyslipidemia has seldom been assessed in a multipopulational setting. METHODS AND RESULTS: 27 populations from Europe, Australia, New Zealand and Canada (WHO MONICA project) using health surveys conducted between 1990 and 1997...... in adults aged 35-64 years (n = 40,480). Dyslipidemia was defined as the total/HDL cholesterol ratio >6 (men) and >5 (women). Overall prevalence of dyslipidemia was 25% in men and 23% in women. Logistic regression showed that dyslipidemia was strongly associated with body mass index (BMI) in men......, do not lead to optimal risk stratification for dyslipidemia in middle-age adults. Sex-specific adaptations are necessary, in particular by taking into account abdominal obesity in normal-weight men, post-menopausal age in women and regular smoking in both sexes....

  1. Null alleles and sequence variations at primer binding sites of STR loci within multiplex typing systems.

    Science.gov (United States)

    Yao, Yining; Yang, Qinrui; Shao, Chengchen; Liu, Baonian; Zhou, Yuxiang; Xu, Hongmei; Zhou, Yueqin; Tang, Qiqun; Xie, Jianhui

    2018-01-01

    Rare variants are widely observed in human genome and sequence variations at primer binding sites might impair the process of PCR amplification resulting in dropouts of alleles, named as null alleles. In this study, 5 cases from routine paternity testing using PowerPlex ® 21 System for STR genotyping were considered to harbor null alleles at TH01, FGA, D5S818, D8S1179, and D16S539, respectively. The dropout of alleles was confirmed by using alternative commercial kits AGCU Expressmarker 22 PCR amplification kit and AmpFℓSTR ® . Identifiler ® Plus Kit, and sequencing results revealed a single base variation at the primer binding site of each STR locus. Results from the collection of previous reports show that null alleles at D5S818 were frequently observed in population detected by two PowerPlex ® typing systems and null alleles at D19S433 were mostly observed in Japanese population detected by two AmpFℓSTR™ typing systems. Furthermore, the most popular mutation type appeared the transition from C to T with G to A, which might have a potential relationship with DNA methylation. Altogether, these results can provide helpful information in forensic practice to the elimination of genotyping discrepancy and the development of primer sets. Copyright © 2017 Elsevier B.V. All rights reserved.

  2. Prevalence of dyslipidemia in patients with type-2 diabetes mellitus

    Energy Technology Data Exchange (ETDEWEB)

    Siddiqui, S A; Shabbir, I; Sherwani, M U.I.K.; Hussain, R [Fatima Jinnah Medical College, Lahore (Pakistan). Dept. of Research Centre

    2011-01-15

    32.9% cases. The group with high LDL and VLDL is at risk of developing cardiovascular disease. Hypertriglyceridaemia was found in 55% and hypercholesterolaemia in 45.4% cases. Obesity as indicated by body mass index was found in 53.7% patients. Statistically significant association of hypercholesterolemia, hypertriglyceridemia, hypo HDL cholesterolemia and VLDL-C was found with advancing age while only hypertriglyceridemia and VLDL-C showed a positive association with duration of diabetes. A significant association of hyperglycemia (raised HbA1c) was seen with hypertriglyceridemia and high LDL-C along with high body mass index i.e. obesity. Conclusions: Hypertriglyceridemia, high LDL-C and VLDL-C, low HDL-C levels and obesity were the pattern of dyslipidemia found in our diabetic population. (author)

  3. Auto-inhibitory regulation of angiotensin II functionality in hamster aorta during the early phases of dyslipidemia.

    Science.gov (United States)

    Pereira, Priscila Cristina; Pernomian, Larissa; Côco, Hariane; Gomes, Mayara Santos; Franco, João José; Marchi, Kátia Colombo; Hipólito, Ulisses Vilela; Uyemura, Sergio Akira; Tirapelli, Carlos Renato; de Oliveira, Ana Maria

    2016-06-15

    Emerging data point the crosstalk between dyslipidemia and renin-angiotensin system (RAS). Advanced dyslipidemia is described to induce RAS activation in the vasculature. However, the interplay between early dyslipidemia and the RAS remains unexplored. Knowing that hamsters and humans have a similar lipid profile, we investigated the effects of early and advanced dyslipidemia on angiotensin II-induced contraction. Cumulative concentration-response curves for angiotensin II (1.0pmol/l to 1.0µmol/l) were obtained in the hamster thoracic aorta. We also investigated the modulatory action of NAD(P)H oxidase on angiotensin II-induced contraction using ML171 (Nox-1 inhibitor, 0.5µmol/l) and VAS2870 (Nox-4 inhibitor, 5µmol/l). Early dyslipidemia was detected in hamsters treated with a cholesterol-rich diet for 15 days. Early dyslipidemia decreased the contraction induced by angiotensin II and the concentration of Nox-4-derived hydrogen peroxide. Advanced dyslipidemia, observed in hamsters treated with cholesterol-rich diet for 30 days, restored the contractile response induced by angiotensin II by compensatory mechanism that involves Nox-4-mediated oxidative stress. The hyporresponsiveness to angiotensin II may be an auto-inhibitory regulation of the angiotensinergic function during early dyslipidemia in an attempt to reduce the effects of the upregulation of the vascular RAS during the advanced stages of atherogenesis. The recovery of vascular angiotensin II functionality during the advanced phases of dyslipidemia is the result of the upregulation of redox-pro-inflammatory pathway that might be most likely involved in atherogenesis progression rather than in the recovery of vascular function. Taken together, our findings show the early phase of dyslipidemia may be the most favorable moment for effective atheroprotective therapeutic interventions. Copyright © 2016 Elsevier B.V. All rights reserved.

  4. Exploring new alleles for frost tolerance in winter rye.

    Science.gov (United States)

    Erath, Wiltrud; Bauer, Eva; Fowler, D Brian; Gordillo, Andres; Korzun, Viktor; Ponomareva, Mira; Schmidt, Malthe; Schmiedchen, Brigitta; Wilde, Peer; Schön, Chris-Carolin

    2017-10-01

    Rye genetic resources provide a valuable source of new alleles for the improvement of frost tolerance in rye breeding programs. Frost tolerance is a must-have trait for winter cereal production in northern and continental cropping areas. Genetic resources should harbor promising alleles for the improvement of frost tolerance of winter rye elite lines. For frost tolerance breeding, the identification of quantitative trait loci (QTL) and the choice of optimum genome-based selection methods are essential. We identified genomic regions involved in frost tolerance of winter rye by QTL mapping in a biparental population derived from a highly frost tolerant selection from the Canadian cultivar Puma and the European elite line Lo157. Lines per se and their testcrosses were phenotyped in a controlled freeze test and in multi-location field trials in Russia and Canada. Three QTL on chromosomes 4R, 5R, and 7R were consistently detected across environments. The QTL on 5R is congruent with the genomic region harboring the Frost resistance locus 2 (Fr-2) in Triticeae. The Puma allele at the Fr-R2 locus was found to significantly increase frost tolerance. A comparison of predictive ability obtained from the QTL-based model with different whole-genome prediction models revealed that besides a few large, also small QTL effects contribute to the genomic variance of frost tolerance in rye. Genomic prediction models assigning a high weight to the Fr-R2 locus allow increasing the selection intensity for frost tolerance by genome-based pre-selection of promising candidates.

  5. Fine mapping of dominant X-linked incompatibility alleles in Drosophila hybrids.

    Science.gov (United States)

    Matute, Daniel R; Gavin-Smyth, Jackie

    2014-04-01

    Sex chromosomes have a large effect on reproductive isolation and play an important role in hybrid inviability. In Drosophila hybrids, X-linked genes have pronounced deleterious effects on fitness in male hybrids, which have only one X chromosome. Several studies have succeeded at locating and identifying recessive X-linked alleles involved in hybrid inviability. Nonetheless, the density of dominant X-linked alleles involved in interspecific hybrid viability remains largely unknown. In this report, we study the effects of a panel of small fragments of the D. melanogaster X-chromosome carried on the D. melanogaster Y-chromosome in three kinds of hybrid males: D. melanogaster/D. santomea, D. melanogaster/D. simulans and D. melanogaster/D. mauritiana. D. santomea and D. melanogaster diverged over 10 million years ago, while D. simulans (and D. mauritiana) diverged from D. melanogaster over 3 million years ago. We find that the X-chromosome from D. melanogaster carries dominant alleles that are lethal in mel/san, mel/sim, and mel/mau hybrids, and more of these alleles are revealed in the most divergent cross. We then compare these effects on hybrid viability with two D. melanogaster intraspecific crosses. Unlike the interspecific crosses, we found no X-linked alleles that cause lethality in intraspecific crosses. Our results reveal the existence of dominant alleles on the X-chromosome of D. melanogaster which cause lethality in three different interspecific hybrids. These alleles only cause inviability in hybrid males, yet have little effect in hybrid females. This suggests that X-linked elements that cause hybrid inviability in males might not do so in hybrid females due to differing sex chromosome interactions.

  6. [Features of dyslipidemia development and insulin resistance in female workers engaged in methanol and formaldehyde production].

    Science.gov (United States)

    Taranenko, L A

    2013-01-01

    The article covers data on analyzing occupational risk of carbohydrate and lipid metabolism in female workers exosed to methanol and formaldehyde. Findings are that increased contents of the studied chemicals in the air of workplace cause more probable dyslipidemia, insuline resistence in peri-menopausal female workers, these disorders have reliable correlation with occupation.

  7. Atherogenic dyslipidemia and diabetes mellitus: what’s new in the management arena?

    Directory of Open Access Journals (Sweden)

    Ajoy Kumar

    2010-07-01

    Full Text Available Ajoy Kumar1, Vibhuti Singh21Bayfront Family Medicine Residency, St Petersburg FL, USA; 2University of South Florida College of Medicine and Suncoast Cardiovascular Center, St Petersburg, FL, USAAbstract: When compared with the general population, the diabetic population is at higher risk of cardiovascular disease (CVD, as predicted by the Framingham Risk Score calculations (10-year risk 20%. For this reason diabetes is considered a “coronary disease equivalent” condition, as classified by the National Cholesterol Education Program Adult Treatment Panel (NCEP-ATP III. Furthermore, patients with diabetes who experience a myocar­dial infarction have a poorer prognosis than non­diabetic patients, which contributes to their overall higher mortality. Dyslipidemia is a major underlying risk factor contributing to the excess CVD risk, and is usually more atherogenic in the presence of diabetes. It is uniquely manifested by raised levels of triglycer­ides, low levels of high-density lipoprotein cholesterol, and smaller, denser, and more atherogenic low-density lipoprotein particles. Recent trials have suggested the need for more aggressive treatment of dyslipidemia in this subpopulation than the current recommendations by the NCEP-ATP III. This review addresses the newer developments in the diabetes arena in terms of our current understanding of atherogenic dyslipidemia in diabetes and data from the latest randomized trials addressing its management.Keywords: atherogenic dyslipidemia, diabetes mellitus

  8. The impact of stress systems and lifestyle on dyslipidemia and obesity in anxiety and depression

    NARCIS (Netherlands)

    Dortland, Arianne K. B. van Reedt; Vreeburg, Sophie A.; Giltay, Erik J.; Licht, Carmilla M. M.; Vogelzangs, Nicole; van Veen, Tineke; de Geus, Eco J. C.; Penninx, Brenda W. J. H.; Zitman, Frans G.

    Background: Dyslipidemia and obesity have been observed in persons with severe anxiety or depression, and in tricyclic antidepressant (TCA) users. This likely contributes to the higher risk of cardiovascular disease (CVD) in anxiety and depressive disorders. We aimed to elucidate whether biological

  9. Acrolein-Induced Dyslipidemia and Acute Phase Response Independenly of HMG-CoA Reductase

    Science.gov (United States)

    Conklin, Daniel J.; Prough, Russell A.; Juvan, Peter; Rezen, Tadeja; Rozman, Damjana; Haberzettl, Petra; Srivastava, Sanjay; Bhatnagar, Aruni

    2012-01-01

    Scope Aldehydes are ubiquitous natural constituents of foods, water and beverages. Dietary intake represents the greatest source of exposure to acrolein and related aldehydes. Oral acrolein induces dyslipidemia acutely and chronically increases atherosclerosis in mice, yet the mechanisms are unknown. Because lipid synthesis and trafficking are largely under hepatic control, we examined hepatic genes in murine models of acute and chronic oral acrolein exposure. Methods and results Changes in hepatic gene expression were examined using a Steroltalk microarray. Acute acrolein feeding modified plasma and hepatic proteins and increased plasma triglycerides within 15 min. By 6h, acrolein altered hepatic gene expression including Insig1, Insig2 and Hmgcr genes and stimulated an acute phase response (APR) with up-regulation of serum amyloid A genes (Saa) and systemic hypoalbuminemia. To test if decreased HMG-CoA reductase activity could modify acrolein-induced dyslipidemia or the APR, mice were pretreated with simvastatin. Statin treatment, however, did not alter acrolein-induced dyslipidemia or hypoalbuminemia associated with an APR. Few hepatic genes were dysregulated by chronic acrolein feeding in apoE-null mice. These studies confirmed that acute acrolein exposure altered expression of hepatic genes involved with lipid synthesis and trafficking and APR, and thus, indicated a hepatic locus of acrolein-induced dyslipidemia and APR that was independent of HMG CoA-reductase. Conclusion Dietary intake of acrolein could contribute to cardiovascular disease risk by disturbing hepatic function. PMID:21812109

  10. Drugs Involved in Dyslipidemia and Obesity Treatment: Focus on Adipose Tissue

    Directory of Open Access Journals (Sweden)

    Sofia Dias

    2018-01-01

    Full Text Available Metabolic syndrome can be defined as a state of disturbed metabolic homeostasis characterized by visceral obesity, atherogenic dyslipidemia, arterial hypertension, and insulin resistance. The growing prevalence of metabolic syndrome will certainly contribute to the burden of cardiovascular disease. Obesity and dyslipidemia are main features of metabolic syndrome, and both can present with adipose tissue dysfunction, involved in the pathogenic mechanisms underlying this syndrome. We revised the effects, and underlying mechanisms, of the current approved drugs for dyslipidemia and obesity (fibrates, statins, niacin, resins, ezetimibe, and orlistat; sibutramine; and diethylpropion, phentermine/topiramate, bupropion and naltrexone, and liraglutide on adipose tissue. Specifically, we explored how these drugs can modulate the complex pathways involved in metabolism, inflammation, atherogenesis, insulin sensitivity, and adipogenesis. The clinical outcomes of adipose tissue modulation by these drugs, as well as differences of major importance for clinical practice between drugs of the same class, were identified. Whether solutions to these issues will be found in further adjustments and combinations between drugs already in use or necessarily in new advances in pharmacology is not known. To better understand the effect of drugs used in dyslipidemia and obesity on adipose tissue not only is challenging for physicians but could also be the next step to tackle cardiovascular disease.

  11. [Nutritional factors associated with dyslipidemia in users of service in primary health care].

    Science.gov (United States)

    Ferreira, Nathália Luíza; Rodrigues, Maria Tereza; Abreu, Mery Natali; Lopes, Aline Cristine

    2011-12-01

    Dyslipidemias are relevant to public health because are one of the major risk factors for Non-Communicable Diseases and Disorders, especially cardiovascular diseases. Identify factors associated with dyslipidemias on users of Primary Health Care Center. Users were assessed through the nutritional anamnesis (demographic data, consumption of foods and nutrients and morbidity) and anthropometry. Was performed descriptive analysis, t-Student, Chi-Square and Mann Whitney tests (ppercentage of adequacy monounsaturated fatty acids (MUFA) (p=0.007). In contrast, had higher proportion of adequacy of lipid (p=0.017), lower mean weight (p=0.044) and lower inadequate intake of fatty meat (p=0.005). Multivariate analysis showed that insufficient consumption of MUFA (p=0.005) and inadequate intake of lard (p=0.021) were the main variables which influenced the presence of dyslipidemia. The results show that important dietary changes for the prevention and control of dyslipidemia have not been implemented, demonstrating the importance of nutritional interventions aimed at to clarify new dietary strategies, such as reduce consumption of sugar and to maintain an adequate consumption of lipid fractions.

  12. The impact of stress systems and lifestyle on dyslipidemia and obesity in anxiety and depression

    NARCIS (Netherlands)

    van Reedt Dortland, A.K.B.; Vreeburg, S.A.; Giltay, E.J.; Licht, C.M.M.; Vogelzangs, N.; Veen, T.; de Geus, E.J.C.; Penninx, B.W.J.H.; Zitman, F.G.

    2013-01-01

    Background: Dyslipidemia and obesity have been observed in persons with severe anxiety or depression, and in tricyclic antidepressant (TCA) users. This likely contributes to the higher risk of cardiovascular disease (CVD) in anxiety and depressive disorders. We aimed to elucidate whether biological

  13. Different effects of bariatric surgical procedures on dyslipidemia: a registry-based analysis.

    Science.gov (United States)

    Spivak, Hadar; Sakran, Nasser; Dicker, Dror; Rubin, Moshe; Raz, Itamar; Shohat, Tamy; Blumenfeld, Orit

    2017-07-01

    The scale and variables linked to bariatric surgery's effect on dyslipidemia have not been conclusive. To compare the effect of Roux-en-Y gastric bypass (RYGB), sleeve gastrectomy (SG), and adjustable gastric banding (LAGB) on dyslipidemia SETTING: National bariatric surgery registry. Plasma lipids and associated variables were compared at baseline and 1 year (12±4 mo) after surgery for registry patients with dyslipidemia enrolled from June 2013 to August 2014. The greatest mean total-cholesterol (TC) reduction was observed post-RYGB, 226.7±26.4 to 181.3±30.9 mg/dL (19.9%, n = 208), followed by post-SG, 227.9±24.4 to 206.7±34.2 mg/dL (8.9%, n = 1515; Pdyslipidemia, independent of weight loss. Overall, the RYGB achieved the biggest reduction in plasma lipids (TC and LDL), although SG did affect HDL. Our results could aid in the decision-making process regarding the most appropriate procedure for patients with dyslipidemia. Copyright © 2017 American Society for Bariatric Surgery. Published by Elsevier Inc. All rights reserved.

  14. Type 2 diabetes mellitus, hypertension, dyslipidemia and obesity: A systematic comparison of their impact on cognition

    NARCIS (Netherlands)

    van den Berg, Esther; Kloppenborg, Raoul P.; Kessels, Roy P. C.; Kappelle, L. Jaap; Biessels, Geert Jan

    2009-01-01

    Vascular risk factors, such as type 2 diabetes mellitus, hypertension, dyslipidemia and obesity, have been associated with an increased risk of cognitive dysfunction, particularly in the elderly. The aim of this systematic review was to compare these risk factors with regard to the nature and

  15. Effect of the treatment with Euterpe oleracea Mart. oil in rats with Triton-induced dyslipidemia.

    Science.gov (United States)

    E Souza, Belmira S Faria; Carvalho, Helison O; Ferreira, Irlon M; da Cunha, Edilson L; Barros, Albenise Santana; Taglialegna, Talisson; Carvalho, José C T

    2017-06-01

    Dyslipidemias are defined as changes in lipid metabolism that have abnormal concentrations of lipids or lipoproteins in the bloodstream. Chronic increase in triglyceride and low-density lipoprotein (LDL-c) levels are known as risk factors for the atherogenesis process as well as other cardiovascular diseases (CVDs). The magnitude of the problems caused by dyslipidemias impels research by new agents that act in the prevention and control. Thus, products from the Amazonian biodiversity, such as Euterpe oleracea oil (OFEO), rich in unsaturated fatty acids (UFAs), constitutes a study source for the treatment of alterations in lipid metabolism. The present study aims to investigate the effect of OFEO treatment in rats with Triton-induced dyslipidemia (Tyloxapol WR1339). The physicochemical and chromatographic results confirmed the chemical composition of OFEO with a predominance of UFAs (67.83%), with Oleic acid being the majority (54.32%). At Triton-induced dyslipidemia, the animals treated with OFEO and Simvastatin showed a significant reduction in total cholesterol levels, with values ​​of 121.7±29.5 (pdyslipidemia, acting as antihypercholesterolemic and antihypertriglyceridemic, thus possibly contributing as a preventive agent for CVDs. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  16. Cholesterol lipoproteins and prevalence of dyslipidemias in urban Asian Indians: A cross sectional study

    Directory of Open Access Journals (Sweden)

    Soneil Guptha

    2014-05-01

    Conclusions: Mean cholesterol and LDL cholesterol are low and triglycerides were high in urban Asian Indians. Most prevalent dyslipidemias are borderline high LDL, low HDL and high triglycerides. Subjects with high socioeconomic status, high fat intake and greater adiposity have higher total and LDL cholesterol and triglyceride and lower HDL cholesterol.

  17. Determination of allele frequencies in nine short tandem repeat loci ...

    African Journals Online (AJOL)

    SERVER

    2008-04-17

    Apr 17, 2008 ... the normal cellular process of replication of DNA molecules. ... probability of a certain genetic variant (alleles) occuring in ... have preservatives that hinder spoilage and are easily packaged .... Allele distribution at Nine STR.

  18. A new electrophoresis technique to separate microsatellite alleles ...

    African Journals Online (AJOL)

    A new electrophoresis technique to separate microsatellite alleles* ... African Journal of Biotechnology ... with the CEQTM 8000 Genetic Analysis System and ABI 3130xl DNA Sequencer easily separated products and determined allelic size, ...

  19. Allele specific expression and methylation in the bumblebee, Bombus terrestris

    Directory of Open Access Journals (Sweden)

    Zoë Lonsdale

    2017-09-01

    Full Text Available The social hymenoptera are emerging as models for epigenetics. DNA methylation, the addition of a methyl group, is a common epigenetic marker. In mammals and flowering plants methylation affects allele specific expression. There is contradictory evidence for the role of methylation on allele specific expression in social insects. The aim of this paper is to investigate allele specific expression and monoallelic methylation in the bumblebee, Bombus terrestris. We found nineteen genes that were both monoallelically methylated and monoallelically expressed in a single bee. Fourteen of these genes express the hypermethylated allele, while the other five express the hypomethylated allele. We also searched for allele specific expression in twenty-nine published RNA-seq libraries. We found 555 loci with allele-specific expression. We discuss our results with reference to the functional role of methylation in gene expression in insects and in the as yet unquantified role of genetic cis effects in insect allele specific methylation and expression.

  20. Comparative frequency and allelic distribution of ABO and Rh (D ...

    African Journals Online (AJOL)

    Gourab Dewan

    2015-02-18

    Feb 18, 2015 ... desh and having borders with India and Myanmar (Fig. 1). It is a hilly area with ..... calculated allelic frequencies for ABO/Rh systems previously. Therefore, allelic .... in backward caste population of Uttar Pradesh, India. Not Sci.

  1. Association mapping and favourable QTL alleles for fibre quality ...

    Indian Academy of Sciences (India)

    Cheng-Guang Dong

    A total of 201 markers were polymorphic and generated 394 allele loci, and 403 ... identified as containing favourable allele loci related to fibre quality traits. The identified .... environment. Field management followed respective local practices.

  2. Osteosarcopenic obesity and its relationship with dyslipidemia in women from different ethnic groups of China.

    Science.gov (United States)

    Mo, Dan; Hsieh, Peishan; Yu, Hongrong; Zhou, Lining; Gong, Jichun; Xu, Lin; Liu, Peng; Chen, Gang; Chen, Zhao; Deng, Qiongying

    2018-06-09

    To explore the prevalence and ethnic differences of osteosarcopenic obesity (OSO) and dyslipidemia and their relationship among Maonan, Mulam, Hmong, and Yao minorities in China. A total of 2315 Maonan, Mulam, Hmong, and Yao women aged 20-95 from Guangxi were included in this study. Questionnaire survey was carried out and their blood lipids were tested. Body compositions were measured by bioelectrical impedance analysis, and T-score was assessed by ultrasonic examination, respectively. Our study showed ethnic-specific prevalence of OSO. In older women, the incidence rates of OSO in Mulam were 4.9, 12.6, and 11.5% in Maonan, Mulam, and Hmong ethnicity, respectively. In younger group, the incidence rates of OSO were 0.4, 0.4, and 0.6%, respectively. However, there is no prevalence of OSO in Yao women in two groups. The prevalence of dyslipidemia in younger women was 22.86, 29.89, 43.35, and 80.00% in group numbering one, two, and three, respectively. In older women, it was 29.13, 39.02, 41.37, and 52.38%, respectively. Based on logistic regression analysis, after controlling for covariates, dyslipidemia in younger group was positively associated with a higher number of adverse body composition, especially for OSO (OR = 12.53, 95%CI 1.34-116.99). Compared with normal women, OSO women in older group were also more likely to have dyslipidemia (OR = 6.75, 95%CI 3.19-14.31). OSO may be a risk factor for dyslipidemia in the ethnic groups. Thus, efforts to promote healthy aging should be focused on preventing obesity and maintaining bone health and muscle mass.

  3. The proportion of dyslipidemia in systemic lupus erythematosus patient and distribution of correlated factors.

    Science.gov (United States)

    Wijaya, Linda K; Kasjmir, Yoga Iwanoff; Sukmana, Nanang; Subekti, Imam; Prihartono, Joedo

    2005-01-01

    To understand the proportion of dyslipidemia in systemic lupus erythematosus (SLE) patients and the influencing factors of dyslipidemia. AN observational, cross-sectional study was conducted on new and longstanding SLE patients who had been diagnosed based on ARA criteria 1982 with 1997 revision. They had been hospitalized and treated at Department of Internal Medicine, Cipto Mangunkusumo National Central General Hospital and the other private Hospitals in Jakarta, i.e. Kramat Hospital in July - November 2003. The sample was selected by non probability sampling method with consecutive sampling technique. Every participant underwent history taking, physical and laboratory examination. There were 77 patients satisfying the inclusion criteria. The proportion of dyslipidemia in this study was 75.3%. By confidence interval of 95%, the dyslipidemia in SLE patient was 65.3% - 84.6%. The distribution of lipid profile in sample population were 43% with total cholesterol > or = 200 mg/dL, 26% with HDL cholesterol level or = 130 mg/dl and 44.2% with triglycerides serum level > or = 150 mg/dL. The characteristics of influencing factors in dyslipidemia prevalence for sample population consisted of 24.7% with renal involvement, 53.2% with > or = 3 years illness periods, 26% had received > or = 30 mg/day prednisone, 94.8% had not received chloroquines, and 58.4% had illness activity of Mex-SLEDAI > or = 2. By bivariate analysis, we found that illness period dyslipedemia prevalence. Prednisone > or = 30 mg/dL is the correlative factor for total cholesterol > or = 200 mg.dL and triglycerides > or = 150 mg/dL. Mex-SLEDAI > or = 2 is the corrective factor for HDL cholesterol < 40 mg/dL.

  4. Clinical evaluation of Dyslipidemia among type II diabetic patients at Public hospital Penang, Malaysia

    Directory of Open Access Journals (Sweden)

    Zaki Nada F

    2010-11-01

    Full Text Available Abstract Background Global views emphasize the need for early; effective intervention against the atherogenic dyslipidemia associated with type 2 diabetes and metabolic syndrome to reduce the risk of premature cardiovascular diseases. Our aim was to determine the clinical practices and compliance among dyslipidemia with type II diabetes and hypertension in multiracial society. Method(s Study was carried out in out-patient department of General hospital Penang over a period of ten months (Jan - Oct 2008. Study reflects the retrospective data collection covering a period of three years from Jan 2005 - Dec 2007. Universal sampling technique was used to select all the patients' undergone treatment for diabetes type II and dyslipidemia. All the concerned approvals were obtained from Clinical research Committee (CRC. Data was analyzed by using SPSS 15®. Result(s A total of 501 diabetes type 2 patients with dyslipidemia were identified in this study. The demographic data showed that 55.9% (n = 280 were female patients and 44.1% (n = 221 were males. Patients on combination therapy of metformin with other antidiabetic agent were 79%, while 21% were on monotherapy. Lovastatin was received as monotherapy in 83% of study population, while only 17% were on combination with gemfibrozil. Means of FPG and lipid profile were reduced from the initial (2005 to the latest level (2007 significantly (p Conclusion Metformin and lovastatin use among patients of type 2 diabetes and dyslipidemia is significantly improved the clinical outcomes. No significant association of metformin or lovastatin is found against the hypertension. Metformin and calcium channel blocker combination therapy was found to be the best choice in the co-treatment of diabetes and hypertension.

  5. [A 6-year evaluation of dyslipidemia in a health center: Importance of improvement actions].

    Science.gov (United States)

    Antón-García, F; Correcher-Salvador, E; Rodríguez-Lagos, F A; González-Caminero, S

    2014-01-01

    Dyslipidemia, especially an increased LDL-cholesterol, has been shown to be one of the most important risk factors in the genesis of coronary involvement. The prevalence of dyslipidemias in Spain is high. The objective of this study is to assess the progress of dyslipidemic patients in our health center over a 6-year period, and see if there has been any improvement in its control after the presentation of the evaluation of the first 3 years, as well as an updated dyslipidemia protocol. Assessment Period 1 (2006-2008): 267 patients with dyslipidemia. Assessment Period 2 (2009-2011): 222 patients, excluding exitus and address changes. age, sex, personal history of CVD, vascular risk factors, lipids, drug treatment, risk levels, and percentages of CV control objectives. Mean age was 66.2 years (SD 13.4), 66.3% women. Period 1-Period 2: Total cholesterol: 221.9-196.6 mg/dl (P=.000); LDL-cholesterol: 147.9-115.8 mg/dl (P=.000). In high risk patients, therapeutic targets: 14-50.5% (P=.024); medium risk: 35-68.1% (P=.038); low risk: 44-68.2% (P=NS). Pharmacotherapy 68-77% (P=.000). Changing treatment: 30-43% (P=.001). Adherence: 75-86% (P=.003). Untreated high risk: 15.4-16.3% (P=NS). There was a significant improvement in Period 2, especially in high-risk patients, after presenting the results of the evaluation for Period 1 and with the updated dyslipidemia protocol. There are high risk patients without lipid-lowering treatment to be detected and reviewed. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  6. Thyroid hormone analogs for the treatment of dyslipidemia: past, present, and future.

    Science.gov (United States)

    Delitala, Alessandro P; Delitala, Giuseppe; Sioni, Paolo; Fanciulli, Giuseppe

    2017-11-01

    Treatment of dyslipidemia is a major burden for public health. Thyroid hormone regulates lipid metabolism by binding the thyroid hormone receptor (TR), but the use of thyroid hormone to treat dyslipidemia is not indicated due to its deleterious effects on heart, bone, and muscle. Thyroid hormone analogs have been conceived to selectively activate TR in the liver, thus reducing potential side-effects. The authors searched the PubMed database to review TR and the action of thyromimetics in vitro and in animal models. Then, all double-blind, placebo controlled trials that analyzed the use of thyroid hormone analog for the treatment of dyslipidemia in humans were included. Finally, the ongoing research on the use of TR agonists was searched, searching the US National Institutes of Health Registry and the WHO International Clinical Trial Registry Platform (ICTRP). Thyromimetics were tested in humans for the treatment of dyslipidemia, as a single therapeutic agent or as an add-on therapy to the traditional lipid-lowering drugs. In most trials, thyromimetics lowered total cholesterol, low-density lipoprotein cholesterol, and triglycerides, but their use has been associated with adverse side-effects, both in pre-clinical studies and in humans. The use of thyromimetics for the treatment of dyslipidemia is not presently recommended. Future possible clinical applications might include their use to promote weight reduction. Thyromimetics might also represent an interesting alternative, both for the treatment of non-alcoholic steatohepatitis, and type 2 diabetes due to their positive effects on insulin sensitivity. Finally, additional experimental and clinical studies are needed for a better comprehension of the effect(s) of a long-term therapy.

  7. Prevalence of dyslipidemia and its control in type 2 diabetes: A multicenter study in endocrinology clinics of China.

    Science.gov (United States)

    Yan, Li; Xu, Ming Tong; Yuan, Li; Chen, Bing; Xu, Zhang Rong; Guo, Qing Hua; Li, Qiang; Duan, Yu; Huang Fu, Jian; Wang, Yong Jian; Zhang, Miao; Luo, Zuo Jie; Zhao, Wei Gang; Wang, You Min; Yuan, Zhen Fang; Wang, Wei Qing; Wang, Peng Hua; Ran, Xing Wu; Wang, Yan Jun; Yang, Hua Zhang; Gao, Ling; Chen, Wei Qing; Ning, Guang

    2016-01-01

    The aim of this study was to assess the levels of serum lipid and awareness, treatment, and control of dyslipidemia in type 2 diabetes mellitus (T2DM) patients from top-ranked endocrinology clinics in large cities of China. A cross-sectional study in a representative sample of 4807 Chinese adults 40 to 75 years of age was conducted during 2010 to 2011 at 20 endocrinology clinics in top-ranked hospitals covering most of the major cities of China. Serum lipid levels were measured, and treatment of dyslipidemia was recorded and assessed. In the present study, the prevalence of dyslipidemia was 67.1% in T2DM subjects. Among those with dyslipidemia, the proportion of awareness and treatment was 68.7% and 55.9%. Among participants with lipid-lowering therapy, 686 subjects achieved the low-density lipoprotein cholesterol (LDL-C) control less than 2.60 mmol/L, with the rate being 39.4%. In those patients with previous cardiovascular disease, the percentage of participants who achieved LDL-C goal (1.80 mmol/L) was 15.3%. The prevalence of dyslipidemia is high, and the awareness, treatment, and control of dyslipidemia are relatively low in Chinese T2DM patients. This calls for the awareness and intervention of dyslipidemia in these patients. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  8. Allele and genotype frequencies of -β lactoglobulin gene in Iranian ...

    African Journals Online (AJOL)

    STORAGESEVER

    2009-08-04

    Aug 4, 2009 ... Blood samples were supplied from 80 Najdi cattle and 80 buffalo from different cities of Khouzestan province. ... The allele B of β-Lactoglobulin occurred at a higher frequency than the allele A in both. Najdi cattle and buffalo. .... that of the B allele in both groups of animals studied. Expected heterozygosity ...

  9. Directional Positive Selection on an Allele of Arbitrary Dominance

    OpenAIRE

    Teshima, Kosuke M.; Przeworski, Molly

    2006-01-01

    Most models of positive directional selection assume codominance of the beneficial allele. We examine the importance of this assumption by implementing a coalescent model of positive directional selection with arbitrary dominance. We find that, for a given mean fixation time, a beneficial allele has a much weaker effect on diversity at linked neutral sites when the allele is recessive.

  10. Dyslipidemia in people living with HIV-AIDS in a tertiary hospital in South-East Nigeria.

    Science.gov (United States)

    Anyabolu, Ernest Ndukaife

    2017-01-01

    Across the globe, human immunodeficiency virus (HIV) infection is a healthcare problem. Dyslipidemia, a cardiovascular risk factor, is known to occur with the progression of HIV infection. The factors which influence dyslipidemia in HIV subjects have not been completely identified. The aim of this study was to evaluate serum lipids and identify the factors which might influence dyslipidemia in treatment-naïve HIV subjects in Owerri, Nigeria. This was a cross-sectional study of treatment-naïve HIV subjects. Anthropometric and demographic data were collected. Serum LDL serum cholesterol, serum high density lipoprotein cholesterol, serum triglyceride, spot urine creatinine, spot urine osmolality, spot urine protein, serum creatinine, 24-hour urine protein, 24-hour urine osmolality, 24-hour urine creatinine, creatinine clearance and hemoglobin were conducted. The variables were compared between those who have dyslipidemia and those who have no dyslipidemia. The mean age of the subjects was 39 ± 11 years. Females constituted 72.0% and males 28.0%. Elevated serum LDL was present in 17.6%, elevated serum total cholesterol in 11.4%, elevated serum triglyceride in 9.9% and low serum HDL in 34.4% of the subjects. There was significant association between dyslipidemia and CD4 cells count, as well as anemia. There was no significant association between dyslipidemia and urine protein, urine creatinine, urine osmolality, creatinine clearance, as well as 24-hour urine volume. The prevalence of dyslipidemia was high in the study subjects. Abnormal CD4 cells count and anemia were common in treatment-naïve HIV subjects who have dyslipidemia.

  11. Marker-Assisted Selection for Recognizing Wheat Mutant Genotypes Carrying HMW Glutenin Alleles Related to Baking Quality

    OpenAIRE

    Zamani, Mohammad Javad; Bihamta, Mohammad Reza; Naserian Khiabani, Behnam; Tahernezhad, Zahra; Hallajian, Mohammad Taher; Shamsi, Marzieh Varasteh

    2014-01-01

    Allelic diversity of HMW glutenin loci in several studies revealed that allelic combinations affect dough quality. Dx5 + Dy10 subunits are related to good baking quality and Dx2 + Dy12 are related to undesirable baking quality. One of the most regular methods to evaluate the baking quality is SDS-PAGE which is used to improve baking quality labs. Marker-assisted selection is the method which can recognize the alleles related to baking quality and this method is based on polymerase chain reac...

  12. [Prevalence and risk factors of dyslipidemia in a rural population of Henan Province, China].

    Science.gov (United States)

    Zhou, J M; Luo, X P; Wang, S; Yin, L; Pang, C; Wang, G A; Shen, Y X; Wu, D T; Zhang, L; Ren, Y C; Wang, B Y; Yang, X Y; Zhang, H Y; Han, C Y; Zhao, Y; Li, L L; Wang, C J; Feng, T P; Zhao, J Z; Hu, D S; Zhang, M

    2016-09-06

    Objective: The purpose of this study was to investigate the prevalence and risk factors of dyslipidemia in a rural population of Henan Province, China. Methods: A total of 20 194 participants aged ≥18 years were selected randomly by cluster sampling from two townships(towns)in Henan Province from July to August 2007 and July to August 2008. Investigations included questionnaires, anthropometric measurements, fasting plasma glucose, and lipid profile examination at baseline. A total of 16 155 participants were followed up from July to August 2013 and July to October 2014. Overall, 13 869 participants were included in the study, after excluding 2 286 participants with incomplete dyslipidemia follow-up data. Distributions of the characteristics of dyslipidemia were determined, and prevalence was standardized by age according to data of the 2010 Sixth National Population Census. Risk factors for dyslipidemia were analyzed using a logistic regression model after adjusting for sex, age, education level, marital status, and income status. Results: The prevalence of dyslipidemia was 53.72%(7 450/13 869)for residents aged ≥22 years living in rural areas of Henan Province(59.32%(3 069/5 174)for men and 50.39%(4 381/8 695)for women). The adjusted prevalence of dyslipidemia was 50.50%(59.27% for men and 45.53% for women). The prevalence of hypercholesterolemia, hypertriglyceridemia, low HDL-C, and high LDL-C was 4.34%(602/13 868), 20.42%(2 826/13 837), 42.75%(5 927/13 865), and 3.14%(420/13 375), respectively, and the adjusted prevalence was 2.44%, 18.84%, 41.42%, and 1.86%, respectively. Logistic regression analyses showed that alcohol consumption( OR =1.27, 95% CI : 1.05-1.53), family history of hyperlipidemia( OR =1.29, 95% CI : 1.17-1.43), overweight( OR =1.40, 95% CI : 1.22-1.61), obesity( OR = 1.65, 95% CI : 1.39- 1.96), abnormal waist circumference( OR =1.22, 95% CI : 1.04- 1.43), and abnormal waist-height ratio( OR =1.21, 95% CI : 1.01-1.45)were significant

  13. Allelic Variation of Cytochrome P450s Drives Resistance to Bednet Insecticides in a Major Malaria Vector.

    Science.gov (United States)

    Ibrahim, Sulaiman S; Riveron, Jacob M; Bibby, Jaclyn; Irving, Helen; Yunta, Cristina; Paine, Mark J I; Wondji, Charles S

    2015-10-01

    Scale up of Long Lasting Insecticide Nets (LLINs) has massively contributed to reduce malaria mortality across Africa. However, resistance to pyrethroid insecticides in malaria vectors threatens its continued effectiveness. Deciphering the detailed molecular basis of such resistance and designing diagnostic tools is critical to implement suitable resistance management strategies. Here, we demonstrated that allelic variation in two cytochrome P450 genes is the most important driver of pyrethroid resistance in the major African malaria vector Anopheles funestus and detected key mutations controlling this resistance. An Africa-wide polymorphism analysis of the duplicated genes CYP6P9a and CYP6P9b revealed that both genes are directionally selected with alleles segregating according to resistance phenotypes. Modelling and docking simulations predicted that resistant alleles were better metabolizers of pyrethroids than susceptible alleles. Metabolism assays performed with recombinant enzymes of various alleles confirmed that alleles from resistant mosquitoes had significantly higher activities toward pyrethroids. Additionally, transgenic expression in Drosophila showed that flies expressing resistant alleles of both genes were significantly more resistant to pyrethroids compared with those expressing the susceptible alleles, indicating that allelic variation is the key resistance mechanism. Furthermore, site-directed mutagenesis and functional analyses demonstrated that three amino acid changes (Val109Ile, Asp335Glu and Asn384Ser) from the resistant allele of CYP6P9b were key pyrethroid resistance mutations inducing high metabolic efficiency. The detection of these first DNA markers of metabolic resistance to pyrethroids allows the design of DNA-based diagnostic tools to detect and track resistance associated with bednets scale up, which will improve the design of evidence-based resistance management strategies.

  14. Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.

    Science.gov (United States)

    Schindler, Emily I; Nylen, Erik L; Ko, Audrey C; Affatigato, Louisa M; Heggen, Andrew C; Wang, Kai; Sheffield, Val C; Stone, Edwin M

    2010-10-01

    Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribution of individual alleles because relatively few affected individuals share the same two disease-causing variations. In this study, we used multiple regression analysis to estimate the pathogenicity of specific alleles of ABCA4 in patients with retinal phenotypes ranging from Stargardt disease to retinitis pigmentosa. This analysis revealed quantitative allelic effects on two aspects of the visual phenotype, visual acuity (P disease and will also aid in the optimal selection of subjects for clinical trials of new therapies.

  15. Dislipidemias e antipsicóticos atípicos Dyslipidemias and atypical antipsychotics

    Directory of Open Access Journals (Sweden)

    Edilberto Amorim de Cerqueira Filho

    2006-01-01

    Full Text Available OBJETIVO: Um progressivo número de evidências surge associando o uso de antipsicóticos atípicos a dislipidemias, situação pouco atentada por considerável número de psiquiatras e preditora importante de doenças cardiovasculares (DCVs e de morbimortalidade. O propósito deste estudo é revisar a associação entre o uso de antipsicóticos atípicos e o desenvolvimento de dislipidemias em pacientes com esquizofrenia. MÉTODOS: A pesquisa bibliográfica utilizou os bancos de dados MEDLINE e Scientific Electronic Library Online (SciELO, com os descritores: schizophrenia, dyslipidemia, hyperlipidemia e lipids, para identificar artigos originais publicados no período de 1997 a setembro de 2006. RESULTADOS: Os artigos foram agrupados segundo cada agente terapêutico, de acordo com o seu impacto sobre o perfil lipídico. CONCLUSÃO: Observa-se maior risco de desenvolvimento de dislipidemias em pacientes com esquizofrenia em uso de alguns antipsicóticos atípicos. Intervenções comportamentais e farmacológicas devem ser associadas nos indivíduos com esquizofrenia em tratamento antipsicótico e que desenvolvem dislipidemias.OBJECTIVE: Pieces of evidence appear associating the use of atypical antipsychotics to dyslipidemias, situation that is of little attention by considerable number of psychiatrists and important predictor of cardiovascular illnesses and morbi-mortality. The intention of this study is to review the association between the atypical antipsychotic use and the development of dyslipidemias in patients with schizophrenia. METHODS: The bibliographical research used databases MEDLINE and SciELO, for the key words: schizophrenia, dyslipidemia, hyperlipidemia and lipids, with the objective to identify original articles published in the period of 1997 to September 2006. RESULTS: The articles were distributed according to each therapeutic agent and their impact on lipidic profile. CONCLUSION: Higher risk of development of dyslipidemias

  16. Self-incompatibility of Prunus tenella and evidence that reproductively isolated species of Prunus have different SFB alleles coupled with an identical S-RNase allele.

    Science.gov (United States)

    Surbanovski, Nada; Tobutt, Kenneth R; Konstantinović, Miroslav; Maksimović, Vesna; Sargent, Daniel J; Stevanović, Vladimir; Bosković, Radovan I

    2007-05-01

    Many species of Prunus display an S-RNase-based gametophytic self-incompatibility (SI), controlled by a single highly polymorphic multigene complex termed the S-locus. This comprises tightly linked stylar- and pollen-expressed genes that determine the specificity of the SI response. We investigated SI of Prunus tenella, a wild species found in small, isolated populations on the Balkan peninsula, initially by pollination experiments and identifying stylar-expressed RNase alleles. Nine P. tenella S-RNase alleles (S(1)-S(9)) were cloned; their sequence analysis showed a very high ratio of non-synonymous to synonymous nucleotide substitutions (K(a)/K(s)) and revealed that S-RNase alleles of P. tenella, unlike those of Prunus dulcis, show positive selection in all regions except the conserved regions and that between C2 and RHV. Remarkably, S(8)-RNase, was found to be identical to S(1)-RNase from Prunus avium, a species that does not interbreed with P. tenella and, except for just one amino acid, to S(11) of P. dulcis. However, the corresponding introns and S-RNase-SFB intergenic regions showed considerable differences. Moreover, protein sequences of the pollen-expressed SFB alleles were not identical, harbouring 12 amino-acid replacements between those of P. tenella SFB(8) and P. avium SFB(1). Implications of this finding for hypotheses about the evolution of new S-specificities are discussed.

  17. DQB1*06:02 allele-specific expression varies by allelic dosage, not narcolepsy status

    DEFF Research Database (Denmark)

    Weiner Lachmi, Karin; Lin, Ling; Kornum, Birgitte Rahbek

    2012-01-01

    The association of narcolepsy-cataplexy, a sleep disorder caused by the loss of hypocretin/orexin neurons in the hypothalamus, with DQA1*01:02-DQB1*06:02 is one of the tightest known single-allele human leukocyte antigen (HLA) associations. In this study, we explored genome-wide expression...

  18. Dietary determinants of subclinical inflammation, dyslipidemia and components of the metabolic syndrome in overweight children: a review

    NARCIS (Netherlands)

    Zimmermann, M.B.; Aeberli, I.

    2008-01-01

    Objective: To review and summarize the dietary determinants of the metabolic syndrome, subclinical inflammation and dyslipidemia in overweight children. Design: Review of the current literature, focusing on pediatric studies. Participants: Normal weight, overweight, or obese children and

  19. The prevalence, awareness, treatment, and control of dyslipidemia in northeast China: a population-based cross-sectional survey.

    Science.gov (United States)

    Zhang, Fu-Liang; Xing, Ying-Qi; Wu, Yan-Hua; Liu, Hao-Yuan; Luo, Yun; Sun, Ming-Shuo; Guo, Zhen-Ni; Yang, Yi

    2017-03-23

    Dyslipidemia is an important independent modifiable risk factor for cardiovascular disease. The aim of this study was to explore the current prevalence, awareness, treatment and control of dyslipidemia and its associated influence factors in northeast China. In this population-based cross-sectional study, we adopted a multi-stage, stratified sampling method to obtain a representative sample of 4052 permanent residents aged 40 years and over from different urban and rural regions in Dehui City of Jilin Province. All subjects completed a questionnaire and were examined for risk factors. Continuous data were presented as means ± standard deviations (SD) and compared using the Student's t-test. Categorical variables were presented as proportions and compared using the Rao-Scott-χ 2 test in different subgroups. The associated influence factors for the prevalence, awareness, treatment and control of dyslipidemia were evaluated through multivariate logistic regression. The prevalence of dyslipidemia was 62.1% overall, with 33.5, 43.9, 0.6, and 8.8% for high total cholesterol, triglyceride, low-density lipoprotein cholesterol, and low high-density lipoprotein cholesterol, respectively. Among those with dyslipidemia, the proportion of subjects who were aware, treated, and controlled was 14.4, 33.9, and 19.9%, respectively. Overweight or obesity (OR = 2.156; 95% CI: 1.863, 2.533), hypertension (OR = 1.643; 95% CI: 1.425, 1.893), or diabetes mellitus (OR = 2.173; 95% CI: 1.661, 2.844) increased the prevalence of dyslipidemia, also these participants were more likely to be aware of their condition, however, this did not increase the likelihood of treatment and control. Living in urban areas and higher education level also increased the awareness of dyslipidemia. Personal history of coronary heart disease was the strongest influence factors associated with better awareness, treatment and control of dyslipidemia. Overweight or obesity (OR = 0.404; 95% CI

  20. Clinical Perspectives of Genetic Analyses on Dyslipidemia and Coronary Artery Disease

    Science.gov (United States)

    Kawashiri, Masa-aki; Yamagishi, Masakazu

    2017-01-01

    We have learned that low-density lipoprotein (LDL) cholesterol is the cause of atherosclerosis from various aspects, including a single case with familial hypercholesterolemia, other cases with different types of Mendelian dyslipidemias, large-scale randomized controlled trials using LDL cholesterol lowering therapies, and Mendelian randomization studies using common as well as rare variants associated with LDL cholesterol levels. There is no doubt that determinations of genotypes in lipid-associated genes have contributed not only to the genetic diagnosis for Mendelian dyslipidemias but also to the discoveries of novel therapeutic targets. Furthermore, recent studies have shown that such genetic information could provide useful clues for the risk prediction as well as risk stratification in general and in particular population. We provide the current understanding of genetic analyses relating to plasma lipids and coronary artery disease. PMID:28250266

  1. Identification, genealogical structure and population genetics of S-alleles in Malus sieversii, the wild ancestor of domesticated apple.

    Science.gov (United States)

    Ma, X; Cai, Z; Liu, W; Ge, S; Tang, L

    2017-09-01

    The self-incompatibility (SI) gene that is specifically expressed in pistils encodes the SI-associated ribonuclease (S-RNase), functioning as the female-specificity determinant of a gametophytic SI system. Despite extensive surveys in Malus domestica, the S-alleles have not been fully investigated for Malus sieversii, the primary wild ancestor of the domesticated apple. Here we screened the M. sieversii S-alleles via PCR amplification and sequencing, and identified 14 distinct alleles in this species. By contrast, nearly 40 are present in its close wild relative, Malus sylvestris. We further sequenced 8 nuclear genes to provide a neutral reference, and investigated the evolution of S-alleles via genealogical and population genetic analyses. Both shared ancestral polymorphism and an excess of non-synonymous substitution were detected in the S-RNases of the tribe Maleae in Rosaceae, indicating the action of long-term balancing selection. Approximate Bayesian Computations based on the reference neutral loci revealed a severe bottleneck in four of the six studied M. sieversii populations, suggesting that the low number of S-alleles found in this species is mainly the result of diversity loss due to a drastic population contraction. Such a bottleneck may lead to ambiguous footprints of ongoing balancing selection detected at the S-locus. This study not only elucidates the constituents and number of S-alleles in M. sieversii but also illustrates the potential utility of S-allele number shifts in demographic inference for self-incompatible plant species.

  2. Prevalence of dyslipidemia in normoglycemic subjects with newly diagnosed high blood pressure in Abuja, Nigeria.

    Science.gov (United States)

    Ojji, Dike B; Ajayi, Samuel O; Mamven, Manmak H; Atherton, John

    2009-02-01

    High blood pressure and dyslipidemia additively increases the risk of cardiovascular disease. There is a high prevalence of high blood pressure in Nigeria, but there are little data regarding the prevalence of dyslipidemia in subjects with high blood pressure. In this observational prospective study, we examined the prevalence of dyslipidemia in newly diagnosed normoglycemic subjects with high blood pressure. A total of 171 subjects presenting with high blood pressure for the first time in the cardiology and nephrology clinics at the University of Abuja Teaching Hospital were studied. Height, weight, and blood pressure were measured. Total cholesterol, low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) were determined in fasting plasma. The total cholesterol/HDL-C and non-HDL-C values were calculated. These measures were then classified according to the 2001 report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults. Of the 171 subjects studied, 84 (49%) were male and 87 (51%) were female. Low HDL-C was present in 71 (45.8%), elevated LDL-C in 29 (17%), elevated total cholesterol in 19 (11.1%), and elevated triglyceride in 13 (7.6%), whereas eight (4.7%) of the study population had combined elevated total cholesterol and triglyceride. Female subjects had higher total cholesterol and lower HDL-C than male subjects, but these differences were not statistically significant. Obese subjects, compared to the nonobese, had significantly higher LDL-C and total cholesterol/HDL-C ratios in males and significantly higher triglyceride levels in females. Given the prevalence of dyslipidemia seen in this study, we suggest that fasting lipid measurements should be performed in all Nigerians with high blood pressure. These data suggest the need for health education and lifestyle modifications in hypertensive Nigerians to reduce both types of risk

  3. Prevalence of dyslipidemia in Iranian children and adolescents: A systematic review

    Directory of Open Access Journals (Sweden)

    Silva Hovsepian

    2015-01-01

    Full Text Available Background: Dyslipidemia is considered as an important modifiable risk factor for cardiovascular disease (CVD. The link between childhood dyslipidemia and occurrence of atherosclerosis and its sequels in adulthood are well-documented. This study aimed to systematically review the prevalence of dyslipidemia among Iranian children and adolescents. Materials and Methods: An electronic search was conducted on studies published from January 1990 to January 2014. The main international electronic data sources were PubMed and the NLM Gateway (for MEDLINE, Institute of Scientific Information (ISI, and SCOPUS. For Persian databases, we used domestic databases with systematic search capability including IranMedex, Irandoc, and Scientific Information Database (SID. We included all available population-based studies and national surveys conducted in the pediatric age group (aged <21 years. Results: In this review, 1772 articles were identified (PubMed: 1464; Scopus: 11; ISI: 58; SID: 90; IranMedex: 149; Irandoc: 57. During three refine steps and after removing of duplicates, 182 articles related to the study domain were selected. After quality assessment, 46 studies were selected for text appraisal, of which 26 qualified articles were evaluated at the final step. The prevalence range of hypercholesterolemia, hypertriglyceridemia, elevated low-density lipoprotein cholesterol, and low high-density lipoprotein cholesterol (HDL-C were 3-48%, 3-50%, 5-20% and 5-88%, respectively. Low HDL-C and hypertriglyceridemia were the most prevalent lipid disorders in this group of population. Conclusion: Dyslipidemia is a common health problem among Iranian children and adolescents. Few data were available in preschool children. This finding provides useful information for health policy makers to implement action-oriented interventions for prevention and early control of this important CVD risk factor.

  4. Pathophysiology of Adipocyte Defects and Dyslipidemia in HIV Lipodystrophy: New Evidence from Metabolic and Molecular Studies

    OpenAIRE

    Ashok Balasubramanyam; Rajagopal V. Sekhar; Farook Jahoor; Henry J. Pownall; Dorothy Lewis

    2006-01-01

    Despite a burgeoning mass of descriptive information regarding the epidemiology, clinical features, body composition changes, hormonal alterations and dyslipidemic patterns in patients with HIV lipodystrophy syndrome (HLS), the specific biochemical pathways that are dysregulated in the condition and the molecular mechanisms that lead to their dysfunction, remain relatively unexplored. In this paper, we review studies that detail the metabolic basis of the dyslipidemia - specifically, the hype...

  5. Atherogenic Dyslipidemia and Residual Vascular Risk in Practice of Family Doctor

    OpenAIRE

    Alibasic, Esad; Ramic, Enisa; Bajraktarevic, Amila; Ljuca, Farid; Batic-Mujanovic, Olivera; Zildzic, Muharem

    2015-01-01

    Objective: Timely recognition and optimal management of atherogenic dyslipidemia (AD) and residual vascular risk (RVR) in family medicine. Background: The global increase of the incidence of obesity is accompanied by an increase in the incidence of many metabolic and lipoprotein disorders, in particular AD, as an typical feature of obesity, metabolic syndrome, insulin resistance and diabetes type 2. AD is an important factor in cardio metabolic risk, and is characterized by a lipoprotein prof...

  6. Obesity and dyslipidemia in patients with psoriasis treated at a dermatologic clinic in Manaus*

    Science.gov (United States)

    Santos, Mônica; Fonseca, Hannah Monteiro; Jalkh, Alex Panizza; Gomes, Gabriela Piraice; Cavalcante, Andrea de Souza

    2013-01-01

    BACKGROUND Psoriasis is a chronic inflammatory disease of multifactorial etiology, with participation of genetic, autoimmune and environmental factors. Recent studies have demonstrated the role of inflammatory cells and mediators in the pathogenesis of psoriasis, which is now defined as a systemic and autoimmune inflammatory disease that may be associated with other diseases of inflammatory nature. OBJECTIVES To evaluate the occurrence of obesity and dyslipidemia in patients with psoriasis treated at a dermatology clinic in Manaus. METHODS We performed a prospective descriptive study to assess the prevalence of obesity and dyslipidemia in patients with psoriasis. Besides the recommended dermatological care, a physical examination was performed to measure weight, height and waist circumference. RESULTS We included 72 patients, 44 (61.1%) female and 28 (38.9%) male, with a mean age of 51.0 years ± 15.9 years. As for body mass index (BMI), 16 (22.2%) were overweight and 20 (27.8%) were obese. In the analysis of waist circumference in relation to gender, we found that 79.5% of women surveyed had central obesity, a percentage statistically higher than that observed among men (42.9%) at the 5% level of significance (p = 0.001). Regarding the diagnosis of dyslipidemia, 29 (65.9%) females and 22 (78.6%) males showed alterations in lipid profile. CONCLUSIONS The occurrence of dyslipidemia and obesity in patients with psoriasis can affect life quality and expectancy, increasing the risk of systemic and metabolic diseases, which makes periodic investigation of these comorbidities in patients with psoriasis mandatory. PMID:24474099

  7. Correlation between Traditional Chinese Medicine Constitution and Dyslipidemia: A Systematic Review and Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Ye-lin Ma

    2017-01-01

    Full Text Available Objective. To study the correlation between Traditional Chinese Medicine (TCM constitution and dyslipidemia. Methods. CNKI, VIP, Wanfang database, CBMdisc, PubMed, and Embase were searched, and meta-analysis was performed by Review Manager 5.2 software. Results. Altogether 11 studies were included with 12890 individuals. The results showed that balanced constitution was a protective factor of dyslipidemia (OR = 0.62, 95% CI 0.47~0.82 while phlegm-dampness constitution was a risk factor of it (OR = 2.50, 95% CI 2.22~2.80, and the effect of phlegm-dampness constitution in South China (OR = 3.31, 95% CI 1.71~6.43 was more obvious than that in East (OR = 2.40, 95% CI 2.06~2.80 and North China (OR = 2.24, 95% CI 1.81~2.78. Conclusion. This study provides evidence for the prevention and treatment of dyslipidemia in TCM. However, most of the studies included are of moderate quality; more high quality, multicenter, large-sample studies are expected to provide higher level evidence.

  8. Effect of Abdominoplasty in the Lipid Profile of Patients with Dyslipidemia

    Directory of Open Access Journals (Sweden)

    Guillermo Ramos-Gallardo

    2013-01-01

    Full Text Available Introduction. Dyslipidemia like other chronic degenerative diseases is pandemic in Latin America and around the world. A lot of patients asking for body contouring surgery can be sick without knowing it. Objective. Observe the lipid profile of patients with dyslipidemia, before and three months after an abdominoplasty. Methods. Patients candidate to an abdominoplasty without morbid obesity were followed before and three months after the surgery. We compared the lipid profile, glucose, insulin, and HOMA (cardiovascular risk marker before and three months after the surgery. We used Student's t test to compare the results. A P value less than 0.05 was considered as significant. Results. Twenty-six patients were observed before and after the surgery. At the third month, we found only statistical differences in LDL and triglyceride values (P 0.04 and P 0.03. The rest of metabolic values did not reach statistical significance. Conclusion. In this group of patients with dyslipidemia, at the third month, only LDL and triglyceride values reached statistical significances. There is no significant change in glucose, insulin, HOMA, cholesterol, VLDL, or HDL.

  9. Risk factors associated with atherogenic dyslipidemia in the presence of optimal statin therapy.

    Science.gov (United States)

    Zhao, Wang; Zheng, Xi-Long; Jiang, Ze-Nan; Liao, Xiao-Bo; Zhao, Shui-Ping

    2017-12-01

    This study investigated the prevalence of atherogenic dyslipidemia (AD) in Chinese outpatients whose low-density lipoprotein cholesterol (LDL-C) levels reached the goals with statin monotherapy and evaluated the characteristics of these patients. An analysis of the Dyslipidemia International Survey-China study that was carried out at 122 hospitals in China. Among patients reaching their LDL-C goals, the presence of AD was defined as triglyceride levels ≥1.7mmol/L and/or low levels of high-density lipoprotein cholesterol (men: dyslipidemia, 13,551 patients reached LDL-C goals, and 7719 patients of them had AD. Age, male gender, BMI, sedentary lifestyle, coronary heart disease, serum uric acid levels, and fasting plasma glucose (all P<0.05) were independently associated with AD. The intensity of statin therapy did not affect the prevalence of AD. There was a high prevalence of AD in Chinese patients with optimal statin treatment. Some risk factors associated with AD were identified, but these factors were slightly different according to two criteria/guidelines. The intensity of statin therapy did not reduce the prevalence of AD. A combination lipid therapy may be more suitable for Chinese patients. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

  10. Screening for Dyslipidemia in Younger Adults: A Systematic Review for the U.S. Preventive Services Task Force.

    Science.gov (United States)

    Chou, Roger; Dana, Tracy; Blazina, Ian; Daeges, Monica; Bougatsos, Christina; Jeanne, Thomas L

    2016-10-18

    Dyslipidemia may occur in younger adults (defined as persons aged 21 to 39 years) and is an important risk factor for cardiovascular disease. Screening might identify younger adults with asymptomatic dyslipidemia who may benefit from lipid-lowering therapies. To update the 2008 U.S. Preventive Services Task Force review on dyslipidemia screening in younger adults. The Cochrane Central Register of Controlled Trials, the Cochrane Database of Systematic Reviews, and MEDLINE through May 2016, and reference lists. Randomized, controlled trials; cohort studies; and case-control studies on screening for or treatment of asymptomatic dyslipidemia in adults aged 21 to 39 years. The plan was for 1 investigator to abstract data and a second to check their accuracy, and for 2 investigators to independently assess study quality; however, no studies met the inclusion criteria. No study evaluated the effects of lipid screening versus no screening, treatment versus no treatment, or delayed versus earlier treatment on clinical outcomes in younger adults. In addition, no study evaluated the diagnostic yield of alternative screening strategies (such as targeted screening of persons with a family history of hyperlipidemia vs. general screening) in younger adults. No direct relevant evidence. Direct evidence on the benefits and harms of screening for or treatment of dyslipidemia in younger adults remains unavailable. Estimating the potential effects of screening for dyslipidemia in this population requires extrapolation from studies performed in older adults. Agency for Healthcare Research and Quality.

  11. Risk reductions for cardiovascular disease with pravastatin treatment by dyslipidemia phenotype: a post hoc analysis of the MEGA Study.

    Science.gov (United States)

    Nishiwaki, Masato; Ikewaki, Katsunori; Ayaori, Makoto; Mizuno, Kyoichi; Ohashi, Yasuo; Ohsuzu, Fumitaka; Ishikawa, Toshitsugu; Nakamura, Haruo

    2013-03-01

    The beneficial effect of statins for cardiovascular disease (CVD) prevention has been well established. However, the effectiveness among different phenotypes of dyslipidemia has not been confirmed. We evaluated the effect of pravastatin on the incidence of CVD in relation to the phenotype of dyslipidemia. The MEGA Study evaluated the effect of low-dose pravastatin on primary prevention of CVD in 7832 Japanese patients, who were randomized to diet alone or diet plus pravastatin and followed for more than 5 years. These patients were classified into phenotype IIa (n=5589) and IIb (n=2041) based on the electrophoretic pattern for this post hoc analysis. In the diet group there was no significant difference in the incidence of coronary heart disease (CHD), stroke, CVD, and total mortality between the two phenotypes. Phenotype IIb patients, compared to phenotype IIa, had lower levels of high-density lipoprotein cholesterol (HDL-C) and a significantly higher incidence of CVD in relation to a low HDL-C level (dyslipidemia. Significant risk reductions were observed for CHD by 38% (p=0.04) and CVD by 31% (p=0.02) in type IIa dyslipidemia but not in phenotype IIb. Pravastatin therapy provided significant risk reductions for CHD and CVD in patients with phenotype IIa dyslipidemia, but not in those with phenotype IIb dyslipidemia. Copyright © 2012 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  12. Pharmacological Targeting of the Atherogenic Dyslipidemia Complex: The Next Frontier in CVD Prevention Beyond Lowering LDL Cholesterol.

    Science.gov (United States)

    Xiao, Changting; Dash, Satya; Morgantini, Cecilia; Hegele, Robert A; Lewis, Gary F

    2016-07-01

    Notwithstanding the effectiveness of lowering LDL cholesterol, residual CVD risk remains in high-risk populations, including patients with diabetes, likely contributed to by non-LDL lipid abnormalities. In this Perspectives in Diabetes article, we emphasize that changing demographics and lifestyles over the past few decades have resulted in an epidemic of the "atherogenic dyslipidemia complex," the main features of which include hypertriglyceridemia, low HDL cholesterol levels, qualitative changes in LDL particles, accumulation of remnant lipoproteins, and postprandial hyperlipidemia. We briefly review the underlying pathophysiology of this form of dyslipidemia, in particular its association with insulin resistance, obesity, and type 2 diabetes, and the marked atherogenicity of this condition. We explain the failure of existing classes of therapeutic agents such as fibrates, niacin, and cholesteryl ester transfer protein inhibitors that are known to modify components of the atherogenic dyslipidemia complex. Finally, we discuss targeted repurposing of existing therapies and review promising new therapeutic strategies to modify the atherogenic dyslipidemia complex. We postulate that targeting the central abnormality of the atherogenic dyslipidemia complex, the elevation of triglyceride-rich lipoprotein particles, represents a new frontier in CVD prevention and is likely to prove the most effective strategy in correcting most aspects of the atherogenic dyslipidemia complex, thereby preventing CVD events. © 2016 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered.

  13. Weight change after 20 years of age and the incidence of dyslipidemia: a cohort study of Japanese male workers.

    Science.gov (United States)

    Sogabe, N; Sawada, S S; Lee, I-M; Kawakami, R; Ishikawa-Takata, K; Nakata, Y; Mitomi, M; Noguchi, J; Tsukamoto, K; Miyachi, M; Blair, S N

    2016-06-01

    While heavier weight is known to increase the incidence of dyslipidemia, limited data are available on the relationship between weight gain and its development. A total of 2647 males were categorized into the following four groups according to the difference between their self-reported weight at 20 years of age and their measured weight in 1994-95: a loss of ≥5% (decrease), loss of dyslipidemia were determined using logistic regression models. A total of 1342 participants developed dyslipidemia during the follow-up period. The 'increase' and 'sizable increase' groups had odds ratios for the incidence of dyslipidemia of 1.97 (95% CI, 1.59-2.45) and 2.68 (2.15-3.34), respectively, demonstrating that there was a significant dose-response association between weight gain since 20 years of age and the incidence of dyslipidemia (P dyslipidemia could be prevented by avoiding weight gain in adulthood. © The Author 2015. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  14. Introgressive hybridization: brown bears as vectors for polar bear alleles.

    Science.gov (United States)

    Hailer, Frank

    2015-03-01

    The dynamics and consequences of introgression can inform about numerous evolutionary processes. Biologists have therefore long been interested in hybridization. One challenge, however, lies in the identification of nonadmixed genotypes that can serve as a baseline for accurate quantification of admixture. In this issue of Molecular Ecology, Cahill et al. (2015) analyse a genomic data set of 28 polar bears, eight brown bears and one American black bear. Polar bear alleles are found to be introgressed into brown bears not only near a previously identified admixture zone on the Alaskan Admiralty, Baranof and Chichagof (ABC) Islands, but also far into the North American mainland. Elegantly contrasting admixture levels at autosomal and X chromosomal markers, Cahill and colleagues infer that male-biased dispersal has spread these introgressed alleles away from the Late Pleistocene contact zone. Compared to a previous study on the ABC Island population in which an Alaskan brown bear served as a putatively admixture-free reference, Cahill et al. (2015) utilize a newly sequenced Swedish brown bear as admixture baseline. This approach reveals that brown bears have been impacted by introgression from polar bears to a larger extent (up to 8.8% of their genome), than previously known, including the bear that had previously served as admixture baseline. No evidence for introgression of brown bear into polar bear is found, which the authors argue could be a consequence of selection. Besides adding new exciting pieces to the puzzle of polar/brown bear evolutionary history, the study by Cahill and colleagues highlights that wildlife genomics is moving from analysing single genomes towards a landscape genomics approach. © 2015 John Wiley & Sons Ltd.

  15. Allele Frequency - JSNP | LSDB Archive [Life Science Database Archive metadata

    Lifescience Database Archive (English)

    Full Text Available nd 39 SNPs are assayed in three (POP_*) and two (RIKEN_japanese_*) panels, respectively. Derived from Flat f... assay (JBIC-allele and RIKEN_japanese_*), TaqMan assay (RIKEN-allele) or direct sequencing / allelic discri...unteers under informed consent RIKEN_japanese_normal_weight - 711 unrelated japanese normal weight volunteer...s ( body mass index RIKEN_japanese_obese - 796 unrelated japanese obese patients

  16. Characterization of new allele influencing flowering time in bread wheat introgressed from Triticum militinae.

    Science.gov (United States)

    Ivaničová, Zuzana; Jakobson, Irena; Reis, Diana; Šafář, Jan; Milec, Zbyněk; Abrouk, Michael; Doležel, Jaroslav; Järve, Kadri; Valárik, Miroslav

    2016-09-25

    Flowering time variation was identified within a mapping population of doubled haploid lines developed from a cross between the introgressive line 8.1 and spring bread wheat cv. Tähti. The line 8.1 carried introgressions from tetraploid Triticum militinae in the cv. Tähti genetic background on chromosomes 1A, 2A, 4A, 5A, 7A, 1B and 5B. The most significant QTL for the flowering time variation was identified within the introgressed region on chromosome 5A and its largest effect was associated with the VRN-A1 locus, accounting for up to 70% of phenotypic variance. The allele of T. militinae origin was designated as VRN-A1f-like. The effect of the VRN-A1f-like allele was verified in two other mapping populations. QTL analysis identified that in cv. Tähti and cv. Mooni genetic background, VRN-A1f-like allele incurred a delay of 1.9-18.6 days in flowering time, depending on growing conditions. Sequence comparison of the VRN-A1f-like and VRN-A1a alleles from the parental lines of the mapping populations revealed major mutations in the promoter region as well as in the first intron, including insertion of a MITE element and a large deletion. The sequence variation allowed construction of specific diagnostic PCR markers for VRN-A1f-like allele determination. Identification and quantification of the effect of the VRN-A1f-like allele offers a useful tool for wheat breeding and for studying fine-scale regulation of flowering pathways in wheat. Copyright © 2016 Elsevier B.V. All rights reserved.

  17. Recombinational micro-evolution of functionally different metallothionein promoter alleles from Orchesella cincta

    Directory of Open Access Journals (Sweden)

    van Straalen Nico M

    2007-06-01

    Full Text Available Abstract Background Metallothionein (mt transcription is elevated in heavy metal tolerant field populations of Orchesella cincta (Collembola. This suggests that natural selection acts on transcriptional regulation of mt in springtails at sites where cadmium (Cd levels in soil reach toxic values This study investigates the nature and the evolutionary origin of polymorphisms in the metallothionein promoter (pmt and their functional significance for mt expression. Results We sequenced approximately 1600 bp upstream the mt coding region by genome walking. Nine pmt alleles were discovered in NW-European populations. They differ in the number of some indels, consensus transcription factor binding sites and core promoter elements. Extensive recombination events between some of the alleles can be inferred from the alignment. A deviation from neutral expectations was detected in a cadmium tolerant population, pointing towards balancing selection on some promoter stretches. Luciferase constructs were made from the most abundant alleles, and responses to Cd, paraquat (oxidative stress inducer and moulting hormone were studied in cell lines. By using paraquat we were able to dissect the effect of oxidative stress from the Cd specific effect, and extensive differences in mt induction levels between these two stressors were observed. Conclusion The pmt alleles evolved by a number of recombination events, and exhibited differential inducibilities by Cd, paraquat and molting hormone. In a tolerant population from a metal contaminated site, promoter allele frequencies differed significantly from a reference site and nucleotide polymorphisms in some promoter stretches deviated from neutral expectations, revealing a signature of balancing selection. Our results suggest that the structural differences in the Orchesella cincta metallothionein promoter alleles contribute to the metallothionein -over-expresser phenotype in cadmium tolerant populations.

  18. The correlation between serum free thyroxine and regression of dyslipidemia in adult males: A 4.5-year prospective study.

    Science.gov (United States)

    Wang, Haoyu; Liu, Aihua; Zhou, Yingying; Xiao, Yue; Yan, Yumeng; Zhao, Tong; Gong, Xun; Pang, Tianxiao; Fan, Chenling; Zhao, Jiajun; Teng, Weiping; Shan, Zhongyan; Lai, Yaxin

    2017-09-01

    Elevated free thyroxine (FT4) levels may play a protective role in development of dyslipidemia. However, few prospective studies have been performed to definite the effects of thyroid hormones on the improvement of dyslipidemia and its components. Thus, this study aims to clarify the association between thyroid hormones within normal range and reversal of dyslipidemia in the absence of intervention.A prospective analysis including 134 adult males was performed between 2010 and 2014. Anthropometric parameters, thyroid function, and lipid profile were measured at baseline and during follow-up. Logistic regression and receiver operating characteristic (ROC) analysis were conducted to identify the variables in forecasting the reversal of dyslipidemia and its components.During 4.5-year follow-up, 36.6% (49/134) patients resolved their dyslipidemia status without drug intervention. Compared with the continuous dyslipidemia group, subjects in reversal group had elevated FT4 and high-density lipoprotein cholesterol (HDL-C) levels, as well as decreased total cholesterol (TC), triglycerides (TG), and low-density lipoprotein cholesterol (LDL-C) levels at baseline. Furthermore, baseline FT4 is negatively associated with the change percentages of TG (r = -0.286, P = .001), while positively associated with HDL-C (r = 0.227, P = .008). However, no correlation of lipid profile change percentages with FT3 and TSH were observed. Furthermore, the improving effects of baseline FT4 on dyslipidemia, high TG, and low HDL-C status were still observed after multivariable adjustment. In ROC analysis, areas under curve (AUCs) for FT4 in predicting the reversal of dyslipidemia, high TG, and low HDL-C were 0.666, 0.643, and 0.702, respectively (P = .001 for dyslipidemia, .018 for high TG, and .001 for low HDL-C).Higher FT4 value within normal range may ameliorate the dyslipidemia, especially high TG and low HDL-C status, in males without drug intervention. This suggests

  19. Prevalence of dyslipidemia in adult Indian diabetic patients: A cross sectional study (SOLID

    Directory of Open Access Journals (Sweden)

    Ambrish Mithal

    2014-01-01

    Full Text Available Context: India leads the world with largest number of diabetic patients and is often referred to as the diabetes capital of the world. Diabetic dyslipidemia in India is one of the main cause for Coronary Artery Disease (CAD mortality. Although diabetes continues to be a major lifestyle condition in India, there is a lack of studies in India on whether dyslipidemia in Indian diabetics is being adequately controlled. Our study provides critical insights into the insights into proportion of diabetes patients achieving lipid goal in India. Aims: The primary objective of our study was to assess the control of dyslipidemia in the Indian diabetic population treated with lipid lowering drugs (LLDs, as per American Diabetes Association (ADA 2010 guidelines. Settings and Design: The study was carried out in a real world Indian clinical setting involving 178 sites. This is a multicenter, noninterventional, and cross-sectional observational study. Materials and Methods: A total of 5400 adult subjects with established type-2 diabetes mellitus (T2DM and dyslipidemia were recruited for the study. Patients in the study were on LLD at a stable dose for at least last 3 months before the designated study visit. Routine lipid profile tests were conducted for all patients. Statistical Analysis Used: Descriptive statistics was used to analyze qualitative and discrete variables. Chi-square test and t-test were conducted to assess the existence of statistically significant association between the variables. Results: A total of 5400 patients with T2DM from 178 centers across India were recruited. Out of the total population, 56.75% (N = 3065 of them were males. Primary end-point of low-density lipoprotein cholesterol (LDL-C level below ADA 2010 target was achieved in a total of 48.74% (N = 2632 patients. Gender was significantly associated with lipid levels and age was significantly (P < 0.05 correlated with all lipid levels. Control rates of other lipid parameters like

  20. Database for the ampC alleles in Acinetobacter baumannii.

    Directory of Open Access Journals (Sweden)

    Nabil Karah

    Full Text Available Acinetobacter baumannii is a troublesome opportunistic pathogen with a high capacity for clonal dissemination. We announce the establishment of a database for the ampC locus in A. baumannii, in which novel ampC alleles are differentiated based on the occurrence of ≥ 1 nucleotide change, regardless of whether it is silent or missense. The database is openly accessible at the pubmlst platform for A. baumannii (http://pubmlst.org/abaumannii/. Forty-eight distinctive alleles of the ampC locus have so far been identified and deposited in the database. Isolates from clonal complex 1 (CC1, according to the Pasteur multilocus sequence typing scheme, had a variety of the ampC locus alleles, including alleles 1, 3, 4, 5, 6, 7, 8, 13, 14, 17, and 18. On the other hand, isolates from CC2 had the ampC alleles 2, 3, 19, 20, 21, 22, 23, 24, 26, 27, 28, and 46. Allele 3 was characteristic for sequence types ST3 or ST32. The ampC alleles 10, 16, and 25 were characteristic for CC10, ST16, and CC25, respectively. Our study points out that novel gene databases, in which alleles are numbered based on differences in their nucleotide identities, should replace traditional records that use amino acid substitutions to define new alleles.

  1. Allele-specific expression at the androgen receptor alpha gene in a hybrid unisexual fish, the Amazon molly (Poecilia formosa.

    Directory of Open Access Journals (Sweden)

    Fangjun Zhu

    Full Text Available The all-female Amazon molly (Poecilia formosa is the result of a hybridization of the Atlantic molly (P. mexicana and the sailfin molly (P. latipinna approximately 120,000 years ago. As a gynogenetic species, P. formosa needs to copulate with heterospecific males including males from one of its bisexual ancestral species. However, the sperm only triggers embryogenesis of the diploid eggs. The genetic information of the sperm donor typically will not contribute to the next generation of P. formosa. Hence, P. formosa possesses generally one allele from each of its ancestral species at any genetic locus. This raises the question whether both ancestral alleles are equally expressed in P. formosa. Allele-specific expression (ASE has been previously assessed in various organisms, e.g., human and fish, and ASE was found to be important in the context of phenotypic variability and disease. In this study, we utilized Real-Time PCR techniques to estimate ASE of the androgen receptor alpha (arα gene in several distinct tissues of Amazon mollies. We found an allelic bias favoring the maternal ancestor (P. mexicana allele in ovarian tissue. This allelic bias was not observed in the gill or the brain tissue. Sequencing of the promoter regions of both alleles revealed an association between an Indel in a known CpG island and differential expression. Future studies may reveal whether our observed cis-regulatory divergence is caused by an ovary-specific trans-regulatory element, preferentially activating the allele of the maternal ancestor.

  2. Association of DNA damage and dyslipidemia with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Manikkumar R

    2013-02-01

    Full Text Available Polycystic ovary syndrome (PCOS is associated with hyperinsuli-nemia and insulin resistance which may lead to cardiovascular diseases. Evidence for cardiovascular events in women who were affected by PCOS during fertile age is limited. The pathogenesis is unknown; however, it is a complex multigenetic disorder. The present study was undertaken to evaluate the various cardiovas-cular risk factors and their DNA repair efficiency in women with PCOS by investigating the biochemical, endocrinological and mo-lecular cytogenetic alterations. These investigations were carried out in 116 women in the age group of 15-35 years clinically diag-nosed with PCOS. Data were compared with that of 50 age-matched healthy normal women. Fasting blood sugar (FBS, Lipid profile, Follicle-Stimulating Hormone (FSH and Luteinizing Hor-mone (LH, Prolactin and Estradiol were estimated after getting the informed consent. Mutagen induced chromosome sensitivity analysis was carried out in the lymphocytes of the subjects to as-sess the DNA repair proficiency. Fasting Blood Sugar, total cho-lesterol and LDL cholesterol were found to be elevated whereas HDL cholesterol was found to be lowered in the test subjects. FSH, LH and prolactin were also found to be significantly elevated in the test subjects. Change in the estradiol concentration in the test subjects was not significant. The mutagen sensitivity analysis revealed a significant elevation in break per cell (b/c values indi-cating a deficiency in the DNA repair mechanism / DNA damage in PCOS patients. Modification of life style by changing the dietary habit and sedentary life style will help to reduce the oxidative stress and may increase the ovarian function and a sensible life-style management is recommended for reducing the risk for CVD.

  3. Effects of aqueous extracts of dried calyx of sour tea (Hibiscus sabdariffa L. on polygenic dyslipidemia: A randomized clinical trial

    Directory of Open Access Journals (Sweden)

    Majid Hajifaraji

    2017-12-01

    Full Text Available Objective: Dyslipidemia has been considered as a major risk factor for coronary heart disease. Alternative medicine has a significant role in treatment of dyslipidemia. There are controversial findings regarding the effects of sour tea on dyslipidemia. The aim of this study was to evaluate the impact of aqueous extract of dried calyx of sour tea on polygenic dyslipidemia. Materials and Methods: This clinical trial was done on 43 adults (30-60 years old with polygenic dyslipidemia that were randomly assigned to the intervention and control groups. The control group was trained in lifestyle modifications at baseline. The intervention group was trained for lifestyle modifications at baseline and received two cups of sour tea daily, and both groups were followed up for 12 weeks. Lipid profile was evaluated at baseline, and six and 12 weeks following the intervention. In addition, dietary and physical activity assessed at baseline for twelve weeks. Results: Mean concentration of total cholesterol, HDL-C and LDL-C significantly decreased by up to 9.46%, 8.33%, and 9.80%, respectively, after 12 weeks in the intervention group in comparison to their baseline values. However, LDL-C/HDL-C ratio significantly increased  by up to 3.15%, following 12 weeks in the control group in comparison to their baseline values. This study showed no difference in lipid profiles between the two groups, except for HDL-C concentrations. Conclusion: sour tea may have significant positive effects on lipid profile of polygenic dyslipidemia subjects and these effect might be attributed to its anthocyanins and inflation factor content. Therefore, sour tea intake with recommended dietary patterns and physical activity can be useful in regulation of lipid profile in patients with polygenic dyslipidemia.

  4. [Prevalence of dyslipidemia and its influential factors in 2 028 students from primary and middle schools in Changsha].

    Science.gov (United States)

    Li, Yamei; Luo, Jiayou; Ma, Jun; Zou, Zhiyong; Liu, Xiaoqun; Li, Huixia

    2017-06-28

    To determine the prevalence of dyslipidemia in students from the primary and middle schools and the influential factors, and to provide evidence for the prevention and control of dyslipidemia and relevant chronic diseases in primary and middle schools. 
 Methods: A total of 2 028 students aged 7 to 17 from the primary and middle schools in Changsha were selected by stratified random cluster sampling. The contents of the study included questionnaire survey, physical measurement and blood tests for fasting blood triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C) levels. Non-high-density lipoprotein cholesterol (non-HDL-C) level was calculated by TC level minus HDL-C level. Chi-square test and non-conditional logistic regression model were used to analyze the factors that contributed to dyslipidemia.
 Results: The dyslipidemia rate was 18.6%, and the abnormal rates of TG, TC, LDL-C, non-HDL-C and HDL-C were 6.8%, 5.6%, 2.3%, 4.2% and 8.6%, respectively. By chi-square test, the dyslipidemia rate in students with different ages, home locations, BMI groups, central obesity, time on watching TV or playing computer per day, and daily sleep time was statistically significant. Non-conditional logistic regression analysis showed that home location for the city (OR=1.332), overweight (OR=1.548), obesity (OR=2.201), central obesity (OR=1.695), watching TV or playing computer for more than 2 hours per day (OR=1.357), daily sleep time longer than 11 hours (OR=2.518) were the risk factors for dyslipidemia in students from the primary and middle schools. 
 Conclusion: Nearly 1/5 primary and middle school students show dyslipidemia, which is associated with obesity and other bad behaviors.

  5. [Prevalence of dyslipidemia and normal blood lipids level in Uygur population in Kashgar area of Xinjiang Uygur Autonomous Region].

    Science.gov (United States)

    Zhang, Z B; Xue, Z X; Wu, X J; Wang, T M; Li, Y H; Song, X L; Chao, X F; Wang, G; Nazibam, Nurmamat; Ayxamgul, Bawudun; Gulbahar, Elyas; Zhou, Z Y; Sun, B S; Wang, Y Z; Wang, M

    2017-06-10

    Objective: To understand the prevalence of dyslipidemia and normal blood lipids level in Uygur diabetes patients in Kashgar prefecture in southern area of Xinjiang. Methods: A total of 5 078 local residents aged ≥18 years (42.56 % were men) selected through cluster random sampling in Kashgar were surveyed by means of questionnaire survey, physical examination and laboratory test, and 521 diabetes patients were screened. Results: The overall prevalence of dyslipidemia in diabetes patients was 59.50 % (310/521) with adjusted rate as 49.39 % . Age ≥65 years, overweight, obesity and abdominal obesity increased the risk for dyslipidemia by 0.771 times (95 % CI : 1.015-3.088), 1.132 times (95 % CI : 1.290-3.523), 1.688 times (95 % CI : 1.573-4.592) and 0.801 times (95 % CI : 1.028-3.155) respectively. Compared with males, female was a protective factor for dyslipidemia ( OR =0.507, 95 %CI : 0.334-0.769). The overall normal rate of blood lipids level including total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) for type 2 diabetes patients was 11.13 % . Female, higher BMI and abdominal obesity were the factors influencing the overall normal blood lipids level. The normal rate of LDL-C level decreased with increase of age, BMI and waist circumferences (trend test χ (2)=18.049, P dyslipidemia in Uygur diabetes patients in Kashgar was high, however, the overall normal rate of blood lipid level was relatively low. Obesity was the most important risk factor for dyslipidemia in this area. More attention should be paid to dyslipidemia prevention in women.

  6. Multimer Formation Explains Allelic Suppression of PRDM9 Recombination Hotspots.

    Science.gov (United States)

    Baker, Christopher L; Petkova, Pavlina; Walker, Michael; Flachs, Petr; Mihola, Ondrej; Trachtulec, Zdenek; Petkov, Petko M; Paigen, Kenneth

    2015-09-01

    Genetic recombination during meiosis functions to increase genetic diversity, promotes elimination of deleterious alleles, and helps assure proper segregation of chromatids. Mammalian recombination events are concentrated at specialized sites, termed hotspots, whose locations are determined by PRDM9, a zinc finger DNA-binding histone methyltransferase. Prdm9 is highly polymorphic with most alleles activating their own set of hotspots. In populations exhibiting high frequencies of heterozygosity, questions remain about the influences different alleles have in heterozygous individuals where the two variant forms of PRDM9 typically do not activate equivalent populations of hotspots. We now find that, in addition to activating its own hotspots, the presence of one Prdm9 allele can modify the activity of hotspots activated by the other allele. PRDM9 function is also dosage sensitive; Prdm9+/- heterozygous null mice have reduced numbers and less active hotspots and increased numbers of aberrant germ cells. In mice carrying two Prdm9 alleles, there is allelic competition; the stronger Prdm9 allele can partially or entirely suppress chromatin modification and recombination at hotspots of the weaker allele. In cell cultures, PRDM9 protein variants form functional heteromeric complexes which can bind hotspots sequences. When a heteromeric complex binds at a hotspot of one PRDM9 variant, the other PRDM9 variant, which would otherwise not bind, can still methylate hotspot nucleosomes. We propose that in heterozygous individuals the underlying molecular mechanism of allelic suppression results from formation of PRDM9 heteromers, where the DNA binding activity of one protein variant dominantly directs recombination initiation towards its own hotspots, effectively titrating down recombination by the other protein variant. In natural populations with many heterozygous individuals, allelic competition will influence the recombination landscape.

  7. Estimating and testing the effect of allelic recombination on the ...

    African Journals Online (AJOL)

    Jane

    2011-01-21

    Jan 21, 2011 ... The significance of the correlation coefficient as well as the fitted regression model was obtained using. Analysis of Variance method. Key words: Allele, genotype, regression, correlation, F-ratio, analysis of variance. INTRODUCTION .... while if the allelic replacement is being made on an Aa individual the ...

  8. Low Penetrance Alleles in Colorectal Cancer: the arachidonic acid pathway

    NARCIS (Netherlands)

    C.L.E. Siezen

    2006-01-01

    textabstractIn summary, we can conclude that we have successfully identified low penetrance alleles in the PPAR., PLA2G2A and ALOX15 genes, conferring differential colorectal adenoma risk, and two such alleles in the PTGS2 gene, one of which is also involved in colorectal cancer risk. These

  9. Comparison of bovine lymphocyte antigen DRB3.2 allele ...

    African Journals Online (AJOL)

    STORAGESEVER

    2008-08-04

    Aug 4, 2008 ... The bovine lymphocyte antigen (BoLA-DRB3) gene encodes cell ... alleles were more resistant to clinical mastitis. ... DRB3.2 allele pattern in two Iranian Holstein cow .... observed and the number of immune parameters with.

  10. Evolutionary dynamics of sporophytic self-incompatibility alleles in plants

    DEFF Research Database (Denmark)

    Schierup, Mikkel Heide; Vekemans, Xavier; Christiansen, Freddy Bugge

    1997-01-01

    codominantly in both pollen and style (SSIcod), in the second, alleles form a dominance hierarchy in pollen and style (SSIdom). In the third model, alleles interact codominantly in the style and form a dominance hierarchy in the pollen (SSIdomcod). The SSIcod model behaves similarly to the model...

  11. Human minisatellite alleles detectable only after PCR amplification.

    Science.gov (United States)

    Armour, J A; Crosier, M; Jeffreys, A J

    1992-01-01

    We present evidence that a proportion of alleles at two human minisatellite loci is undetected by standard Southern blot hybridization. In each case the missing allele(s) can be identified after PCR amplification and correspond to tandem arrays too short to detect by hybridization. At one locus, there is only one undetected allele (population frequency 0.3), which contains just three repeat units. At the second locus, there are at least five undetected alleles (total population frequency 0.9) containing 60-120 repeats; they are not detected because these tandem repeats give very poor signals when used as a probe in standard Southern blot hybridization, and also cross-hybridize with other sequences in the genome. Under these circumstances only signals from the longest tandemly repeated alleles are detectable above the nonspecific background. The structures of these loci have been compared in human and primate DNA, and at one locus the short human allele containing three repeat units is shown to be an intermediate state in the expansion of a monomeric precursor allele in primates to high copy number in the longer human arrays. We discuss the implications of such loci for studies of human populations, minisatellite isolation by cloning, and the evolution of highly variable tandem arrays.

  12. Comparative frequency and allelic distribution of ABO and Rh (D ...

    African Journals Online (AJOL)

    Background: Allelic distribution of major blood groups (ABO and rhesus) has not been defined in Bangladeshi population. Determinants of blood group frequency in this region have not been studied properly. Aim: To determine ABO and rhesus blood group frequency and allelic distribution in a multiethnic area of ...

  13. Apolipoprotein E4 allele does not influence serum triglyceride ...

    African Journals Online (AJOL)

    This study investigated how the APOε4 allele affects the serum triglyceride response after a fatmeal in apparently healthy black South African young adults. Sixty students were successfully screened for APOE genotype using Restriction Fragment Length Polymorphism (RFLP) and were divided into four groups; the ε2 allele ...

  14. Two domain-disrupted hda6 alleles have opposite epigenetic effects on transgenes and some endogenous targets

    KAUST Repository

    Zhang, ShouDong; Zhan, Xiangqiang; Xu, Xiaoming; Cui, Peng; Zhu, Jian-Kang; Xia, Yiji; Xiong, Liming

    2015-01-01

    HDA6 is a RPD3-like histone deacetylase. In Arabidopsis, it mediates transgene and some endogenous target transcriptional gene silencing (TGS) via histone deacetylation and DNA methylation. Here, we characterized two hda6 mutant alleles that were recovered as second-site suppressors of the DNA demethylation mutant ros1–1. Although both alleles derepressed 35S::NPTII and RD29A::LUC in the ros1–1 background, they had distinct effects on the expression of these two transgenes. In accordance to expression profiles of two transgenes, the alleles have distinct opposite methylation profiles on two reporter gene promoters. Furthermore, both alleles could interact in vitro and in vivo with the DNA methyltransferase1 with differential interactive strength and patterns. Although these alleles accumulated different levels of repressive/active histone marks, DNA methylation but not histone modifications in the two transgene promoters was found to correlate with the level of derepression of the reporter genes between the two had6 alleles. Our study reveals that mutations in different domains of HDA6 convey different epigenetic status that in turn controls the expression of the transgenes as well as some endogenous loci.

  15. Two domain-disrupted hda6 alleles have opposite epigenetic effects on transgenes and some endogenous targets

    KAUST Repository

    Zhang, ShouDong

    2015-12-15

    HDA6 is a RPD3-like histone deacetylase. In Arabidopsis, it mediates transgene and some endogenous target transcriptional gene silencing (TGS) via histone deacetylation and DNA methylation. Here, we characterized two hda6 mutant alleles that were recovered as second-site suppressors of the DNA demethylation mutant ros1–1. Although both alleles derepressed 35S::NPTII and RD29A::LUC in the ros1–1 background, they had distinct effects on the expression of these two transgenes. In accordance to expression profiles of two transgenes, the alleles have distinct opposite methylation profiles on two reporter gene promoters. Furthermore, both alleles could interact in vitro and in vivo with the DNA methyltransferase1 with differential interactive strength and patterns. Although these alleles accumulated different levels of repressive/active histone marks, DNA methylation but not histone modifications in the two transgene promoters was found to correlate with the level of derepression of the reporter genes between the two had6 alleles. Our study reveals that mutations in different domains of HDA6 convey different epigenetic status that in turn controls the expression of the transgenes as well as some endogenous loci.

  16. MASTR: A Technique for Mosaic Mutant Analysis with Spatial and Temporal Control of Recombination Using Conditional Floxed Alleles in Mice

    Directory of Open Access Journals (Sweden)

    Zhimin Lao

    2012-08-01

    Full Text Available Mosaic mutant analysis, the study of cellular defects in scattered mutant cells in a wild-type environment, is a powerful approach for identifying critical functions of genes and has been applied extensively to invertebrate model organisms. A highly versatile technique has been developed in mouse: MASTR (mosaic mutant analysis with spatial and temporal control of recombination, which utilizes the increasing number of floxed alleles and simultaneously combines conditional gene mutagenesis and cell marking for fate analysis. A targeted allele (R26MASTR was engineered; the allele expresses a GFPcre fusion protein following FLP-mediated recombination, which serves the dual function of deleting floxed alleles and marking mutant cells with GFP. Within 24 hr of tamoxifen administration to R26MASTR mice carrying an inducible FlpoER transgene and a floxed allele, nearly all GFP-expressing cells have a mutant allele. The fate of single cells lacking FGF8 or SHH signaling in the developing hindbrain was analyzed using MASTR, and it was revealed that there is only a short time window when neural progenitors require FGFR1 for viability and that granule cell precursors differentiate rapidly when SMO is lost. MASTR is a powerful tool that provides cell-type-specific (spatial and temporal marking of mosaic mutant cells and is broadly applicable to developmental, cancer, and adult stem cell studies.

  17. Erectile Dysfunction Among HIV Patients Undergoing Highly Active Antiretroviral Therapy: Dyslipidemia as a Main Risk Factor

    Science.gov (United States)

    Romero-Velez, Gustavo; Lisker-Cervantes, Andrés; Villeda-Sandoval, Christian I; Sotomayor de Zavaleta, Mariano; Olvera-Posada, Daniel; Sierra-Madero, Juan Gerardo; Arreguin-Camacho, Lucrecia O; Castillejos-Molina, Ricardo A

    2014-01-01

    Objective To assess the prevalence and risk factors of erectile dysfunction (ED) in HIV patients from the HIV clinic of a tertiary referral center in Mexico City. Design Prevalence was obtained from cross-sectional studies, and the International Index of Erectile Function (IIEF), a standardized method, was used to assess ED. Methods A cross-sectional study was performed in the HIV clinic. Participants completed the IIEF to allow ED assessment. Information on demographics, clinical and HIV-related variables was retrieved from their medical records. Results One hundred and nine patients were included, with a mean age of 39.9 ± 8.8 years. ED was present in 65.1% of the individuals. Patients had been diagnosed with HIV for a mean of 92.7 ± 70.3 months and had undergone a mean 56.4 ± 45.5 months of HAART. The only variable associated with ED in the univariate analysis was dyslipidemia, and this association was also found in the multivariate analysis (P = 0.01). Conclusions ED is highly prevalent in HIV patients. Dyslipidemia should be considered as a risk factor for ED in HIV patients. Romero-Velez G, Lisker-Cervantes A, Villeda-Sandoval CI, Sotomayor de Zavaleta M, Olvera-Posada D, Sierra-Madero JG, Arreguin-Camacho LO, and Castillejos-Molina RA. Erectile dysfunction among HIV patients undergoing highly active antiretroviral therapy: Dyslipidemia as a main risk factor. Sex Med 2014;2:24–30. PMID:25356298

  18. The cumulative effect of core lifestyle behaviours on the prevalence of hypertension and dyslipidemia

    Directory of Open Access Journals (Sweden)

    Kearney Patricia M

    2008-06-01

    Full Text Available Abstract Background Most cardiovascular disease (CVD occurs in the presence of traditional risk factors, including hypertension and dyslipidemia, and these in turn are influenced by behavioural factors such as diet and lifestyle. Previous research has identified a group at low risk of CVD based on a cluster of inter-related factors: body mass index (BMI 2, moderate exercise, alcohol intake, non-smoking and a favourable dietary pattern. The objective of this study was to determine whether these factors are associated with a reduced prevalence of hypertension and dyslipidemia in an Irish adult population. Methods The study was a cross-sectional survey of 1018 men and women sampled from 17 general practices. Participants completed health, lifestyle and food frequency questionnaires and provided fasting blood samples for analysis of glucose and insulin. We defined a low risk group based on the following protective factors: BMI 2; waist-hip ratio (WHR Results We found strong significant inverse associations between the number of protective factors and systolic blood pressure, diastolic blood pressure and dyslipidemia. The prevalence odds ratio of hypertension in persons with 1, 2, 3, ≥ 4 protective factors relative to those with none, were 1.0, 0.76, 0.68 and 0.34 (trend p Conclusion Our findings of a strong inverse association between low risk behaviours and two of the traditional risk factors for CVD highlight the importance of 'the causes of the causes' and the potential for behaviour modification in CVD prevention at a population level.

  19. Effects of Saponin from Trigonella Foenum-Graecum Seeds on Dyslipidemia

    Directory of Open Access Journals (Sweden)

    Zhi Chen

    2017-11-01

    Full Text Available Background: Saponins identified from fenugreek (Trigonella foenum-graecum seeds are reported effective on dyslipidemia. However, the definite mechanism is still not elucidated systematically. In this study, we evaluate the effects of saponin extract on cholesterol absorption, metabolism, synthesis, and reverse cholesterol transport in vivo. Methods: Saponin extract was prepared according to a craft established in our previous study. After the establishment of dyslipidemia model, 40 male Sprague-Dawley rats were divided into five groups, namely the control group (normal diet plus normal saline, HFD group (high fat diet plus normal saline, Lipitor group (high fat diet plus Lipitor (2 mg/kg, and L, M, and H-saponin groups (high fat diet plus saponin in dosages of 6, 12, and 24 mg/kg, respectively. Rats were sacrificed at the end of the 9th week after treatment. Biochemical characteristics of rats were tested, histopathological sections of liver tissue were observed, and the protein and mRNA expression of related factors of cholesterol in the intestine and liver were determined. One-way ANOVA test (SPSS software version 11.5, Chicago, IL, USA was used to determine statistically significant differences between the HFD and other groups. Results: In saponin groups, the serum lipid, bile acid efflux, anti-peroxide activities, and lipid area of liver tissue improved. Cholesterol 7alpha-hydroxylase and scavenger receptor class B type I elevated in the liver. 3-hydroxy-3-methylglutaryl coenzyme A reductase levels were suppressed in both the serum and liver. However, significant cholesterol efflux was not found and Niemann-Pick C1-Like 1 levels elevated in the intestine. Conclusion: The mechanisms of saponin in Fenugreek effect on ameliorating dyslipidemia are probably related to accelerated cholesterol metabolism, inhibited cholesterol synthesis, and facilitated reverse cholesterol transport, but not cholesterol absorption.

  20. Does Adjuvant Treatment With Ginkgo Biloba to Statins Have Additional Benefits in Patients With Dyslipidemia?

    Directory of Open Access Journals (Sweden)

    Yu Fan

    2018-06-01

    Full Text Available Objective: Ginkgo biloba are widely used alone or in combination with other lipid-lowering agents in the treatment of dyslipidemia in China. We conducted this meta-analysis to investigate whether adjuvant treatment with ginkgo biloba leaves to statins has incremental benefits in patients with dyslipidemia.Methods: Potential studies were searched from PubMed, EMBASE, Cochrane Library, China National Knowledge Infrastructure, VIP, and Wanfang database up to October 2017. Only randomized controlled trials (RCTs comparing the efficacy and safety of ginkgo biloba leaves plus statins versus statins alone in patients with dyslipidemia were included.Results: Eight RCTs involving 664 patients were included. Compared with statins therapy alone, combination of statins and ginkgo biloba leaves therapy achieved greater reductions in triglycerides [mean difference (MD -0.32 mmol/L; 95% confidence interval (CI -0.43 to -0.20], total cholesterol (MD -0.61 mmol/L; 95% CI -0.90 to -0.33, or low-density lipoprotein cholesterol (LDL-C (MD -0.32 mmol/L; 95% CI -0.48 to -0.16, and a greater increment in high-density lipoprotein cholesterol (MD 0.26 mmol/L; 95% CI 0.15 to 0.37. Subgroup analyses showed that ginkgo biloba leaves plus simvastatin appeared to achieve a greater reduction in serum levels of triglycerides, total cholesterol, and LDL-C than in combination with atorvastatin therapy.Conclusion: This meta-analysis suggests that adjuvant treatment with ginkgo biloba leaves appears to improve blood lipid parameters than statins therapy alone. More well-designed RCTs are needed to investigate the benefits of the combination of statins and ginkgo biloba leaves.

  1. Effects of Anthocyanin on Serum Lipids in Dyslipidemia Patients: A Systematic Review and Meta-Analysis.

    Directory of Open Access Journals (Sweden)

    Changfeng Liu

    Full Text Available Dyslipidemia was present in most of the patients with coronary heart disease. Epidemiological evidence suggests that anthocyanin has some effects on the serum lipid. However, these results are controversial. This study aimed at collecting current clinical evidence and evaluating the effects of anthocyanin supplementation on total cholesterol (TC, triglyceride (TG, low-density lipoprotein cholesterol (LDL-C, and high-density lipoprotein cholesterol (HDL-C in dialysis patients.The search included PubMed, Web of Science, MEDLINE, Cochrane Library, China National Knowledge Infrastructure, Wanfang Database (up to July 2015 to identify randomized controlled trials (RCTs on the association between anthocyanin and serum lipids. RevMan (version 5.2 was used for Meta-analysis. Meta-regression analysis, sensitivity analysis and Egger's weighted regression tests were performed by using STATA software (version 12.0; StatCorp, College Station, TX, USA.Six studies (seven arms involving 586 subjects were included in this meta-analysis. The results showed that anthocyanin supplementation has significant effects on TC [MD = -24.06, 95% CI(-45.58 to -2.64 mg/dL, I2 = 93%], TG [MD = -26.14, 95%CI(-40.20 to -3.08 mg/dL, I2 = 66%1], LDL-C [MD = -22.10, 95% CI (-34.36 to -9.85 mg/dL, I2 = 61%], and HDL-C(MD = 5.58, 95% CI (1.02 to 10.14 mg/dL;I2 = 90%.Anthocyanin supplementation significantly reduces serum TC, TG, and LDL-C levels in patients with dyslipidemia, and increases HDL-C. Further rigorously designed RCTs with larger sample sizes are needed to confirm the effectiveness of anthocyanin supplementation for dyslipidemia, especially hypo high density lipoprotein cholesterolemia.

  2. Assigning breed origin to alleles in crossbred animals.

    Science.gov (United States)

    Vandenplas, Jérémie; Calus, Mario P L; Sevillano, Claudia A; Windig, Jack J; Bastiaansen, John W M

    2016-08-22

    For some species, animal production systems are based on the use of crossbreeding to take advantage of the increased performance of crossbred compared to purebred animals. Effects of single nucleotide polymorphisms (SNPs) may differ between purebred and crossbred animals for several reasons: (1) differences in linkage disequilibrium between SNP alleles and a quantitative trait locus; (2) differences in genetic backgrounds (e.g., dominance and epistatic interactions); and (3) differences in environmental conditions, which result in genotype-by-environment interactions. Thus, SNP effects may be breed-specific, which has led to the development of genomic evaluations for crossbred performance that take such effects into account. However, to estimate breed-specific effects, it is necessary to know breed origin of alleles in crossbred animals. Therefore, our aim was to develop an approach for assigning breed origin to alleles of crossbred animals (termed BOA) without information on pedigree and to study its accuracy by considering various factors, including distance between breeds. The BOA approach consists of: (1) phasing genotypes of purebred and crossbred animals; (2) assigning breed origin to phased haplotypes; and (3) assigning breed origin to alleles of crossbred animals based on a library of assigned haplotypes, the breed composition of crossbred animals, and their SNP genotypes. The accuracy of allele assignments was determined for simulated datasets that include crosses between closely-related, distantly-related and unrelated breeds. Across these scenarios, the percentage of alleles of a crossbred animal that were correctly assigned to their breed origin was greater than 90 %, and increased with increasing distance between breeds, while the percentage of incorrectly assigned alleles was always less than 2 %. For the remaining alleles, i.e. 0 to 10 % of all alleles of a crossbred animal, breed origin could not be assigned. The BOA approach accurately assigns

  3. Synergistic potential of Zingiber officinale and Curcuma longa to ameliorate diabetic-dyslipidemia.

    Science.gov (United States)

    Hussain, Naveed; Hashmi, Abu-Saeed; Wasim, Muhammad; Akhtar, Tauqeer; Saeed, Shagufta; Ahmad, Toheed

    2018-03-01

    To find the cure of world's one of the leading morbid and mortal disorders; diabetes mellitus and its most prevalent complication, 'diabetic-dyslipidemia', is one of the leading health challenges of 21st century. The use of phytomedicine is a glimmer of hope in this scenario. Studies of current decade have shown that methanolic extracts of Zingiber officinale and Curcuma longa have highly effective therapeutic potentials against the aforesaid disorders, however, which of the extracts has more potential is still unclear. Furthermore, synergistic effect of the extracts has never been studied. Forty-eight Albino adult rats of either sex were randomly divided into eight groups. A-D groups were containing healthy rats while E-H groups were of induced diabetic-dyslipidemic rats. For forty-two days, rats of each group were given either distilled water or Zingiber officinale methanolic extract (ZOME) or Curcuma longa methanolic extract (CLME) or ZOME+CLME therapies at dose rate of 300mg/100 mL dist. H 2 O/kg body wt/day. FPG and lipid profiles were estimated before and after the trial, and were statistically analyzed by one-way ANOVA along with Post-hoc Tukey's multiple comparison tests. Although, ZOME and CLME significantly (P<0.05) lowered fasting plasma glucose (FPG) levels and controlled lipid profiles in diabetic-dyslipidemic rats; yet, synergistic therapy of both extracts (ZOME+CLME) most significantly (P<0.05) controlled all parameters of diabetic-dyslipidemia (78.00±1.06mg/dL FPG, 62.00±0.58mg/dL TG, 66.50±0.76mg/dL cholesterol, 32.00±0.36mg/dL HDL, 22.43±0.64 mg/dL LDL, and 12.40±0.12mg/dL VLDL). Our findings may be useful to formulate new medicines having multiple potentials to control diabetes mellitus, dyslipidemia, and diabetic-dyslipidemia.

  4. The cumulative effect of core lifestyle behaviours on the prevalence of hypertension and dyslipidemia.

    LENUS (Irish Health Repository)

    Villegas, Raquel

    2008-01-01

    BACKGROUND: Most cardiovascular disease (CVD) occurs in the presence of traditional risk factors, including hypertension and dyslipidemia, and these in turn are influenced by behavioural factors such as diet and lifestyle. Previous research has identified a group at low risk of CVD based on a cluster of inter-related factors: body mass index (BMI) < 25 Kg\\/m2, moderate exercise, alcohol intake, non-smoking and a favourable dietary pattern. The objective of this study was to determine whether these factors are associated with a reduced prevalence of hypertension and dyslipidemia in an Irish adult population. METHODS: The study was a cross-sectional survey of 1018 men and women sampled from 17 general practices. Participants completed health, lifestyle and food frequency questionnaires and provided fasting blood samples for analysis of glucose and insulin. We defined a low risk group based on the following protective factors: BMI <25 kg\\/m2; waist-hip ratio (WHR) <0.85 for women and <0.90 for men; never smoking status; participants with medium to high levels of physical activity; light alcohol consumption (3.5-7 units of alcohol\\/week) and a "prudent" diet. Dietary patterns were assessed by cluster analysis. RESULTS: We found strong significant inverse associations between the number of protective factors and systolic blood pressure, diastolic blood pressure and dyslipidemia. The prevalence odds ratio of hypertension in persons with 1, 2, 3, > or = 4 protective factors relative to those with none, were 1.0, 0.76, 0.68 and 0.34 (trend p < 0.01). The prevalence odds ratio of dyslipidemia in persons with 1, 2, 3, > or = 4 protective factors relative to those with none were 0.83, 0.98, 0.49 and 0.24 (trend p = 0.001). CONCLUSION: Our findings of a strong inverse association between low risk behaviours and two of the traditional risk factors for CVD highlight the importance of \\'the causes of the causes\\' and the potential for behaviour modification in CVD prevention

  5. High-Intensity Interval Training as a Tool for Counteracting Dyslipidemia in Women.

    Science.gov (United States)

    Alvarez, Cristian; Ramirez-Campillo, Rodrigo; Martinez-Salazar, Cristian; Castillo, Angélica; Gallardo, Francisco; Ciolac, Emmanuel Gomes

    2018-05-01

    Sedentary overweight or obese adult (agehigh-intensity interval training (HIIT) program. Triglycerides reduced significantly ( P high-density lipoprotein increased ( P body composition improved ( P <0.05) in all groups. The HIIT program was effective for restoring lipid profile of DYS and DYSHG, and fasting glucose of DYSHG to levels similar to those of CON, with a weekly time commitment 25% to 56% lower than the minimum recommended in current exercise guidelines. These findings suggest that HIIT may be a time-efficient intervention for counteracting dyslipidemia. © Georg Thieme Verlag KG Stuttgart · New York.

  6. [Epidemiology of atherogenic dyslipidemia in an urban area of the city of Barcelona].

    Science.gov (United States)

    Caballero Sarmiento, Rafael

    2014-01-01

    We performed a descriptive cross-sectional epidemiological study data on lipid profile and blood glucose of sample collected in 2021 consecutive and anonymous patients. We calculated the prevalence of atherogenic dyslipidemia by sex, according to several cutoff HDL cholesterol in women, and in the whole sample, and its association with diabetes. There is in the study selection bias, as it is performed in patients attending in a Primary Care Laboratory and not in a sample of the general population. Prevalence epidemiological data are therefore approximate and provisional. Copyright © 2013 Elsevier España, S.L. y SEA. All rights reserved.

  7. A risk allele for nicotine dependence in CHRNA5 is a protective allele for cocaine dependence.

    Science.gov (United States)

    Grucza, Richard A; Wang, Jen C; Stitzel, Jerry A; Hinrichs, Anthony L; Saccone, Scott F; Saccone, Nancy L; Bucholz, Kathleen K; Cloninger, C Robert; Neuman, Rosalind J; Budde, John P; Fox, Louis; Bertelsen, Sarah; Kramer, John; Hesselbrock, Victor; Tischfield, Jay; Nurnberger, John I; Almasy, Laura; Porjesz, Bernice; Kuperman, Samuel; Schuckit, Marc A; Edenberg, Howard J; Rice, John P; Goate, Alison M; Bierut, Laura J

    2008-12-01

    A nonsynonymous coding polymorphism, rs16969968, of the CHRNA5 gene that encodes the alpha-5 subunit of the nicotinic acetylcholine receptor (nAChR) has been found to be associated with nicotine dependence. The goal of this study was to examine the association of this variant with cocaine dependence. Genetic association analysis was performed in two independent samples of unrelated case and control subjects: 1) 504 European Americans participating in the Family Study on Cocaine Dependence (FSCD) and 2) 814 European Americans participating in the Collaborative Study on the Genetics of Alcoholism (COGA). In the FSCD, there was a significant association between the CHRNA5 variant and cocaine dependence (odds ratio = .67 per allele, p = .0045, assuming an additive genetic model), but in the reverse direction compared with that previously observed for nicotine dependence. In multivariate analyses that controlled for the effects of nicotine dependence, both the protective effect for cocaine dependence and the previously documented risk effect for nicotine dependence were statistically significant. The protective effect for cocaine dependence was replicated in the COGA sample. In COGA, effect sizes for habitual smoking, a proxy phenotype for nicotine dependence, were consistent with those observed in FSCD. The minor (A) allele of rs16969968, relative to the major G allele, appears to be both a risk factor for nicotine dependence and a protective factor for cocaine dependence. The biological plausibility of such a bidirectional association stems from the involvement of nAChRs with both excitatory and inhibitory modulation of dopamine-mediated reward pathways.

  8. Tracking human migrations by the analysis of the distribution of HLA alleles, lineages and haplotypes in closed and open populations

    Science.gov (United States)

    Vina, Marcelo A. Fernandez; Hollenbach, Jill A.; Lyke, Kirsten E.; Sztein, Marcelo B.; Maiers, Martin; Klitz, William; Cano, Pedro; Mack, Steven; Single, Richard; Brautbar, Chaim; Israel, Shosahna; Raimondi, Eduardo; Khoriaty, Evelyne; Inati, Adlette; Andreani, Marco; Testi, Manuela; Moraes, Maria Elisa; Thomson, Glenys; Stastny, Peter; Cao, Kai

    2012-01-01

    The human leucocyte antigen (HLA) system shows extensive variation in the number and function of loci and the number of alleles present at any one locus. Allele distribution has been analysed in many populations through the course of several decades, and the implementation of molecular typing has significantly increased the level of diversity revealing that many serotypes have multiple functional variants. While the degree of diversity in many populations is equivalent and may result from functional polymorphism(s) in peptide presentation, homogeneous and heterogeneous populations present contrasting numbers of alleles and lineages at the loci with high-density expression products. In spite of these differences, the homozygosity levels are comparable in almost all of them. The balanced distribution of HLA alleles is consistent with overdominant selection. The genetic distances between outbred populations correlate with their geographical locations; the formal genetic distance measurements are larger than expected between inbred populations in the same region. The latter present many unique alleles grouped in a few lineages consistent with limited founder polymorphism in which any novel allele may have been positively selected to enlarge the communal peptide-binding repertoire of a given population. On the other hand, it has been observed that some alleles are found in multiple populations with distinctive haplotypic associations suggesting that convergent evolution events may have taken place as well. It appears that the HLA system has been under strong selection, probably owing to its fundamental role in varying immune responses. Therefore, allelic diversity in HLA should be analysed in conjunction with other genetic markers to accurately track the migrations of modern humans. PMID:22312049

  9. Allelic diversity of the MHC class II DRB genes in brown bears (Ursus arctos) and a comparison of DRB sequences within the family Ursidae.

    Science.gov (United States)

    Goda, N; Mano, T; Kosintsev, P; Vorobiev, A; Masuda, R

    2010-11-01

    The allelic diversity of the DRB locus in major histocompatibility complex (MHC) genes was analyzed in the brown bear (Ursus arctos) from the Hokkaido Island of Japan, Siberia, and Kodiak of Alaska. Nineteen alleles of the DRB exon 2 were identified from a total of 38 individuals of U. arctos and were highly polymorphic. Comparisons of non-synonymous and synonymous substitutions in the antigen-binding sites of deduced amino acid sequences indicated evidence for balancing selection on the bear DRB locus. The phylogenetic analysis of the DRB alleles among three genera (Ursus, Tremarctos, and Ailuropoda) in the family Ursidae revealed that DRB allelic lineages were not separated according to species. This strongly shows trans-species persistence of DRB alleles within the Ursidae. © 2010 John Wiley & Sons A/S.

  10. Dyslipidemia Screening of 9- to 11-Year-Olds at Well-Child Visits by Utah Pediatricians.

    Science.gov (United States)

    Stipelman, Carole; Young, Paul C; Hemond, Joni; Brown, Laura L; Mihalopoulos, Nicole L

    2017-12-01

    In 2011, an expert National Institutes of Health panel published the "Integrated Guidelines for CV Health and Risk Reduction in Children and Adolescents," which recommended screening all children aged 9 to 11 years for dyslipidemia. It is unknown if this guideline is being followed. We surveyed members of the Utah chapter of the American Academy of Pediatrics to determine whether they performed universal lipid screening at well-child visits (WCV) on their patients at 9,10, or 11 years and how comfortable they were with evaluating and/or managing children with dyslipidemia. Of the 118 respondents who practiced primary care, only 18 (15%) screened all children at WCV; 86 (73%) tested "some," most commonly children who were obese or had a positive family history. 18% were unfamiliar with the guidelines; 28% were familiar with the guidelines but felt they were "inappropriate;" 98 (84%) of the respondents said they were "very or somewhat comfortable" evaluating children with dyslipidemia.

  11. Simultaneous SNP identification and assessment of allele-specific bias from ChIP-seq data

    Directory of Open Access Journals (Sweden)

    Ni Yunyun

    2012-09-01

    Full Text Available Abstract Background Single nucleotide polymorphisms (SNPs have been associated with many aspects of human development and disease, and many non-coding SNPs associated with disease risk are presumed to affect gene regulation. We have previously shown that SNPs within transcription factor binding sites can affect transcription factor binding in an allele-specific and heritable manner. However, such analysis has relied on prior whole-genome genotypes provided by large external projects such as HapMap and the 1000 Genomes Project. This requirement limits the study of allele-specific effects of SNPs in primary patient samples from diseases of interest, where complete genotypes are not readily available. Results In this study, we show that we are able to identify SNPs de novo and accurately from ChIP-seq data generated in the ENCODE Project. Our de novo identified SNPs from ChIP-seq data are highly concordant with published genotypes. Independent experimental verification of more than 100 sites estimates our false discovery rate at less than 5%. Analysis of transcription factor binding at de novo identified SNPs revealed widespread heritable allele-specific binding, confirming previous observations. SNPs identified from ChIP-seq datasets were significantly enriched for disease-associated variants, and we identified dozens of allele-specific binding events in non-coding regions that could distinguish between disease and normal haplotypes. Conclusions Our approach combines SNP discovery, genotyping and allele-specific analysis, but is selectively focused on functional regulatory elements occupied by transcription factors or epigenetic marks, and will therefore be valuable for identifying the functional regulatory consequences of non-coding SNPs in primary disease samples.

  12. Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation.

    Science.gov (United States)

    Paliwal, Anupam; Temkin, Alexis M; Kerkel, Kristi; Yale, Alexander; Yotova, Iveta; Drost, Natalia; Lax, Simon; Nhan-Chang, Chia-Ling; Powell, Charles; Borczuk, Alain; Aviv, Abraham; Wapner, Ronald; Chen, Xiaowei; Nagy, Peter L; Schork, Nicholas; Do, Catherine; Torkamani, Ali; Tycko, Benjamin

    2013-08-01

    Allele-specific DNA methylation (ASM) is well studied in imprinted domains, but this type of epigenetic asymmetry is actually found more commonly at non-imprinted loci, where the ASM is dictated not by parent-of-origin but instead by the local haplotype. We identified loci with strong ASM in human tissues from methylation-sensitive SNP array data. Two index regions (bisulfite PCR amplicons), one between the C3orf27 and RPN1 genes in chromosome band 3q21 and the other near the VTRNA2-1 vault RNA in band 5q31, proved to be new examples of imprinted DMRs (maternal alleles methylated) while a third, between STEAP3 and C2orf76 in chromosome band 2q14, showed non-imprinted haplotype-dependent ASM. Using long-read bisulfite sequencing (bis-seq) in 8 human tissues we found that in all 3 domains the ASM is restricted to single differentially methylated regions (DMRs), each less than 2kb. The ASM in the C3orf27-RPN1 intergenic region was placenta-specific and associated with allele-specific expression of a long non-coding RNA. Strikingly, the discrete DMRs in all 3 regions overlap with binding sites for the insulator protein CTCF, which we found selectively bound to the unmethylated allele of the STEAP3-C2orf76 DMR. Methylation mapping in two additional genes with non-imprinted haplotype-dependent ASM, ELK3 and CYP2A7, showed that the CYP2A7 DMR also overlaps a CTCF site. Thus, two features of imprinted domains, highly localized DMRs and allele-specific insulator occupancy by CTCF, can also be found in chromosomal domains with non-imprinted ASM. Arguing for biological importance, our analysis of published whole genome bis-seq data from hES cells revealed multiple genome-wide association study (GWAS) peaks near CTCF binding sites with ASM.

  13. Pyramiding genes and alleles for improving energy cane biomass yield

    Energy Technology Data Exchange (ETDEWEB)

    Ming, Ray [University of Illinois at Urbana-Champaign; Nagai, Chifumi [Hawaii Agriculture Research Center; Yu, Qingyi [Texas A & M AgriLife Research

    2018-03-23

    The overall goal of this project is to identify genes and gene interaction networks contributed to the extreme segregants with 30 folds biomass yield difference in sugarcane F2 populations. Towards achieving this goal, yield trials of 108 F2 extreme segregants from S. officinarum LA Purple and S. robustum MOL5829 (LM population) were carried out in two locations in three years. A yield trial of the second F2 population from S. officinarum LA Purple and S. spontaneum US56-14-4 (LU population) was installed in the summer of 2014 and the first set of yield component data was collected. For genotyping, transcriptomes from leaves and stalks of 70 extreme segregants of the LM F2 population and 119 individuals of the LU F2 populations were sequenced. The genomes of 91 F1 individuals from the LM populations are being sequenced to construct ultra-high density genetic maps for each of the two parents for both assisting the LA Purple genome assembling and for testing a hypothesis of female restitution. The genomes of 110 F2 individuals from single F1 in the LU population, a different set from the 119 F2 individuals used for transcriptome sequencing, are being sequenced for mapping genes and QTLs affecting biomass yield and for testing a hypothesis of female restitution. Gene expression analysis between extreme segregants of high and low biomass yield showed up-regulation of cellulose synthase, cellulose, and xylan synthase in high biomass yield segregants among 3,274 genes differentially expressed between the two extremes. Our transcriptome results revealed not only the increment of cell wall biosynthesis pathway is essential, but the rapid turnover of certain cell wall polymers as well as carbohydrate partitioning are also important for recycling and energy conservation during rapid cell growth in high biomass sugarcane. Seventeen differentially expressed genes in auxin, one in ethylene and one in gibberellin related signaling and biosynthesis pathways were identified, which

  14. Prediction of Adult Dyslipidemia Using Genetic and Childhood Clinical Risk Factors: The Cardiovascular Risk in Young Finns Study.

    Science.gov (United States)

    Nuotio, Joel; Pitkänen, Niina; Magnussen, Costan G; Buscot, Marie-Jeanne; Venäläinen, Mikko S; Elo, Laura L; Jokinen, Eero; Laitinen, Tomi; Taittonen, Leena; Hutri-Kähönen, Nina; Lyytikäinen, Leo-Pekka; Lehtimäki, Terho; Viikari, Jorma S; Juonala, Markus; Raitakari, Olli T

    2017-06-01

    Dyslipidemia is a major modifiable risk factor for cardiovascular disease. We examined whether the addition of novel single-nucleotide polymorphisms for blood lipid levels enhances the prediction of adult dyslipidemia in comparison to childhood lipid measures. Two thousand four hundred and twenty-two participants of the Cardiovascular Risk in Young Finns Study who had participated in 2 surveys held during childhood (in 1980 when aged 3-18 years and in 1986) and at least once in a follow-up study in adulthood (2001, 2007, and 2011) were included. We examined whether inclusion of a lipid-specific weighted genetic risk score based on 58 single-nucleotide polymorphisms for low-density lipoprotein cholesterol, 71 single-nucleotide polymorphisms for high-density lipoprotein cholesterol, and 40 single-nucleotide polymorphisms for triglycerides improved the prediction of adult dyslipidemia compared with clinical childhood risk factors. Adjusting for age, sex, body mass index, physical activity, and smoking in childhood, childhood lipid levels, and weighted genetic risk scores were associated with an increased risk of adult dyslipidemia for all lipids. Risk assessment based on 2 childhood lipid measures and the lipid-specific weighted genetic risk scores improved the accuracy of predicting adult dyslipidemia compared with the approach using only childhood lipid measures for low-density lipoprotein cholesterol (area under the receiver-operating characteristic curve 0.806 versus 0.811; P =0.01) and triglycerides (area under the receiver-operating characteristic curve 0.740 versus area under the receiver-operating characteristic curve 0.758; P dyslipidemia in adulthood. © 2017 American Heart Association, Inc.

  15. The loss-of-allele assay for ES cell screening and mouse genotyping.

    Science.gov (United States)

    Frendewey, David; Chernomorsky, Rostislav; Esau, Lakeisha; Om, Jinsop; Xue, Yingzi; Murphy, Andrew J; Yancopoulos, George D; Valenzuela, David M

    2010-01-01

    Targeting vectors used to create directed mutations in mouse embryonic stem (ES) cells consist, in their simplest form, of a gene for drug selection flanked by mouse genomic sequences, the so-called homology arms that promote site-directed homologous recombination between the vector and the target gene. The VelociGene method for the creation of targeted mutations in ES cells employs targeting vectors, called BACVecs, that are based on bacterial artificial chromosomes. Compared with conventional short targeting vectors, BacVecs provide two major advantages: (1) their much larger homology arms promote high targeting efficiencies without the need for isogenicity or negative selection strategies; and (2) they enable deletions and insertions of up to 100kb in a single targeting event, making possible gene-ablating definitive null alleles and other large-scale genomic modifications. Because of their large arm sizes, however, BACVecs do not permit screening by conventional assays, such as long-range PCR or Southern blotting, that link the inserted targeting vector to the targeted locus. To exploit the advantages of BACVecs for gene targeting, we inverted the conventional screening logic in developing the loss-of-allele (LOA) assay, which quantifies the number of copies of the native locus to which the mutation was directed. In a correctly targeted ES cell clone, the LOA assay detects one of the two native alleles (for genes not on the X or Y chromosome), the other allele being disrupted by the targeted modification. We apply the same principle in reverse as a gain-of-allele assay to quantify the copy number of the inserted targeting vector. The LOA assay reveals a correctly targeted clone as having lost one copy of the native target gene and gained one copy of the drug resistance gene or other inserted marker. The combination of these quantitative assays makes LOA genotyping unequivocal and amenable to automated scoring. We use the quantitative polymerase chain reaction

  16. Omega-3 carboxylic acids monotherapy and combination with statins in the management of dyslipidemia

    Directory of Open Access Journals (Sweden)

    Benes LB

    2016-12-01

    Full Text Available Lane B Benes1, Nikhil S Bassi2, Michael H Davidson1 1Department of Medicine, Section of Cardiology, 2Department of Medicine, University of Chicago, Chicago, IL, USA Abstract: The 2013 American College of Cardiology/American Heart Association guidelines on cholesterol management placed greater emphasis on statin therapy given the well-established benefits in primary and secondary prevention of cardiovascular disease. Residual risk may remain after statin initiation, in part because of triglyceride-rich lipoprotein cholesterol. Several large trials have failed to show benefit with non-statin cholesterol-lowering medications in the reduction of cardiovascular events. Yet, subgroup analyses showed a benefit in those with hypertriglyceridemia and lower high-density lipoprotein cholesterol level, a high-risk pattern of dyslipidemia. This review discusses the benefits of omega-3 carboxylic acids, a recently approved formulation of omega-3 fatty acid with enhanced bioavailability, in the treatment of dyslipidemia both as monotherapy and combination therapy with a statin. Keywords: omega-3 carboxylic acids, non-HDL-C, hypertriglyceridemia, residual risk, statin

  17. Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspects.

    Science.gov (United States)

    Montali, Anna; Truglio, Gessica; Martino, Francesco; Ceci, Fabrizio; Ferraguti, Giampiero; Ciociola, Ester; Maranghi, Marianna; Gianfagna, Francesco; Iacoviello, Licia; Strom, Roberto; Lucarelli, Marco; Arca, Marcello

    2015-01-01

    The precursors of atherogenic dyslipidemia (AD) are not well defined. Therefore, we investigated 62 non-obese, non-diabetic AD and 221 normolipemic children. Anthropometric parameters, blood pressure and biochemical measures were obtained in index children, their parents and all available siblings. The heritability (h(2)) of anthropometric and biochemical traits was estimated by SOLAR. Rare and common variants in APOA1 and LPL genes were screened by re-sequencing. Compared to normolipemic, AD children showed increased body mass index, waist circumference, plasma glucose, insulin, ApoB, HOMA-IR, hs-CRP and lower adiponectin (pchildren (0.073 vs. 0.026; P=0.038). The LPL p.S447* gain-of-function mutation, resulted to be less frequent in AD than in control children (0.064 vs. 0.126; P=0.082). No variant in the APOA1 gene was found. Our data indicate that AD is a rather common dyslipidemia in childhood; it associates with metabolic abnormalities typical of insulin resistant state and shows a strong familial aggregation. LPL variants may contribute to the development of AD phenotype.

  18. Dyslipidemia alters sperm maturation and capacitation in LXR-null mice.

    Science.gov (United States)

    Whitfield, M; Guiton, R; Rispal, J; Acar, N; Kocer, A; Drevet, J R; Saez, F

    2017-12-01

    Lipid metabolism disorders (dyslipidemia) are causes of male infertility, but little is known about their impact on male gametes when considering post-testicular maturation events, given that studies concentrate most often on endocrine dysfunctions and testicular consequences. In this study, three-month-old wild-type ( wt ) and Liver-X-Receptors knock out ( Lxrα;β - / - ) males were fed four weeks with a control or a lipid-enriched diet containing 1.25% cholesterol (high cholesterol diet (HCD)). The HCD triggered a dyslipidemia leading to sperm post-testicular alterations and infertility. Sperm lipids were analyzed by LC-MS and those from Lxrα;β - / - males fed the HCD showed higher chol/PL and PC/PE ratios compared to wt -HCD ( P  pump (PMCA4) was decreased in Lxrα;β - / - males fed the HCD ( P  fertility prognostic markers in this pathophysiological situation, which could help clinicians to better understand male infertilities which are thus far classified as idiopathic. © 2017 Society for Reproduction and Fertility.

  19. Association of circulating adipokines with metabolic dyslipidemia in obese versus non-obese individuals.

    Science.gov (United States)

    Rahimlou, Mehran; Mirzaei, Khadijeh; Keshavarz, Seyed Ali; Hossein-Nezhad, Arash

    2016-01-01

    Previous studies have shown that circulating adipokines may play an important role in the pathogenesis of some obesity related chronic disease such as dyslipidemia and type2 diabetes mellitus. The aim of the present study was to investigate the association between vaspin, omentin-1 and retinol binding protein-4 levels with metabolic dyslipidemia (MD) criteria in obese and non-obese individuals. The study was conducted on 170 obese and 81 non-obese individuals. After collecting the blood samples, serum levels metabolic parameters as well as three circulating adipokines and body composition were measured. No significant difference was noted regarding the mean serum levels of omentin-1 and vaspin between the obese and non-obese groups, while, serum level of RBP4 was significantly higher in the non-obese group. We found the 0.22 increased risk of MD in obese individuals with higher RBP4 concentration. After the adjustment for confounding factors, this association was still significant. No significant association was noted between MD and its components relative risks with omentin-1 and vaspin levels. Our study demonstrated that circulating RBP4 was significantly higher in the obese individuals which may increase the risk of MD in them. Further researches are needed to address this association. Copyright © 2015 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  20. Multiple Avirulence Loci and Allele-Specific Effector Recognition Control the Pm3 Race-Specific Resistance of Wheat to Powdery Mildew[OPEN

    Science.gov (United States)

    Roffler, Stefan; Stirnweis, Daniel; Treier, Georges; Herren, Gerhard; Korol, Abraham B.; Wicker, Thomas

    2015-01-01

    In cereals, several mildew resistance genes occur as large allelic series; for example, in wheat (Triticum aestivum and Triticum turgidum), 17 functional Pm3 alleles confer agronomically important race-specific resistance to powdery mildew (Blumeria graminis). The molecular basis of race specificity has been characterized in wheat, but little is known about the corresponding avirulence genes in powdery mildew. Here, we dissected the genetics of avirulence for six Pm3 alleles and found that three major Avr loci affect avirulence, with a common locus_1 involved in all AvrPm3-Pm3 interactions. We cloned the effector gene AvrPm3a2/f2 from locus_2, which is recognized by the Pm3a and Pm3f alleles. Induction of a Pm3 allele-dependent hypersensitive response in transient assays in Nicotiana benthamiana and in wheat demonstrated specificity. Gene expression analysis of Bcg1 (encoded by locus_1) and AvrPm3 a2/f2 revealed significant differences between isolates, indicating that in addition to protein polymorphisms, expression levels play a role in avirulence. We propose a model for race specificity involving three components: an allele-specific avirulence effector, a resistance gene allele, and a pathogen-encoded suppressor of avirulence. Thus, whereas a genetically simple allelic series controls specificity in the plant host, recognition on the pathogen side is more complex, allowing flexible evolutionary responses and adaptation to resistance genes. PMID:26452600

  1. Supplementation with an insoluble fiber obtained from carob pod (Ceratonia siliqua L.) rich in polyphenols prevents dyslipidemia in rabbits through SIRT1/PGC-1α pathway.

    Science.gov (United States)

    Valero-Muñoz, María; Ballesteros, Sandra; Ruiz-Roso, Baltasar; Pérez-Olleros, Lourdes; Martín-Fernández, Beatriz; Lahera, Vicente; de Las Heras, Natalia

    2017-12-22

    To investigate the mechanism implicated in the effect of an insoluble fiber (obtained from carob pod) rich in polyphenols (IFCP) in lipid metabolism in the liver. Male New Zealand rabbits were fed with the following diets for 8 weeks: control diet (CT group), dyslipidemic diet supplemented with 0.5% cholesterol + 14% coconut oil (DL group) and dyslipidemic diet containing 0.5% cholesterol + 14% coconut oil plus 3% IFCP (DL + IFCP group). Dyslipidemic diet with IFCP was able to reduce development of mixed dyslipidemia, liver relative weight and collagen I protein expression compared to DL rabbits. Analyses of the main enzymes implicated in cholesterol and triglycerides metabolism revealed that IFCP increased hepatic concentration of 3-hydroxy-3-methylglutaryl-CoA reductase (HMG-CoA reductase) and cytochrome P450, family 7, subfamily a, polypeptide 1C (CYP7A1) (82.34, 114.42%, respectively) as well as protein expression of LDL receptor (42.48%) in DL rabbits. Importantly, IFCP also increased hepatic lipase (HL) levels (91.43%) and decreased glycerol phosphate acyltransferase (GPAT) and sterol regulatory element-binding protein 1C (SREBP1c) liver expression levels (20.38 and 41.20%, respectively). Finally, sirtuin 1 (SIRT1) and peroxisome proliferator-activated receptor gamma coactivator-1alpha (PGC-1α) hepatic expression increased in DL + IFCP group compared with DL (159.81 and 48.00%, respectively). These findings show that IFCP is able to abrogate the deleterious effects of hepatic dyslipidemia by modulating SIRT1 and PGC-1α pathways.

  2. Hibiscus sabdariffa calyx palliates insulin resistance, hyperglycemia, dyslipidemia and oxidative rout in fructose-induced metabolic syndrome rats.

    Science.gov (United States)

    Ajiboye, Taofeek O; Raji, Hikmat O; Adeleye, Abdulwasiu O; Adigun, Nurudeen S; Giwa, Oluwayemisi B; Ojewuyi, Oluwayemisi B; Oladiji, Adenike T

    2016-03-30

    The effect of Hibiscus sabdariffa calyx extract was evaluated in high-fructose-induced metabolic syndrome rats. Insulin resistance, hyperglycemia, dyslipidemia and oxidative rout were induced in rats using high-fructose diet. High-fructose diet-fed rats were administered 100 and 200 mg kg(-1) body weight of H. sabdariffa extract for 3 weeks, starting from week 7 of high-fructose diet treatment. High-fructose diet significantly (P Hibiscus extract. Overall, aqueous extract of H. sabdariffa palliates insulin resistance, hyperglycemia, dyslipidemia and oxidative rout in high-fructose-induced metabolic syndrome rats. © 2015 Society of Chemical Industry.

  3. Plasma vitamin D and parathormone are associated with obesity and atherogenic dyslipidemia: a cross-sectional study

    Directory of Open Access Journals (Sweden)

    Guasch Alba

    2012-12-01

    Full Text Available Abstract Background Low concentrations of plasma vitamin D (25(OHD have been associated with the development of metabolic syndrome (MetS, obesity, diabetes and cardiovascular disease. The objective of this study was to quantify the associations between 25(OHD and parathormone (PTH plasma levels and obesity, the presence of MetS, diabetes or atherogenic dyslipidemia (AD in a large sample of individuals with different degrees of adiposity. Methods Retrospective study of all patients who had attended the obesity clinics in a Spanish hospital between 2009 and 2011, and whose concentrations of PTH, 25(OHD, calcium and alkaline phosphatase had been determined (n=316, 75.9% women. Individuals were categorized by degree of adiposity, presence of MetS, and other comorbidities. Results PTH increased but 25(OHD and calcium decreased with increasing adiposity. The prevalence of 25(OHD deficiency or insufficiency increased with obesity (2, and 26% when >50. The prevalence of hyperparathyroidism increased from 12% in non-obese to 47.5% in morbidly obese individuals with BMI>50 kg/m2. Low plasma 25(OHD and high PTH concentrations were associated with an increased risk of MetS and AD. These associations disappeared, except in the case of AD for 25(OHD when adjusting for BMI. Regression analysis revealed that BMI and age or seasonality were independent predictors of PTH and 25(OHD levels, respectively. Conclusions BMI was the variable most strongly associated with plasma 25(OHD and PTH concentrations in our study. Low 25(OHD and high PTH concentrations were not independently associated with an increased risk of MetS, or diabetes. Our data support a possible contribution of plasma 25(OHD to the pathogenesis of hypertriglyceridemia and AD through inflammation.

  4. Systems genetics identifies a co-regulated module of liver microRNAs associated with plasma LDL cholesterol in murine diet-induced dyslipidemia

    Science.gov (United States)

    Chronically altered levels of circulating lipids, termed dyslipidemia, is a significant risk factor for a number of metabolic and cardiovascular morbidities. MicroRNAs (miRNAs) have emerged as important regulators of lipid balance, have been implicated in dyslipidemia, and have been proposed as cand...

  5. Association between ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133), FTO (rs9939609) Genes Polymorphism and Type 2 Diabetes with Dyslipidemia.

    Science.gov (United States)

    Raza, Syed Tasleem; Abbas, Shania; Siddiqi, Zeba; Mahdi, Farzana

    2017-01-01

    Diabetic dyslipidemia is one of the leading causes of coronary artery disease (CAD) death. Genetic and environmental factors play an important role in the development of type 2 diabetes mellitus (T2DM) and dyslipidemia. The present study was aimed to investigate the association of ACE (rs4646994), FABP2 (rs1799883), MTHFR (rs1801133) and FTO (rs9939609) genes polymorphism in T2DM with dyslipidemia. Totally, 559 subjects including 221 T2DM cases with dyslipidemia, 158 T2DM without dyslipidemia and 180 controls were enrolled. ACE genes polymorphism was evaluated by polymerase chain reaction (PCR), while MTHFR , FABP2 , FTO genes polymorphisms were evaluated by PCR and restriction fragment length polymorphism (RFLP). Significant association of ACE and MTHFR genes polymorphisms were found in both group of cases [T2DM with dyslipidemia (Pgenes polymorphisms were significantly associated with T2DM without dyslipidemia (P=0.038, and P= 0.019, respectively). This study concludes that ACE , FABP2 , FTO and MTHFR genes are associated with T2DM. Additionally, it also seems that ACE and MTHFR genes might be further associated with the development of dyslipidemia in T2DM cases.

  6. Fetal and infant exposure to severe Chinese famine increases the risk of adult dyslipidemia: Results from the China health and retirement longitudinal study.

    Science.gov (United States)

    Wang, Zhenghe; Li, Changwei; Yang, Zhongping; Ma, Jun; Zou, Zhiyong

    2017-06-14

    To explore the associations between the Chinese famine exposure in early life and the dyslipidemia in adulthood. We selected 2752 participants from the baseline survey of China Health and Retirement Longitudinal Study (CHARLS) 2011-2012 to evaluate the associations of early life the Chinese famine exposure with risk of dyslipidemia in adulthood. Dyslipidemia was defined as TC (Total Cholesterol): HDL-C (High-Density Lipoprotein Cholesterol) ratio ≥ 5.0 or use cholesterol lowering drugs. Famine exposure cohorts were categorized by birthdates of participants. Binary logistics regression model was used to examine the associations of early-life famine exposure with the risk of dyslipidemia. The dyslipidemia prevalence of the non-exposed cohort, fetal stage-, infant stage-, and preschool stage-exposed cohorts in adulthood was 15.7%, 23.1%, 22.0%, and 18.6%, respectively. Early-life exposure to the Chinese famine significantly increased LDL cholesterol concentrations in adulthood after adjusted for age. The risks of dyslipidemia in fetal (OR = 1.58; 95% CI: 1.23-2.03; P dyslipidemia in female adults. However, the similar association was not observed for male adults. Early-life exposure to severe Chinese famine could link with the higher dyslipidemia risk in female adulthood, but not in male adulthood. This gender-specific effect might be associated with the hypothesis that parents in China prefer boys to girls traditionally or survivors' bias.

  7. Frequency of the GPR7 Tyr135Phe allelic variant in lean and obese subjects.

    Science.gov (United States)

    Pelosini, C; Maffei, M; Ceccarini, G; Marchi, M; Marsili, A; Galli, G; Scartabelli, G; Tamberi, A; Latrofa, F; Fierabracci, P; Vitti, P; Pinchera, A; Santini, F

    2013-10-01

    GPR7, the endogenous coupled receptor for neuropeptide B and neuropeptide W, is expressed in several regions of the central nervous system, which are involved in the regulation of feeding behavior. GPR7 affects the regulation of energy balance through a mechanism independent of leptin and melanocortin pathways. Aim of this study was to investigate whether GPR7 gene mutations can be detected in human subjects and, in that event, if they are differently distributed among lean and obese subjects. The coding region of GPR7 were sequenced in 150 obese patients and 100 normal-weight unrelated controls. Functional studies of the allelic variants were performed. One genetic GPR7 variant was found (Tyr135Phe - rs33977775) in obese subjects (13.3%) and lean control (25%). Functional studies did not reveal significant differences between the wild type and the Tyr135Phe allelic variants in their NPW-mediated capacity to inhibit forskolin-induced cAMP production. Screening of GPR7 gene mutations among lean and obese subjects revealed a Tyr135Phe allelic variant that was fairly common in the study population. As indicated by in vitro and in silico studies, this variant is unlikely to cause a functional derangement of the receptor.

  8. Mannose-binding lectin variant alleles and HLA-DR4 alleles are associated with giant cell arteritis

    DEFF Research Database (Denmark)

    Jacobsen, Soren; Baslund, Bo; Madsen, Hans O.

    2002-01-01

    /GCA, MBL variant alleles were associated with signs of increased inflammatory activity and clinical signs of arteritic manifestations. This was not found for HLA-DR4 alleles. These findings indicate that HLA-DR4 and MBL are contributing to the pathophysiology of GCA at different levels in the disease...... alleles in controls, patients with PMR only, and patients with GCA was 37, 32, and 53% (p = 0.01), respectively. HLA-DRB1*04 was found in 47% of patients with PMR only and in 54% of patients with GCA, which differed significantly from the 35% found in controls (p = 0.01). HLA-DR4 alleles were...... not associated with any clinical phenotypes of PMR/GCA, whereas MBL variant alleles were associated with cranial arteritis, high erythrocyte sedimentation rate, and low B-hemoglobin. CONCLUSION: We found MBL variant alleles and HLA-DR4 alleles to be weak susceptibility markers for GCA. In patients with PMR...

  9. Attenuated Expression of DFFB is a Hallmark of Oligodendrogliomas with 1p-Allelic Loss

    Directory of Open Access Journals (Sweden)

    Fuller Gregory N

    2005-09-01

    Full Text Available Abstract Allelic loss of chromosome 1p is frequently observed in oligodendroglioma. We screened 177 oligodendroglial tumors for 1p deletions and found 6 tumors with localized 1p36 deletions. Several apoptosis regulation genes have been mapped to this region, including Tumor Protein 73 (p73, DNA Fragmentation Factor subunits alpha (DFFA and beta (DFFB, and Tumor Necrosis Factor Receptor Superfamily Members 9 and 25 (TNFRSF9, TNFRSF25. We compared expression levels of these 5 genes in pairs of 1p-loss and 1p-intact tumors using quantitative reverse-transcriptase PCR (QRTPCR to test if 1p deletions had an effect on expression. Only the DFFB gene demonstrated decreased expression in all tumor pairs tested. Mutational analysis did not reveal DFFB mutations in 12 tested samples. However, it is possible that DFFB haploinsufficiency from 1p allelic loss is a contributing factor in oligodendroglioma development.

  10. allelic variation of hmw glutenin subunits of ethiopian bread wheat

    African Journals Online (AJOL)

    journal

    High molecular weight glutenins are often effective in identifying wheat (Triticum ... There were highly significant differences between genotypes and banding ... was without deliberate selection pressure towards high Glu-1 scoring alleles ...

  11. Association mapping and favorable QTL alleles for fiber quality traits ...

    Indian Academy of Sciences (India)

    A total of 201 markers were polymorphic and generated 394 ... identified favorable QTL alleles and typical accessions for fiber quality are excellent genetic resources for future cotton .... Field management followed respective local practices.

  12. Apolipoprotein e4 allele and cognitive decline in elderly men

    NARCIS (Netherlands)

    Feskens, E.J.M.; Havekes, L.M.; Kalmijn, S.; Knijff, P. de; Launer, L.J.; Kromhout, D.

    1994-01-01

    Objectives - To determine whether polymorphism of apolipoprotein E - notably, the e4 allele - predicts cognitive deterioration in the general population. Design - Population based cohort investigated in 1990 and in 1993. Setting - Zutphen, the Netherlands. Subjects - Representative cohort of 538

  13. Genomic Features That Predict Allelic Imbalance in Humans Suggest Patterns of Constraint on Gene Expression Variation

    Science.gov (United States)

    Fédrigo, Olivier; Haygood, Ralph; Mukherjee, Sayan; Wray, Gregory A.

    2009-01-01

    Variation in gene expression is an important contributor to phenotypic diversity within and between species. Although this variation often has a genetic component, identification of the genetic variants driving this relationship remains challenging. In particular, measurements of gene expression usually do not reveal whether the genetic basis for any observed variation lies in cis or in trans to the gene, a distinction that has direct relevance to the physical location of the underlying genetic variant, and which may also impact its evolutionary trajectory. Allelic imbalance measurements identify cis-acting genetic effects by assaying the relative contribution of the two alleles of a cis-regulatory region to gene expression within individuals. Identification of patterns that predict commonly imbalanced genes could therefore serve as a useful tool and also shed light on the evolution of cis-regulatory variation itself. Here, we show that sequence motifs, polymorphism levels, and divergence levels around a gene can be used to predict commonly imbalanced genes in a human data set. Reduction of this feature set to four factors revealed that only one factor significantly differentiated between commonly imbalanced and nonimbalanced genes. We demonstrate that these results are consistent between the original data set and a second published data set in humans obtained using different technical and statistical methods. Finally, we show that variation in the single allelic imbalance-associated factor is partially explained by the density of genes in the region of a target gene (allelic imbalance is less probable for genes in gene-dense regions), and, to a lesser extent, the evenness of expression of the gene across tissues and the magnitude of negative selection on putative regulatory regions of the gene. These results suggest that the genomic distribution of functional cis-regulatory variants in the human genome is nonrandom, perhaps due to local differences in evolutionary

  14. DRD4 dopamine receptor allelic diversity in various primate species

    Energy Technology Data Exchange (ETDEWEB)

    Adamson, M.; Higley, D. [NIAAA, Rockville, MD (United States); O`Brien, S. [NCI, Frederick, MD (United States)] [and others

    1994-09-01

    The DRD4 dopamine receptor is uniquely characterized by a 48 bp repeating segment within the coding region, located in exon III. Different DRD4 alleles are produced by the presence of additional 48 bp repeats, each of which adds 16 amino acids to the length of the 3rd intracytoplasmic loop of the receptor. The DRD4 receptor is therefore an intriguing candidate gene for behaviors which are influenced by dopamine function. In several human populations, DRD4 alleles with 2-8 and 10 repeats have previously been identified, and the 4 and 7 repeat alleles are the most abundant. We have determined DRD4 genotypes in the following nonhuman primate species: chimpanzee N=2, pygmy chimpanzee N=2, gorilla N=4, siamang N=2, Gelada baboon N=1, gibbon N=1, orangutan (Bornean and Sumatran) N=62, spider monkey N=4, owl monkey N=1, Colobus monkey N=1, Patas monkey N=1, ruffed lemur N=1, rhesus macaque N=8, and vervet monkey N=28. The degree of DRD4 polymorphism and which DRD4 alleles were present both showed considerable variation across primate species. In contrast to the human, rhesus macaque monkeys were monomorphic. The 4 and 7 repeat allels, highly abundant in the human, may not be present in certain other primates. For example, the four spider monkeys we studied showed the 7, 8 and 9 repeat length alleles and the only gibbon we analyzed was homozygous for the 9 repeat allele (thus far not observed in the human). Genotyping of other primate species and sequencing of the individual DRD4 repeat alleles in different species may help us determine the ancestral DRD4 repeat length and identify connections between DRD4 genotype and phenotype.

  15. Allele frequency distribution for 21 autosomal STR loci in Nepal.

    Science.gov (United States)

    Kraaijenbrink, T; van Driem, G L; Opgenort, J R M L; Tuladhar, N M; de Knijff, P

    2007-05-24

    The allele frequency distributions of 21 autosomal loci contained in the AmpFlSTR Identifiler, the Powerplex 16 and the FFFL multiplex PCR kits, was studied in 953 unrelated individuals from Nepal. Several new alleles (i.e. not yet reported in the NIST Short Tandem Repeat DNA Internet DataBase [http://www.cstl.nist.gov/biotech/strbase/]) have been detected in the process.

  16. Predictive capacity of anthropometric indicators for dyslipidemia screening in children and adolescents

    Directory of Open Access Journals (Sweden)

    Teresa Maria Bianchini de Quadros

    2015-09-01

    Full Text Available Objective: To analyze the predictive capacity of anthropometric indicators and their cut-off values for dyslipidemia screening in children and adolescents. Methods: This was a cross-sectional study involving 1139 children and adolescents, of both sexes, aged 6–18 years. Body weight, height, waist circumference, subscapular, and triceps skinfold thickness were measured. The body mass index and waist-to-height ratio were calculated. Children and adolescents exhibiting at least one of the following lipid alterations were defined as having dyslipidemia: elevated total cholesterol, low high-density lipoprotein, elevated low-density lipoprotein, and high triglyceride concentration. A receiver operating characteristic curve was constructed and the area under the curve, sensitivity, and specificity was calculated for the parameters analyzed. Results: The prevalence of dyslipidemia was 62.1%. The waist-to-height ratio, waist circumference, subscapular, body mass index, and triceps skinfold thickness, in this order, presented the largest number of significant accuracies, ranging from 0.59 to 0.78. The associations of the anthropometric indicators with dyslipidemia were stronger among adolescents than among children. Significant differences between accuracies of the anthropometric indicators were only observed by the end of adolescence; the accuracy of waist-to-height ratio was higher than that of subscapular (p = 0.048 for females, and the accuracy of waist circumference was higher than that of subscapular (p = 0.029 and body mass index (p = 0.012 for males. In general, the cut-off values of the anthropometric predictors of dyslipidemia increased with age, except for waist-to-height ratio. Sensitivity and specificity varied substantially between anthropometric indicators, ranging from 75.6 to 53.5 and from 75.0 to 50.0, respectively. Conclusions: The anthropometric indicators studied had little utility as screening tools for dyslipidemia

  17. ALEA: a toolbox for allele-specific epigenomics analysis.

    Science.gov (United States)

    Younesy, Hamid; Möller, Torsten; Heravi-Moussavi, Alireza; Cheng, Jeffrey B; Costello, Joseph F; Lorincz, Matthew C; Karimi, Mohammad M; Jones, Steven J M

    2014-04-15

    The assessment of expression and epigenomic status using sequencing based methods provides an unprecedented opportunity to identify and correlate allelic differences with epigenomic status. We present ALEA, a computational toolbox for allele-specific epigenomics analysis, which incorporates allelic variation data within existing resources, allowing for the identification of significant associations between epigenetic modifications and specific allelic variants in human and mouse cells. ALEA provides a customizable pipeline of command line tools for allele-specific analysis of next-generation sequencing data (ChIP-seq, RNA-seq, etc.) that takes the raw sequencing data and produces separate allelic tracks ready to be viewed on genome browsers. The pipeline has been validated using human and hybrid mouse ChIP-seq and RNA-seq data. The package, test data and usage instructions are available online at http://www.bcgsc.ca/platform/bioinfo/software/alea CONTACT: : mkarimi1@interchange.ubc.ca or sjones@bcgsc.ca Supplementary information: Supplementary data are available at Bioinformatics online. © The Author 2013. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  18. Allele-specific MMP-3 transcription under in vivo conditions

    Energy Technology Data Exchange (ETDEWEB)

    Chaoyong, Zhu [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Odeberg, Jacob [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Department of Biotechnology, AlbaNova University Center, Royal Institute of Technology, Stockholm (Sweden); Hamsten, Anders [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden); Eriksson, Per [Atherosclerosis Research Unit, King Gustav V Research Institute, Department of Medicine, Karolinska Institute, Stockholm (Sweden)

    2006-09-29

    A common matrix metalloproteinases-3 (MMP-3) -1612 5A/6A promoter polymorphism is associated with risk for cardiovascular disease, rheumatoid arthritis, and other diseases. Here we used the haplotype chromatin immunoprecipitation method to study allele-specific MMP-3 expression under in vivo conditions in heterozygous THP-1 cells. Pyrosequencing was used to analyse the ratio of 5A-allele to 6A-allele after chromatin immunoprecipitation using an antibody against phosphorylated active RNA polymerase II. There was no allele-specific difference in transcriptional activity during basal conditions, i.e., in unstimulated monocytic THP-1 cells. However, after stimulation of MMP-3 expression by monocyte differentiation or incubation with IL-1{beta}, the haplotype containing the 5A-allele was associated with higher transcriptional activity compared with the 6A-containing haplotype. Electromobility shift assay demonstrated increased binding of nuclear proteins to the 5A-allele after monocyte differentiation. In conclusion, the common MMP-3 5A/6A promoter polymorphism appears to be functional only during specific environmental conditions involving inflammation.

  19. Allelic Diversity and Geographical Distribution of the Gene Encoding Plasmodium falciparum Merozoite Surface Protein-3 in Thailand.

    Science.gov (United States)

    Sawaswong, Vorthon; Simpalipan, Phumin; Siripoon, Napaporn; Harnyuttanakorn, Pongchai; Pattaradilokrat, Sittiporn

    2015-04-01

    Merozoite surface proteins (MSPs) of malaria parasites play critical roles during the erythrocyte invasion and so are potential candidates for malaria vaccine development. However, because MSPs are often under strong immune selection, they can exhibit extensive genetic diversity. The gene encoding the merozoite surface protein-3 (MSP-3) of Plasmodium falciparum displays 2 allelic types, K1 and 3D7. In Thailand, the allelic frequency of the P. falciparum msp-3 gene was evaluated in a single P. falciparum population in Tak at the Thailand and Myanmar border. However, no study has yet looked at the extent of genetic diversity of the msp-3 gene in P. falciparum populations in other localities. Here, we genotyped the msp-3 alleles of 63 P. falciparum samples collected from 5 geographical populations along the borders of Thailand with 3 neighboring countries (Myanmar, Laos, and Cambodia). Our study indicated that the K1 and 3D7 alleles coexisted, but at different proportions in different Thai P. falciparum populations. K1 was more prevalent in populations at the Thailand-Myanmar and Thailand-Cambodia borders, whilst 3D7 was more prevalent at the Thailand-Laos border. Global analysis of the msp-3 allele frequencies revealed that proportions of K1 and 3D7 alleles of msp-3 also varied in different continents, suggesting the divergence of malaria parasite populations. In conclusion, the variation in the msp-3 allelic patterns of P. falciparum in Thailand provides fundamental knowledge for inferring the P. falciparum population structure and for the best design of msp-3 based malaria vaccines.

  20. ASSOCIATION BETWEEN RETINAL HARD EXUDATES AND DYSLIPIDEMIA IN TYPE 2 DIABETIC PATIENTS IN RURAL KARNATAKA

    Directory of Open Access Journals (Sweden)

    Arun Kumar B.

    2015-10-01

    Full Text Available AIM: To evaluate the association of elevated serum lipids with retinal hard exudates in type 2 diabetic patients in rural Karnataka. MATERIAL AND METHODS : Hospital based cross sectional study which included 60 (n=60 type 2 diabetic patients (60 eyes fulfilling the inclusion criteria. Patients were subjected to detailed ocular examination, fundus examination done under full dilatation using indirect ophth almoscope with 20D lens and slit lamp biomicroscope with 90D lens. Fundus photographs were obtained using fundus camera. Grading of retinal hard exudates performed by utilizing modified Airlie House classification. The modified Airlie House Classification used is as follows: Grade 0 - No evidence of hard exudates; Grade 1 : Questionable hard exudates present; Grade 2 : Hard exudates less than standard photograph 3; Grade 3 : Hard exudates greater than or equal to standard photograph 3, but less than standard p hotograph 5; Grade 4 : Hard exudates greater than or equal to standard photograph 5, but less than standard photograph 4 and Grade 5 : Hard exudates greater than or equal to standard photograph 4. These grades were further divided into three groups of patie nt severity as follows: Group 1 (absent or minimal hard exudates included patients with Grade 0, 1 or 2 hard exudates; Group 2 (hard exudates present included patients with Grade 3 or 4 hard exudates and Group 3 (prominent hard exudates included patient s with Grade 5 hard exudates. Fasting lipid profile including serum total cholesterol, low density lipoproteins, very low density lipoproteins, high density lipoproteins and triglycerides was obtained. Association of dyslipidemia with retinal hard exudates was analysed using one way ANOVA test. RESULTS: On statistical analysis with ANOVA test retinal hard exudates were significantly associated with elevated total cholesterol (p= .0001, triglycerides (p= .0001, serum LDL (p=.008, serum VLDL (p=.012, and negative correlation was found

  1. Major histocompatibility complex (MHC) class I and II alleles which confer susceptibility or protection in the Morphea in Adults and Children (MAC) cohort

    Science.gov (United States)

    Jacobe, Heidi; Ahn, Chul; Arnett, Frank; Reveille, John D.

    2014-01-01

    Objective To determine human leukocyte antigen class I (HLA-class I) and II (HLA-class II) alleles associated with morphea (localized scleroderma) in the Morphea in Adults and Children (MAC) cohort by a nested case–control association study. Methods Morphea patients were included from MAC cohort and matched controls from the NIH/NIAMS Scleroderma Family Registry and DNA Repository and Division of Rheumatology at the University of Texas Health Science Center at Houston. HLA- Class II genotyping and SSCP typing was performed of HLA-A, -B, -C alleles. Associations between HLA-Class I and II alleles and morphea as well as its subphenotypes were determined. Results There were 211 cases available for HLA-class I typing with 726 matched controls and 158 cases available for HLA Class-II typing with 1108 matched controls. The strongest associations were found with DRB1*04:04 (OR 2.3, 95% CI 1.4–4.0 P=0.002) and HLA-B*37 conferred the highest OR among Class I alleles (3.3, 95% CI 1.6–6.9, P= 0.0016). Comparison with risk alleles in systemic sclerosis determined using the same methods and control population revealed one common allele (DRB*04:04). Conclusion Results of the present study demonstrate specific HLA Class I and II alleles are associated with morphea and likely generalized and linear subtypes. The associated morphea alleles are different than in scleroderma, implicating morphea is also immunogenetically distinct. Risk alleles in morphea are also associated with conditions such as rheumatoid arthritis (RA) and other autoimmune conditions. Population based studies indicate patients with RA have increased risk of morphea, implicating a common susceptibility allele. PMID:25223600

  2. The dyslipidemia-associated SNP on the APOA1/C3/A5 gene cluster predicts post-surgery poor outcome in Taiwanese breast cancer patients: a 10-year follow-up study

    International Nuclear Information System (INIS)

    Hsu, Mei-Chi; Lee, Kuo-Ting; Hsiao, Wei-Chiang; Wu, Chih-Hsing; Sun, Hung-Yu; Lin, I-Ling; Young, Kung-Chia

    2013-01-01

    Post-surgery therapies are given to early-stage breast cancer patients due to the possibility of residual micrometastasis, and optimized by clincopathological parameters such as tumor stage, and hormone receptor/lymph node status. However, current efficacy of post-surgery therapies is unsatisfactory, and may be varied according to unidentified patient genetic factors. Increases of breast cancer occurrence and recurrence have been associated with dyslipidemia, which can attribute to other known risk factors of breast cancer including obesity, diabetes and metabolic syndrome. Thus we reasoned that dyslipidemia-associated nucleotide polymorphisms (SNPs) on the APOA1/C3/A5 gene cluster may predict breast cancer risk and tumor progression. We analyzed the distribution of 5 selected APOA1/C3/A5 SNPs in recruited Taiwanese breast cancer patients (n=223) and healthy controls (n=162). The association of SNP (APOA1 rs670) showing correlation with breast cancer with baseline and follow-up parameters was further examined. APOA1 rs670 A allele carriage was higher in breast cancer patients than controls (59.64% vs. 48.77%, p=0.038). The rs670 A allele carrying patients showed less favorable baseline phenotype with positive lymph nodes (G/A: OR=3.32, 95% CI=1.77-6.20, p<0.001; A/A: OR=2.58, 95% CI=1.05-6.32, p=0.039) and negative hormone receptor expression (A/A: OR=4.85, 95%CI=1.83-12.83, p=0.001) in comparison to G/G carriers. Moreover, rs670 A/A carrying patients had higher risks in both tumor recurrence (HR=3.12, 95% CI=1.29-7.56, p=0.012) and mortality (HR=4.36, 95% CI=1.52-12.47, p=0.006) than patients with no A alleles after adjustments for associated baseline parameters. Furthermore, the prognostic effect of rs670 A/A carriage was most evident in lymph node-negative patients, conferring to the highest risks of recurrence (HR=4.98, 95% CI=1.40-17.70, p=0.013) and mortality (HR=9.87, 95%CI=1.60-60.81, p=0.014) than patients with no A alleles. APOA1 rs670 A/A carriage showed

  3. The dyslipidemia-associated SNP on the APOA1/C3/A5 gene cluster predicts post-surgery poor outcome in Taiwanese breast cancer patients: a 10-year follow-up study

    Energy Technology Data Exchange (ETDEWEB)

    Hsu, Mei-Chi [Research Center for Medical Laboratory Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China); Department of Medical Laboratory Science and Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China); Lee, Kuo-Ting [Department of Surgery, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China); Hsiao, Wei-Chiang [Department of Surgery, Yang Ming Hospital, Chiayi, Taiwan (China); Wu, Chih-Hsing [Department of Family Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China); Sun, Hung-Yu [Department of Medical Laboratory Science and Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China); Lin, I-Ling [Department of Medical Laboratory Science and Biotechnology, College of Health Sciences, Kaohsiung Medical University, Kaohsiung, Taiwan (China); Young, Kung-Chia [Research Center for Medical Laboratory Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China); Department of Medical Laboratory Science and Biotechnology, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China); Center of Infectious Disease and Signaling Research, College of Medicine, National Cheng Kung University, Tainan, Taiwan (China)

    2013-07-05

    Post-surgery therapies are given to early-stage breast cancer patients due to the possibility of residual micrometastasis, and optimized by clincopathological parameters such as tumor stage, and hormone receptor/lymph node status. However, current efficacy of post-surgery therapies is unsatisfactory, and may be varied according to unidentified patient genetic factors. Increases of breast cancer occurrence and recurrence have been associated with dyslipidemia, which can attribute to other known risk factors of breast cancer including obesity, diabetes and metabolic syndrome. Thus we reasoned that dyslipidemia-associated nucleotide polymorphisms (SNPs) on the APOA1/C3/A5 gene cluster may predict breast cancer risk and tumor progression. We analyzed the distribution of 5 selected APOA1/C3/A5 SNPs in recruited Taiwanese breast cancer patients (n=223) and healthy controls (n=162). The association of SNP (APOA1 rs670) showing correlation with breast cancer with baseline and follow-up parameters was further examined. APOA1 rs670 A allele carriage was higher in breast cancer patients than controls (59.64% vs. 48.77%, p=0.038). The rs670 A allele carrying patients showed less favorable baseline phenotype with positive lymph nodes (G/A: OR=3.32, 95% CI=1.77-6.20, p<0.001; A/A: OR=2.58, 95% CI=1.05-6.32, p=0.039) and negative hormone receptor expression (A/A: OR=4.85, 95%CI=1.83-12.83, p=0.001) in comparison to G/G carriers. Moreover, rs670 A/A carrying patients had higher risks in both tumor recurrence (HR=3.12, 95% CI=1.29-7.56, p=0.012) and mortality (HR=4.36, 95% CI=1.52-12.47, p=0.006) than patients with no A alleles after adjustments for associated baseline parameters. Furthermore, the prognostic effect of rs670 A/A carriage was most evident in lymph node-negative patients, conferring to the highest risks of recurrence (HR=4.98, 95% CI=1.40-17.70, p=0.013) and mortality (HR=9.87, 95%CI=1.60-60.81, p=0.014) than patients with no A alleles. APOA1 rs670 A/A carriage showed

  4. Prehispanic Functional Foods and Nutraceuticals in the Treatment of Dyslipidemia Associated to Cardiovascular Disease: a Mini-Review.

    Science.gov (United States)

    Ríos-Hoyo, Alejandro; Romo-Araiza, Alejandra; Meneses-Mayo, Marcos; Guttiérrez-Salmeán, Gabriela

    2017-01-27

    Dyslipidemia is an important modifi able risk factor for cardiovascular and metabolic diseases, which are responsible for a large number of mortality and disability cases around the globe. Different strategies have been used within the treatment of dyslipidemia, including lifestyle modifi cations, pharmacologic therapy, as well as functional foods and nutraceuticals. Functional foods have been used worldwide since ancient times, particularly, the prehispanic civilizations utilized several as medicinal foods. In the current pandemic of dyslipidemia as well as the nutritional transition, particularly in Latin America, the use of native functional foods represents an attractive target for the treatment and/ or prevention of these conditions. In this mini-review, evidence regarding different functional foods such as cacao, amaranth, chia, nopal, spirulina, as well as their nutraceutical compounds, including fl avonoids, omega-3 PUFAs, fi ber, prebiotics, lovastatin, c-phycocyanin, among others, and their mechanism of action are presented and discussed. Although such foods certainly are considered as attractive potential agents to target dyslipidemia thus decrease the associated cardiometabolic risk, we conclude that for most of the presented functional foods there is currently not enough evidence to support its recommendation and every-day use.

  5. Association among retinol-binding protein 4, small dense LDL cholesterol and oxidized LDL levels in dyslipidemia subjects.

    Science.gov (United States)

    Wu, Jia; Shi, Yong-hui; Niu, Dong-mei; Li, Han-qing; Zhang, Chun-ni; Wang, Jun-jun

    2012-06-01

    To investigate retinol-binding protein 4 (RBP4), small dense low-density lipoprotein cholesterol (sdLDL-C) and oxidized low-density lipoprotein (ox-LDL) levels and their associations in dyslipidemia subjects. We determined RBP4, sdLDL-C, ox-LDL levels in 150 various dyslipidemia subjects and 50 controls. The correlation analysis and multiple linear regression analysis were performed. The RBP4, sdLDL-C and ox-LDL levels were found increased in various dyslipidemia subjects. The sdLDL-C levels were positively correlated with RBP4 (r=0.273, P=0.001) and ox-LDL (r=0.273, P=0.001). RBP4 levels were also correlated with ox-LDL (r=0.167, P=0.043). The multiple regression analysis showed that only sdLDL-C was a significant independent predictor for RBP4 (β coefficient=0.219, P=0.009; adjusted R(2)=0.041) and ox-LDL (β coefficient=0.253, P=0.003; adjusted R(2)=0.057) levels, respectively. The independent associations of sdLDL-C with RBP4 and ox-LDL were observed in dyslipidemia subjects. RBP4 may play an important role in lipid metabolism of atherosclerosis, particularly in formation of sdLDL. Copyright © 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

  6. Therapeutic inertia in the outpatient management of dyslipidemia in patients with ischemic heart disease. The inertia study.

    Science.gov (United States)

    Lázaro, Pablo; Murga, Nekane; Aguilar, Dolores; Hernández-Presa, Miguel A

    2010-12-01

    Studies indicate that dyslipidemia is undertreated. Numerous systematic reviews have shown that, even when therapeutic targets set by clinical practice guidelines have not been met, treatment remains unchanged despite the availability of alternatives approaches. The result is increased morbidity and mortality. Our aims were to investigate this phenomenon, known as therapeutic inertia, in patients with dyslipidemia and ischemic heart disease, and to determine its possible causes. national, multicenter, observational study of data obtained from physicians by questionnaire and from the clinical records of patients with ischemic heart disease. Main variable: therapeutic inertia during a consultation, defined as treatment remaining the same despite a change being indicated (e.g. low-density lipoprotein cholesterol >100 mg/dl or >70 mg/dl in diabetics). Covariates: physician, patient and consultation characteristics. multivariate logistic regression analysis of factors associated with therapeutic inertia during a consultation. Overall, 43% of consultations involved therapeutic inertia, and an association with coronary risk factors, including diabetes, did not result in a change in treatment. Therapeutic inertia occurred more frequently when there was a long time between the diagnosis and treatment of dyslipidemia and that of ischemic heart disease. Undertreatment was particularly common in women despite a greater overall risk. The more experienced physicians treated younger patients more appropriately. Clinical practice was improved by educational sessions at conferences. Therapeutic inertia was common in patients with chronic ischemic heart disease and dyslipidemia, irrespective of overall cardiovascular risk. Factors associated with the patient, disease and physician had an influence.

  7. The pluripotential effects of hypolipidemic treatment for polycystic ovary syndrome (PCOS): dyslipidemia, cardiovascular risk factors and beyond.

    Science.gov (United States)

    Economou, Frangiskos; Xyrafis, Xenofon; Christakou, Charikleia; Diamanti-Kandarakis, Evanthia

    2011-01-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous syndrome characterized by oligo- or anovulation, clinical and/or biochemical signs of hyperandrogenemia and polycystic ovaries. Clinical expression is determined by both genetic and environmental factors. Dyslipidemia is very common in lean as well as in obese women with PCOS and should be considered in the therapeutic management of the syndrome. Additionally to dyslipidemia, other risk factors for cardiovascular disease strongly associated with PCOS include insulin resistance, impaired glucose tolerance and metabolic syndrome. Therefore, the ideal therapeutic approach for PCOS would be multi targeted treatment ameliorating not only ovarian dysfunction but also cardiometabolic aspects, including dyslipidemia. Recently, a new era of hypolipidemic agents like statins has been initiated with regard to PCOS. The spectrum of statins' targets has been expanded and in vitro and in vivo studies have explored the specific effect of statins on androgen production, insulin resistance and inflammatory markers in PCOS. Statins are potentially promising therapeutic agents targeting hormonal and metabolic disturbances in PCOS, though conclusive results are still pending. Since several hormonal and metabolic aberrations characterizing this multifaceted syndrome cluster and interact with each other, their effects on the lipid profile are interweaving and the therapeutic modalities targeting dyslipidemia appear to have a more broad beneficial effect.

  8. [China expert consensus on the management of dyslipidemia in postmenopausal patients with early-stage breast cancer].

    Science.gov (United States)

    2017-01-23

    Estrogen has an impact on the type of lipoproteins and the blood lipid levels, thus protecting the cardiovascular system. Postmenopausal breast cancer patients suffer a significant decrease in estrogen levels due to both physiological changes and the use of drugs, and thus have a higher risk of atherosclerotic cardiovascular diseases. Therefore, strict lipid management is required for postmenopausal breast cancer patients receiving endocrine therapy. However, no guidelines have been developed in terms of lipid management and intervention for postmenopausal breast cancer patients. The Chinese expert group of multidisciplinary management of dyslipidemia in breast cancer patients with endocrine therapy, after deep investigation into the management of dyslipidemia in postmenopausal patients with early-stage breast cancer, has developed the China Expert Consensus on Dyslipidemia Management in Postmenopausal Patients with Early-stage Breast Cancer. The Consensus clearly defines the goals and measures of interventions for dyslipidemia, hoping to effectively reduce the risk of atherosclerotic cardiovascular disease in postmenopausal breast cancer patients and further improve the long-term survival of the patients.

  9. Procedures for identifying S-allele genotypes of Brassica.

    Science.gov (United States)

    Wallace, D H

    1979-11-01

    Procedures are described for efficient selection of: (1) homozygous and heterozygous S-allele genotypes; (2) homozygous inbreds with the strong self- and sib-incompatibility required for effective seed production of single-cross F1 hybrids; (3) heterozygous genotypes with the high self- and sib-incompatibility required for effective seed production of 3- and 4-way hybrids.From reciprocal crosses between two first generation inbred (I1) plants there are three potential results: both crosses are incompatible; one is incompatible and the other compatible; and both are compatible. Incompatibility of both crosses is useful information only when combined with data from other reciprocal crosses. Each compatible cross, depending on whether its reciprocal is incompatible or compatible, dictates alternative reasoning and additional reciprocal crosses for efficiently and simultaneously identifying: (A) the S-allele genotype of all individual I1 plants, and (B) the expressions of dominance or codominance in pollen and stigma (sexual organs) of an S-allele heterozygous genotype. Reciprocal crosses provide the only efficient means of identifying S-allele genotypes and also the sexual-organ x S-allele-interaction types.Fluorescent microscope assay of pollen tube penetration into the style facilitates quantitation within 24-48 hours of incompatibility and compatibility of the reciprocal crosses. A procedure for quantitating the reciprocal difference is described that maximizes informational content of the data about interactions between S alleles in pollen and stigma of the S-allele-heterozygous genotype.Use of the non-inbred Io generation parent as a 'known' heterozygous S-allele genotype in crosses with its first generation selfed (I1) progeny usually reduces at least 7 fold the effort required for achieving objectives 1, 2, and 3, compared to the method of making reciprocal crosses only among I1 plants.Identifying the heterozygous and both homozygous S-allele genotypes during

  10. Fibrates are an essential part of modern anti-dyslipidemic arsenal: spotlight on atherogenic dyslipidemia and residual risk reduction

    Directory of Open Access Journals (Sweden)

    Tenenbaum Alexander

    2012-10-01

    Full Text Available Abstract Currently the world faces epidemic of several closely related conditions: obesity, metabolic syndrome and type 2 diabetes (T2DM. The lipid profile of these patients and those with metabolic syndrome is characterized by the concurrent presence of qualitative as well as quantitative lipoprotein abnormalities: low levels of HDL, increased triglycerides, and prevalence of LDL particles that are smaller and denser than normal. This lipid phenotype has been defined as atherogenic dyslipidemia. Overwhelming evidences demonstrate that all components of the atherogenic dyslipidemia are important risk-factors for cardiovascular diseases. Optimal reduction of cardiovascular risk through comprehensive management of atherogenic dyslipidemias basically depends of the presence of efficacious lipid-modulating agents (beyond statin-based reduction of LDL-C. The most important class of medications which can be effectively used nowadays to combat atherogenic dyslipidemias is the fibrates. From a clinical point of view, in all available 5 randomized control trials beneficial effects of major fibrates (gemfibrozil, fenofibrate, bezafibrate were clearly demonstrated and were highly significant in patients with atherogenic dyslipidemia. In these circumstances, the main determinant of the overall results of the trial is mainly dependent of the number of the included appropriate patients with atherogenic dyslipidemia. In a meta-analysis of dyslipidemic subgroups totaling 4726 patients a significant 35% relative risk reduction in cardiovascular events was observed compared with a non significant 6% reduction in those without dyslipidemia. However, different fibrates may have a somewhat different spectrum of effects. Currently only fenofibrate was investigated and proved to be effective in reducing microvascular complications of diabetes. Bezafibrate reduced the severity of intermittent claudication. Cardinal differences between bezafibrate and other fibrates are

  11. Fibrates are an essential part of modern anti-dyslipidemic arsenal: spotlight on atherogenic dyslipidemia and residual risk reduction.

    Science.gov (United States)

    Tenenbaum, Alexander; Fisman, Enrique Z

    2012-10-11

    Currently the world faces epidemic of several closely related conditions: obesity, metabolic syndrome and type 2 diabetes (T2DM). The lipid profile of these patients and those with metabolic syndrome is characterized by the concurrent presence of qualitative as well as quantitative lipoprotein abnormalities: low levels of HDL, increased triglycerides, and prevalence of LDL particles that are smaller and denser than normal. This lipid phenotype has been defined as atherogenic dyslipidemia. Overwhelming evidences demonstrate that all components of the atherogenic dyslipidemia are important risk-factors for cardiovascular diseases. Optimal reduction of cardiovascular risk through comprehensive management of atherogenic dyslipidemias basically depends of the presence of efficacious lipid-modulating agents (beyond statin-based reduction of LDL-C). The most important class of medications which can be effectively used nowadays to combat atherogenic dyslipidemias is the fibrates. From a clinical point of view, in all available 5 randomized control trials beneficial effects of major fibrates (gemfibrozil, fenofibrate, bezafibrate) were clearly demonstrated and were highly significant in patients with atherogenic dyslipidemia. In these circumstances, the main determinant of the overall results of the trial is mainly dependent of the number of the included appropriate patients with atherogenic dyslipidemia. In a meta-analysis of dyslipidemic subgroups totaling 4726 patients a significant 35% relative risk reduction in cardiovascular events was observed compared with a non significant 6% reduction in those without dyslipidemia. However, different fibrates may have a somewhat different spectrum of effects. Currently only fenofibrate was investigated and proved to be effective in reducing microvascular complications of diabetes. Bezafibrate reduced the severity of intermittent claudication. Cardinal differences between bezafibrate and other fibrates are related to the effects on

  12. Allele mining in barley genetic resources reveals genes of race-nonspecific powdery mildew resistance

    Directory of Open Access Journals (Sweden)

    Annika eSpies

    2012-01-01

    Full Text Available Race-nonspecific, or quantitative, pathogen resistance is of high importance to plant breeders due to its expected durability. However, it is usually controlled by multiple quantitative trait loci (QTL and therefore difficult to handle in practice. Knowing the genes that underlie race-nonspecific resistance would allow its exploitation in a more targeted manner. Here, we performed an association-genetic study in a customized worlwide collection of spring barley accessions for candidate genes of race-nonspecific resistance to the powdery mildew fungus Blumeria graminis f.sp. hordei (Bgh and combined data with results from QTL-mapping- as well as functional-genomics approaches. This led to the idenfication of 11 associated genes with converging evidence for an important role in race-nonspecific resistance in the presence of the Mlo-gene for basal susceptibility. Outstanding in this respect was the gene encoding the transcription factor WRKY2. The results suggest that unlocking plant genetic resources and integrating functional-genomic with genetic approaches accelerates the discovery of genes underlying race-nonspecific resistance in barley and other crop plants.

  13. Role of Glitazars in atherogenic dyslipidemia and diabetes: Two birds with one stone?

    Directory of Open Access Journals (Sweden)

    Srinivasa P Munigoti

    2014-01-01

    Full Text Available A triad of high triglycerides, low high-density lipoprotein (HDL cholesterol, and elevated small dense low-density lipoprotein particles occurring in a patient with type 2 diabetes is referred to atherogenic diabetic dyslipidemia (ADD. Despite statin therapy, a significant residual risk remains potentially attributable to increased triglyceride concentration and low HDL cholesterol, a characteristic hallmark of ADD. Current therapeutic options in reducing this residual risk include nicotinic acid, omega 3 fatty acids, and selective peroxisome proliferator-activated receptor-alpha (PPAR agonists (fibrates. These drugs are limited in their potential either by lack of evidence to support their role in reducing cardiovascular events or due to their side effects. This review details their current status and also the role of new glitazar, saroglitazar adual PPARα/γ agonist with predominant PPARα activity in the management of ADD.

  14. Association of inflammation, dyslipidemia, obesity and physical activity status in children

    Directory of Open Access Journals (Sweden)

    Juliano Magalhães Guedes

    2016-06-01

    Full Text Available Abstract The aim of this study was to verify the association between inflammatory biomarkers, dyslipidemia, obesity and physical activity status in 10-years old children. Ninety-four children participated in this study and were classified into eutrophic (n=36, overweight (n=34 or obese (n=24 according to their body mass index (BMI. The genic expression of interleukin 6 (IL-6, tumor necrosis factor alpha (TNF-α and chemokine C-C motif ligand 2 (CCL-2 mRNA; the serum concentration of high-density lipoprotein cholesterol (HDL-c and triglycerides; BMI, percentage of body fat (% BF and waist circumference; and the number of steps per day were determined. The expression of IL-6, TNF-α and CCL-2 were associated (p 0.05 between pro-inflammatory biomarkers and number of steps per day was found.

  15. Management of co-existing diabetes mellitus and dyslipidemia: defining the role of thiazolidinediones.

    Science.gov (United States)

    Florkowski, Chris M

    2002-01-01

    The observed reduction in macrovascular outcomes in the United Kingdom Progressive Diabetes Study (UKPDS) trial in patients with type 2 diabetes mellitus (DM), treated intensively with insulin or sulfonylureas, was of borderline significance (p = 0.052). This may be because of the role of factors other than glycemic control in the etiology of macrovascular disease. The UKPDS and other studies have suggested that lipid parameters are potent predictors of adverse outcomes in patients with type 2 DM. In patients with DM, dyslipidemia is characterized by elevated serum triglycerides and low high density lipoprotein-cholesterol (HDL-C) with normal total serum cholesterol levels and usually accompanied by an elevation of atherogenic, small, dense low density lipoprotein-cholesterol (LDL-C) particles. Dyslipidemia is only partly corrected by dietary and lifestyle modifications and pharmacological glycemic control in patients with DM. Several guidelines, including those published by the New Zealand Heart Foundation, suggest that lipid-modifying therapies are appropriate in patients considered to be at high or very high risk of a cardiac event. This includes patients with established vascular disease. Some recent studies suggest that patients with type 2 DM have risk comparable to patients without DM, but have experienced previous myocardial infarction (MI). Subgroup analysis of trials including the Scandinavian Simvastatin Survival Study (4S) and Cholesterol and Recurrent Events (CARE), which included patients with DM, have shown a significant reduction in adverse outcomes, although many patients with DM and dyslipidemia were excluded. Of lipid-lowering drugs, fibric acid derivatives are probably the most appropriate for patients with DM and dyslipidemia and their role is being evaluated in large, long-term outcome studies such as Fenofibrate Intervention and Event Lowering in Diabetes (FIELD). Thiazolidinediones, a new class of compound for treating patients with type 2

  16. DYSLIPIDEMIAS AND THEIR ASSOCIATION WITH CHRONIC NON-INFECTIOUS DISEASES (MERIDIAN-RO STUDY

    Directory of Open Access Journals (Sweden)

    E. V. Filippov

    2016-01-01

    Full Text Available Objective: to study the frequency of lipid disorders and their association with chronic non-communicable diseases (NCD in the unorganized population of Ryazan’ region 25–64 yo.Materials and methods. The study was conducted as a prospective cohort with a cross-sectional retrospective and included the study of biochemical samples, an electrocardiogram and a survey using a standardized questionnaire. In a study in 1622 people were included in 2011 (1220 – city, 402 – rural in the 25–64 years of age (mean age – 43.4 ± 11.4 years, of which, 42.6 % were male, 53.8 % – female. The cohort was observed 36 months, annually evaluated endpoints. Dyslipidemia was considered as total cholesterol greater than 5 mmol/L and/or low density lipoprotein more than 2.5 mmol/L.Results. The prevalence of dyslipidemia in the population of the Ryazan region was 84.1 % (81.4 % – the city, 89.3 % – the village, p = 0.0001. It was found that an increase in apolipoprotein B, more than 180 mg/dL was associated with an increased risk of more than 5 % on the SCORE (OR 1.81, 95 % CI 1.61–2.03, diabetes (OR 1.87, 95 % CI 1,38–2,54, hypertension (OR 1.44, 95 % CI 1.29–1.60, CKD (OR 1.83, 95 % CI 1.28–2.62, gastrointestinal diseases (OR 1.12, 95 % CI 1.02–1.24, and ischemic heart disease/stroke/myocardial infarction combined point (ОR 1.61, 95 % CI 1.05–2.46. Increased total cholesterol greater than 5 mmol/L or low-density lipoprotein cholesterol greater than 2.5 mmol/L was also associated with hypertension (OR 1.28, 95 % CI 1.08–1.51, CKD (OR 1.97, 95 % CI 1.04–3.71 and dorsopathy. Links with ischemic heart disease/stroke/myocardial infarction has been received (ОR 0.89, 95 % CI 0.51– 1.56. Ups increased the risk of death from all causes (RR 3.98, 95 % CI 1.48–10.70, p = 0.006 and the combined endpoint (RR 7.12, 95 % CI 3.26–15.57, p = 0.0001.Conclusion. The frequency of dyslipidemia in the Ryazan’ region was high and amounted to 84

  17. [Consensus for pharmacologic treatment of atherogenic dyslipidemia with statin-fenofibrate combined therapy].

    Science.gov (United States)

    2016-01-01

    LDLc levels are associated with increase of cardiovascular risk, and statins are currently used for their control. Nevertheless, a despite of LDLc levels at goal, a residual risk is persistent, commonly associated with persistent lipids modifications (high triglycerides and low HDLc). So, it is necessary to evaluate triglycerides and HDL to assessment cardiovascular risk. Clinical data are consistent with efficacy and safety of combination therapy with statin and other lipid lowering drugs, for instance fenofibrate. Patients with hipertriglyceridemia and low HDLc are the group with most potential improve. In that patients with atherogenic dyslipidemia, the target for therapeutic objectives related with non-HDL-cholesterol is a priority, because non-HDL-cholesterol is considered as a more accuracy measure to assessment cardiovascular risk. Copyright © 2015. Published by Elsevier España.

  18. Allele-Selective Transcriptome Recruitment to Polysomes Primed for Translation: Protein-Coding and Noncoding RNAs, and RNA Isoforms.

    Directory of Open Access Journals (Sweden)

    Roshan Mascarenhas

    Full Text Available mRNA translation into proteins is highly regulated, but the role of mRNA isoforms, noncoding RNAs (ncRNAs, and genetic variants remains poorly understood. mRNA levels on polysomes have been shown to correlate well with expressed protein levels, pointing to polysomal loading as a critical factor. To study regulation and genetic factors of protein translation we measured levels and allelic ratios of mRNAs and ncRNAs (including microRNAs in lymphoblast cell lines (LCL and in polysomal fractions. We first used targeted assays to measure polysomal loading of mRNA alleles, confirming reported genetic effects on translation of OPRM1 and NAT1, and detecting no effect of rs1045642 (3435C>T in ABCB1 (MDR1 on polysomal loading while supporting previous results showing increased mRNA turnover of the 3435T allele. Use of high-throughput sequencing of complete transcript profiles (RNA-Seq in three LCLs revealed significant differences in polysomal loading of individual RNA classes and isoforms. Correlated polysomal distribution between protein-coding and non-coding RNAs suggests interactions between them. Allele-selective polysome recruitment revealed strong genetic influence for multiple RNAs, attributable either to differential expression of RNA isoforms or to differential loading onto polysomes, the latter defining a direct genetic effect on translation. Genes identified by different allelic RNA ratios between cytosol and polysomes were enriched with published expression quantitative trait loci (eQTLs affecting RNA functions, and associations with clinical phenotypes. Polysomal RNA-Seq combined with allelic ratio analysis provides a powerful approach to study polysomal RNA recruitment and regulatory variants affecting protein translation.

  19. Prevalence of dyslipidemia according to the nutritional status in a representative sample of São Paulo.

    Science.gov (United States)

    Garcez, Marcela Riccioppo; Pereira, Jaqueline Lopes; Fontanelli, Mariane de Mello; Marchioni, Dirce Maria Lobo; Fisberg, Regina Mara

    2014-12-01

    Overweight is one of the major public health problems in Brazil; it is associated with dyslipidemia, which is an important risk factor for cardiovascular diseases. To evaluate the lipid profile of residents of the municipality of São Paulo, state of São Paulo, according to the nutritional status. Data from the population-based cross-sectional study ISA-Capital 2008 on a sample of residents of São Paulo were used. Participants were categorized into groups according to body mass index and age range. The levels of total cholesterol, HDL-cholesterol, LDL-cholesterol, triglycerides, and non-HDL cholesterol were measured. The association between lipid profile, nutricional status, and waist circumference was investigated. The data were processed using the survey mode of the Stata 11.0 software. The prevalence of any type of dyslipidemia in the population was 59.74%, with low HDL-cholesterol dyslipidemia being the most common type. Not overweight individuals had higher mean levels of HDL-cholesterol and lower levels of LDL-cholesterol, total cholesterol, triglycerides, and non-HDL cholesterol when compared with the overweight group. The rate of inadequacy of these variables was higher in the overweight individuals, regardless of the age group, to the exception of LDL-cholesterol in the adults and elderly. A higher prevalence of isolated hypertriglyceridemia was observed in individuals with higher waist circumference among the adults and the total population. The results indicate an association between dyslipidemia and overweight in the population of the city of São Paulo. The most prevalent dyslipidemia in this population was low HDL-cholesterol.

  20. Dyslipidemia and Food Security in Low-Income US Adolescents: National Health and Nutrition Examination Survey, 2003-2010.

    Science.gov (United States)

    Tester, June M; Laraia, Barbara A; Leung, Cindy W; Mietus-Snyder, Michele L

    2016-02-11

    Low levels of food security are associated with dyslipidemia and chronic disease in adults, particularly in women. There is a gap in knowledge about the relationship between food security among youth and dyslipidemia and chronic disease. We investigated the relationship between food security status and dyslipidemia among low-income adolescents. We analyzed data from adolescents aged 12 to 18 years (N = 1,072) from households with incomes at or below 200% of the federal poverty level from the National Health and Nutrition Examination Survey (NHANES) 2003-2010. We used logistic regression to examine the relationship between household food security status and the odds of having abnormalities with fasting total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), serum triglycerides (TGs), high-density lipoprotein cholesterol (HDL-C), TG/HDL-C ratio, and apolipoprotein B (Apo B). Models included age, sex, race/ethnicity, smoking status, partnered status in the household, and maternal education, with additional adjustment for adiposity. Household food security status was not associated with elevated TC or LDL-C. Adolescents with marginal food security were more likely than food-secure peers to have elevated TGs (odds ratio [OR] = 1.86; 95% confidence interval [CI], 1.14-3.05), TG/HDL-C ratio (OR = 1.74; 95% CI, 1.11-2.82), and Apo B (OR = 1.98; 95% CI, 1.17-3.36). Female adolescents with marginal food security had greater odds than male adolescents of having low HDL-C (OR = 2.69; 95% CI, 1.14-6.37). No elevated odds of dyslipidemia were found for adolescents with low or very low food security. Adjustment for adiposity did not attenuate estimates. In this nationally representative sample, low-income adolescents living in households with marginal food security had increased odds of having a pattern consistent with atherogenic dyslipidemia, which represents a cardiometabolic burden above their risk from adiposity alone.

  1. Dyslipidemia and reference values for fasting plasma lipid concentrations in Danish/North-European White children and adolescents.

    Science.gov (United States)

    Nielsen, Tenna Ruest Haarmark; Lausten-Thomsen, Ulrik; Fonvig, Cilius Esmann; Bøjsøe, Christine; Pedersen, Lise; Bratholm, Palle Skov; Hansen, Torben; Pedersen, Oluf; Holm, Jens-Christian

    2017-04-28

    Dyslipidemia is reported in 27 - 43% of children and adolescents with overweight/obesity and tracks into adulthood, increasing the risk of cardiovascular morbidity. Cut-off values for fasting plasma lipid concentrations are typically set at fixed levels throughout childhood. The objective of this cross-sectional study was to generate fasting plasma lipid references for a Danish/North-European White population-based cohort of children and adolescents, and investigate the prevalence of dyslipidemia in this cohort as well as in a cohort with overweight/obesity. A population-based cohort of 2141 (1275 girls) children and adolescents aged 6 - 19 (median 11.5) years was recruited from 11 municipalities in Denmark. Additionally, a cohort of children and adolescents of 1421 (774 girls) with overweight/obesity aged 6 - 19 years (median 11.8) was recruited for the study. Height, weight, and fasting plasma lipid concentrations were measured on all participants. Smoothed reference curves and percentiles were generated using the Generalized Additive Models for Location Scale and Shape package in the statistical software R. In the population-based cohort, plasma concentrations of total cholesterol (TC) (P dyslipidemia was 6.4% in the population-based cohort and 28.0% in the cohort with overweight/obesity. The odds ratio for exhibiting dyslipidemia in the cohort with overweight/obesity compared with the population-based cohort was 6.2 (95% CI: 4.9 - 8.1, P dyslipidemia. The study is part of The Danish Childhood Obesity Biobank; ClinicalTrials.gov ID-no.: NCT00928473 retrospectively registered on June 25th 2009.

  2. Tissue dyslipidemia in salmonella-infected rats treated with amoxillin and pefloxacin

    Directory of Open Access Journals (Sweden)

    Rotimi Solomon O

    2012-11-01

    Full Text Available Abstract Background This study investigated the effects of salmonella infection and its chemotherapy on lipid metabolism in tissues of rats infected orally with Salmonella typhimurium and treated intraperitoneally with pefloxacin and amoxillin. Methods Animals were infected with Salmonella enterica serovar Typhimurium strain TA 98. After salmonellosis was confirmed, they were divided into 7 groups of 5 animals each. While one group served as infected control group, three groups were treated with amoxillin (7.14 mg/kg body weight, 8 hourly and the remaining three groups with pefloxacin (5.71mg/kg body weight, 12 hourly for 5 and 10 days respectively. Uninfected control animals received 0.1ml of vehicle. Rats were sacrificed 24h after 5 and 10 days of antibiotic treatment and 5 days after discontinuation of antibiotic treatment. Their corresponding controls were also sacrificed at the same time point. Blood and tissue lipids were then evaluated. Results Salmonella infection resulted in dyslipidemia characterised by increased concentrations of free fatty acids (FFA in plasma and erythrocyte, as well as enhanced cholesterogenesis, hypertriglyceridemia and phospholipidosis in plasma, low density lipoprotein-very low density lipoprotein (LDL-VLDL, erythrocytes, erythrocyte ghost and the organs. The antibiotics reversed the dyslipidemia but not totally. A significant correlation was observed between fecal bacterial load and plasma cholesterol (r=0.456, p Conclusion The findings of this study suggest that salmonella infection in rats and its therapy with pefloxacin and amoxillin perturb lipid metabolism and this perturbation is characterised by cholesterogenesis.

  3. Impact of the Use of Different Diagnostic Criteria in the Prevalence of Dyslipidemia in Pregnant Women

    Directory of Open Access Journals (Sweden)

    Alina Coutinho Rodrigues Feitosa

    Full Text Available Abstract Background: There is a physiologic elevation of total cholesterol (TC and triglycerides (TG during pregnancy. Some authors define dyslipidemia (DLP in pregnant women when TC, LDL and TG concentrations are above the 95th percentile (p95% and HDL concentration is below the 5th percentile (P5% for gestational age (GA. Objective: To compare the prevalence of DLP in pregnant women using percentiles criteria with the V Brazilian Guidelines on Dyslipidemia and the association with maternal and fetal outcomes. Results: Pregnant women with high-risk conditions, aged 18-50 years, and at least one lipid profile during pregnancy was classified as the presence of DLP by two diagnostic criteria. Clinical and laboratorial data of mothers and newborns were evaluated. Conclusion: 433 pregnant women aged 32.9 ± 6.5 years were studied. Most (54.6% had lipid profile collected during third trimester. The prevalence of any lipid abnormalities according to the criteria of the National Guidelines was 83.8%: TC ≥ 200 mg/dL was found in 49.9%; LDL ≥ 160 mg/dL, in 14.3%, HDL ≤ 50 mg/dL in 44.4% and TG ≥ 150 mg/dL in 65.3%. Any changes of lipid according to percentiles criteria was found in 19.6%: elevation above the P95% for TC was found in 0.7%; for LDL, 1.7%; for TG 6.4% and HDL lower than the P5% in 13%. The frequency of comorbidity: hypertension, diabetes, smoking, obesity and preeclampsia was similar among pregnant women when DLP was compared by both criteria. Conclusion: The prevalence of DLP during pregnancy varies significantly depending on the criteria used, however none demonstrated superiority in association with comorbidities.

  4. The impact of stress systems and lifestyle on dyslipidemia and obesity in anxiety and depression.

    Science.gov (United States)

    van Reedt Dortland, Arianne K B; Vreeburg, Sophie A; Giltay, Erik J; Licht, Carmilla M M; Vogelzangs, Nicole; van Veen, Tineke; de Geus, Eco J C; Penninx, Brenda W J H; Zitman, Frans G

    2013-02-01

    Dyslipidemia and obesity have been observed in persons with severe anxiety or depression, and in tricyclic antidepressant (TCA) users. This likely contributes to the higher risk of cardiovascular disease (CVD) in anxiety and depressive disorders. We aimed to elucidate whether biological stress systems or lifestyle factors underlie these associations. If so, they may be useful targets for CVD prevention and intervention. Within 2850 Netherlands Study of Depression and Anxiety (NESDA) participants, we evaluated the explaining impact of biological stress systems (i.e., the hypothalamic-pituitary-adrenal [HPA] axis, autonomic nervous system [ANS] and inflammation) and lifestyle factors (i.e., tobacco and alcohol use, and physical activity) on adverse associations of anxiety and depression severity and TCA use with high and low-density lipoprotein cholesterol, triglycerides, body mass index and waist circumference. Through linear regression analyses, percentual change (%Δ) in β was determined and considered significant when %Δ>10. The inflammatory marker C-reactive protein had the most consistent impact (explaining 14-53% of the associations of anxiety and depression severity and TCA use with lipid and obesity levels), followed by tobacco use (explaining 34-43% of the associations with lipids). The ANS mediated all associations with TCA use (explaining 32-61%). The HPA axis measures did not explain any of the associations. Increased dyslipidemia and (abdominal) obesity risk in patients with more severe anxiety disorders and depression may be partly explained by chronic low-grade inflammation and smoking. TCAs may increase metabolic risk through enhanced sympathetic and decreased parasympathetic ANS activity. That the HPA axis had no impact in our sample may reflect the possibility that the HPA axis only plays a role in acute stress situations rather than under basal conditions. Copyright © 2012 Elsevier Ltd. All rights reserved.

  5. Rohitukine inhibits in vitro adipogenesis arresting mitotic clonal expansion and improves dyslipidemia in vivo.

    Science.gov (United States)

    Varshney, Salil; Shankar, Kripa; Beg, Muheeb; Balaramnavar, Vishal M; Mishra, Sunil Kumar; Jagdale, Pankaj; Srivastava, Shishir; Chhonker, Yashpal S; Lakshmi, Vijai; Chaudhari, Bhushan P; Bhatta, Rabi Shankar; Saxena, Anil Kumar; Gaikwad, Anil Nilkanth

    2014-06-01

    We developed a common feature pharmacophore model using known antiadipogenic compounds (CFPMA). We identified rohitukine, a reported chromone anticancer alkaloid as a potential hit through in silico mapping of the in-house natural product library on CFPMA. Studies were designed to assess the antiadipogenic potential of rohitukine. Rohitukine was isolated from Dysoxylum binacteriferum Hook. to ⬧95% purity. As predicted by CFPMA, rohitukine was indeed found to be an antiadipogenic molecule. Rohitukine inhibited lipid accumulation and adipogenic differentiation in a concentration- and exposure-time-dependent manner in 3T3-L1 and C3H10T1/2 cells. Rohitukine downregulated expression of PPARγ, CCAAT/enhancer binding protein α, adipocyte protein 2 (aP2), FAS, and glucose transporter 4. It also suppressed mRNA expression of LPL, sterol-regulatory element binding protein (SREBP) 1c, FAS, and aP2, the downstream targets of PPARγ. Rohitukine arrests cells in S phase during mitotic clonal expansion. Rohitukine was bioavailable, and 25.7% of orally administered compound reached systemic circulation. We evaluated the effect of rohitukine on dyslipidemia induced by high-fat diet in the hamster model. Rohitukine increased hepatic expression of liver X receptor α and decreased expression of SREBP-2 and associated targets. Rohitukine decreased hepatic and gonadal lipid accumulation and ameliorated dyslipidemia significantly. In summary, our strategy to identify a novel antiadipogenic molecule using CFPMA successfully resulted in identification of rohitukine, which confirmed antiadipogenic activity and also exhibited in vivo antidyslipidemic activity. Copyright © 2014 by the American Society for Biochemistry and Molecular Biology, Inc.

  6. Dyslipidemia Pattern in Rheumatoid Arthritis Patients with Correlation of Disease Activity

    Directory of Open Access Journals (Sweden)

    Prakash Joshi

    2017-06-01

    Full Text Available Rheumatoid arthritis (RA is a multi-factorial disease which affects the immune system and ultimately various tissues in the body that typically affects middle-aged individuals. Our objectives were to evaluate prevalence of dyslipidemias and its pattern in RA patients in Central India and correlate dyslipidemia with disease activity. This cross-sectional study was conducted on RA patients at Sri Aurobindo Institute of Medical Sciences and Post Graduate Institute, Indore (M.P. between January 2014 and December 2015. Lipid profiles were determined following 12-hour overnight fasting, and the association of lipid profiles with and disease activity was determined. The maximum number of cases presented in the age group was 41-50(36%. Disease is more prevalent in female population. Maximum number of pateints (34 patients had duration of illness ranged between 1 to 10 years. Most of the patients presented with high disease activity (90%. Total cholesterol levels were significantly higher in female cases as compared to controls. Similar to total cholesterol, LDL cholesterol was significantly higher in female cases as compared to controls. There was no significant difference of HDL, VLDL and TG between cases and controls. Mean lipid profile values were similar in male cases and controls. Positive correlation of DAS-28 (ESR was observed with total cholesterol and LDL levels in female patients only. No correlation of HDL, LDL and triglyceride were observed with DAS- 28 (ESR in both male and female patients. Lipid profiles were similar in both treatment naive and on treatment patients. No significant difference in mean lipid profile values expect HDL was observed in two groups created on the basis of RA factor. A lipid profile value has no positive or negative correlation with duration of illness. [J Contemp Med 2017; 7(2.000: 132-137

  7. Atherogenic dyslipidemia in children: evaluation of clinical, biochemical and genetic aspects.

    Directory of Open Access Journals (Sweden)

    Anna Montali

    Full Text Available The precursors of atherogenic dyslipidemia (AD are not well defined. Therefore, we investigated 62 non-obese, non-diabetic AD and 221 normolipemic children. Anthropometric parameters, blood pressure and biochemical measures were obtained in index children, their parents and all available siblings. The heritability (h(2 of anthropometric and biochemical traits was estimated by SOLAR. Rare and common variants in APOA1 and LPL genes were screened by re-sequencing. Compared to normolipemic, AD children showed increased body mass index, waist circumference, plasma glucose, insulin, ApoB, HOMA-IR, hs-CRP and lower adiponectin (p<0.001 for all. Metabolic syndrome was present in 40% of AD while absent in controls. All traits (except adiponectin and hs-CRP showed a strong familial aggregation, with plasma glucose having the highest heritability (89%. Overall, 4 LPL loss-of-function mutations were detected (p.Asp9Asn, p.Ser45Asn, p.Asn291Ser, p.Leu365Val and their cumulative prevalence was higher in AD than in control children (0.073 vs. 0.026; P=0.038. The LPL p.S447* gain-of-function mutation, resulted to be less frequent in AD than in control children (0.064 vs. 0.126; P=0.082. No variant in the APOA1 gene was found. Our data indicate that AD is a rather common dyslipidemia in childhood; it associates with metabolic abnormalities typical of insulin resistant state and shows a strong familial aggregation. LPL variants may contribute to the development of AD phenotype.

  8. Maternal dyslipidemia during pregnancy may increase the risk of preterm birth: A meta-analysis

    Directory of Open Access Journals (Sweden)

    Shuying Jiang

    2017-02-01

    Full Text Available Epidemiological studies have reported an inconsistent relationship between maternal lipid levels and preterm birth (PTB. We performed this meta-analysis to evaluate the association between maternal dyslipidemia and PTB. Overall, three nested case-control studies and eight cohort studies were eligible. Effect estimates [odds ratio(OR/relative risk] were pooled using a fixed-effects or a random-effects model. Subgroup and metaregression analyses were conducted to evaluate the sources of heterogeneity. Eleven studies involving 13,025 pregnant women were included. Compared with pregnant women with normal lipid levels, the women with elevated levels of lipids had an increased risk of PTB, and the pooled OR was 1.68 [95% confidence interval (CI: 1.25–2.26]; meanwhile, women with lower levels of lipids also had a trend of an increased risk of PTB (OR=1.52, 95% CI=0.60–3.82. The pooled ORs for elevated levels of total cholesterol, triglycerides, low density lipoprotein-cholesterol, and lower levels of high density lipoprotein-cholesterol were 1.71 (95% CI: 1.05–2.79, 1.55 (95% CI: 1.13–2.12, 1.19 (95% CI: 0.95–1.48, and 1.33 (95% CI: 1.14–1.56, respectively. The present meta-analysis found that maternal dyslipidemia during pregnancy, either the elevated total cholesterol or triglycerides, was associated with an increased risk of PTB. These findings indicate that a normal level of maternal lipid during pregnancy may reduce the risk of PTB.

  9. Impact of the Use of Different Diagnostic Criteria in the Prevalence of Dyslipidemia in Pregnant Women

    Science.gov (United States)

    Feitosa, Alina Coutinho Rodrigues; Barreto, Luciana Tedgue; da Silva, Isabela Matos; da Silva, Felipe Freire; Feitosa Filho, Gilson Soares

    2017-01-01

    Background There is a physiologic elevation of total cholesterol (TC) and triglycerides (TG) during pregnancy. Some authors define dyslipidemia (DLP) in pregnant women when TC, LDL and TG concentrations are above the 95th percentile (p95%) and HDL concentration is below the 5th percentile (P5%) for gestational age (GA). Objective To compare the prevalence of DLP in pregnant women using percentiles criteria with the V Brazilian Guidelines on Dyslipidemia and the association with maternal and fetal outcomes. Results Pregnant women with high-risk conditions, aged 18-50 years, and at least one lipid profile during pregnancy was classified as the presence of DLP by two diagnostic criteria. Clinical and laboratorial data of mothers and newborns were evaluated. Conclusion 433 pregnant women aged 32.9 ± 6.5 years were studied. Most (54.6%) had lipid profile collected during third trimester. The prevalence of any lipid abnormalities according to the criteria of the National Guidelines was 83.8%: TC ≥ 200 mg/dL was found in 49.9%; LDL ≥ 160 mg/dL, in 14.3%, HDL ≤ 50 mg/dL in 44.4% and TG ≥ 150 mg/dL in 65.3%. Any changes of lipid according to percentiles criteria was found in 19.6%: elevation above the P95% for TC was found in 0.7%; for LDL, 1.7%; for TG 6.4% and HDL lower than the P5% in 13%. The frequency of comorbidity: hypertension, diabetes, smoking, obesity and preeclampsia was similar among pregnant women when DLP was compared by both criteria. Conclusion The prevalence of DLP during pregnancy varies significantly depending on the criteria used, however none demonstrated superiority in association with comorbidities. PMID:28591252

  10. Highly efficient PCR assay to discriminate allelic DNA methylation status using whole genome amplification

    Directory of Open Access Journals (Sweden)

    Ito Takashi

    2011-06-01

    Full Text Available Abstract Background We previously developed a simple method termed HpaII-McrBC PCR (HM-PCR to discriminate allelic methylation status of the genomic sites of interest, and successfully applied it to a comprehensive analysis of CpG islands (CGIs on human chromosome 21q. However, HM-PCR requires 200 ng of genomic DNA to examine one target site, thereby precluding its application to such samples that are limited in quantity. Findings We developed HpaII-McrBC whole-genome-amplification PCR (HM-WGA-PCR that uses whole-genome-amplified DNA as the template. HM-WGA-PCR uses only 1/100th the genomic template material required for HM-PCR. Indeed, we successfully analyzed 147 CGIs by HM-WGA-PCR using only ~300 ng of DNA, whereas previous HM-PCR study had required ~30 μg. Furthermore, we confirmed that allelic methylation status revealed by HM-WGA-PCR is identical to that by HM-PCR in every case of the 147 CGIs tested, proving high consistency between the two methods. Conclusions HM-WGA-PCR would serve as a reliable alternative to HM-PCR in the analysis of allelic methylation status when the quantity of DNA available is limited.

  11. Allele frequency distribution for 15 autosomal STR loci in Afridi Pathan population of Uttar Pradesh, India.

    Science.gov (United States)

    Noor, Sabahat; Ali, Shahnaz; Eaaswarkhanth, Muthukrishnan; Haque, Ikramul

    2009-11-01

    Allele frequencies of the 15 autosomal short tandem repeat (STR) loci D8S1179, D21S11, D7S820, CSF1PO D19S433, vWA, TPOX, D18S51, D3S1358, THO1, D13S317, D16S539, D2S1338, D5S818 and FGA were determined in Afridi Pathan population of Uttar Pradesh, India. All the 15 STR loci studied were found to be highly polymorphic with respect to observed heterozygosity values. Adherence to the expectations of the Hardy-Weinberg equilibrium (HWE) was confirmed for all the loci with an exception of TPOX and FGA. The allele 12 in CSF1PO was found to be most frequent. The power of discrimination was found to be high ranging from a minimum of 0.858 for the locus CSFIPO to maximum of 0.962 for the locus FGA, thereby facilitating the validation and efficiency of these STR markers in human identification. Population differentiation test between the studied and neighboring populations revealed significant differences at several loci suggesting the endogamous nature of the studied population. To the best of our knowledge, Afridi Pathan population has not been explored genetically for generating forensic data on STR markers. Therefore, STR allele frequency data of this unique population is a valuable contribution to the existing DNA database on Indian populations.

  12. Identification of Alleles of Puroindoline Genes and Their Effect on Wheat (Triticum aestivum L. Grain Texture

    Directory of Open Access Journals (Sweden)

    Klára Štiasna

    2016-01-01

    Full Text Available Grain hardness is one of the most important quality characteristics of wheat (Triticum aestivum L.. It is a significant property of wheat grains and relates to milling quality and end product quality. Grain hardness is caused by the presence of puroindoline genes (Pina and Pinb. A collection of 25 genotypes of wheat with unusual grain colour (blue aleurone, purple and white pericarp, yellow endosperm was studied by polymerase chain reaction (PCR for the diversity within Pina and Pinb (alleles: Pina-D1a, Pina-D1b, Pinb-D1a, Pinb- -D1b, Pinb-D1c and Pinb-D1d. The endosperm structure was determined by a non-destructive method using light transfl ectance meter and grain hardness by a texture analyser. Genotype Novosibirskaya 67 and isogenic ANK lines revealed hitherto unknown alleles at the locus for the annealing of primers of Pinb-D1. Allele Pinb-D1c was found to be absent from each genotype. The mealy endosperm ranged from 0 to 100 % and grain hardness from 15.10 to 26.87 N per sample.

  13. VNTR alleles associated with the {alpha}-globin locus are haplotype and population related

    Energy Technology Data Exchange (ETDEWEB)

    Martinson, J.J.; Clegg, J.B.; Boyce, A.J. [Univ. of Oxford (United Kingdom)

    1994-09-01

    The human {alpha}-globin complex contains several polymorphic restriction-enzyme sites (i.e., RFLPs) linked to form haplotypes and is flanked by two hypervariable VNTR loci, the 5{prime} hypervariable region (HVR) and the more highly polymorphic 3{prime}HVR. Using a combination of RFLP analysis and PCR, the authors have characterized the 5{prime}HVR and 3{prime}HVR alleles associated with the {alpha}-globin haplotypes of 133 chromosomes, and they here show that specific {alpha}-globin haplotypes are each associated with discrete subsets of the alleles observed at these two VNTR loci. This statistically highly significant association is observed over a region spanning {approximately} 100 kb. With the exception of closely related haplotypes, different haplotypes do not share identically sized 3{prime}HVR alleles. Earlier studies have shown that {alpha}-globin haplotype distributions differ between populations; the current findings also reveal extensive population substructure in the repertoire of {alpha}-globin VNTRs. If similar features are characteristic of other VNTR loci, this will have important implications for forensic and anthropological studies. 42 refs., 5 figs., 5 tabs.

  14. Allelic Imbalance Is a Prevalent and Tissue-Specific Feature of the Mouse Transcriptome

    Science.gov (United States)

    Pinter, Stefan F.; Colognori, David; Beliveau, Brian J.; Sadreyev, Ruslan I.; Payer, Bernhard; Yildirim, Eda; Wu, Chao-ting; Lee, Jeannie T.

    2015-01-01

    In mammals, several classes of monoallelic genes have been identified, including those subject to X-chromosome inactivation (XCI), genomic imprinting, and random monoallelic expression (RMAE). However, the extent to which these epigenetic phenomena are influenced by underlying genetic variation is unknown. Here we perform a systematic classification of allelic imbalance in mouse hybrids derived from reciprocal crosses of divergent strains. We observe that deviation from balanced biallelic expression is common, occurring in ∼20% of the mouse transcriptome in a given tissue. Allelic imbalance attributed to genotypic variation is by far the most prevalent class and typically is tissue-specific. However, some genotype-based imbalance is maintained across tissues and is associated with greater genetic variation, especially in 5′ and 3′ termini of transcripts. We further identify novel random monoallelic and imprinted genes and find that genotype can modify penetrance of parental origin even in the setting of large imprinted regions. Examination of nascent transcripts in single cells from inbred parental strains reveals that genes showing genotype-based imbalance in hybrids can also exhibit monoallelic expression in isogenic backgrounds. This surprising observation may suggest a competition between alleles and/or reflect the combined impact of cis- and trans-acting variation on expression of a given gene. Our findings provide novel insights into gene regulation and may be relevant to human genetic variation and disease. PMID:25858912

  15. Incomplete dominance of deleterious alleles contributes substantially to trait variation and heterosis in maize.

    Directory of Open Access Journals (Sweden)

    Jinliang Yang

    2017-09-01

    Full Text Available Deleterious alleles have long been proposed to play an important role in patterning phenotypic variation and are central to commonly held ideas explaining the hybrid vigor observed in the offspring of a cross between two inbred parents. We test these ideas using evolutionary measures of sequence conservation to ask whether incorporating information about putatively deleterious alleles can inform genomic selection (GS models and improve phenotypic prediction. We measured a number of agronomic traits in both the inbred parents and hybrids of an elite maize partial diallel population and re-sequenced the parents of the population. Inbred elite maize lines vary for more than 350,000 putatively deleterious sites, but show a lower burden of such sites than a comparable set of traditional landraces. Our modeling reveals widespread evidence for incomplete dominance at these loci, and supports theoretical models that more damaging variants are usually more recessive. We identify haplotype blocks using an identity-by-decent (IBD analysis and perform genomic prediction analyses in which we weigh blocks on the basis of complementation for segregating putatively deleterious variants. Cross-validation results show that incorporating sequence conservation in genomic selection improves prediction accuracy for grain yield and other fitness-related traits as well as heterosis for those traits. Our results provide empirical support for an important role for incomplete dominance of deleterious alleles in explaining heterosis and demonstrate the utility of incorporating functional annotation in phenotypic prediction and plant breeding.

  16. Incomplete dominance of deleterious alleles contributes substantially to trait variation and heterosis in maize.

    Science.gov (United States)

    Yang, Jinliang; Mezmouk, Sofiane; Baumgarten, Andy; Buckler, Edward S; Guill, Katherine E; McMullen, Michael D; Mumm, Rita H; Ross-Ibarra, Jeffrey

    2017-09-01

    Deleterious alleles have long been proposed to play an important role in patterning phenotypic variation and are central to commonly held ideas explaining the hybrid vigor observed in the offspring of a cross between two inbred parents. We test these ideas using evolutionary measures of sequence conservation to ask whether incorporating information about putatively deleterious alleles can inform genomic selection (GS) models and improve phenotypic prediction. We measured a number of agronomic traits in both the inbred parents and hybrids of an elite maize partial diallel population and re-sequenced the parents of the population. Inbred elite maize lines vary for more than 350,000 putatively deleterious sites, but show a lower burden of such sites than a comparable set of traditional landraces. Our modeling reveals widespread evidence for incomplete dominance at these loci, and supports theoretical models that more damaging variants are usually more recessive. We identify haplotype blocks using an identity-by-decent (IBD) analysis and perform genomic prediction analyses in which we weigh blocks on the basis of complementation for segregating putatively deleterious variants. Cross-validation results show that incorporating sequence conservation in genomic selection improves prediction accuracy for grain yield and other fitness-related traits as well as heterosis for those traits. Our results provide empirical support for an important role for incomplete dominance of deleterious alleles in explaining heterosis and demonstrate the utility of incorporating functional annotation in phenotypic prediction and plant breeding.

  17. Association of low-activity MAOA allelic variants with violent crime in incarcerated offenders.

    Science.gov (United States)

    Stetler, Dean A; Davis, Chad; Leavitt, Kathryn; Schriger, Ilana; Benson, Katie; Bhakta, Samir; Wang, Lam Chee; Oben, Cynthia; Watters, Matthew; Haghnegahdar, Tara; Bortolato, Marco

    2014-11-01

    The main enzyme for serotonin degradation, monoamine oxidase (MAO) A, has recently emerged as a key biological factor in the predisposition to impulsive aggression. Male carriers of low-activity variants of the main functional polymorphism of the MAOA gene (MAOA-uVNTR) have been shown to exhibit a greater proclivity to engage in violent acts. Thus, we hypothesized that low-activity MAOA-uVNTR alleles may be associated with a higher risk for criminal violence among male offenders. To test this possibility, we analyzed the MAOA-uVNTR variants of violent (n = 49) and non-violent (n = 40) male Caucasian and African-American convicts in a correctional facility. All participants were also tested with the Childhood Trauma Questionnaire (CTQ), Barratt Impulsivity Scale (BIS-11) and Buss-Perry Aggression Questionnaire (BPAQ) to assess their levels of childhood trauma exposure, impulsivity and aggression, respectively. Our results revealed a robust (P crime. This association was replicated in the group of Caucasian violent offenders (P crime charges were not associated with CTQ, BIS-11 and BPAQ scores, carriers of low-activity alleles exhibited a mild, yet significant (P genetic determinant for criminal violence. Further studies are required to confirm these results in larger samples of inmates and evaluate potential interactions between MAOA alleles and environmental vulnerability factors. Copyright © 2014 Elsevier Ltd. All rights reserved.

  18. Genomic structural variation-mediated allelic suppression causes hybrid male sterility in rice.

    Science.gov (United States)

    Shen, Rongxin; Wang, Lan; Liu, Xupeng; Wu, Jiang; Jin, Weiwei; Zhao, Xiucai; Xie, Xianrong; Zhu, Qinlong; Tang, Huiwu; Li, Qing; Chen, Letian; Liu, Yao-Guang

    2017-11-03

    Hybrids between divergent populations commonly show hybrid sterility; this reproductive barrier hinders hybrid breeding of the japonica and indica rice (Oryza sativa L.) subspecies. Here we show that structural changes and copy number variation at the Sc locus confer japonica-indica hybrid male sterility. The japonica allele, Sc-j, contains a pollen-essential gene encoding a DUF1618-domain protein; the indica allele, Sc-i, contains two or three tandem-duplicated ~ 28-kb segments, each carrying an Sc-j-homolog with a distinct promoter. In Sc-j/Sc-i hybrids, the high-expression of Sc-i in sporophytic cells causes suppression of Sc-j expression in pollen and selective abortion of Sc-j-pollen, leading to transmission ratio distortion. Knocking out one or two of the three Sc-i copies by CRISPR/Cas9 rescues Sc-j expression and male fertility. Our results reveal the gene dosage-dependent allelic suppression as a mechanism of hybrid incompatibility, and provide an effective approach to overcome the reproductive barrier for hybrid breeding.

  19. Importance of high-density lipoprotein cholesterol levels in elderly diabetic individuals with type IIb dyslipidemia: A 2-year survey of cardiovascular events.

    Science.gov (United States)

    Ina, Koichiro; Hayashi, Toshio; Araki, Atsushi; Kawashima, Seinosuke; Sone, Hirohito; Watanabe, Hiroshi; Ohrui, Takashi; Yokote, Koutaro; Takemoto, Minoru; Kubota, Kiyoshi; Noda, Mitsuhiko; Noto, Hiroshi; Ding, Qun-Fang; Zhang, Jie; Yu, Ze-Yun; Yoon, Byung-Koo; Nomura, Hideki; Kuzuya, Masafumi

    2014-10-01

    The risk factors for ischemic heart disease (IHD) or cerebrovascular accident (CVA) in elderly diabetic individuals with type IIb dyslipidemia are not fully known. Therefore, we investigated the relationship between lipid levels and IHD and CVA in diabetic individuals with type IIb dyslipidemia. The Japan Cholesterol and Diabetes Mellitus Study is a prospective cohort study of 4014 type 2 diabetic patients (1936 women; age 67.4 ± 9.5 years). The primary end-points were the onset of IHD or CVA. Lipid and glucose levels, and other factors were investigated in relation to the occurrence of IHD or CVA. A total of 462 participants were included in the group of patients with type IIb dyslipidemia. The 462 diabetic participants with type IIb dyslipidemia were divided into those who were aged 75 years (n=168, 190 and 104, respectively). High-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol/HDL-C were significantly associated with the risk of cardiovascular events in diabetic individuals with type IIb dyslipidemia who were aged dyslipidemia who were aged dyslipidemia who were aged <75 years. © 2013 Japan Geriatrics Society.

  20. Polycystic Ovary Syndrome and Increased Soluble Tumor Necrosis Factor Like Weak Inducer of Apoptosis Levels Are Independent Predictors of Dyslipidemia in Youth.

    Science.gov (United States)

    Erkenekli, Kudret; Oztas, Efser; Kuscu, Elif; Keskin, Uğur; Kurt, Yasemin Gulcan; Tas, Ahmet; Yilmaz, Nafiye

    2017-01-01

    Dyslipidemia is common in women with polycystic ovary syndrome (PCOS) irrespective of age. Our aim was to investigate soluble tumor necrosis factor like weak inducer of apoptosis (sTWEAK), a cardiovascular risk marker in PCOS, and to determine if it is associated with dyslipidemia in youth. A prospective-observational study was carried out including 35 PCOS patients and 35 healthy controls. Serum sTWEAK levels were measured using commercially available kits. Multiple logistic regression analysis was then performed to verify the statistically significant differences in the possible predictors of dyslipidemia. Serum sTWEAK levels and the percentage of women with dyslipidemia were significantly higher in the PCOS group (p = 0.024 and p dyslipidemia. The percentage of women with PCOS was significantly higher in the dyslipidemic group when compared with controls; 70.7 vs. 20.7%, respectively (p 693 pg/ml; OR 3.810, 95% CI 1.075-13.501, p = 0.038) were independently associated with dyslipidemia. Increased levels of both sTWEAK and PCOS were found to be independently associated with dyslipidemia in youth. © 2016 S. Karger AG, Basel.

  1. Detecting imbalanced expression of SNP alleles by minisequencing on microarrays

    Directory of Open Access Journals (Sweden)

    Dahlgren Andreas

    2004-10-01

    Full Text Available Abstract Background Each of the human genes or transcriptional units is likely to contain single nucleotide polymorphisms that may give rise to sequence variation between individuals and tissues on the level of RNA. Based on recent studies, differential expression of the two alleles of heterozygous coding single nucleotide polymorphisms (SNPs may be frequent for human genes. Methods with high accuracy to be used in a high throughput setting are needed for systematic surveys of expressed sequence variation. In this study we evaluated two formats of multiplexed, microarray based minisequencing for quantitative detection of imbalanced expression of SNP alleles. We used a panel of ten SNPs located in five genes known to be expressed in two endothelial cell lines as our model system. Results The accuracy and sensitivity of quantitative detection of allelic imbalance was assessed for each SNP by constructing regression lines using a dilution series of mixed samples from individuals of different genotype. Accurate quantification of SNP alleles by both assay formats was evidenced for by R2 values > 0.95 for the majority of the regression lines. According to a two sample t-test, we were able to distinguish 1–9% of a minority SNP allele from a homozygous genotype, with larger variation between SNPs than between assay formats. Six of the SNPs, heterozygous in either of the two cell lines, were genotyped in RNA extracted from the endothelial cells. The coefficient of variation between the fluorescent signals from five parallel reactions was similar for cDNA and genomic DNA. The fluorescence signal intensity ratios measured in the cDNA samples were compared to those in genomic DNA to determine the relative expression levels of the two alleles of each SNP. Four of the six SNPs tested displayed a higher than 1.4-fold difference in allelic ratios between cDNA and genomic DNA. The results were verified by allele-specific oligonucleotide hybridisation and

  2. Drop-out probabilities of IrisPlex SNP alleles

    DEFF Research Database (Denmark)

    Andersen, Jeppe Dyrberg; Tvedebrink, Torben; Mogensen, Helle Smidt

    2013-01-01

    In certain crime cases, information about a perpetrator's phenotype, including eye colour, may be a valuable tool if no DNA profile of any suspect or individual in the DNA database matches the DNA profile found at the crime scene. Often, the available DNA material is sparse and allelic drop-out...... of true alleles is possible. As part of the validation of the IrisPlex assay in our ISO17025 accredited, forensic genetic laboratory, we estimated the probability of drop-out of specific SNP alleles using 29 and 30 PCR cycles and 25, 50 and 100 Single Base Extension (SBE) cycles. We observed no drop-out...... when the amount of DNA was greater than 125 pg for 29 cycles of PCR and greater than 62 pg for 30 cycles of PCR. With the use of a logistic regression model, we estimated the allele specific probability of drop-out in heterozygote systems based on the signal strength of the observed allele...

  3. Common breast cancer risk alleles and risk assessment

    DEFF Research Database (Denmark)

    Näslund-Koch, C; Nordestgaard, B G; Bojesen, S E

    2017-01-01

    general population were followed in Danish health registries for up to 21 years after blood sampling. After genotyping 72 breast cancer risk loci, each with 0-2 alleles, the sum for each individual was calculated. We used the simple allele sum instead of the conventional polygenic risk score......, as it is likely more sensitive in detecting associations with risks of other endpoints than breast cancer. RESULTS: Breast cancer incidence in the 19,010 women was increased across allele sum quintiles (log-rank trend test; p=1*10(-12)), but not incidence of other cancers (p=0.41). Age- and study-adjusted hazard...... ratio for the 5(th) vs. 1(st) allele sum quintile was 1.82(95% confidence interval;1.53-2.18). Corresponding hazard ratios per allele were 1.04(1.03-1.05) and 1.05(1.02-1.08) for breast cancer incidence and mortality, similar across risk factors. In 50-year old women, the starting age for screening...

  4. HLA-A AND HLA-B ALLELES ASSOCIATED IN PSORIASIS PATIENTS FROM MUMBAI, WESTERN INDIA

    Science.gov (United States)

    Umapathy, Shankarkumar; Pawar, Aruna; Mitra, R; Khuperkar, D; Devaraj, J P; Ghosh, K; Khopkar, U

    2011-01-01

    Background: Psoriasis, a common autoimmune disorder characterized by T cell-mediated keratinocyte hyperproliferation, is known to be associated with the presence of certain specific Human Leukocyte Antigen (HLA) alleles. Aim: To evaluate distribution of HLA-A and HLA-B alleles and hence identify the susceptible allele of psoriasis from patients in Western India. Materials and Methods: The study design included 84 psoriasis patients and 291 normal individuals as controls from same geographical region. HLA-A and HLA-B typing was done using Serology typing. Standard statistical analysis was followed to identify the odds ratio (OR), allele frequencies, and significant P value using Graphpad software. Results: The study revealed significant increase in frequencies of HLA-A2 (OR-3.976, P<0.0001), B8 (OR-5.647, P<0.0001), B17 (OR-5.452, P<0.0001), and B44 (OR-50.460, P<0.0001), when compared with controls. Furthermore, the frequencies of HLA-A28 (OR-0.074, P=0.0024), B5 (OR-0.059, P<0.0001), B12 (OR-0.051, P=0.0002), and B15 (OR-0.237, P=0.0230) were significantly decreased in psoriasis patients. Conclusion: This study shows the strong association of HLA-A2, B8, and B17 antigens with psoriasis conferring susceptibility to psoriasis patients from Western India, while the antigens HLA-A28, B5, and B12 show strong negative association with the disease. PMID:22121262

  5. A small asparagine-rich protein required for S-allele-specific pollen rejection in Nicotiana.

    Science.gov (United States)

    McClure, B; Mou, B; Canevascini, S; Bernatzky, R

    1999-11-09

    Although S-locus RNases (S-RNases) determine the specificity of pollen rejection in self-incompatible (SI) solanaceous plants, they alone are not sufficient to cause S-allele-specific pollen rejection. To identify non-S-RNase sequences that are required for pollen rejection, a Nicotiana alata cDNA library was screened by differential hybridization. One clone, designated HT, hybridized strongly to RNA from N. alata styles but not to RNA from Nicotiana plumbaginifolia, a species known to lack one or more factors necessary for S-allele-specific pollen rejection. Sequence analysis revealed a 101-residue ORF including a putative secretion signal and an asparagine-rich domain near the C terminus. RNA blot analysis showed that the HT-transcript accumulates in the stigma and style before anthesis. The timing of HT-expression lags slightly behind S(C10)-RNase in SI N. alata S(C10)S(C10) and is well correlated with the onset of S-allele-specific pollen rejection in the style. An antisense-HT construct was prepared to test for a role in pollen rejection. Transformed (N. plumbaginifolia x SI N. alata S(C10)S(C10)) hybrids with reduced levels of HT-protein continued to express S(C10)-RNase but failed to reject S(C10)-pollen. Control hybrids expressing both S(C10)-RNase and HT-protein showed a normal S-allele-specific pollen rejection response. We conclude that HT-protein is directly implicated in pollen rejection.

  6. A strategy to discover genes that carry multi-allelic or mono-allelic risk for common diseases: A cohort allelic sums test (CAST)

    International Nuclear Information System (INIS)

    Morgenthaler, Stephan; Thilly, William G.

    2007-01-01

    A method is described to discover if a gene carries one or more allelic mutations that confer risk for any specified common disease. The method does not depend upon genetic linkage of risk-conferring mutations to high frequency genetic markers such as single nucleotide polymorphisms. Instead, the sums of allelic mutation frequencies in case and control cohorts are determined and a statistical test is applied to discover if the difference in these sums is greater than would be expected by chance. A statistical model is presented that defines the ability of such tests to detect significant gene-disease relationships as a function of case and control cohort sizes and key confounding variables: zygosity and genicity, environmental risk factors, errors in diagnosis, limits to mutant detection, linkage of neutral and risk-conferring mutations, ethnic diversity in the general population and the expectation that among all exonic mutants in the human genome greater than 90% will be neutral with regard to any effect on disease risk. Means to test the null hypothesis for, and determine the statistical power of, each test are provided. For this 'cohort allelic sums test' or 'CAST', the statistical model and test are provided as an Excel (TM) program, CASTAT (C) at http://epidemiology.mit.edu. Based on genetics, technology and statistics, a strategy of enumerating the mutant alleles carried in the exons and splice sites of the estimated ∼25,000 human genes in case cohort samples of 10,000 persons for each of 100 common diseases is proposed and evaluated: A wide range of possible conditions of multi-allelic or mono-allelic and monogenic, multigenic or polygenic (including epistatic) risk are found to be detectable using the statistical criteria of 1 or 10 ''false positive'' gene associations per 25,000 gene-disease pair-wise trials and a statistical power of >0.8. Using estimates of the distribution of both neutral and gene-inactivating nondeleterious mutations in humans and

  7. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Guerra-Júnior Gil

    2010-06-01

    approaches revealed nine haplotypes for deleted 21-hydroxylase deficiency alleles. Conclusions This study demonstrated high allelic variability for 30-kb deletion in patients with 21-hydroxylase deficiency indicating that a founder effect might be improbable for most monomodular alleles carrying CYP21A1P/A2 chimeric genes in Brazil.

  8. The murine Cd48 gene: allelic polymorphism in the IgV-like region.

    Science.gov (United States)

    Cabrero, J G; Freeman, G J; Reiser, H

    1998-12-01

    The murine CD48 molecule is a member of the immunoglobulin superfamily which regulates the activation of T lymphocytes. prior cloning experiments using mRNA from two different mouse strains had yielded discrepant sequences within the IgV-like domain of murine CD48. To resolve this issue, we have directly sequenced genomic DNA of 10 laboratory strains and two inbred strains of wild origin. The results of our analysis reveal an allelic polymorphism within the IgV-like domain of murine CD48.

  9. Structural comparisons of two allelic variants of human placental alkaline phosphatase.

    Science.gov (United States)

    Millán, J L; Stigbrand, T; Jörnvall, H

    1985-01-01

    A simple immunosorbent purification scheme based on monoclonal antibodies has been devised for human placental alkaline phosphatase. The two most common allelic variants, S and F, have similar amino acid compositions with identical N-terminal amino acid sequences through the first 13 residues. Both variants have identical lectin binding properties towards concanavalin A, lentil-lectin, wheat germ agglutinin, phytohemagglutinin and soybean agglutinin, and identical carbohydrate contents as revealed by methylation analysis. CNBr fragments of the variants demonstrate identical high performance liquid chromatography patterns. The carbohydrate containing fragment is different from the 32P-labeled active site fragment and the N-terminal fragment.

  10. Population differentiation in allele frequencies of obesity-associated SNPs.

    Science.gov (United States)

    Mao, Linyong; Fang, Yayin; Campbell, Michael; Southerland, William M

    2017-11-10

    Obesity is emerging as a global health problem, with more than one-third of the world's adult population being overweight or obese. In this study, we investigated worldwide population differentiation in allele frequencies of obesity-associated SNPs (single nucleotide polymorphisms). We collected a total of 225 obesity-associated SNPs from a public database. Their population-level allele frequencies were derived based on the genotype data from 1000 Genomes Project (phase 3). We used hypergeometric model to assess whether the effect allele at a given SNP is significantly enriched or depleted in each of the 26 populations surveyed in the 1000 Genomes Project with respect to the overall pooled population. Our results indicate that 195 out of 225 SNPs (86.7%) possess effect alleles significantly enriched or depleted in at least one of the 26 populations. Populations within the same continental group exhibit similar allele enrichment/depletion patterns whereas inter-continental populations show distinct patterns. Among the 225 SNPs, 15 SNPs cluster in the first intron region of the FTO gene, which is a major gene associated with body-mass index (BMI) and fat mass. African populations exhibit much smaller blocks of LD (linkage disequilibrium) among these15 SNPs while European and Asian populations have larger blocks. To estimate the cumulative effect of all variants associated with obesity, we developed the personal composite genetic risk score for obesity. Our results indicate that the East Asian populations have the lowest averages of the composite risk scores, whereas three European populations have the highest averages. In addition, the population-level average of composite genetic risk scores is significantly correlated (R 2 = 0.35, P = 0.0060) with obesity prevalence. We have detected substantial population differentiation in allele frequencies of obesity-associated SNPs. The results will help elucidate the genetic basis which may contribute to population

  11. A common mutation associated with the Duarte galactosemia allele

    Energy Technology Data Exchange (ETDEWEB)

    Elsas, L.J.; Dembure, P.P.; Langley, S.; Paulk, E.M.; Hjelm, L.N.; Fridovich-Keil, J. (Emory Univ. School of Medicine, Atlanta, GA (United States))

    1994-06-01

    The human cDNA and gene for galactose-1-phosphate uridyl transferase (GALT) have been cloned and sequenced. A prevalant mutation (Q188R) is known to cause classic galactosemia (G/G). G/G galactosemia has an incidence of 1/38,886 in 1,396,766 Georgia live-born infants, but a more common variant of galactosemia, Duarte, has an unknown incidence. The proposed Duarte biochemical phenotypes of GALT are as follows: D/N, D/D, and D/G, which have [approximately]75%, 50%, and 25% of normal GALT activity, respectively. In addition, the D allele has isoforms of its enzyme that have more acidic pI than normal. Here the authors systematically determine (a) the prevalence of an A-to-G transition at base pair 2744 of exon 10 in the GALT gene, a transition that produces a codon change converting asparagine to aspartic acid at position 314 (N314D), and (b) the association of this mutation with the Duarte biochemical phenotype. The 2744G nucleotide change adds an AvaII (SinI) cut site, which was identified in PCR-amplified DNA. In 111 biochemically unphenotyped controls with no history of galactosemia, 13 N314D alleles were identified (prevalence 5.9%). In a prospective study, 40 D alleles were biochemically phenotyped, and 40 N314D alleles were found. By contrast, in 36 individuals known not to have the Duarte biochemical phenotype, no N314D alleles were found. The authors conclude that the N314D mutation is a common allele that probably causes the Duarte GALT biochemical phenotype and occurs in a predominantly Caucasian, nongalactosemic population, with a prevalence of 5.9%. 36 refs., 3 figs., 2 tabs.

  12. Distribution of a pseudodeficiency allele among Tay-Sachs carriers

    Energy Technology Data Exchange (ETDEWEB)

    Tomczak, J.; Grebner, E.E. (Thomas Jefferson Univ., Philadelphia, PA (United States)); Boogen, C. (Univ. of Essen Medical School (Germany))

    1993-08-01

    Recently Triggs-Raine et al. (1992) identified a new mutation in the gene coding for the [alpha]-subunit of [beta]-hexosaminidase A (hex A), the enzyme whose deficiency causes Tay-Sachs disease. This mutation, a C[sub 739]-to-T transition in exon 7, results in an altered enzyme that is active (albeit at reduced levels) in cells but that has essentially no activity in serum. This so-called pseudodeficient allele was first detected in compound heterozygotes who also carried a Tay-Sachs disease allele and therefore had no detectable hex A in their serum but who were in good health. Carriers of this apparently benign mutation are generally indistinguishable from carriers of a lethal mutation by means of routine enzyme-based screening tests, because the product of the pseudodeficient allele is not detectable in serum and has decreased activity in cells. This suggests that some individuals who have been classified as Tay-Sachs carriers are actually carriers of the pseudodeficient allele and are not at risk to have a child affected with Tay-Sachs disease. The pseudodeficient allele may also be responsible for some inconclusive diagnoses, where leukocyte values fall below the normal range but are still above the carrier range. The fact that there are now two mutant alleles (the psuedodeficient and the adult) that are indistinguishable from the lethal infantile mutations by means of enzyme assay yet that are phenotypically very different and that together may account for as much as 12% of enzyme-defined carriers on the basis of the data here suggests that DNA analysis should be part of a comprehensive screening program. It will be particularly useful to identify the mutations in couples at risk, before they undergo prenatal diagnosis. DNA analysis will also resolve some inconclusive diagnoses.

  13. Analysis of nucleotide diversity among alleles of the major bacterial blight resistance gene Xa27 in cultivars of rice (Oryza sativa) and its wild relatives.

    Science.gov (United States)

    Bimolata, Waikhom; Kumar, Anirudh; Sundaram, Raman Meenakshi; Laha, Gouri Shankar; Qureshi, Insaf Ahmed; Reddy, Gajjala Ashok; Ghazi, Irfan Ahmad

    2013-08-01

    Xa27 is one of the important R-genes, effective against bacterial blight disease of rice caused by Xanthomonas oryzae pv. oryzae (Xoo). Using natural population of Oryza, we analyzed the sequence variation in the functionally important domains of Xa27 across the Oryza species. DNA sequences of Xa27 alleles from 27 rice accessions revealed higher nucleotide diversity among the reported R-genes of rice. Sequence polymorphism analysis revealed synonymous and non-synonymous mutations in addition to a number of InDels in non-coding regions of the gene. High sequence variation was observed in the promoter region including the 5'UTR with 'π' value 0.00916 and 'θ w ' = 0.01785. Comparative analysis of the identified Xa27 alleles with that of IRBB27 and IR24 indicated the operation of both positive selection (Ka/Ks > 1) and neutral selection (Ka/Ks ≈ 0). The genetic distances of alleles of the gene from Oryza nivara were nearer to IRBB27 as compared to IR24. We also found the presence of conserved and null UPT (upregulated by transcriptional activator) box in the isolated alleles. Considerable amino acid polymorphism was localized in the trans-membrane domain for which the functional significance is yet to be elucidated. However, the absence of functional UPT box in all the alleles except IRBB27 suggests the maintenance of single resistant allele throughout the natural population.

  14. Reduced Height (Rht Alleles Affect Wheat Grain Quality.

    Directory of Open Access Journals (Sweden)

    Richard Casebow

    Full Text Available The effects of dwarfing alleles (reduced height, Rht in near isogenic lines on wheat grain quality are characterised in field experiments and related to effects on crop height, grain yield and GA-sensitivity. Alleles included those that conferred GA-insensitivity (Rht-B1b, Rht-B1c, Rht-D1b, Rht-D1c as well as those that retained GA-sensitivity (rht(tall, Rht8, Rht8 + Ppd-D1a, Rht12. Full characterisation was facilitated by including factors with which the effects of Rht alleles are known to interact for grain yield (i.e. system, [conventional or organic]; tillage intensity [plough-based, minimum or zero]; nitrogen fertilizer level [0-450 kg N/ha]; and genetic backgrounds varying in height [cvs Maris Huntsman, Maris Widgeon, and Mercia]. Allele effects on mean grain weight and grain specific weight were positively associated with final crop height: dwarfing reduced these quality criteria irrespective of crop management or GA-sensitivity. In all but two experiments the effects of dwarfing alleles on grain nitrogen and sulphur concentrations were closely and negatively related to effects on grain yield, e.g. a quadratic relationship between grain yield and crop height manipulated by the GA-insensitive alleles was mirrored by quadratic relationships for nitrogen and sulphur concentrations: the highest yields and most dilute concentrations occurred around 80cm. In one of the two exceptional experiments the GA-insensitive Rht-B1b and Rht-B1c significantly (P<0.05 reduced grain nitrogen concentration in the absence of an effect on yield, and in the remaining experiment the GA-sensitive Rht8 significantly reduced both grain yield and grain nitrogen concentration simultaneously. When Rht alleles diluted grain nitrogen concentration, N:S ratios and SDS-sedimentation volumes were often improved. Hagberg falling number (HFN was negatively related to crop height but benefits from dwarfing were only seen for GA-insensitive alleles. For HFN, therefore, there

  15. Reduced Height (Rht) Alleles Affect Wheat Grain Quality.

    Science.gov (United States)

    Casebow, Richard; Hadley, Caroline; Uppal, Rajneet; Addisu, Molla; Loddo, Stefano; Kowalski, Ania; Griffiths, Simon; Gooding, Mike

    2016-01-01

    The effects of dwarfing alleles (reduced height, Rht) in near isogenic lines on wheat grain quality are characterised in field experiments and related to effects on crop height, grain yield and GA-sensitivity. Alleles included those that conferred GA-insensitivity (Rht-B1b, Rht-B1c, Rht-D1b, Rht-D1c) as well as those that retained GA-sensitivity (rht(tall), Rht8, Rht8 + Ppd-D1a, Rht12). Full characterisation was facilitated by including factors with which the effects of Rht alleles are known to interact for grain yield (i.e. system, [conventional or organic]; tillage intensity [plough-based, minimum or zero]; nitrogen fertilizer level [0-450 kg N/ha]; and genetic backgrounds varying in height [cvs Maris Huntsman, Maris Widgeon, and Mercia]. Allele effects on mean grain weight and grain specific weight were positively associated with final crop height: dwarfing reduced these quality criteria irrespective of crop management or GA-sensitivity. In all but two experiments the effects of dwarfing alleles on grain nitrogen and sulphur concentrations were closely and negatively related to effects on grain yield, e.g. a quadratic relationship between grain yield and crop height manipulated by the GA-insensitive alleles was mirrored by quadratic relationships for nitrogen and sulphur concentrations: the highest yields and most dilute concentrations occurred around 80cm. In one of the two exceptional experiments the GA-insensitive Rht-B1b and Rht-B1c significantly (Pgrain nitrogen concentration in the absence of an effect on yield, and in the remaining experiment the GA-sensitive Rht8 significantly reduced both grain yield and grain nitrogen concentration simultaneously. When Rht alleles diluted grain nitrogen concentration, N:S ratios and SDS-sedimentation volumes were often improved. Hagberg falling number (HFN) was negatively related to crop height but benefits from dwarfing were only seen for GA-insensitive alleles. For HFN, therefore, there was the strongest evidence for

  16. A common allele on chromosome 9 associated with coronary heartdisease

    Energy Technology Data Exchange (ETDEWEB)

    McPherson, Ruth; Pertsemlidis, Alexander; Kavaslar, Nihan; Stewart, Alexandre; Roberts, Robert; Cox, David R.; Hinds, David; Pennachio, Len; Tybjaerg-Hansen, Anne; Folsom, Aaron R.; Boerwinkle,Eric; Hobbs, Helen H.; Cohen, Jonathan C.

    2007-03-01

    Coronary heart disease (CHD) is a major cause of death in Western countries. Here we used genome-wide association scanning to identify a 58 kb interval on chromosome 9 that was consistently associated with CHD in six independent samples. The interval contains no annotated genes and is not associated with established CHD risk factors such as plasma lipoproteins, hypertension or diabetes. Homozygotes for the risk allele comprise 20-25% of Caucasians and have a {approx}30-40% increased risk of CHD. These data indicate that the susceptibility allele acts through a novel mechanism to increase CHD risk in a large fraction of the population.

  17. Dyslipidemia in primary care – prevalence, recognition, treatment and control: data from the German Metabolic and Cardiovascular Risk Project (GEMCAS

    Directory of Open Access Journals (Sweden)

    Wasem Jürgen

    2008-10-01

    Full Text Available Abstract Background Current guidelines from the European Society of Cardiology (ESC define low thresholds for the diagnosis of dyslipidemia using total cholesterol (TC and LDL-cholesterol (LDL-C to guide treatment. Although being mainly a prevention tool, its thresholds are difficult to meet in clinical practice, especially primary care. Methods In a nationwide study with 1,511 primary care physicians and 35,869 patients we determined the prevalence of dyslipidemia, its recognition, treatment, and control rates. Diagnosis of dyslipidemia was based on TC and LDL-C. Basic descriptive statistics and prevalence rate ratios, as well as 95% confidence intervals were calculated. Results Dyslipidemia was highly frequent in primary care (76% overall. 48.6% of male and 39.9% of female patients with dyslipidemia was diagnosed by the physicians. Life style intervention did however control dyslipidemia in about 10% of patients only. A higher proportion (34.1% of male and 26.7% female was controlled when receiving pharmacotherapy. The chance to be diagnosed and subsequently controlled using pharmacotherapy was higher in male (PRR 1.15; 95%CI 1.12–1.17, in patients with concomitant cardiovascular risk factors, in patients with hypertension (PRR 1.20; 95%CI 1.05–1.37 and cardiovascular disease (PRR 1.46; 95%CI 1.29–1.64, previous myocardial infarction (PRR 1.32; 95%CI 1.19–1.47, and if patients knew to be hypertensive (PRR 1.18; 95%CI 1.04–1.34 or knew about their prior myocardial infarction (PRR 1.17; 95%CI 1.23–1.53. Conclusion Thresholds of the ESC seem to be difficult to meet. A simple call for more aggressive treatment or higher patient compliance is apparently not enough to enhance the proportion of controlled patients. A shift towards a multifactorial treatment considering lifestyle interventions and pharmacotherapy to reduce weight and lipids may be the only way in a population where just to be normal is certainly not ideal.

  18. Prevalence of atherogenic dyslipidemia in primary care patients at moderate-very high risk of cardiovascular disease. Cardiovascular risk perception.

    Science.gov (United States)

    Plana, Nuria; Ibarretxe, Daiana; Cabré, Anna; Ruiz, Emilio; Masana, Lluis

    2014-01-01

    Atherogenic dyslipidemia is an important risk factor for cardiovascular disease. We aim to determine atherogenic dyslipidemia prevalence in primary care patients at moderate-very high cardiovascular risk and its associated cardiovascular risk perception in Spain. This cross-sectional study included 1137 primary care patients. Patients had previous cardiovascular disease, diabetes mellitus, SCORE risk ≥ 3, severe hypertension or dyslipidemia. Atherogenic dyslipidemia was defined as low HDL-C (<40 mg/dL [males], <50 mg/dL [females]) and elevated triglycerides (≥ 150 mg/dL). A visual analog scale was used to define a perceived cardiovascular disease risk score. Mean age was 63.9 ± 9.7 years (64.6% males). The mean BMI was 29.1 ± 4.3 kg/m(2), and mean waist circumference 104.2 ± 12.7 cm (males), and 97.2 ± 14.0 cm (females). 29.4% were smokers, 76.4% had hypertension, 48.0% were diabetics, 24.7% had previous myocardial infarction, and 17.8% peripheral arterial disease. European guidelines classified 83.6% at very high cardiovascular risk. Recommended HDL-C levels were achieved by 50.1% of patients and 37.3% had triglycerides in the reference range. Target LDL-C was achieved by 8.8%. The overall atherogenic dyslipidemia prevalence was 27.1% (34.1% in diabetics). This prevalence in patients achieving target LDL-C was 21.4%. Cardiovascular risk perceived by patients was 4.3/10, while primary care physicians scored 5.7/10. When LDL-C levels are controlled, atherogenic dyslipidemia is more prevalent in those patients at highest cardiovascular risk and with diabetes. This highlights the importance of intervention strategies to prevent the residual vascular risk in this population. Both patients and physicians underestimated cardiovascular risk. Copyright © 2014 Sociedad Española de Arteriosclerosis. Published by Elsevier España. All rights reserved.

  19. Characterization of a New Pm2 Allele Conferring Powdery Mildew Resistance in the Wheat Germplasm Line FG-1

    Science.gov (United States)

    Ma, Pengtao; Xu, Hongxng; Li, Lihui; Zhang, Hongxia; Han, Guohao; Xu, Yunfeng; Fu, Xiaoyi; Zhang, Xiaotian; An, Diaoguo

    2016-01-01

    Powdery mildew has a negative impact on wheat production. Novel host resistance increases the diversity of resistance genes and helps to control the disease. In this study, wheat line FG-1 imported from France showed a high level of powdery mildew resistance at both the seedling and adult stages. An F2 population and F2:3 families from the cross FG-1 × Mingxian 169 both fit Mendelian ratios for a single dominant resistance gene when tested against multiple avirulent Blumeria tritici f. sp. tritici (Bgt) races. This gene was temporarily designated PmFG. PmFG was mapped on the multi-allelic Pm2 locus of chromosome 5DS using seven SSR, 10 single nucleotide polymorphism (SNP)-derived and two SCAR markers with the flanking markers Xbwm21/Xcfd81/Xscar112 (distal) and Xbwm25 (proximal) at 0.3 and 0.5 cM being the closest. Marker SCAR203 co-segregated with PmFG. Allelism tests between PmFG and documented Pm2 alleles confirmed that PmFG was allelic with Pm2. Line FG-1 produced a significantly different reaction pattern compared to other lines with genes at or near Pm2 when tested against 49 Bgt isolates. The PmFG-linked marker alleles detected by the SNP-derived markers revealed significant variation between FG-1 and other lines with genes at or near Pm2. It was concluded that PmFG is a new allele at the Pm2 locus. Data from seven closely linked markers tested on 31 wheat cultivars indicated opportunities for marker-assisted pyramiding of this gene with other genes for powdery mildew resistance and additional traits. PMID:27200022

  20. Transcriptional profiling of human liver identifies sex-biased genes associated with polygenic dyslipidemia and coronary artery disease.

    Directory of Open Access Journals (Sweden)

    Yijing Zhang

    Full Text Available Sex-differences in human liver gene expression were characterized on a genome-wide scale using a large liver sample collection, allowing for detection of small expression differences with high statistical power. 1,249 sex-biased genes were identified, 70% showing higher expression in females. Chromosomal bias was apparent, with female-biased genes enriched on chrX and male-biased genes enriched on chrY and chr19, where 11 male-biased zinc-finger KRAB-repressor domain genes are distributed in six clusters. Top biological functions and diseases significantly enriched in sex-biased genes include transcription, chromatin organization and modification, sexual reproduction, lipid metabolism and cardiovascular disease. Notably, sex-biased genes are enriched at loci associated with polygenic dyslipidemia and coronary artery disease in genome-wide association studies. Moreover, of the 8 sex-biased genes at these loci, 4 have been directly linked to monogenic disorders of lipid metabolism and show an expression profile in females (elevated expression of ABCA1, APOA5 and LDLR; reduced expression of LIPC that is consistent with the lower female risk of coronary artery disease. Female-biased expression was also observed for CYP7A1, which is activated by drugs used to treat hypercholesterolemia. Several sex-biased drug-metabolizing enzyme genes were identified, including members of the CYP, UGT, GPX and ALDH families. Half of 879 mouse orthologs, including many genes of lipid metabolism and homeostasis, show growth hormone-regulated sex-biased expression in mouse liver, suggesting growth hormone might play a similar regulatory role in human liver. Finally, the evolutionary rate of protein coding regions for human-mouse orthologs, revealed by dN/dS ratio, is significantly higher for genes showing the same sex-bias in both species than for non-sex-biased genes. These findings establish that human hepatic sex differences are widespread and affect diverse cell

  1. Patient considerations and clinical impact of cholesteryl ester transfer protein inhibitors in the management of dyslipidemia: focus on anacetrapib

    Directory of Open Access Journals (Sweden)

    Miyares MA

    2012-08-01

    Full Text Available Marta A Miyares, Kyle DavisPharmacy Department, Jackson Memorial Hospital, Miami, FL, USAAbstract: Cardiovascular disease (CVD is responsible for significant morbidity and mortality within the United States and worldwide. Although targeting low-density lipoprotein cholesterol (LDL-C in the prevention of CVD has been shown to be effective, evidence exists to indicate that significant cardiovascular (CV risk remains in patients receiving 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors (statins – a risk that may be correlated with low levels of high-density lipoprotein cholesterol (HDL-C. Among the various tactics under investigation to increase HDL-C, inhibition of cholesteryl ester transfer protein (CETP appears the most adept to raise these levels. Although torcetrapib, a CETP inhibitor, demonstrated significant beneficial changes in HDL-C and LDL-C after 12 months of therapy when coadministered with atorvastatin, patients in the torcetrapib arm experienced a rise in mortality, including increased risk of death from CV and non-CV causes as well as a significant rise in major CV events. Later studies established that the adverse effects of torcetrapib were produced from molecule-specific off-target effects and not to the mechanism of CETP inhibition. These untoward outcomes have not been detected with anacetrapib, the third of the CETP inhibitors to enter Phase III trials. Furthermore, treatment with anacetrapib revealed both a statistically significant decrease in LDL-C and increase in HDL-C over placebo. While the place in therapy of niacin and fibrates to reduce CV events is currently in question secondary to the Atherothrombosis Intervention in Metabolic Syndrome with Low HDL Cholesterol/High Triglyceride and Impact on Global Health Outcomes and the Action to Control CV Risk in Diabetes trials, the ongoing large-scale, randomized–placebo, controlled-outcomes study with anacetrapib coadministered with statin treatment will not

  2. Tinospora cordifolia stem supplementation in diabetic dyslipidemia: an open labelled randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Kuhu Roy

    2015-08-01

    Full Text Available Background: Medicinal plants are powerful health promoting nutritional agents. Among the vast library of medicinal plants Tinospora cordifolia (Willd. has been meagrely explored. It belongs to the family Menispermaceae and is a rich source of alkaloid and terpenes. It has hepatoprotective, antioxidant, immunostimulatory, hyperlipidemic, anticancer and antidiabetic properties. The stem contains berberine, palmatine, tembetarine, magnoflorine, tinosporin, tinocordifolin. The stem starch is highly nutritive and digestive. In modern medicine it is called the magical rejuvenating herb owing to its properties to cure many diseases. The stem contains higher alkaloid content than the leaves because of which it is approved for medicinal usage. With a host of phytochemical properties present in the stem, it may hold potential to manage dyslipidemia and dysglycemia, which otherwise has been proven only in pre-clinical studies. Objective: To study the impact of tinospora cordifolia stem supplementation on the glycemic and lipemic profile of subjects with diabetic dyslipidemia. Methods: Type 2 diabetics with dyslipidemia on oral hypoglycemic agents were enrolled. Baseline data on medical history, family history of lifestyle diseases, duration of diabetes diagnosis, drug profile, anthropometric data, dietary data and physical activity data was obtained along with a fasting blood sample for estimating high sensitivity C reactive protein (hs-CRP, hepatic, renal, lipid profile and glycated hemoglobin. The participants were randomized into either of the two groups; intervention group (n=29 received 250mg of encapsulated mature stem of tinospora cordifolia pre meal twice a day along with prescribed dyslipidemic agent and control group (n=30 only on dyslipidemic agents for a period of 60 days. After 60 days all the parameters were re-assessed to analyse the impact of the intervention. Results: Majority of the subjects in both the arms were in the 50-60 years age

  3. Dyslipidemias in type II mellitus patients in a teaching hospital of Lahore, Pakistan

    International Nuclear Information System (INIS)

    Naheed, T.; Khan, A.; Masood, G.; Bilal-Bin-Yunus; Chaudhry, M.A.

    2003-01-01

    Subject: One hundred consecutive type II diabetics between the age of 40-70 years. Those who had hyperlipidemia due to other causes e.g. nephrotic syndrome, hypothyroidism and type-I diabetes mellitus were excluded. Results: One hundred patients suffering from type II diabetes were included in the study. Out of these 64% were females and 36% were males. The age range was 41-70 years with mean of 56.1 plus minus 9.38. Out of these 100 patients, duration of diabetes mellitus of less than 10 years was noted in 43% of patients and more than 10 years in 57%. Random blood sugar was 229.34 plus minus 6.23 and fasting blood sugar was 153.5 plus minus 4.45 when it was seen in the total study subjects, random blood sugar 210.51 plus minus 7.68 and fasting blood sugar 143.83 plus minus 5.35 in sub group whose duration of illness was less than 10 years. In sub group whose DM was more than 10 years random blood sugar was 257.91 plus minus 12.81 and fasting blood sugar was 171.21 plus minus 8.14. Serum cholesterol was 226.88 plus minus 18.48 in the patients as one group, in illness of less than 10 years, it was 191.72 plus minus 5.72 and in illness of more than 10 years duration it was 213.11 plus minus 6.70. Serum triglyceride in illness of less than 10 years duration was 191.83 plus minus 8.05 and where it was more than 10 years, it was 210.04 plus minus 8.90. Serum HDL-C was 36.25 plus minus 0.45 in patients illness of less than 10 years and 35.57 plus minus 0.60 in more than 10 years. Serum LDL - C was 127.1 plus minus 3.99 in patients with less than 10 years of diabetes mellitus and 147.5 plus minus 5.20 in patients with more than 10 years of illness. Fifty-eight patients were hypertensive, 43% of the male patients were smokers. Conclusions: Diabetic dyslipidemia in an important cause of morbidity. Duration of diabetes is associated with higher incidence of dyslipidemia. Type II DM is associated with marked increase in the risk of CHD. Dyslipidemia is believed to be a major

  4. Dyslipidemias in type II mellitus patients in a teaching hospital of Lahore, Pakistan

    Energy Technology Data Exchange (ETDEWEB)

    Naheed, T [King Edward Medical College, Lahore (Pakistan). Dept. of Medicine; Khan, A; Masood, G; Bilal-Bin-Yunus,; Chaudhry, M A [Fatima Jinnah Medical College, Lahore (Pakistan). Dept. of Medicine

    2003-12-01

    Subject: One hundred consecutive type II diabetics between the age of 40-70 years. Those who had hyperlipidemia due to other causes e.g. nephrotic syndrome, hypothyroidism and type-I diabetes mellitus were excluded. Results: One hundred patients suffering from type II diabetes were included in the study. Out of these 64% were females and 36% were males. The age range was 41-70 years with mean of 56.1 plus minus 9.38. Out of these 100 patients, duration of diabetes mellitus of less than 10 years was noted in 43% of patients and more than 10 years in 57%. Random blood sugar was 229.34 plus minus 6.23 and fasting blood sugar was 153.5 plus minus 4.45 when it was seen in the total study subjects, random blood sugar 210.51 plus minus 7.68 and fasting blood sugar 143.83 plus minus 5.35 in sub group whose duration of illness was less than 10 years. In sub group whose DM was more than 10 years random blood sugar was 257.91 plus minus 12.81 and fasting blood sugar was 171.21 plus minus 8.14. Serum cholesterol was 226.88 plus minus 18.48 in the patients as one group, in illness of less than 10 years, it was 191.72 plus minus 5.72 and in illness of more than 10 years duration it was 213.11 plus minus 6.70. Serum triglyceride in illness of less than 10 years duration was 191.83 plus minus 8.05 and where it was more than 10 years, it was 210.04 plus minus 8.90. Serum HDL-C was 36.25 plus minus 0.45 in patients illness of less than 10 years and 35.57 plus minus 0.60 in more than 10 years. Serum LDL - C was 127.1 plus minus 3.99 in patients with less than 10 years of diabetes mellitus and 147.5 plus minus 5.20 in patients with more than 10 years of illness. Fifty-eight patients were hypertensive, 43% of the male patients were smokers. Conclusions: Diabetic dyslipidemia in an important cause of morbidity. Duration of diabetes is associated with higher incidence of dyslipidemia. Type II DM is associated with marked increase in the risk of CHD. Dyslipidemia is believed to be a major

  5. Prevalence of undiagnosed and inadequately treated type 2 diabetes mellitus, hyperension, and dyslipidemia in morbidly obese patients who present for bariatric surgery

    Science.gov (United States)

    Context: Pharmacotherapy is considered the primary treatment modality for metabolic diseases, such as diabetes mellitus (DM), hypertension (HTN), and dyslipidemia (DYS). Objective: We hypothesize that these metabolic diseases become exceedingly difficult to treat with pharmacotherapy in morbidly ob...

  6. Cholesteryl Ester Transfer Protein Intimately Involved in Dyslipidemia-Related Susceptibility to Cognitive Deficits in Type 2 Diabetic Patients.

    Science.gov (United States)

    Sun, Jie; Cai, Rongrong; Huang, Rong; Wang, Pin; Tian, Sai; Sun, Haixia; Xia, Wenqing; Wang, Shaohua

    2016-08-01

    Cholesteryl ester transfer protein (CETP) is involved in diabetic dyslipidemia. We aim to test the hypothesis that CETP might be of importance in mediating dyslipidemia-related susceptibility to cognitive deficits in diabetic patients. We recruited 190 type 2 diabetic patients and divided them into two groups according to the Montreal Cognitive Assessment (MoCA) score. The association between CETP and cognitive decline was analyzed with logistic regression and stratification. There were 110 diabetic patients with mild cognition impairment (MCI) and 80 healthy cognition subjects as controls. Dyslipidemia is more common among diabetic patients with MCI; they had a significant increase of serum CETP concentrations, which was negatively correlated with MoCA (r = -0.638; p dyslipidemia-related susceptibility to cognitive decline, especially memory function in type 2 diabetic patients.

  7. Coronary artery disease in a rural population of Bangladesh: is dyslipidemia or adiposity a significant risk?

    Directory of Open Access Journals (Sweden)

    Sajal Krishna Banerjee

    2017-07-01

    and dyslipidemia were proved not significant. Conclusions: The study concludes that the prevalence of CAD in a Bangladeshi rural population is comparable to other developed countries. The male sex, rich social class, hypertension and diabetes were proved to have excess risk of CAD. Neither obesity nor dyslipidemia were found significant for CAD. The younger people had similar risk as the aged ones, which necessitate primordial and primary prevention of CAD. Further study may be undertaken, which should include and consider physical activity and diet; and if possible, C-reactive protein, Vitamin D and homocysteine level. IMC J Med Sci 2017; 11(2: 61-69

  8. Efficacy of fix dose combination (atorvastatin and amlodipine) in treatment of uncontrolled hypertension and dyslipidemia

    International Nuclear Information System (INIS)

    Bashir, S.; Sherwani, M.U.K.; Batool, A.

    2012-01-01

    The fixed-dose combination containing the antihypertensive agent amlodipine and the statin, atorvastatin, is the first combination of its kind designed to treat two risk factors for cardiovascular disease (CVD), i.e., hypertension and dyslipidemia. in this study, blood pressure and lipid lowering effects of combination of amlodipine and atorvastatin were evaluated in uncontrolled hypertensive patients. Methods: Thirty patients both male and female in the age group 35-60 years attending the hypertensive clinic of PMRC FJMC suffering from uncontrolled hypertension were selected. baseline blood pressure was checked after half hour rest in sitting and standing position using mercury sphygmomanometer. Blood sample was collected from all patients after overnight fasting for assessment of serum cholesterol, triglycerides, LDL and HDL cholesterol levels. they were prescribed with fixed dose combination of 5 mg amlodipine and 10 mg atorvastatin. Patients were followed for their blood pressure measurement after every 4 weeks up to 12 weeks. At the end of 12 weeks their fasting blood sample was taken again for determination of serum cholesterol, triglyceride, IDL and HDL cholesterol levels. Results: Systolic blood pressure after 4, 8 and 12 weeks was significantly lower at all intervals from baseline. when systolic blood pressure after 8 and 12 weeks was compared with 4 weeks, the effect was again significant (p=0.024, p=0.002 respectively). There was no significant reduction seen in 8 versus 12 weeks (p=0.493). Diastolic blood pressure at 4, 8 and 12 weeks was significantly lower from baseline. Diastolic blood pressure after 4 and 8 weeks when compared with 8 and 12 weeks was not significantly low (p=0.99 and 0.91 respectively). Lipid profile of the patients was significantly reduced from baseline after twelve weeks of fixed dose combination of treatment (p<0.000). Conclusion: Combination therapy proved to be effective in controlling hypertension and dyslipidemia than single

  9. Efficacy of fix dose combination (atorvastatin and amlodipine) in treatment of uncontrolled hypertension and dyslipidemia

    Energy Technology Data Exchange (ETDEWEB)

    Bashir, S; Sherwani, M U.K.; Batool, A [Fatima Jinnah Medical College, Lahore (Pakistan)

    2012-07-15

    The fixed-dose combination containing the antihypertensive agent amlodipine and the statin, atorvastatin, is the first combination of its kind designed to treat two risk factors for cardiovascular disease (CVD), i.e., hypertension and dyslipidemia. in this study, blood pressure and lipid lowering effects of combination of amlodipine and atorvastatin were evaluated in uncontrolled hypertensive patients. Methods: Thirty patients both male and female in the age group 35-60 years attending the hypertensive clinic of PMRC FJMC suffering from uncontrolled hypertension were selected. baseline blood pressure was checked after half hour rest in sitting and standing position using mercury sphygmomanometer. Blood sample was collected from all patients after overnight fasting for assessment of serum cholesterol, triglycerides, LDL and HDL cholesterol levels. they were prescribed with fixed dose combination of 5 mg amlodipine and 10 mg atorvastatin. Patients were followed for their blood pressure measurement after every 4 weeks up to 12 weeks. At the end of 12 weeks their fasting blood sample was taken again for determination of serum cholesterol, triglyceride, IDL and HDL cholesterol levels. Results: Systolic blood pressure after 4, 8 and 12 weeks was significantly lower at all intervals from baseline. when systolic blood pressure after 8 and 12 weeks was compared with 4 weeks, the effect was again significant (p=0.024, p=0.002 respectively). There was no significant reduction seen in 8 versus 12 weeks (p=0.493). Diastolic blood pressure at 4, 8 and 12 weeks was significantly lower from baseline. Diastolic blood pressure after 4 and 8 weeks when compared with 8 and 12 weeks was not significantly low (p=0.99 and 0.91 respectively). Lipid profile of the patients was significantly reduced from baseline after twelve weeks of fixed dose combination of treatment (p<0.000). Conclusion: Combination therapy proved to be effective in controlling hypertension and dyslipidemia than single

  10. Dyslipidemia and cardiovascular disease risk profiles of patients attending an HIV treatment clinic in Harare, Zimbabwe

    Directory of Open Access Journals (Sweden)

    Zhou DT

    2015-05-01

    Full Text Available Danai Tavonga Zhou,1,2 Vitaris Kodogo,1 Kudzai Fortunate Vongai Chokuona,1 Exnevia Gomo,1 Olav Oektedalen,3 Babill Stray-Pedersen21Department of Medical Laboratory Sciences, College of Health Sciences, University of Zimbabwe, Avondale, Zimbabwe; 2Institute of Clinical Medicine, University in Oslo, Oslo University Hospital, Oslo, Norway; 3Department of Infectious Diseases, Oslo University Hospital, Oslo, NorwayAbstract: The chronic inflammation induced by human immunodeficiency virus (HIV contributes to increased risk of coronary heart disease (CHD in HIV-infected individuals. HIV-infected patients generally benefit from being treated with antiretroviral drugs, but some antiretroviral agents have side effects, such as dyslipidemia and hyperglycemia. There is general consensus that antiretroviral drugs induce a long-term risk of CHD, although the levels of that risk are somewhat controversial. The intention of this cross-sectional study was to describe the lipid profile and the long-term risk of CHD among HIV-positive outpatients at an HIV treatment clinic in Harare, Zimbabwe. Two hundred and fifteen patients were investigated (females n=165, mean age 39.8 years; males n=50; mean age 42.0 years. Thirty of the individuals were antiretroviral-naïve and 185 had been on antiretroviral therapy (ART for a mean 3.9±3.4 years. All participants had average lipid and glucose values within normal ranges, but there was a small difference between the ART and ART- for total cholesterol (TC and high-density lipoprotein (HDL.Those on a combination of D4T or ZDV/NVP/3TC and PI-based ART were on average oldest and had the highest TC levels. Framingham risk showed 1.4% prevalence of high CHD risk within the next ten years. After univariate analysis age, sex, TC/HDL ratio, HDL, economic earnings and systolic BP were associated with medium to high risk of CHD. After multivariate regression analysis and adjusting for age or sex only age, sex and economic earnings

  11. Correlation of serum magnesium with dyslipidemia in patients on maintenance hemodialysis

    Directory of Open Access Journals (Sweden)

    Muhammad Rafique Ansari

    2012-01-01

    Full Text Available This study was performed to determine the correlation between serum magnesium (Mg and dyslipidemia in patients on maintenance hemodialysis (MHD. This hospital-based cross-sectional observational study was conducted at the Department of Nephro-Urology, Liaquat University Hospital, Hyderabad, Pakistan, from April 2008 to June 2008. Fifty patients with end-stage kidney disease on MHD treatment (33 males and 17 females were studied. The mean duration on HD was 7.58 ± 2.05 years, with frequency being two to three sessions/week, and each session lasted for four hours. After obtaining informed written consent, the general information of each patient was recorded on a proforma. After overnight fasting, blood samples was drawn from the arterio-venous fistula for lipid profile, lipoprotein, serum Mg, serum creatinine, blood urea, serum calcium and serum phosphorus. Dyslipidemia was defined as presence of total cholesterol (TC, triglyceride (TG or low-density lipoprotein (LDL levels more then 95 th percentile for age and gender or high-density lipoprotein (HDL levels less then 35 mg/dL. Descriptive and inferential statistical analyses were performed using SPSS version 16.0. The mean age of the study patients was 45.68 ± 13.97 years. There was a significant positive correlation between serum Mg and serum lipoprotein-a (LP-a (r = 0.40, P < 0.007, serum HDL (r = 0.31, P < 0.01 and serum TG (r = 0.35, P < 0.005. There was no significant correlation between serum Mg and serum LDL-c and serum TC. The serum TG and LP-a levels were significantly increased while HDL-c was significantly lower in MHD patients. The serum TC, LDL-c and very low-density lipoprotein-c were not significantly elevated. We conclude that patients with chronic kidney disease undergoing MHD show positive correlation between serum Mg and serum HDL, LP-a and TG. The abnormalities of lipid metabolism, such as hyper-triglyceridemia, elevated LP-a and low HDL-c, could contribute to

  12. Association of General and Abdominal Obesity With Hypertension, Dyslipidemia and Prediabetes in the PREDAPS Study.

    Science.gov (United States)

    Sangrós, F Javier; Torrecilla, Jesús; Giráldez-García, Carolina; Carrillo, Lourdes; Mancera, José; Mur, Teresa; Franch, Josep; Díez, Javier; Goday, Albert; Serrano, Rosario; García-Soidán, F Javier; Cuatrecasas, Gabriel; Igual, Dimas; Moreno, Ana; Millaruelo, J Manuel; Carramiñana, Francisco; Ruiz, Manuel Antonio; Pérez, Francisco Carlos; Iriarte, Yon; Lorenzo, Ángela; González, María; Álvarez, Beatriz; Barutell, Lourdes; Mayayo, M Soledad; Del Castillo, Mercedes; Navarro, Emma; Malo, Fernando; Cambra, Ainhoa; López, Riánsares; Gutiérrez, M Ángel; Gutiérrez, Luisa; Boente, Carmen; Mediavilla, J Javier; Prieto, Luis; Mendo, Luis; Mansilla, M José; Ortega, Francisco Javier; Borras, Antonia; Sánchez, L Gabriel; Obaya, J Carlos; Alonso, Margarita; García, Francisco; Gutiérrez, Ángela Trinidad; Hernández, Ana M; Suárez, Dulce; Álvarez, J Carlos; Sáenz, Isabel; Martínez, F Javier; Casorrán, Ana; Ripoll, Jazmín; Salanova, Alejandro; Marín, M Teresa; Gutiérrez, Félix; Innerárity, Jaime; Álvarez, M Del Mar; Artola, Sara; Bedoya, M Jesús; Poveda, Santiago; Álvarez, Fernando; Brito, M Jesús; Iglesias, Rosario; Paniagua, Francisca; Nogales, Pedro; Gómez, Ángel; Rubio, José Félix; Durán, M Carmen; Sagredo, Julio; Gijón, M Teresa; Rollán, M Ángeles; Pérez, Pedro P; Gamarra, Javier; Carbonell, Francisco; García-Giralda, Luis; Antón, J Joaquín; de la Flor, Manuel; Martínez, Rosario; Pardo, José Luis; Ruiz, Antonio; Plana, Raquel; Macía, Ramón; Villaró, Mercè; Babace, Carmen; Torres, José Luis; Blanco, Concepción; Jurado, Ángeles; Martín, José Luis; Navarro, Jorge; Sanz, Gloria; Colas, Rafael; Cordero, Blanca; de Castro, Cristina; Ibáñez, Mercedes; Monzón, Alicia; Porta, Nuria; Gómez, María Del Carmen; Llanes, Rafael; Rodríguez, J José; Granero, Esteban; Sánchez, Manuel; Martínez, Juan; Ezkurra, Patxi; Ávila, Luis; de la Sen, Carlos; Rodríguez, Antonio; Buil, Pilar; Gabriel, Paula; Roura, Pilar; Tarragó, Eduard; Mundet, Xavier; Bosch, Remei; González, J Carles; Bobé, M Isabel; Mata, Manel; Ruiz, Irene; López, Flora; Birules, Marti; Armengol, Oriol; de Miguel, Rosa Mar; Romera, Laura; Benito, Belén; Piulats, Neus; Bilbeny, Beatriz; Cabré, J José; Cos, Xavier; Pujol, Ramón; Seguí, Mateu; Losada, Carmen; de Santiago, A María; Muñoz, Pedro; Regidor, Enrique

    2018-03-01

    Some anthropometric measurements show a greater capacity than others to identify the presence of cardiovascular risk factors. This study estimated the magnitude of the association of different anthropometric indicators of obesity with hypertension, dyslipidemia, and prediabetes (altered fasting plasma glucose and/or glycosylated hemoglobin). Cross-sectional analysis of information collected from 2022 participants in the PREDAPS study (baseline phase). General obesity was defined as body mass index ≥ 30kg/m 2 and abdominal obesity was defined with 2 criteria: a) waist circumference (WC) ≥ 102cm in men/WC ≥ 88cm in women, and b) waist-height ratio (WHtR) ≥ 0.55. The magnitude of the association was estimated by logistic regression. Hypertension showed the strongest association with general obesity in women (OR, 3.01; 95%CI, 2.24-4.04) and with abdominal obesity based on the WHtR criterion in men (OR, 3.65; 95%CI, 2.66-5.01). Hypertriglyceridemia and low levels of high-density lipoprotein cholesterol showed the strongest association with abdominal obesity based on the WHtR criterion in women (OR, 2.49; 95%CI, 1.68-3.67 and OR, 2.70; 95%CI, 1.89-3.86) and with general obesity in men (OR, 2.06; 95%CI, 1.56-2.73 and OR, 1.68; 95%CI, 1.21-2.33). Prediabetes showed the strongest association with abdominal obesity based on the WHtR criterion in women (OR, 2.48; 95%CI, 1.85-3.33) and with abdominal obesity based on the WC criterion in men (OR, 2.33; 95%CI, 1.75-3.08). Abdominal obesity indicators showed the strongest association with the presence of prediabetes. The association of anthropometric indicators with hypertension and dyslipidemia showed heterogeneous results. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  13. Contemporary management and attainment of cholesterol targets for patients with dyslipidemia in China.

    Directory of Open Access Journals (Sweden)

    Fei Gao

    Full Text Available It is well-established that lipid disorder is an important cardiovascular risk factor, and failure to reach optimal lipid levels significantly contributes to the residual cardiovascular risks. However, limited information is available on the management and the attainment of recommended cholesterol targets in real-world practice in China.A nationally representative sample of 12,040 patients with dyslipidemia from 19 provinces and 84 hospitals across China were consecutively enrolled in this survey. Risk stratification and individual cholesterol target was established for all participants. This survey identified a high-risk cohort, with over 50% of patients had hypertension, 37.5% had coronary artery disease, and more than 30% had peripheral artery disease. Thirty-nine percent of all participants received lipid lowering medications. And the majority of them (94.5% had statins (42.5% with atorvastatin, 29.0% with simvastatin, and 15.2% with rosuvastatin. However, the overall attainment for low-density lipoprotein cholesterol (LDL-C target is low (25.8%, especially, in female (22.2%, and in patients with increased body mass index (BMI (38.3% for BMI<18.5, 28.1% for BMI 18.5-24.9, 26.0% for BMI 25.0-29.9, and 17.4% for BMI ≥ 30, P<0.0001. Subgroup analysis also showed the attainment is significantly lower in patients who were stratified into high (19.9% and very high (21.1% risk category. In logistic regression analysis, eight factors (BMI, gender, coronary artery disease, systolic and diastolic blood pressure, hypertension, family history of premature coronary artery disease and current smoking were identified as independent predictors of LDL-C attainment.Despite the proven benefits of lipid-lowering therapies, current management of dyslipidemia continues to be unsatisfied. A considerable proportion of patients failed to achieve guideline-recommended targets in China, and this apparent treatment gap was more pronounced among patients with

  14. Contemporary Management and Attainment of Cholesterol Targets for Patients with Dyslipidemia in China

    Science.gov (United States)

    Gao, Fei; Zhou, Yu Jie; Hu, Da Yi; Zhao, Ying Xin; Liu, Yu Yang; Wang, Zhi Jian; Yang, Shi Wei; Liu, Xiao Li

    2013-01-01

    Aims It is well-established that lipid disorder is an important cardiovascular risk factor, and failure to reach optimal lipid levels significantly contributes to the residual cardiovascular risks. However, limited information is available on the management and the attainment of recommended cholesterol targets in real-world practice in China. Methods and Results A nationally representative sample of 12,040 patients with dyslipidemia from 19 provinces and 84 hospitals across China were consecutively enrolled in this survey. Risk stratification and individual cholesterol target was established for all participants. This survey identified a high-risk cohort, with over 50% of patients had hypertension, 37.5% had coronary artery disease, and more than 30% had peripheral artery disease. Thirty-nine percent of all participants received lipid lowering medications. And the majority of them (94.5%) had statins (42.5% with atorvastatin, 29.0% with simvastatin, and 15.2% with rosuvastatin). However, the overall attainment for low-density lipoprotein cholesterol (LDL-C) target is low (25.8%), especially, in female (22.2%), and in patients with increased body mass index (BMI) (38.3% for BMI<18.5, 28.1% for BMI 18.5–24.9, 26.0% for BMI 25.0–29.9, and 17.4% for BMI≥30, P<0.0001). Subgroup analysis also showed the attainment is significantly lower in patients who were stratified into high (19.9%) and very high (21.1%) risk category. In logistic regression analysis, eight factors (BMI, gender, coronary artery disease, systolic and diastolic blood pressure, hypertension, family history of premature coronary artery disease and current smoking) were identified as independent predictors of LDL-C attainment. Conclusions Despite the proven benefits of lipid-lowering therapies, current management of dyslipidemia continues to be unsatisfied. A considerable proportion of patients failed to achieve guideline-recommended targets in China, and this apparent treatment gap was more

  15. Dyslipidemia and reference values for fasting plasma lipid concentrations in Danish/North-European White children and adolescents

    DEFF Research Database (Denmark)

    Nielsen, Tenna Ruest Haarmark; Lausten-Thomsen, Ulrik; Esmann Fonvig, Cilius

    2017-01-01

    Background: Dyslipidemia is reported in 27-43% of children and adolescents with overweight/obesity and tracks into adulthood, increasing the risk of cardiovascular morbidity. Cut-off values for fasting plasma lipid concentrations are typically set at fixed levels throughout childhood. The objective...... of this cross-sectional study was to generate fasting plasma lipid references for a Danish/North-European White population-based cohort of children and adolescents, and investigate the prevalence of dyslipidemia in this cohort as well as in a cohort with overweight/obesity. Methods: A population-based cohort...... of 2141 (1275 girls) children and adolescents aged 6-19 (median 11.5) years was recruited from 11 municipalities in Denmark. Additionally, a cohort of children and adolescents of 1421 (774 girls) with overweight/obesity aged 6-19years (median 11.8) was recruited for the study. Height, weight, and fasting...

  16. Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation.

    Directory of Open Access Journals (Sweden)

    Anupam Paliwal

    2013-08-01

    Full Text Available Allele-specific DNA methylation (ASM is well studied in imprinted domains, but this type of epigenetic asymmetry is actually found more commonly at non-imprinted loci, where the ASM is dictated not by parent-of-origin but instead by the local haplotype. We identified loci with strong ASM in human tissues from methylation-sensitive SNP array data. Two index regions (bisulfite PCR amplicons, one between the C3orf27 and RPN1 genes in chromosome band 3q21 and the other near the VTRNA2-1 vault RNA in band 5q31, proved to be new examples of imprinted DMRs (maternal alleles methylated while a third, between STEAP3 and C2orf76 in chromosome band 2q14, showed non-imprinted haplotype-dependent ASM. Using long-read bisulfite sequencing (bis-seq in 8 human tissues we found that in all 3 domains the ASM is restricted to single differentially methylated regions (DMRs, each less than 2kb. The ASM in the C3orf27-RPN1 intergenic region was placenta-specific and associated with allele-specific expression of a long non-coding RNA. Strikingly, the discrete DMRs in all 3 regions overlap with binding sites for the insulator protein CTCF, which we found selectively bound to the unmethylated allele of the STEAP3-C2orf76 DMR. Methylation mapping in two additional genes with non-imprinted haplotype-dependent ASM, ELK3 and CYP2A7, showed that the CYP2A7 DMR also overlaps a CTCF site. Thus, two features of imprinted domains, highly localized DMRs and allele-specific insulator occupancy by CTCF, can also be found in chromosomal domains with non-imprinted ASM. Arguing for biological importance, our analysis of published whole genome bis-seq data from hES cells revealed multiple genome-wide association study (GWAS peaks near CTCF binding sites with ASM.

  17. Novel HLA Class I Alleles Associated with Indian Leprosy Patients

    Directory of Open Access Journals (Sweden)

    U. Shankarkumar

    2003-01-01

    A*0101, Cw*04011, and Cw*0602 leprosy patients was observed when compared to the controls. Further haplotype A*1102-B*4006-Cw*1502 was significantly increased among the lepromatous leprosy patients when compared to the controls. It seems that HLA class I alleles play vital roles in disease association/pathogenesis with leprosy among Indians.

  18. Molecular monitoring of resistant dhfr and dhps allelic haplotypes in ...

    African Journals Online (AJOL)

    Objective: The present study assesses the frequency of resistant dhfr and dhps alleles in Morogoro-Mvomero district in south eastern Tanzania and contrast their rate of change during 17 years of SP second line use against five years of SP first line use. Methodology: Cross sectional surveys of asymptomatic infections were ...

  19. Multifragment alleles in DNA fingerprints of the parrot, Amazona ventralis

    Science.gov (United States)

    Brock, M.K.; White, B.N.

    1991-01-01

    Human DNA probes that identify variable numbers of tandem repeat loci are being used to generate DNA fingerprints in many animal and plant species. In most species the majority of the sc rable autoradiographic bands of the DNA fingerprint represent alleles from numerous unlinked loci. This study was initiated to use DNA fingerprints to determine the amount of band-sharing among captive Hispaniolan parrots (Amazona ventralis) with known genetic relationships. This would form the data base to examine DNA fingerprints of the closely related and endangered Puerto Rican parrot (A. vittata) and to estimate the degree of inbreeding in the relic population. We found by segregation analysis of the bands scored in the DNA fingerprints of the Hispaniolan parrots that there may be as few as two to five loci identified by the human 33.15 probe. Furthermore, at one locus we identified seven alleles, one of which is represented by as many as 19 cosegregating bands. It is unknown how common multiband alleles might be in natural populations, and their existence will cause problems in the assessment of relatedness by band-sharing analysis. We believe, therefore, that a pedigree analysis should be included in all DNA fingerprinting studies, where possible, in order to estimate the number of loci identified by a minisatellite DNA probe and to examine the nature of their alleles.

  20. Allele frequency distribution for 21 autosomal STR loci in Bhutan.

    Science.gov (United States)

    Kraaijenbrink, Thirsa; van Driem, George L; Tshering of Gaselô, Karma; de Knijff, Peter

    2007-07-20

    We studied the allele frequency distribution of 21 autosomal STR loci contained in the AmpFlSTR Identifiler (Applied Biosystems), the Powerplex 16 (Promega) and the FFFL (Promega) multiplex PCR kits among 936 individuals from the Royal Kingdom of Bhutan. As such these are the first published autosomal DNA results from this country.

  1. Allelic prevalence of intron 3 insertion/deletion genetic ...

    African Journals Online (AJOL)

    Leila Fallahzadeh-Abarghooei

    2015-03-18

    Mar 18, 2015 ... Tabriz (East Azerbaijan province; belong to Azaris), and Yasuj (Kohgiluyeh va Boyer-Ahmad pro- vince; belong to Lurs), respectively. Genotypic analysis of the Ins/Del XRCC4 polymorphism was detected by the PCR method. Results: The prevalence of the Del allele in Shiraz, Abarku, Tabriz, and Yasuj was ...

  2. Allele frequency analysis of Chinese chestnut ( Castanea mollissima ...

    African Journals Online (AJOL)

    The aim of this study was to establish a method for allele frequency detection in bulk samples. The abundance of polymerase chain reaction (PCR) products in bulk leaf samples was detected using fluorescent labeled Simple sequence repeat (SSR) primers and an Applied biosystems (AB) automatic DNA analyzer.

  3. Association of LEI0258 microsatellite alleles with antibody response ...

    African Journals Online (AJOL)

    SERVER

    2008-03-18

    Mar 18, 2008 ... (MHC) B region on chicken Micro-chromosome 16 has been demonstrated by many workers to be ... promising DNA markers in characterizing MHC B genes. Identifying marker alleles (bands) ..... SAS/STAT Users' Guide,. Release 6.12 Edition, SAS Institute Inc, Cary, North Carolina. USA. Taylor RL (2004).

  4. Distribution of HIV-1 resistance-conferring polymorphic alleles SDF ...

    Indian Academy of Sciences (India)

    Polymorphic allelic variants of chemokine receptors CCR2 and CCR5, as well as of stromal-derived factor-1 SDF-1, the ligand for the chemokine receptor CXCR4, are known to have protective effects against HIV-1 infection and to be involved with delay in disease progression. We have studied the DNA polymorphisms at ...

  5. HLA-A alleles differentially associate with severity to Plasmodium ...

    African Journals Online (AJOL)

    Human Leukocyte Antigen (HLA), particularly HLA-B and class II alleles have been differentially associated with disease outcomes in different populations following infection with the malaria Plasmodium falciparum. However, the effect of HLA-A on malaria infection and/or disease is not fully understood. Recently, HLA-A ...

  6. Clonal Ordering of 17p and 5q Allelic Losses in Barrett Dysplasia and Adenocarcinoma

    Science.gov (United States)

    Blount, Patricia L.; Meltzer, Stephen J.; Yin, Jing; Huang, Ying; Krasna, Mark J.; Reid, Brian J.

    1993-04-01

    Both 17p and 5q allelic losses appear to be involved in the pathogenesis or progression of many human solid tumors. In colon carcinogenesis, there is strong evidence that the targets of the 17p and 5q allelic losses are TP53, the gene encoding p53, and APC, respectively. It is widely accepted that 5q allelic losses precede 17p allelic losses in the progression to colonic carcinoma. The data, however, supporting this proposed order are largely based on the prevalence of 17p and 5q allelic losses in adenomas and unrelated adenocarcinomas from different patients. We investigated the order in which 17p and 5q allelic losses developed during neoplastic progression in Barrett esophagus by evaluating multiple aneuploid cell populations from the same patient. Using DNA content flow cytometric cell sorting and polymerase chain reaction, 38 aneuploid cell populations from 14 patients with Barrett esophagus who had high grade dysplasia, cancer or both were evaluated for 17p and 5q allelic losses. 17p allelic losses preceded 5q allelic losses in 7 patients, both 17p and 5q allelic losses were present in all aneuploid populations of 4 patients, and only 17p (without 5q) allelic losses were present in the aneuploid populations of 3 patients. In no patient did we find that a 5q allelic loss preceded a 17p allelic loss. Our data suggest that 17p allelic losses typically occur before 5q allelic losses during neoplastic progression in Barrett esophagus.

  7. Influence of dyslipidemia in control of arterial hypertension among type-2 diabetics in the western region of the Republic of Macedonia

    OpenAIRE

    Jani, Ylber; Kamberi, Amet; Ferati, Fatmir; Rexhepi, Atila; Pocesta, Bekim; Orovcanec, Nikola; Lala, Dali; Polisi, Gafur; Iseni, Mair; Mirto, Arben; Zeqiri, Agim

    2014-01-01

    Objective: To determine the influence of dyslipidemia in control of blood pressure in patients with type 2 Diabetes. To test the hypothesis that, blood pressure and lipid levels are not sufficiently controlled in patients with type 2 Diabetes, in the western region of the Republic of Macedonia. Background: Abnormalities of lipid and lipoprotein levels in the serum (dyslipidemia) are recognized as major modifiable cardiovascular disease risk factors and have been identified as independent risk...

  8. Gender and urban-rural difference in anthropometric indices predicting dyslipidemia in Chinese primary school children: a cross-sectional study.

    Science.gov (United States)

    Zheng, Wei; Zhao, Ai; Xue, Yong; Zheng, Yingdong; Chen, Yun; Mu, Zhishen; Wang, Peiyu; Zhang, Yumei

    2016-04-30

    Childhood dyslipidemia is a critical factor of lifelong health. Therefore, screening and controlling dyslipidemia from childhood is a practical healthy strategy. However, few studies have examined the performance of anthropometric predictors of dyslipidemia in Chinese children, let alone the potential gender and urban-rural disparity. Thus, we evaluated anthropometric indices predicting dyslipidemia by genders and living areas in Chinese children. Data were from a health and nutrition survey conducted in seven urban areas and two rural areas in China between 2011 and 2012. The serum lipid levels of the participants were compared between genders and living areas. The body mass index z-score (BMI z-score), waist-hip ratio (WHR), waist-height ratio (WHtR), and mid-upper arm height ratio (MaHtR) were used as predictors. The receiver operating characteristic (ROC) analysis was performed to investigate the ability of anthropometric indices predicting dyslipidemia. A total of 773 participants (average age = 9.3 ± 1.7 y) were included. The prevalence of dyslipidemia was 10.9%. Anthropometric indices were all significantly related to blood lipid profiles in boys after adjustment for age. The areas under the ROC curves (ACUs) were significantly larger than 0.5 in boys (ranged between 0.66-0.73), and were larger in rural boys (ranged between 0.68 and 0.94). MaHtR and WHR were associated with the highest specificity (93.8%) and highest sensitivity (100%), respectively. Using anthropometric indices, screening for dyslipidemia may be more appropriate in boys than in girls in China, especially in rural boys. The BMI z-score, WHR, WHtR, and MaHtR were all significantly associated with dyslipidemia in boys; using WHR and MaHtR as indicators achieved the highest sensitivity and specificity, respectively.

  9. Changes in Atherogenic Dyslipidemia Induced by Carbohydrate Restriction in Men Are Dependent on Dietary Protein Source1234

    OpenAIRE

    Mangravite, Lara M.; Chiu, Sally; Wojnoonski, Kathleen; Rawlings, Robin S.; Bergeron, Nathalie; Krauss, Ronald M.

    2011-01-01

    Previous studies have shown that multiple features of atherogenic dyslipidemia are improved by replacement of dietary carbohydrate with mixed sources of protein and that these lipid and lipoprotein changes are independent of dietary saturated fat content. Because epidemiological evidence suggests that red meat intake may adversely affect cardiovascular disease risk, we tested the effects of replacing dietary carbohydrate with beef protein in the context of high- vs. low-saturated fat intake i...

  10. The inhibitory effects of polysaccharide peptides (PsP of Ganoderma lucidum against atherosclerosis in rats with dyslipidemia

    Directory of Open Access Journals (Sweden)

    Titin Andri Wihastuti

    2017-04-01

    Full Text Available BackgroundAtherosclerosis occurs as a result of low-density lipoprotein (LDL deposits oxidation. Endothelial dysfunction is an early process of atherosclerosis. Restoring endothelial lining back to normal by endothelial progenitor cells (EPCs is critical for slowing or reversing vascular disease progression. Oxidative stress from hydrogen peroxide (H2O2 is increased in dyslipidemia so that antioxidant agent is required to prevent destruction of blood vessels.ObjectivesThis study aims to report Ganoderma lucidum polysaccharide peptide (PsP effects in atherogenic process by measuring H2O2 level, IL-10 level, and EPC number in blood serum, and also intima-media thickness of aorta in dyslipidemia Wistar rat model by giving them a hypercholesterol diet (HCD.Materials and methodsThe study was an experimental in vivo post-test with control group design. Thirty-five Wistar rats (Rattus norwegicus were divided into five groups (normal diet group, HCD group, and hypercholesterol groups that received 50 mg/kg, 150 mg/kg, and 300 mg/kg bodyweight PsP.ResultsEach treatment group showed significant results for the administration of PsP using the one-way analysis of variance test (p<0.050 for the reduction of H2O2 (p = 0.003, levels of IL-10 (p = 0.027, number of EPC in the blood serum (p = 0.011, and the intima-media thickness of the aorta (p = 0.000. PsP from G. lucidum is a potent antioxidant and may prevent atherogenesis process in patients with dyslipidemia.ConclusionsThe optimum doses of PsP in this study is 300 mg/kg bodyweight. Further studies are required to determine the antioxidant effects of PsP G. lucidum and its benefits in the management of dyslipidemia.

  11. Different Criteria for the Definition of Insulin Resistance and Its Relation with Dyslipidemia in Overweight and Obese Children and Adolescents

    Science.gov (United States)

    de Mello, Elza Daniel

    2018-01-01

    Purpose to compare cut off points corrected for age and gender (COOP) with fixed cut off points (FCOP) for fasting plasma insulin and Homeostatic model assessment-insulin resistance (HOMA-IR) for the diagnosis of IR in obese children and adolescents and their correlation with dyslipidemia. Methods A multicenter, cross-sectional study including 383 subjects aged 7 to 18 years, evaluating fasting blood glucose, plasma insulin, and lipid profile. Subjects with high insulin levels and/or HOMA-IR were considered as having IR, based on two defining criteria: FCOP or CCOP. The frequency of metabolic abnormalities, the presence of IR, and the presence of dyslipidemia in relation to FCOP or CCOP were analyzed using Fisher and Mann-Whitney exact tests. Results Using HOMA-IR, IR was diagnosed in 155 (40.5%) and 215 (56.1%) patients and, using fasting insulin, 150 (39.2%) and 221 (57.7%), respectively applying FCOP and CCOP. The use of CCOP resulted in lower insulin and HOMA-IR values than FCOP. Dyslipidemia was not related to FCOP or CCOP. Blood glucose remained within normal limits in all patients with IR. There was no difference in the frequency of IR identified by plasma insulin or HOMA-IR, both for FCOP and CCOP. Conclusion The CCOP of plasma insulin or of HOMA-IR detected more cases of IR as compared to the FCOP, but were not associated with the frequency of dyslipidemia. As blood glucose has almost no fluctuation in this age group, even in the presence of IR, fasting plasma insulin detected the same cases of IR that would be detected by HOMA-IR. PMID:29383306

  12. Etiology and management of dyslipidemia in children with chronic kidney disease and end-stage renal disease.

    Science.gov (United States)

    Khurana, Mona; Silverstein, Douglas M

    2015-12-01

    Lipids are essential components of cell membranes, contributing to cell fuel, myelin formation, subcellular organelle function, and steroid hormone synthesis. Children with chronic kidney disease (CKD) and end-stage renal disease (ESRD) exhibit various co-morbidities, including dyslipidemia. The prevalence of dyslipidemias in children with CKD and ESRD is high, being present in 39-65% of patients. Elevated lipid levels in children without renal disease are a risk factor for cardiovascular disease (CVD), while the risk for CVD in pediatric CKD/ESRD is unclear. The pathogenesis of dyslipidemia in CKD features various factors, including increased levels of triglycerides, triglyceride-rich lipoproteins, apolipoprotein C3 (ApoC-III), decreased levels of cholesterylester transfer protein and high-density lipoproteins, and aberrations in serum very low-density and intermediate-density lipoproteins. If initial risk assessment indicates that a child with advanced CKD has 2 or more co-morbidities for CVD, first-line treatment should consist of non-pharmacologic management such as therapeutic lifestyle changes and dietary counseling. Pharmacologic treatment of dyslipidemia may reduce the incidence of CVD in children with CKD/ESRD, but randomized trials are lacking. Statins are the only class of lipid-lowering drugs currently approved by the U.S. Food and Drug Administration (FDA) for use in the pediatric population. FDA-approved pediatric labeling for these drugs is based on results from placebo-controlled trial results, showing 30-50% reductions in baseline low-density lipoprotein cholesterol. Although statins are generally well tolerated in adults, a spectrum of adverse events has been reported with their use in both the clinical trial and post-marketing settings.

  13. Asian patients with dyslipidemia in an urban population: Effect of ethnicity on their LDL-cholesterol treatment goals.

    Science.gov (United States)

    Tan, Ngiap Chuan; Koh, Kim Hwee; Goh, Chin Chin; Koh, Yi Ling Eileen; Goh, Soo Chye Paul

    2016-01-01

    Dyslipidemia is the primary risk factor for arthrosclerosis. It is the most common chronic disease among the multiethnic Asian population in Singapore. Local national health survey has shown ethnic variability in achieving control of dyslipidemia. This study aimed to determine the proportion of patients in primary care, who achieved their low-density lipoprotein (LDL)-cholesterol treatment goals, stratified by the local major ethnic groups. It also evaluated the factors that affected their dyslipidemia control, including diet, exercise and medication usage. Research assistants administered questionnaires on adult patients with physician-diagnosed dyslipidemia to determine their views on diet, exercise, and medications in this cross-sectional study in 2 local primary care clinics. Their lipid profiles were retrieved from their laboratory reports in their electronic health records. Chi-square and Fisher exact tests were used for the categorical demographics and questionnaire variables, (P < .05: statistically significant). Logistic regression was performed using these significant variables to determine the adjusted odds of the ethnic groups. A total of 1093 eligible patients completed the questionnaires. The proportion of Chinese, Malay, and Indian patients who achieved LDL-cholesterol goals was 78.3%, 67.9%, and 68.5%, respectively. Among those who self-reported taking their favorite cholesterol-rich food occasionally when their cholesterol became controlled, 35.8% Indians failed to achieve treatment goals, compared to 20.1% Chinese and 30.9% Malay patients. Regular medication adherence was associated with 81.8% Chinese, 69.0% Malay, and 69.7% Indian reaching treatment goals. More Chinese met LDL-cholesterol treatment goals compared to Malays and Indians. Lipid-lowering medications enabled but smoking hindered their achievement of these treatment goals. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  14. Association Between Physical Therapy and Risk of Coronary Artery Disease and Dyslipidemia Among Osteoarthritis Patients: A Nationwide Database Study.

    Science.gov (United States)

    Yeh, Huan-Jui; Chou, Yiing-Jenq; Yang, Nan-Ping; Cheng, Chi-Chia; Huang, Nicole

    2016-01-01

    To provide empirical evidence on the effect of early physical therapy (PT) within the first year of osteoarthritis (OA) diagnosis on reduction in OA-related comorbidities in patients with OA. Retrospective cohort study. The study was conducted using a nationally representative sample of 1 million National Health Insurance enrollees. Newly diagnosed patients with OA (N=13,545). One-to-one propensity score matching was used to match patients who received PT within the first year of OA diagnosis (PT group; n=3403) with an equal number of patients with OA who did not receive PT (non-PT group). Not applicable. The 4-year cumulative risk of comorbidities including coronary artery disease (CAD), diabetes mellitus, dyslipidemia, osteoporosis, gastrointestinal tract ulcer, and renal failure was estimated. A Cox proportional hazards regression analysis was performed to identify the dose-response relation between the PT dosage and the risk of OA-related comorbidities. A total of 3403 patients (25.1%) received PT within the first year of OA diagnosis. The PT group had a significantly lower 4-year cumulative risk of dyslipidemia (P=.05) and a potentially lower 4-year cumulative risk of CAD (P=.09). After adjusting for other potential confounders, the Cox proportional hazards regression analysis showed that patients with OA who received a high PT dosage had a low risk of CAD and dyslipidemia. Patients with OA who received PT had a lower risk of OA-related comorbidities such as dyslipidemia or CAD. Copyright © 2016 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  15. QuASAR: quantitative allele-specific analysis of reads.

    Science.gov (United States)

    Harvey, Chris T; Moyerbrailean, Gregory A; Davis, Gordon O; Wen, Xiaoquan; Luca, Francesca; Pique-Regi, Roger

    2015-04-15

    Expression quantitative trait loci (eQTL) studies have discovered thousands of genetic variants that regulate gene expression, enabling a better understanding of the functional role of non-coding sequences. However, eQTL studies are costly, requiring large sample sizes and genome-wide genotyping of each sample. In contrast, analysis of allele-specific expression (ASE) is becoming a popular approach to detect the effect of genetic variation on gene expression, even within a single individual. This is typically achieved by counting the number of RNA-seq reads matching each allele at heterozygous sites and testing the null hypothesis of a 1:1 allelic ratio. In principle, when genotype information is not readily available, it could be inferred from the RNA-seq reads directly. However, there are currently no existing methods that jointly infer genotypes and conduct ASE inference, while considering uncertainty in the genotype calls. We present QuASAR, quantitative allele-specific analysis of reads, a novel statistical learning method for jointly detecting heterozygous genotypes and inferring ASE. The proposed ASE inference step takes into consideration the uncertainty in the genotype calls, while including parameters that model base-call errors in sequencing and allelic over-dispersion. We validated our method with experimental data for which high-quality genotypes are available. Results for an additional dataset with multiple replicates at different sequencing depths demonstrate that QuASAR is a powerful tool for ASE analysis when genotypes are not available. http://github.com/piquelab/QuASAR. fluca@wayne.edu or rpique@wayne.edu Supplementary Material is available at Bioinformatics online. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  16. Segregation of male-sterility alleles across a species boundary.

    Science.gov (United States)

    Weller, S G; Sakai, A K; Culley, T M; Duong, L; Danielson, R E

    2014-02-01

    Hybrid zones may serve as bridges permitting gene flow between species, including alleles influencing the evolution of breeding systems. Using greenhouse crosses, we assessed the likelihood that a hybrid zone could serve as a conduit for transfer of nuclear male-sterility alleles between a gynodioecious species and a hermaphroditic species with very rare females in some populations. Segregation patterns in progeny of crosses between rare females of hermaphroditic Schiedea menziesii and hermaphroditic plants of gynodioecious Schiedea salicaria heterozygous at the male-sterility locus, and between female S. salicaria and hermaphroditic plants from the hybrid zone, were used to determine whether male-sterility was controlled at the same locus in the parental species and the hybrid zone. Segregations of females and hermaphrodites in approximately equal ratios from many of the crosses indicate that the same nuclear male-sterility allele occurs in the parent species and the hybrid zone. These rare male-sterility alleles in S. menziesii may result from gene flow from S. salicaria through the hybrid zone, presumably facilitated by wind pollination in S. salicaria. Alternatively, rare male-sterility alleles might result from a reversal from gynodioecy to hermaphroditism in S. menziesii, or possibly de novo evolution of male sterility. Phylogenetic analysis indicates that some species of Schiedea have probably evolved separate sexes independently, but not in the lineage containing S. salicaria and S. menziesii. High levels of selfing and expression of strong inbreeding depression in S. menziesii, which together should favour females in populations, argue against a reversal from gynodioecy to hermaphroditism in S. menziesii. © 2014 The Authors. Journal of Evolutionary Biology © 2014 European Society For Evolutionary Biology.

  17. Dyslipidemia and reference values for fasting plasma lipid concentrations in Danish/North-European White children and adolescents

    DEFF Research Database (Denmark)

    Nielsen, Tenna Ruest Haarmark; Lausten-Thomsen, Ulrik; Fonvig, Cilius Esmann

    2017-01-01

    BACKGROUND: Dyslipidemia is reported in 27 - 43% of children and adolescents with overweight/obesity and tracks into adulthood, increasing the risk of cardiovascular morbidity. Cut-off values for fasting plasma lipid concentrations are typically set at fixed levels throughout childhood. The objec......BACKGROUND: Dyslipidemia is reported in 27 - 43% of children and adolescents with overweight/obesity and tracks into adulthood, increasing the risk of cardiovascular morbidity. Cut-off values for fasting plasma lipid concentrations are typically set at fixed levels throughout childhood....... The objective of this cross-sectional study was to generate fasting plasma lipid references for a Danish/North-European White population-based cohort of children and adolescents, and investigate the prevalence of dyslipidemia in this cohort as well as in a cohort with overweight/obesity. METHODS: A population......, and fasting plasma lipid concentrations were measured on all participants. Smoothed reference curves and percentiles were generated using the Generalized Additive Models for Location Scale and Shape package in the statistical software R. RESULTS: In the population-based cohort, plasma concentrations of total...

  18. Allelic heterogeneity and trade-off shape natural variation for response to soil micronutrient.

    Directory of Open Access Journals (Sweden)

    Seifollah Poormohammad Kiani

    Full Text Available As sessile organisms, plants have to cope with diverse environmental constraints that may vary through time and space, eventually leading to changes in the phenotype of populations through fixation of adaptive genetic variation. To fully comprehend the mechanisms of evolution and make sense of the extensive genotypic diversity currently revealed by new sequencing technologies, we are challenged with identifying the molecular basis of such adaptive variation. Here, we have identified a new variant of a molybdenum (Mo transporter, MOT1, which is causal for fitness changes under artificial conditions of both Mo-deficiency and Mo-toxicity and in which allelic variation among West-Asian populations is strictly correlated with the concentration of available Mo in native soils. In addition, this association is accompanied at different scales with patterns of polymorphisms that are not consistent with neutral evolution and show signs of diversifying selection. Resolving such a case of allelic heterogeneity helps explain species-wide phenotypic variation for Mo homeostasis and potentially reveals trade-off effects, a finding still rarely linked to fitness.

  19. Nutraceuticals and Bioactive Components from Fish for Dyslipidemia and Cardiovascular Risk Reduction

    Directory of Open Access Journals (Sweden)

    Giulia Chiesa

    2016-06-01

    Full Text Available Cardiovascular disease remains the most common health problem in developed countries, and residual risk after implementing all current therapies is still high. Permanent changes in lifestyle may be hard to achieve and people may not always be motivated enough to make the recommended modifications. Emerging research has explored the application of natural food-based strategies in disease management. In recent years, much focus has been placed on the beneficial effects of fish consumption. Many of the positive effects of fish consumption on dyslipidemia and heart diseases have been attributed to n-3 polyunsaturated fatty acids (n-3 PUFAs, i.e., EPA and DHA; however, fish is also an excellent source of protein and, recently, fish protein hydrolysates containing bioactive peptides have shown promising activities for the prevention/management of cardiovascular disease and associated health complications. The present review will focus on n-3 PUFAs and bioactive peptides effects on cardiovascular disease risk factors. Moreover, since considerable controversy exists regarding the association between n-3 PUFAs and major cardiovascular endpoints, we have also reviewed the main clinical trials supporting or not this association.

  20. Effect of Morinda citrifolia (Noni) Fruit Juice on High Fat Diet Induced Dyslipidemia in Rats.

    Science.gov (United States)

    Shoeb, Ahsan; Alwar, M C; Shenoy, Preethi J; Gokul, P

    2016-04-01

    The medicinal value of Morinda citrifolia L. (commonly known as Noni) has been explored in ancient folk remedies with a wide range of therapeutic utility, including antibacterial, antiviral, antifungal, antitumour, analgesic, hypotensive, anti-inflammatory and immune enhancing effects. The present study was designed to evaluate the effects of Noni fruit juice on serum lipid profile in high fat diet induced murine model of dyslipidemia. Hyperlipidemia was induced by feeding a cholesterol rich high fat diet for 45 days in wistar albino rats of either sex (n=8). Noni fruit juice administered at 50mg/kg/day and 100mg/kg/day, per oral, was compared with the standard drug Atorvastatin (10mg/kg/day, oral) fed for the latter 30 days. The blood samples were then sent for complete blood lipid profile, after 30 days of treatment. The data presented as mean ± SEM was analyzed using one-way ANOVA followed by Tukey's post-hoc test. The p juice treated group showed a significant decrease in the total cholesterol, triglycerides and very low density lipoprotein - Cholesterol at both the doses when compared to the disease control (pjuice at the 50mg/kg dose employed, failed to show a statistical significance when compared to atorvastatin. The present study provides evidence for the hypolipidemic activity of Noni fruit juice in high fat diet induced hyperlipidemia in rats.

  1. Prevalence of dyslipidemias in the Mexican National Health and Nutrition Survey 2006.

    Science.gov (United States)

    Aguilar-Salinas, Carlos A; Gómez-Pérez, Francisco J; Rull, Juan; Villalpando, Salvador; Barquera, Simón; Rojas, Rosalba

    2010-01-01

    To describe the prevalence of lipid abnormalities found in the Mexican National Health and Nutrition Survey 2006 (ENSANut 2006). Information was obtained from 4 040 subjects aged 20 to 69 years, studied after a 9- to 12-hour fast. Median lipid concentrations were: cholesterol 198.5 mg/dl, triglycerides 139.6 mg/dl, HDL-cholesterol 39.0 mg/dl, non-HDL-cholesterol 159.5 mg/dl and LDL-cholesterol 131.5 mg/dl. The most frequent abnormality was HDL-cholesterol below 40 mg/dl with a prevalence of 60.5% (95%CI 58.2-62.8%). Hypercholesterolemia (> 200 mg/dl) had a frequency of abnormality of 43.6% (95%CI 41.4-46.0%). Only 8.6% of the hypercholesterolemic subjects knew their diagnosis. Hypertriglyceridemia (>or= 150 mg/dl) was observed in 31.5% (IC 95% 29.3-33.9%) of the population. The ENSANUT 2006 data confirm that the prevalence of hypoalphalipoproteinemia and other forms of dyslipidemia in Mexican adults is very high.

  2. Dyslipidemia modulates Müller glial sensing and transduction of ambient information

    Directory of Open Access Journals (Sweden)

    Monika Lakk

    2018-01-01

    Full Text Available Unesterified cholesterol controls the fluidity, permeability and electrical properties of eukaryotic cell membranes. Consequently, cholesterol levels in the retina and the brain are tightly regulated whereas depletion or oversupply caused by diet or heredity contribute to neurodegenerative diseases and vision loss. Astroglia play a central role in the biosynthesis, uptake and transport of cholesterol and also drive inflammatory signaling under hypercholesterolemic conditions associated with high-fat diet (diabetes and neurodegenerative disease. A growing body of evidence shows that unesterified membrane cholesterol modulates the ability of glia to sense and transduce ambient information. Cholesterol-dependence of Müller glia - which function as retinal sentinels for metabolic, mechanical, osmotic and inflammatory signals - is mediated in part by transient receptor potential V4 (TRPV4 channels. Cholesterol supplementation facilitates, whereas depletion suppresses, TRPV4-mediated transduction of temperature and lipid agonists in Müller cells. Acute effects of cholesterol supplementation/depletion on plasma membrane ion channels and calcium homeostasis differ markedly from the effects of chronic dyslipidemia, possibly due to differential modulation of modality-dependent energy barriers associated with the functionality of polymodal channels embedded within lipid rafts. Understanding of cholesterol-dependence of TRP channels is thus providing insight into dyslipidemic pathologies associated with diabetic retinopathy, glaucoma and macular degeneration.

  3. Therapeutic potential of Moringa oleifera leaves in chronic hyperglycemia and dyslipidemia: a review

    Directory of Open Access Journals (Sweden)

    Majambu eMbikay

    2012-03-01

    Full Text Available Moringa oleifera (M. oleifera is an angiosperm plant, native of the Indian subcontinent, where its various parts have been utilized throughout history as food and medicine. It is now cultivated in all tropical and subtropical regions of the world. The nutritional, prophylactic, and therapeutic virtues of this plant are being extolled on the Internet. Dietary consumption of its part is therein promoted as a strategy of personal health preservation and self-medication in various diseases. The enthusiasm for the health benefits of M. oleifera is in dire contrast with the scarcity of strong experimental and clinical evidence supporting them. Fortunately, the chasm is slowly being filled. In this article, I review current scientific data on the corrective potential of M. oleifera leaves in chronic hyperglycemia and dyslipidemia, as symptoms of diabetes and cardiovascular disease risk. Reported studies in experimental animals and humans, although limited in number and variable in design, seem concordant in their support for this potential. However, before M. oleifera leaf formulations can be recommended as medication in the prevention or treatment of diabetes and cardiovascular disease, it is necessary that the scientific basis of their efficacy, the therapeutic modalities of their administration and their possible side effects be more rigorously determined.

  4. The potential influence of atherogenic dyslipidemia on the severity of chronic Chagas heart disease

    Directory of Open Access Journals (Sweden)

    Luz Peverengo

    2016-02-01

    Full Text Available SUMMARY Introduction: chronic Chagas heart disease (CCHD is the most common manifestation of American Trypanosomiasis, causing about 50,000 deaths annually. Several factors bear correlation with the severity of CCHD. However, to our knowledge, the assessment on the contribution of major cardiovascular risk factors (CRF, such as hypertension and atherogenic dyslipidemia (AD to CCHD severity is scarce, despite their well-established role in coronary artery disease, heart failure and stroke. Objective: to explore the potential relationship of blood pressure and AD with the clinical profile of patients with CCHD. Methods: we performed a cross-sectional study in T. cruziseropositive patients categorized according to a standard CCHD classification. All individuals were subjected to complete clinical examination. Autoantibodies induced by T. cruzi were assessed by ELISA. Results: we observed that Atherogenic index (AI levels rose significantly in relation to the severity of the CCHD stage, with CCHD III cases showing the highest values of AI. Furthermore, those patients with globally dilated cardiomyopathy with reduced ejection fraction showed higher levels of AI. In regard to autoantibodies, anti-B13 also showed relation with the severity of the disease. Conclusion: we observed that AI correlated with CCHD stages and contributed, in association with anti-B13 antibodies and age, to the prediction of systolic heart failure.