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Sample records for chinese han patients

  1. DNM2 mutations in Chinese Han patients with centronuclear myopathy.

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    Lin, Pengfei; Liu, Xinhong; Zhao, Dandan; Dai, Tingjun; Wu, Huamin; Gong, Yaoqin; Yan, Chuanzhu

    2016-06-01

    Centronuclear myopathy (CNM) is a congenital myopathy characterized by an abnormally high number of muscle fibers with centrally located nuclei. Autosomal-dominant centronuclear myopathy-1 (CNM1) results from mutations in the dynamin 2 gene (DNM2) and accounts for approximately 50 % of all CNM cases. Up to now, around 35 mutations of DNM2 gene have been identified in CNM; however, the underlying molecular mechanism of DNM2 mutation in the pathology of CNM remains elusive, and the standard clinical characteristics and the genotype-phenotype correlation of DNM2 gene mutation with CNM have not yet been defined. Here, we report the clinical characteristics, molecular diagnosis strategy, and DNM2 gene mutations of four Chinese Han patients with CNM. Congenital myopathy-targeted next-generation sequencing (NGS) was applied to sequence the regions of the genome that contain all the coding regions of all known CNM genes and other congenital myopathy genes. We found potential DNM2 mutations in all four of the patients. Further targeted Sanger DNA sequencing of DNM2 found the 1106G>A (p.R369Q) mutation in patients 1 and 2, the c.1393C>T (p.R465W) mutation in patient 3, and the c.1565G>A (p.R522H) mutation in patient 4, all of which were reported previously to be causative mutations of DNM2-related CNM. Our results suggest that the combination of targeted NGS and Sanger sequencing is an effective, rapid, and reliable strategy for the molecular diagnosis of CNM and other genetically heterogeneous disorders. PMID:26908122

  2. MC1R variants in Chinese Han patients with sporadic Parkinson's disease.

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    Shi, Chang-He; Wang, Hui; Mao, Cheng-Yuan; Yang, Jing; Song, Bo; Liu, Yu-Tao; Yang, Zhi-Hua; Luo, Hai-Yang; Zhang, Shu-Yu; Wu, Jun; Xu, Yu-Ming

    2016-06-01

    Recently, a variant p.R160W in the MC1R gene was identified that increased the risk of Parkinson's disease (PD) in Spanish population. To explore whether the MC1R gene variants are associated with sporadic PD in Chinese population, we performed a case-control comparison study for comprehensive MC1R variant screening in 510 Chinese Han patients and 495 healthy controls as ethnically matched controls. We identify 5 nonsynonymous variants, including rs34090186 (p.R67Q), rs2228479 (p.V92M), rs33932559 (p.I120T), rs885479 (p.R163Q), and rs372152373 (p.R223W). However, variants mentioned previously did not show association with PD. Our results suggest that variants in MC1R do not play a major role in PD in the Chinese population. PMID:27084066

  3. Quantitative candidate gene association studies of metabolic traits in Han Chinese type 2 diabetes patients.

    Science.gov (United States)

    Wei, F J; Cai, C Y; Yu, P; Lv, J; Ling, C; Shi, W T; Jiao, H X; Chang, B C; Yang, F H; Tian, Y; Li, M S; Wang, Y H; Zou, L; Shi, J M; Chen, L M; Li, W D

    2015-01-01

    Recent genome-wide association studies have identified many loci associated with type 2 diabetes mellitus (T2DM), hyperuricemia, and obesity in various ethnic populations. However, quantitative traits have been less well investigated in Han Chinese T2DM populations. We investigated the association between candidate gene single nucleotide polymorphisms (SNPs) and metabolic syndrome-related quantitative traits in Han Chinese T2DM subjects. Unrelated Han Chinese T2DM patients (1975) were recruited. Eighty-six SNPs were genotyped and tested for association with quantitative traits including lipid profiles, blood pressure, body mass index (BMI), serum uric acid (SUA), glycated hemoglobin (HbA1c), plasma glucose [fasting plasma glucose (FPG)], plasma glucose 120 min post-OGTT (P2PG; OGTT = oral glucose tolerance test), and insulin resistance-related traits. We found that CAMTA1, ABI2, VHL, KAT2B, PKHD1, ESR1, TOX, SLC30A8, SFI1, and MYH9 polymorphisms were associated with HbA1c, FPG, and/or P2PG; GCK, HHEX, TCF7L2, KCNQ1, and TBX5 polymorphisms were associated with insulin resistance-related traits; ABCG2, SLC2A9, and PKHD1 polymorphisms were associated with SUA; CAMTA1, VHL, KAT2B, PON1, NUB1, SLITRK5, SMAD3, FTO, FANCA, and PCSK2 polymorphisms were associated with blood lipid traits; CAMTA1, SPAG16, TOX, KCNQ1, ACACB, and MYH9 polymorphisms were associated with blood pressure; and UBE2E3, SPAG16, SLC2A9, CDKAL1, CDKN2A/B, TCF7L2, SMAD3, and PNPLA3 polymorphisms were associated with BMI (all P values <0.05). Some of the candidate genes were associated with metabolic and anthropometric traits in T2DM in Han Chinese. Although none of these associations reached genome-wide significance (P < 5 x 10(-8)), genes and loci identified in this study are worthy of further replication and investigation. PMID:26634513

  4. Polymorphism of the catechol-O-methyltransferase gene in Han Chinese patients with psoriasis vulgaris

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    Lin Gao

    2009-01-01

    Full Text Available Psoriasis vulgaris is defined by a series of linked cellular changes in the skin: hyperplasia of epidermal keratinocytes, vascular hyperplasia and ectasia, and infiltration of T lymphocytes, neutrophils and other types of leukocytes in the affected skin. Catechol-O-methyltransferase ( COMT 158 polymorphism can reduce the activity of the COMT enzyme that may trigger defective differentiation of keratinocytes in psoriasis. Immunocytes can degrade and inactivate catecholamines via monamine oxidase (MAO and COMT in the cells. We hypothesized that the COMT-158 G > A polymorphism was associated with the risk of psoriasis vulgaris in Han Chinese people. In a hospital-based case-control study, 524 patients with psoriasis vulgaris and 549 psoriasis-free controls were studied. COMT-158 G > A polymorphism was genotyped using the PCR sequence-specific primer (PCR-SSP technique. We found no statistically significant association between the COMT-158 allele A and the risk of psoriasis vulgaris (p = 0.739 adjusted OR = 1.03; 95% CI = 0.81-1.31. This suggests that the COMT-158 G > A polymorphism may not contribute to the etiology of psoriasis vulgaris in the Han Chinese population.

  5. Polymorphisms of renin-angiotensin-aldosterone system gene in chinese han patients with nonfamilial atrial fibrillation.

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    Li-Qun Zhao

    Full Text Available Atrial fibrillation(AF is the most common arrhythmia in the adult population. The activated renin-angiotensin-aldosterone system (RAS has been reported to play an important role in the pathogenesis of atrial fibrillation. The aim of this study was to investigate the association between nonfamilial AF and polymorphisms in RAS gene.A total of 931 patients with nonfamilial AF, 663 non-AF heart disease patients and 727 healthy subjects were selected. 10 tagSNPs (tSNPs (ACE gene rs8066114, AGT gene rs7539020, rs3789678, rs2478544, rs11568023, rs2478523, rs4762, rs699 and CYP11B2 rs3802230, rs3097 were chosen and genotyped in our study. Single-locus analysis and haplotype analysis were used in this study.In single-locus analysis, we found rs11568023 and rs3789678 in AGT gene were associated with nonfamilial AF in Chinese Han population. AF risk was associated with rs3789678 between the AF group and control groups. Under dominant model, the significant AF risk was observed in rs3789678 between the AF group and non AF heart control group; And the protective effect was found in rs11568023, compared with the non-AF heart disease control group. In multilocus haplotype analysis, the association between frequencies of the haplotypes and AF risk was showed in AGT gene (rs7539020-rs3789678, compared 'TT' haplotype with the common 'TC' haplotype, adjusted for age, gender, LVEF, LVEDD, LAD and frequency of hypertension and diabetes. The diplotype with 'TC', carrying rs3789678-C-allele, was associated with reduced risk of AF between the AF group and the healthy control group. The diplotype with 'TT' haplotype in the same block, carrying rs3789678-T-allele, was associated with increased risk of AF.Via a large-scale case-control study, we found that rs3789678 site was potential susceptible locus of AF whereas rs11568023 was protective factor.

  6. Distribution Characteristics and Linkage Disequilibrium of TIM4 Promoter Polymorphisms in Asthma Patients of Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    Pengcheng CAI; Qiwen WU; Lin WANG; Juan XIONG; Fenghua CHEN; Lihua HU

    2008-01-01

    To investigate the distribution characteristics and linkage disequilibrium of T cell immunoglobulin domain and mucin domain protein 4 (TIM4) promoter polymorphisms in asthma patients of Chinese Han population, the promoter region of TIM4 was re-sequenced by PCR-sequencing,and linkage disequilibrium was analyzed by SHEsis software. Four single nucleotide polymorphisms (SNPs) in the promoter region of TIM4 were detected, including two new SNPs (at positions-1609, -153) and two reported SNPs (rs6874202, rs6882076). The frequency distribution of rs6882076 was different among different races (P<0.05). In addition, linkage disequilibrium among the SNPs of the promoter region of TIM4 was found and GGTG was the predominant haplotype.There were four SNPs in the promoter region of TIM4 in asthma patients of Chinese Han population,which were in linkage disequilibrium.

  7. Han Chinese patients with dopa-responsive dystonia exhibit a low frequency of exonic deletion in the GCH1 gene.

    Science.gov (United States)

    Shi, W T; Cai, C Y; Li, M S; Ling, C; Li, W D

    2015-01-01

    We identified three novel mutations of the GTP cyclohydrolase 1 (GCH1) gene in patients with familial dopa-responsive dystonia (DRD), but were unable to identify meaningful sporadic mutations in patients with no obvious family DRD background. To investigate whether GCH1 regional deletions account for the etiology of DRD, we screened for heterozygous exonic deletions in DRD families and in patients with sporadic DRD. Multiple ligation-dependent probe amplification analysis and quantitative real-time polymerase chain reaction amplification was performed in all members of our DRD cohort and in controls to detect exonic deletions in GCH1, tyrosine hydroxylase, and the epsilon-sarcoglycan-encoding (SGCE) genes. Using these techniques, we detected a GCH1 exon 1 heterozygous deletion in 1 of 10 patients with sporadic DRD. Therefore, we concluded that exonic deletion in the GCH1 gene only accounted for the etiology in a small percentage of patients with sporadic DRD in our Han Chinese cohort. PMID:26400349

  8. Effect of genetic and coexisting polymorphisms on platelet response to clopidogrel in Chinese Han patients with acute coronary syndrome

    Indian Academy of Sciences (India)

    XU LIU; YU LUO; YAN LAI; YIAN YAO; JIMIN LI; YUNKAI WANG; S.LILLY ZHENG; JIANFENG XU; XUEBO LIU

    2016-06-01

    Polymorphisms of CYP2C19 are associated with platelet response to clopidogrel. This study was conducted to evaluate the contribution of the previously identified polymorphisms to the response of clopidogrel in a cohort of Chinese Han patients. Atotal of 222 acute coronary syndrome patients undergoing percutaneous coronary intervention treated with clopidogrel were enrolled from September 2012 to June 2013. Residual platelet aggregations for all patients were measured by the Verify Now P2Y12 system. Sixteen single-nucleotide polymorphisms among nine genes were genotyped including CYP2C19, ABCB1 and PON1. In this study, CYP2C19*2 and CYP2C19*17 were strongly associated with higher platelet aggregation and lower platelet aggregation to clopidogrel treatment, respectively (P ≯0.001). Patients with CYP2C19*2 allele had a higher risk of high on-treatment platelet reactivity than non carriers (adjusted OR, 5.434; 95% CI, 1.918–15.399, P=0.01). The coexistenceof CYP2B6*9 (rs8192719) and P2Y12 (rs2046934) and the coexistence of CYP2B6*1B (rs7254579) and P2Y12 (rs2046934) were also associated with poor response to clopidogrel. No significant relation of CYP2C19*3 and other polymorphisms to the platelet aggregation was found. In conclusion, CYP2C19*2, CYP2C19*17 coexistence of CYP2B6*9 (rs8192719) and P2Y12 (rs2046934) and coexistence of CYP2B6*1B (rs7254579) and P2Y12 (rs2046934) were identified to be associated with response to clopidogrel treatment in Chinese Han patients.

  9. Polymorphism analysis of PARK2 gene mutations in Han Chinese patients with early-onset Parkinson's disease

    Institute of Scientific and Technical Information of China (English)

    Yuancheng Bao; Ting Guan; Yuanxun Yu; Huaizhou Jiang; Changshui Fang; Lijuan Chen

    2010-01-01

    The PARK2 gene is a common disease gene in Han Chinese patients with Parkinson's disease.The detection of mutations in the PARK2 gene remains low.To investigate the role PARK2 gene mutations play in the pathogenesis of Parkinson's disease,30 Han Chinese patients with early-onset Parkinson's disease and 38 normal controls were studied to determine the sequence changes of 1,4,6 and 7 exon sections.In the 30 patients with Parkinson's disease,a heterozygous intron mutation(nt 119,G→G/A)in exon 1 was detected in one case;a homozygous intron mutation(nt 526500,T→C)between intron 3 and exon 4 in fourteen cases was found;a heterozygous intron mutation(nt 526607,G→G/A)between intron 3 and exon 4 was observed in eight cases;an exon 6missense mutation(nt 754317,C→C/T;codon 193,CGG→CGG/TGG;aa 193,Arg→Arg/Trp)in three cases was seen;and an exon 7 missense mutation(nt 941943,C→A/C;codon 272,CTC→CTC/ATC;aa 272,Leu→Leu/lle)was found in one case.These changes were not found in the normal population.The results indicated that the PARK2 exons 6 and 7 mutations are possibly pathogenic mutations,along with the intron 3-exert 4 and exon 1 mutations.PARK2 gene mutations are possible factors leading to the onset of Parkinson's disease.

  10. The association of metabolic syndrome with left ventricular mass and geometry in community-based hypertensive patients among Han Chinese

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    Shuxia Wang

    2015-01-01

    Full Text Available Background: The association of metabolic syndrome (MS with left ventricular (LV hypertrophy is controversial. The objective of our study was to investigate the influence of MS on LV mass and geometry in community-based hypertensive patients among Han Chinese. Materials and Methods: This study included 1733 metabolic syndrome patients according to the International Diabetes Federation (IDF definition and 2373 non-MS hypertension patients. LV hypertrophy was diagnosed by the criteria of LV mass ≥49.2 g/m 2.7 for men and 46.7 g/m 2.7 for women. LV geometric patterns (normal, concentric remodeling, concentric or eccentric hypertrophy were calculated according to LV hypertrophy and relative wall thickness. Logistic regression analysis was used to determine odds ratio (OR and 95% confidence interval (CI of MS for LV hypertrophy and LV geometry abnormality. Results: The LV mass and LV mass index were higher in the MS group than in the non-MS group. In multiple adjusted models. LV mass index, LV mass, interventricular septum, and post wall were raised with the increased number of MS disorders. MS was associated with increased LV hypertrophy risk (unadjusted OR 1.38; 95% CI 1.21-1.57; age, sex, and blood pressure (BP; adjusted OR 1.39; 95% CI 1.22-1.59. MS was also associated with increased risk of eccentric hypertrophy in male and female patients. MS was only associated with increased risk of concentric hypertrophy in female patients; and MS was not associated with concentric remodeling. Conclusion: LV mass and LV mass index were associated with the increased number of MS disorders in the Chinese community-based hypertensive population. MS was not only associated with increased LV hypertrophy risk, but also associated with concentric and eccentric LV geometry abnormality, especially in females.

  11. Analysis of PPARGC1B, RUNX3 and TBKBP1 polymorphisms in Chinese Han patients with ankylosing spondylitis: a case-control study.

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    Zijian Lian

    Full Text Available BACKGROUND: Susceptibility to and severity of ankylosing spondylitis (AS are largely genetically determined. PPARGC1B, RUNX3 and TBKBP1 have recently been found to be associated with AS in patients of western European descent. Our purpose is to examine the influence of PPARGC1B, RUNX3 and TBKBP1 polymorphisms on the susceptibility to and the severity of ankylosing spondylitis in Chinese ethnic majority Han population. METHODS: Blood samples are drawn from 396 AS patients and 404 unrelated healthy controls. All the patients and the controls are Han Chinese and the patients are HLA-B27 positive. The AS patients are classified based on the severity of the disease. Twelve tag single nucleotide polymorphisms (tagSNPs in PPARGC1B, RUNX3 and TBKBP1 are selected and genotyped. Frequencies of different genotypes and alleles are analyzed among the different severity AS patients and the controls. RESULTS: After Bonferroni correction, the rs7379457 SNP in PPARGC1B shows significant difference when comparing all AS patients to controls (p = 0.005. This SNP also shows significant difference when comparing normal AS patients to controls (p = 0.002. The rs1395621 SNP in RUNX3 shows significant difference when comparing severe AS patients to controls (p = 0.007. The rs9438876 SNP in RUNX3 shows significant difference when comparing normal AS patients to controls (p = 0.007. The rs8070463 SNP in TBKBP1 shows significant difference in genotype distribution when comparing severe AS patients to controls (p = 0.003. CONCLUSIONS: The rs7379457 SNP in PPARGC1B is related to susceptibility to AS in Chinese Han population. The rs7379457 SNP in PPARGC1B, the rs1395621 and rs9438876 SNPs in RUNX3, and the rs8070463 SNP in TBKBP1 are related to the severity of AS in Chinese Han population.

  12. Ischemic stroke susceptibility gene in a Northern Han Chinese population

    OpenAIRE

    Wang, Haiping; Shi, Shujuan; Yan, Wenjing; Song, Yan; Zhan, Jingjing; Zhang, Chen; Wang, Haiji

    2013-01-01

    Interleukin-18 gene promoter polymorphisms are potential risk factors for ischemic cerebrovascular disease, and the –607C allele may increase ischemic stroke risk in the Han Chinese population. In the present study, we recruited 291 patients with ischemic cerebrovascular disease from the Affiliated Hospital of Qingdao University Medical College, China, and 226 healthy controls. Both patients and controls were from the Han population in northern China. Immunoresonance scattering assays detecte...

  13. Investigation of CD28 gene polymorphisms in patients with sporadic breast cancer in a Chinese Han population in Northeast China.

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    Shuang Chen

    Full Text Available BACKGROUND: CD28 is one of a number of costimulatory molecules that play crucial roles in immune regulation and homeostasis. Accumulating evidence indicates that immune factors influence breast carcinogenesis. To clarify the relationships between polymorphisms in the CD28 gene and breast carcinogenesis, a case-control study was conducted in women from Heilongjiang Province in northeast of China. METHODOLOGY/PRINCIPAL FINDINGS: Our research subjects consisted of 565 female patients with sporadic breast cancer and 605 age- and sex-matched healthy controls. In total, 12 single nucleotide polymorphisms (SNPs in the CD28 gene were successfully determined using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP method. The relationship between the CD28 variants and clinical features, including histological grade, tumor size, lymph node metastasis, human epidermal growth factor receptor 2 (C-erbB2, estrogen receptor (ER, progesterone receptor (PR, and tumor protein 53 (P53 status were analyzed. A statistically significant association was observed between rs3116496 and breast cancer risk under different genetic models (additive P = 0.0164, dominant P = 0.0042. Different distributions of the rs3116496 'T' allele were found in patients and controls, which remained significant after correcting the P value for multiple testing using Haploview with 10,000 permutations (corrected P = 0.0384. In addition, significant associations were observed between rs3116487/rs3116494 (D' = 1, r(2 = 0.99 and clinicopathological features such as C-erbB2 and ER status, in breast cancer patients. CONCLUSIONS/SIGNIFICANCE: Our findings indicate that CD28 gene polymorphisms contribute to sporadic breast cancer risk and have a significant association with clinicopathological features in a northeast Chinese Han population.

  14. Clinical features of patients with dysthymia in a large cohort of Han Chinese women with recurrent major depression.

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    Wenqing Wu

    Full Text Available BACKGROUND: Dysthymia is a form of chronic mild depression that has a complex relationship with major depressive disorder (MDD. Here we investigate the role of environmental risk factors, including stressful life events and parenting style, in patients with both MDD and dysthymia. We ask whether these risk factors act in the same way in MDD with and without dysthymia. RESULTS: We examined the clinical features in 5,950 Han Chinese women with MDD between 30-60 years of age across China. We confirmed earlier results by replicating prior analyses in 3,950 new MDD cases. There were no significant differences between the two data sets. We identified sixteen stressful life events that significantly increase the risk of dysthymia, given the presence of MDD. Low parental warmth, from either mother or father, increases the risk of dysthymia. Highly threatening but short-lived threats (such as rape are more specific for MDD than dysthymia. While for MDD more severe life events show the largest odds ratio versus controls, this was not seen for cases of MDD with or without dysthymia. CONCLUSIONS: There are increased rates of stressful life events in MDD with dysthymia, but the impact of life events on susceptibility to dysthymia with MDD differs from that seen for MDD alone. The pattern does not fit a simple dose-response relationship, suggesting that there are moderating factors involved in the relationship between environmental precipitants and the onset of dysthymia. It is possible that severe life events in childhood events index a general susceptibility to chronic depression, rather than acting specifically as risk factors for dysthymia.

  15. Growth Hormone Therapy Benefits Pituitary Stalk Interruption Syndrome Patients with Short Stature: A Retrospective Study of 75 Han Chinese

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    Wang, Cheng-Zhi; Guo, Ling-Ling; Han, Bai-Yu; Wang, An-Ping; Liu, Hong-Yan; Su, Xing; Guo, Qing-Hua; Mu, Yi-Ming

    2016-01-01

    Objective. We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. Design and Methods. In this study, initial height, final height, total height gain, and GH treatment history were retrospectively investigated in 75 Chinese PSIS patients. We compared height gain between the GH treated cohort and untreated cohort and explored the impact of different GH therapy duration on height gain. Results. For GH treated patients, their final height (SDS) increased from −1.99 ± 1.91 (−6.93~2.80) at bone age (BA) of 11.2 (5.0~17.0) years to −1.47 ± 1.64 (−7.82~1.05) at BA of 16.6 (8.0~18.0) years (P = 0.016). And GH treated patients had more height gain than the untreated patients (P < 0.05). There was a significant difference between the different GH therapy duration groups (P = 0.001): GH 0 versus GH 3, P = 0.000; GH 1 versus GH 3, P = 0.028; GH 2 versus GH 3, P = 0.044. Conclusion. Adult Chinese PSIS patients with short stature benefited the most from at least 12 months of GH therapy. Although patient diagnosis age was lagged behind in the developing countries, GH treatment was still effective for them and resulted in a higher final height and more height gain. PMID:27190512

  16. Association of UCP3, APN, and TNF-a Gene Polymorphisms with Type 2 Diabetes in a Population of Northern Chinese Han Patients

    Institute of Scientific and Technical Information of China (English)

    WANG Ling-ling; DU Zhen-wu; LIU Jia-nan; WU Mei; SONG Yang; JIANG Ri-hua; ZHANG Gui-zhen

    2012-01-01

    We observed the polymorphism distribution and coaction of uncoupling protein 3(UCP3)-55C/T,adiponectin(APN)+45T/G and tumor necrosis factor(TNF)-a-308G/A on the onset and development of T2DM in a Northern Chinese Han population of 213[100 type 2 diabete(T2DM)patients and 113 health control subjects]by polymerase chain reaction-restriction fragment length polymorphisum(PCR-RFLP)method.Results demonstrate the polymorphism of UCP3-55C/T,APN+45T/G,and TNF-α-308G/A related to T2DM onset and developement.And the individuals carrying UCP3-55T,APN+45G and TNF-α-308A allele had higher T2DM risk.Those results are the first report to evaluate the association of the coaction of UCP3,APN,TNF-α genes polymorphism on T2DM risk and the susceptibility of T2DM in the Northern Chinese Han population.

  17. Linkage of three polymorphisms on chromosome 20p12 to ossification of the posterior longitudinal ligament of spine and its severity in Han Chinese patients

    Institute of Scientific and Technical Information of China (English)

    YAN Liang; ZHAO Wei-guang; LI Jin-jun; YANG Hui; WANG Hao; LIN Xin

    2010-01-01

    Background Ossification of the posterior longitudinal ligament (OPLL) is characterized by the replacement of ligamentous tissue with new ectopic bone formation, and has a strong genetic background. Because of the abnormal bone metabolic features and the strong genetic component, osteoporosis is a related disorder with OPLL. Three polymorphisms on chromosome 20p12 were identified associated with the risk of osteoporosis and osteoporotic fracture.The rs996544 (C/T) "TT" and rs965291 (G/A) "AA" genotypes conferred higher risks for vertebral and hip fractures. The osteoporosis haplotype is defined by two polymorphisms, rs1116867 (A) and D35548 (T). However, it remains unknown whether these three polymorphisms predispose to an increased frequency and severity of OPLL in Han Chinese patients.Methods A total of 420 OPLL patients and 506 age- and sex-matched controls were studied. Three single nucleotide polymorphisms (SNPs), rs996544 (C/T), rs965291 (G/A) and rs1116867 (A/G), were analyzed by direct sequencing.Associations between these SNPs with the occurrence and extent of OPLL were statistically evaluated.Results There was no significant association between the rs996544 (C/T) polymorphism and the prevalence of OPLL.The rs1116867 (A/G) polymorphism "AG" genotype was associated with the occurrence of OPLL. The rs1116867 (A/G) polymorphism "G" allele was associated with the occurrence of OPLL, but not with the extent of OPLL. The rs965291 (G/A) polymorphism in female patients was statistically different between cases and controls (P <0.05). The rs965291 (G/A) polymorphism "A" allele was associated with the occurrence of OPLL in female patients. For the rs965291 (G/A)polymorphism, patients with the "A" allele (genotype, "AG" or "AA") showed a significantly greater number of ossified cervical vertebrae than those without the "A" allele (genotype, "GG", P <0.05), particularly in female patients.Conclusions The rs1116867 (A/G) and rs965291 (G/A) polymorphisms on

  18. Serum IL-18 level, clinical symptoms and IL-18-607A/C polymorphism among chronic patients with schizophrenia in a Chinese Han population.

    Science.gov (United States)

    Zhang, Xiang Yang; Tan, Yun-Long; Chen, Da-Chun; Tan, Shu-Ping; Malouta, Michelle Z; Bernard, Jared D; Combs, Jessica L; Bhatti, Sarai; Davis, Michael C; Kosten, Thomas R; Soares, Jair C

    2016-06-01

    Literature suggests that alterations in the inflammatory and immune systems are involved in the pathogenesis of schizophrenia. Specifically, patients diagnosed with schizophrenia exhibit increased IL-18, a pleiotropic proinflammatory cytokine in type 1 T-helper (Th1) responses. The functional 607A/C promoter polymorphism of the IL-18 gene is also associated with the psychopathology of this disorder. However, no current study has explored its role in the clinical symptoms of schizophrenia as mediated through IL-18 levels. We recruited 772 inpatients with schizophrenia and 775 healthy controls in a Han Chinese population and genotyped the IL-18-607A/C polymorphism. Patient psychopathology was assessed using the Positive and Negative Syndrome Scale (PANSS). Serum IL-18 levels were measured in 80 patients and 93 healthy controls. Our results showed that there were no significant differences in the distribution of the allele and genotype frequencies between the patients and controls. Both increased IL-18 serum level and the IL-18-607A/C polymorphism were positively associated with the PANSS general psychopathology subscore and the PANSS total score. Moreover, interaction of increased IL-18 serum level and the IL-18-607A/C polymorphism influenced the clinical psychopathological symptoms, indicating that association of IL-18 level with the PANSS general psychopathology subscale or the total scores was present only among patients carrying the C allele. We demonstrate an association between the IL-18-607A/C variant and clinical psychopathological symptoms in schizophrenia. Findings suggest that the association between higher IL-18 levels and clinical symptoms in schizophrenia is dependent on the IL-18-607A/C polymorphism. PMID:26974498

  19. Xue Han Zi: using multimedia to teach chinese

    OpenAIRE

    Lam, Sun; Oliveira, Alexandre Rocha; Lavender, Tony; Cabral, Luís; Marcos, Adérito

    2001-01-01

    As the Chinese-speaking areas are becoming the focus of the world economy, more and more people are attracted by their language and culture. The number of beginners in Chinese language is growing rapidly. Although the Chinese language has unique characteristics, there are still very few teaching and learning materials which serve the basic needs for starting the acquisition of Han Zi. A multimedia application, both in CD-ROM and on-line, can provide a virtual teacher for understanding a...

  20. Creating a New Chinese Cyber-Celebrity : A Cultural Analysis of Han Han's Blog as Web-based Media Spectacle

    OpenAIRE

    Berg, DPhil (Oxon), Daria; Strafella, Giorgio

    2014-01-01

    Novelist and race-car driver Han Han stars as the world's most popular blogger, boasting 595 million hits. China has emerged as the world's largest Internet population with 591 million netizens and a 44% penetration rate, rapidly increasing the number of Chinese citizens able to exchange information and opinions through non-official channels. Using Han Han as a case study, this paper aims first, to analyse how China's cybersphere creates a new type of celebrity; and second, how Han Han's blog...

  1. Gene Expression Profile of Human Skeletal Muscle and Adipose Tissue of Chinese Han Patients with Type 2 Diabetes Mellitus

    Institute of Scientific and Technical Information of China (English)

    YAN-LI YANG; RUO-LAN XIANG; CHANG YANG; XIAO-JUN LIU; WEN-JUN SHEN; JIN ZUO; YONG-SHENG CHANG; FU-DE FANG

    2009-01-01

    Objective To study the differential patterns of gene expression in skeletal muscle and adipose tissue between type 2 diabetes mellitus (T2DM) patients and healthy subjects using DNA microarray analysis. Methods T2DM patiens were divided into female group, young male group and old male group. DNA microarray analysis and quantitative real-time PCR were carried out to analyze the relation between gene expressions and T2DM. Results The mRNA expression of 298, 578, and 350 genes was changed in the skeletal muscle of diabetes mellitus patients compared with control subjects. The 1320, 1143, and 2847 genes were modified in adipose tissue of the three groups. Among the genes surveyed, the change of 25 and 39 gene transcripts in skeletal muscle and adipose tissue was ≥2 folds. These differentially expressed genes were classified into 15 categories according to their functions. Conclusion New genes are found and T2DM can be prevented or cured.

  2. Analysis of the genotype of diacylglycerol kinase delta single-nucleotide polymorphisms in Parkinson disease in the Han Chinese population

    OpenAIRE

    Wei Song; Yong Ping Chen; Rui Huang; Ke Chen; Ping Lei Pan; Jianpeng Li; Yuan Yang; Hui-Fang Shang

    2012-01-01

    Numerous Single-Nucleotide Polymorphisms (SNPs) of the Diacylglycerol Kinase Delta (DGKD) isoform 1 gene have been associated with Parkinson Disease (PD) in the genome-wide association studies of Caucasian population. This association has not been proven in the Han Chinese PD patients. This study included 376 unrelated Han Chinese PD patients from West China and 273 unrelated healthy controls from the same region. Five SNPs (rs2971859, rs1550532, rs2305539, rs2034762, and rs2242102) were geno...

  3. Hereditary Breast Cancer in the Han Chinese Population

    OpenAIRE

    CAO, WENMING; Wang, Xiaojia; Li, Ji-Cheng

    2013-01-01

    Breast cancer is the most common malignancy among women and has a strong genetic background. So far, 13 breast cancer susceptibility genes of high or moderate penetrance have been identified. This review summarizes findings on these genes in Han Chinese. BRCA1 and BRCA2 are the 2 most important susceptibility genes. They have a relatively low mutation rate, and the most frequent sites of mutation are in exon 11. Frameshift mutations are the main type of mutation. Founder mutations may also ex...

  4. Risks associated with premature ovarian failure in Han Chinese women.

    Science.gov (United States)

    Wang, Huidan; Chen, Haitao; Qin, Yingying; Shi, Zhuqing; Zhao, Xiaoming; Xu, Jianfeng; Ma, Bowen; Chen, Zi-Jiang

    2015-04-01

    In this retrospective study, the relationship between demographic characteristics, past medical history, general lifestyle habits and susceptibility of premature ovarian failure (POF) in Han Chinese population was investigated. Five hundred and fifty-three patients with POF and 400 women with normal ovarian function were recruited. A questionnaire was designed to gather information from responders. Logistic regression was carried out to calculate odds ratios (OR), 95% confidence intervals (95% CI) and P-values. History of pelvic surgery, mumps, having relatives with menstrual abnormalities and exposure to chemical agents were significantly associated with increased risk of POF (OR 5.53 [2.15 to 14.23]; 3.26 [2.38 to 4.47]; 28.12 [8.84 to 89.46]; 4.47 [2.09 to 9.58]). Vegetarian diet, tea and mineral water consumption reduced the risk of POF (OR 0.27 [0.19 to 0.37]; 0.04 [0.03 to 0.07]; 0.63 [0.47 to 0.85], respectively). Heredity, pelvic surgery, mumps and exposure to chemical agents were identified as risk factors for POF, whereas vegetarian diet, tea consumption and mineral water drinking were protective. Therefore, genetic consultation could help those women whose relatives manifested an early or premature menopause to avoid the consequences of possible premature ovarian function cessation. Avoidance of exposure to endocrine disrupters and flavonoids intake should be considered. PMID:25682306

  5. Association of Gghrelin Polymorphisms with Metabolic Syndrome in Han Nationality Chinese

    Institute of Scientific and Technical Information of China (English)

    LING-LING XU; HONG-DING XIANG; CHANG-CHUN QIU; QUN XU

    2008-01-01

    Objective To investigate the association of ghrelin gene polymorphisms with metabolic syndrome in Han Nationality Chinese. Methods A total of 240 patients with metabolic syndrome annd 427 adults aged above forty years were recruited. Genotypes were determined by polymerase chain reaction and restriction fragment lengthpolymorphism analysis.Results The allelic frequency of the Leu72Met polymorphismwas 17.3% in the patient group and 11.9% in the control group(x2=7.36, P=0.007). Metabolic syndrome was more prevalent among carriers of the Met72 variant (43.8 vs 33.1%, age- and sex-adjusted odds ratio=1.57, P=0.01). No Arg51Gln variants were found in our study subjects. Conclusion Rather than being associated with its individual components, Leu72Met polymorphism is associated with metabolic syndrome in the Han Nationality Chinese. Arg51Gln polymorphism is rare in the Hart Nationality Chinese.

  6. Clinical analysis of intraoperative radiotherapy during breast-conserving surgery of early breast cancer in the Chinese Han population

    OpenAIRE

    Xin WANG; Liu, Jiaqi; Wang, Wenyan; Feng, Qinfu; Wang, Xiang

    2015-01-01

    Purpose While results of intraoperative radiotherapy (IORT) during breast-conserving surgery (BCS) have been reported when used either as a boost at the time of surgery or as the sole radiation treatment, the clinical safety and cosmetic outcome of IORT in the Chinese Han population has not. This report reviews oncologic and cosmetic outcomes for Chinese Han breast cancer patients who received IORT either as a boost or as their sole radiation treatment at our hospital. Method From July 2008 t...

  7. Complete blood count reference intervals for healthy Han Chinese adults.

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    Xinzhong Wu

    Full Text Available Complete blood count (CBC reference intervals are important to diagnose diseases, screen blood donors, and assess overall health. However, current reference intervals established by older instruments and technologies and those from American and European populations are not suitable for Chinese samples due to ethnic, dietary, and lifestyle differences. The aim of this multicenter collaborative study was to establish CBC reference intervals for healthy Han Chinese adults.A total of 4,642 healthy individuals (2,136 males and 2,506 females were recruited from six clinical centers in China (Shenyang, Beijing, Shanghai, Guangzhou, Chengdu, and Xi'an. Blood samples collected in K2EDTA anticoagulant tubes were analyzed. Analysis of variance was performed to determine differences in consensus intervals according to the use of data from the combined sample and selected samples.Median and mean platelet counts from the Chengdu center were significantly lower than those from other centers. Red blood cell count (RBC, hemoglobin (HGB, and hematocrit (HCT values were higher in males than in females at all ages. Other CBC parameters showed no significant instrument-, region-, age-, or sex-dependent difference. Thalassemia carriers were found to affect the lower or upper limit of different RBC profiles.We were able to establish consensus intervals for CBC parameters in healthy Han Chinese adults. RBC, HGB, and HCT intervals were established for each sex. The reference interval for platelets for the Chengdu center should be established independently.

  8. Molecular characterization of a Han Chinese family with essential hypertension.

    Science.gov (United States)

    Zhu, J F; Zhang, X; Ling, L

    2016-01-01

    Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T16189C mutation in the D-loop and the intergenic CO2/tRNA(Lys) 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1. The well-known T16189C mutation, which is in the first hypervariable segment of the mitochondrial control region, is implicated to be associated with a wide range of clinical disorders. Moreover, the genetic polymorphism 9-bp common deletion is found to be associated with hepatocellular carcinoma in the Han Chinese population. Thus, the combination of T16189C mutation and the 9-bp deletion may have caused mitochondrial dysfunction and contributed to the development of essential hypertension in this Chinese family. PMID:27323027

  9. Association of AKT1 gene polymorphisms with sporadic Parkinson's disease in Chinese Han population.

    Science.gov (United States)

    Li, Xiao-Yuan; Teng, Ji-Jun; Liu, Yang; Wu, Yu-Bin; Zheng, Yu; Xie, An-Mu

    2016-08-26

    Genetic variants of AKT1 have been shown to influence brain function of Parkinson's disease (PD) patients, and in this paper our aim is to investigate the association between the three single-nucleotide polymorphisms (rs2498799; rs2494732; rs1130214) and PD in Han Chinese. 413 Han Chinese PD patients and 450 healthy age and gender-matched controls were genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Both the patient and control groups show similar genotype frequencies at the three loci: rs2498799, rs2494732 and rs1130214. We are able to identify a significant difference in the frequencies of genotype (p=0.019) and G allele (OR=0.764, 95% CI=0.587-0.995, p=0.045) both at rs2498799 between the patient and control groups. Furthermore, the association of subjects with GG genotypes versus those with GA+AA genotype remain significant after adjusting for age in the Han Chinese female cohort (OR=0.538, 95%CI=0.345-0.841, p=0.006), which is especially evident in the late-onset cohort (OR=0.521, 95%CI=0.309-0.877, p=0.012). In contrast, allele frequencies at rs2494732 and rs1130214 were similar between patients and controls in all subgroup analyses. These results suggest that polymorphism of AKT1 locus is associated with risk of PD and that the G allele at rs2498799 may decrease the risk of PD in the North-eastern part of Han Chinese female population. PMID:27353512

  10. Preliminary characterizations of a serum biomarker for sarcoidosis by comparative proteomic approach with tandem-mass spectrometry in ethnic Han Chinese patients

    Directory of Open Access Journals (Sweden)

    Zhang Yuan

    2013-02-01

    Full Text Available Abstract Background The diagnosis of sarcoidosis is still a significant challenge in China because of the need to exclude other diseases including granulomatous infections and malignancies that may be clinically and radiographically similar. The specific aim of the study is to search for serum protein biomarkers of sarcoidosis and to validate their clinical usefulness in differential diagnosis. Methods Serum samples were collected from patients with sarcoidosis (n = 37, and compared to those from patients with tuberculosis (n = 20, other pulmonary diseases (n = 20, and healthy volunteers (n = 20 for determination of sarcoidosis-specific or -associated protein expression profiles. The first part of this study focused on proteomic analysis of serum from patients with sarcoidosis to identify a pattern of peptides capable of differentiating the studied populations using the ClinProt profiling technology based on mass spectrometry. Enzyme Linked Immunosorbent Assay (ELISA was then used to verify corresponding elevation of the serum protein concentration of the potential biomarkers in the same patients sets. Receiver operating characteristic curve (ROC analyses was performed to determine the optimal cutoff value for diagnosis. Immunohistochemistry was carried out to further confirm the protein expression patterns of the biomarkers in lung tissue. Results An unique protein peak of M/Z 3,210 Daltons (Da was found to be differentially expressed between the sarcoidosis and control groups and was identified as the N-terminal peptide of 29 amino acids (94-122 of serum amyloid A (SAA. ELISA confirmed that the serum SAA level was significantly higher in the sarcoidosis group than that of the other 3 control groups (p p  Conclusion This is the first study to investigate serum protein markers in Chinese subjects with sarcoidosis. This study shows that the serum SAA expression profiles were different between the sarcoidosis and non

  11. Female Specific Association between NNMT Gene and Schizophrenia in a Han Chinese population

    OpenAIRE

    Wang, Guo-Xia; Zhang, Yong; Lv, Zhuang-wei; Sun, Mao; Wu, Dan; Chen, Xin-Yu; Wu, Yuan-ming

    2014-01-01

    Accumulating evidence has shown that alterations in one carbon metabolism might play an important role in the pathogenesis of schizophrenia (SZ). Nicotinamide-N-methyltransferase (NNMT) is one of the key enzymes of one-carbon metabolism. To examine whether NNMT gene was associated with SZ in Han Chinese population, we selected seven single nucleotide polymorphisms (SNPs) in NNMT gene, and investigated its association with SZ from a cohort of 42 SZ patients and 86 healthy controls by Mass-ARRA...

  12. Screening for DJ-1 gene mutation in Chinese Han patients with early-onset Parkinsonism%中国汉族人群早发性帕金森综合征DJ-1基因突变分析

    Institute of Scientific and Technical Information of China (English)

    张海南; 何丹; 张学伟; 郭纪锋; 王春喻; 聂利珞; 谭利明; 严新翔; 唐北沙

    2010-01-01

    目的 探讨中国汉族人群早发性帕金森综合征(early-onset parkinsonism,EOP)DJ-1基因突变情况.方法 应用实时荧光定量聚合酶链反应(PCR)结合DNA直接测序技术对160例EOP患者进行了DJ-1基因突变分析.结果 对DJ-1基因外显子重排突变分析发现,4例新的DJ-1基因外显子2的杂合缺失突变,突变频率2.5%(4/160);DNA直接测序方法未发现DJ-1基因的致病突变,发现了4种已报道的单核苷酸多态(SNP)和1种新的SNP,分别为:IVS4+30 T→G、IVS4+45 G→A、IVS4+46 G→A、IVS5+31 G→A和IVS6+52 C→T.结论 DJ-1基因外显子2的杂合缺失突变扩展了DJ-1基因的突变谱,可能是中国汉族人群EOP DJ-1基因突变的重要形式.%Objective To screen for DJ-1 gene mutation in Chinese Han patients with early-onset Parkinsonism(EOP).Methods Real-time PCR combining DNA direct sequencing wag used to identify mutation in DJ-1 gene in 160 Chinese Han patients with EOP.Results Four novel heterozygous deletion mutations in exon 2 were detected in this group by real-time PCR,suggesting 2.5%(4/160)mutation frequency.PCR-direct sequencing detected four single nucleotide polymorphism(SNP)and 1 novel SNP:IVS4+30 T→G,IVS4+45 G→A,IVS4+46 G→A,IVS5+31 G→A and IVS6+52 C→T.Conclusion Our findings enlarge the mutation spectrum of DJ-1 gene.Heterozygous deletion mutation in exon 2 may be an important mutation type in Chinese Han EOP patients.

  13. Single nucleotide polymorphisms of TNFAIP3 are associated with systemic lupus erythematosus in Han Chinese population.

    Science.gov (United States)

    Han, J-W; Wang, Y; Li, H-B; Alateng, C; Bai, Y-H; Sun, Z-Q; Lv, X-X; Wu, R-N

    2016-04-01

    The polymorphisms of tumour necrosis factor alpha-induced protein 3 (TNFAIP3) have been found to associate with several autoimmune diseases. This study aimed to explore the association of single nucleotide polymorphisms (SNPs) of TNFAIP3 gene with systemic lupus erythematosus (SLE) in Han Chinese. Thirty-two SNPs were genotyped in 284 patients with SLE and 630 controls using the ligation detection reaction (LDR) method. The quality control steps and statistical analyses were performed using the plink 1.07 package and haploview software. We found that 13 SNPs in TNFAIP3 showed significant association with SLE (P  0.27). All 13 SNPs showed most significant association in the dominant model. In haplotype analysis, a long risk SNP haplotype (GCCCGTGTCATGG) showed most significant association (P = 1.00 × 10(-4) ). In conclusion, our data suggest that TNFAIP3 is a susceptible gene for SLE in the Han Chinese population. PMID:26846592

  14. Variation in STAT4 is associated with systemic lupus erythematosus in Chinese Northern Han population

    Institute of Scientific and Technical Information of China (English)

    SU Yin; SONG Hui; HUANG Ci-bo; HUANG Yan-hong; WANG Tian; PAN Si-si; LI Chun; LIU Xia; ZHU Lei; ZHANG Chun-fang; LI Zhan-guo; ZHAO Yi; LIU Xu; GUO Jian-ping; JIANG Quan; LIU Xiang-yuan; ZHANG Feng-chun; ZHENG Yi; LI Xiao-xia

    2010-01-01

    Background Recent studies have identified signal transducer and activator of transcription 4 (STAT4) as a susceptibility gene for systemic lupus erythematosus (SLE) in different populations. In order to examine whether the allele distribution of the single nucleotide polymorphism (SNP) in gene STAT4 rs7574865 in patients with SLE is different from those of healthy controls in Chinese Northern Han population, we investigated whether the variants of STAT4 rs7574865 were associated with any specific clinical features of SLE.Methods We genotyped SNPs in STAT4 rs7574865 in 252 patients with SLE and 497 healthy controls. All subjects were from the Northern part of Chinese Han population. The genotypes in rs7574865 were determined by polymerase chain reaction (PCR) and consequence direct sequencing of PCR products in the DNA samples.Results There was a significant difference in distribution of the SNPs in rs7574865 between the SLE patients and healthy controls. Compared with healthy controls, there was a significant correlation between ∏ genotypes in rs7574865 and the risk of SLE when GG genotype was used as a reference genotype after adjusting for gender and age. The frequency of T allele in the SLE patients was strongly significantly higher than that of healthy controls. Furthermore, there was a significant difference in the distribution of SNP in rs7574865 between male and female SLE patients, when compared with healthy controls. The frequency of T allele in rs7574865 in male patients was significantly higher than that of male healthy controls or female patients. There was no significant correlation between the frequencies of T allele in STAT4 rs7574865 and the clinical features of SLE.Conclusions The SNP rs7574865 in STAT4 is strongly associated with risk of SLE in the Chinese Northern Han population. The ∏ genotype and T allele in STAT4 rs7574869 are susceptibility factors for SLE, especially for male SLE patients.

  15. Variants in 9p21 Predicts Severity of Coronary Artery Disease in a Chinese Han Population.

    Science.gov (United States)

    Jing, Jinjin; Su, Li; Zeng, Ying; Tang, Xiaojun; Wei, Jie; Wang, Long; Zhou, Li

    2016-09-01

    Recent genome-wide association studies identified the common genetic variants in 9p21 were associated with the coronary artery disease (CAD). However, whether this locus could predict the severity of CAD in Chinese Han population is unclear. 499 CAD patients who underwent coronary angiography (CAG) have been enrolled for this study. The single-nucleotide polymorphisms rs2383207 and rs2383206 in 9p21 were genotyped in 499 CAG cases and 1519 controls in Chinese Han population. The gene dosage of 9p21 was stratified by the degree of vascular lesions and tested for association with the severity of CAD. Rs2383207 and rs2383206 demonstrated significant associations with 2-vessel and 3-vessel disease (P = 2.0×10(-3) and 1.9×10(-4) , respectively). GG genotypes of rs2383206 occurred higher proportion of left main trunk (LM) disease (P = 6.0×10(-3) ). GG genotypes of rs2383207 occurred higher proportion of left anterior descending artery disease (LAD) and right CAD (RCA) (P = 2.7×10(-6) and 1.6×10(-4) , respectively). The risk allele G of rs2383207 was associated with severity of CAD estimated by the Gensini score (P = 3.6×10(-5) ). Rs2383207 may strongly influence the development of CAD in Chinese Han population. The gene dosage in 9p21 could predict the severity of CAD. PMID:27461153

  16. A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese.

    Science.gov (United States)

    Jiang, Teng; Tan, Lan; Chen, Qi; Tan, Meng-Shan; Zhou, Jun-Shan; Zhu, Xi-Chen; Lu, Huan; Wang, Hui-Fu; Zhang, Ying-Dong; Yu, Jin-Tai

    2016-06-01

    Two recent studies have identified that a rare coding variant (p.R47H) in exon 2 of triggering receptor expressed on myeloid cells 2 (TREM2) gene is associated with Alzheimer's disease (AD) susceptibility in Caucasians. This association was not successfully replicated in Han Chinese, where this variant was rare or even absent. Previously, we resequenced TREM2 exon 2 to investigate whether additional rare variants conferred risk to AD in our cohort. Although several new variants had been identified, none of them was significantly associated with disease susceptibility. Here, to test whether TREM2 is truly a susceptibility gene of AD in Han Chinese, we extend our previous study by sequencing the other four exons of TREM2 in 988 AD patients and 1,354 healthy controls. We provided the first evidence that a rare coding variant (p.H157Y) in TREM2 exon 3 conferred a considerable risk of AD in our cohort (Pcorrected = 0.02, odds ratio = 11.01, 95% confidence interval: 1.38-88.05). This finding indicates that rare coding variants of TREM2 may play an important role in AD in Han Chinese. PMID:27067662

  17. Evaluation of Four Genetic Variants in Han Chinese Subjects with High Myopia

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    Zimeng Ye

    2015-01-01

    Full Text Available High myopia is one of the leading causes of blindness worldwide. However, the exact etiology of high myopia remains unraveled despite numerous attempts of elucidation. Previous genome-wide association study (GWAS has revealed that four single nucleotide polymorphisms (SNPs, including rs2969180, rs1652333, rs9307551, and rs7837791, were associated with high myopia in Caucasians. The present study was conducted to investigate whether these genetic variants were associated with high myopia in Han Chinese. These four SNPs were genotyped by SNaPshot method in a Han Chinese cohort composed of 827 patients with high myopia and 988 healthy controls. Among the SNPs genotyped, only rs9307551 was found to be significantly associated with high myopia in this study. Carriers of rs9307551A allele, AA, and AC genotypes had an increased risk of high myopia (OR = 1.33, 95% CI 1.14–1.54; OR = 1.75, 95% CI 1.28–2.38; OR = 1.59, 95% CI 1.24–2.01, resp.. Interestingly, when split by gender, the association between rs9307551 and high myopia proved to be gender-specific with significance observed only in females but not males. These findings suggested that the SNP of rs9307551 showed a gender-specific association with high myopia in the Han Chinese population. In addition, LOC100506035, a lincRNA gene, might play a crucial role in the susceptibility to high myopia.

  18. Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson′s Disease in Han Chinese

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    Ya-Fang Chen

    2015-01-01

    Conclusions: Our study indicates that haplogroup B might confer a lower risk for EOPD and people younger than 50 years in Han Chinese, while haplogroup D probably lead a higher risk of PD in people younger than 50 years of age. In brief, particular Asian mtDNA haplogroups likely play a role in the pathogenesis of PD among Han Chinese.

  19. Vitamin D binding protein variants associate with asthma susceptibility in the Chinese han population

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    Zhang Youming

    2011-08-01

    Full Text Available Abstract Background Asthma is a genetically heterogeneous disease. Polymorphisms of genes encoding components of the vitamin D pathway have been reported to associate with the risk of asthma. We have previously demonstrated that vitamin D status was associated with lung function in Chinese asthma patients. In this study, we tested whether polymorphisms of genes encoding for vitamin D receptor (VDR, vitamin D 25-hydroxylase (CYP2R1 and vitamin D binding protein (GC were associated with asthma in the Chinese Han population. Methods We sequenced all 8 exons of VDR and all 5 exons of CYP2R1 in a Chinese case-control cohort of asthma consisting of 467 cases and 288 unrelated healthy controls. Two mutations were identified in these regions. These variants were specified as rs2228570 in exon 2 of VDR and rs12794714 in exon 1 of CYP2R1. We also genotyped two common polymorphisms in GC gene (rs4588 and rs7041 by a PCR-restriction fragment length polymorphism (RFLP method. We analyzed the association between these 4 polymorphisms and asthma susceptibility and asthma-related traits. Results Polymorphic markers in VDR and CYP2R1 were not associated with asthma in the Chinese Han cohort. Importantly, variants in GC gene, which give rise to the two most common electrophoretic isoforms of the vitamin D binding protein, were associated with asthma susceptibility. Compared with isoform Gc1, Gc2 was significantly associated with the risk of asthma (OR = 1.35, 95% CI = 1.01-1.78 p = 0.006. Conclusions The results provide supporting evidence for association between GC variants and asthma susceptibility in the Chinese Han population.

  20. RELN基因rs12705169位点与女性偏执型精神分裂症关联%Positive association between rs12705169 in RELN and female schizophrenia patients in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    郭伟云; 张红星; 赵晶媛; 宋学勤; 李文强; 郝伟; 吕路线

    2012-01-01

    目的 以中国汉族偏执型精神分裂症患者为研究对象,重复验证RELN(Reelin)基因单核苷酸多态性与精神分裂症的关联性.方法 以美国精神障碍诊断与统计手册第四版为诊断标准(Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition,DSM-Ⅳ)在河南省北部地区收集326 例偏执型精神分裂症患者(男女各半),在同一地域招募健康体检者334 名(男女各半) 作为对照,检测RELN 基因rs12705169、rs11764507 和rs17157643 单核苷酸多态性位点.结果 仅发现患者组和对照组之间rs12705169 位点的基因型和等位基因频率差异有统计学意义(P < 0.01).按性别分层后进一步分析,rs12705169 在女性患者和对照之间基因型和基因频率分布差异具有统计学意义(CC:OR = 0.27,95%CI = 0.18 ~ 0.45; AC:OR = 0.43,95%CI = 0.29 ~ 0.63,P < 0.01).结论 RELN 基因多态性与中国女性偏执型汉族精神分裂症存在关联,RELN 基因可能是精神分裂症的易感基因.%Objective To analyze the association between single nucleotide polymorphisms (SNPs) , in RELN gene and paranoid schizophrenia, and to determine if the RELN gene is a susceptibility gene for schizophrenia in the Han Chinese population. Methods The participants consisted of 326 patients with paranoid schizophrenia (163 males and 163 females) and 334 healthy controls (167 males and 167 females). All patients were unrelated Han Chinese born and living in the North Henan province. The concurrent diagnoses were made by psychiatrists according to the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition (DSM-IV) (1994). Healthy controls were recruited from volunteers with simple nonstructured interview performed by psychiatrists. Three SNPs were selected and genotyped. Genotyping was performed using the Real-time PCR. Genotype and allele frequencies were compared between patients and controls to assess the association to schizophrenia. Results A

  1. NO ASSOCIATION BETWEEN TUMOR NECROSIS FACTOR ALPHA AND OBSESSIVE COMPULSIVE DISORDER IN CHINESE HAN POPULATION

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Objective To investigate association between tumor necrosis factor alpha (TNF-α) and obsessive compulsive disorder (OCD) in Chinese Han population.Methods Plasma concentrations of TNF-α were measured in 61 drug-free patients who fulfilled DSM-Ⅳ criteria for OCD and 93 healthy controls.TNF-α concentrations in blood were determined by enzyme-linked immunosorbent assay (ELISA).Two polymorphisms of TNF-α gene were investigated in the same patients and healthy controls:-308 G/A and-238 G/A.The allelic and genoty...

  2. TNFR 2 M196R Polymorphism and Acne Vulgaris in Han Chinese:A Case-control Study

    Institute of Scientific and Technical Information of China (English)

    田黎明; 谢红付; 杨婷; 胡耀华; 李吉; 王玮蓁

    2010-01-01

    In this case-control study,the relationship between M196R(676 T→G) variant in exon 6 of tumor necrosis factor receptor type 2(TNFR2) gene and genetic susceptibility of acne vulgaris in Han Chinese was investigated.A total of 93 acne vulgaris patients and 90 healthy subjects from Han Chinese ethnic group were enrolled in this study.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique was adopted to analyze the single nucleotide polymorphisms(SNPs) of TNFR2 M196R gene,and to ...

  3. The association analysis polymorphism of CDKAL1 and diabetic retinopathy in Chinese Han population

    Science.gov (United States)

    Liu, Nai-Jia; Xiong, Qian; Wu, Hui-Hui; Li, Yan-Liang; Yang, Zhen; Tao, Xiao-Ming; Du, Yan-Ping; Lu, Bin; Hu, Ren-Ming; Wang, Xuan-Chun; Wen, Jie

    2016-01-01

    AIM To identify the contribution of CDKAL1 to the development of diabetic retinopathy (DR) in Chinese population. METHODS A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus (T2DM). A well-defined population with T2DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant (rs10946398) of CDKAL1. Genotyping was performed by iPLEX technology. The association between rs10946398 and T2DM was assessed by univariate and multivariate logistic regression (MLR) analysis. RESULTS There were significant differences in C allele frequencies of rs10946398 (CDKAL1) between control and DR groups (45.06% versus 55.00%, P<0.05). The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes. CONCLUSION Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.

  4. An Unknown Tradition of Han Chinese Conversions to Tibetan Buddhism:Han Chinese Incarnate Lamas and Parishioners of Tibetan Buddhist Monasteries in Amdo

    Institute of Scientific and Technical Information of China (English)

    Gray Tuttle

    2013-01-01

    AbstrActThis article examines Han Chinese who has historically practiced Tibetan Buddhism in the Qinghai-Gansu border region. The main primary sources were published in the 1990s, based on surveys by Chinese social scientists who were sent around in the 1950s to collect data on Tibetan Buddhist institutions as well as additional independent surveys from the 1980s and my own site visits in 2006. On the basis of these sources, I argue that there are at least 100,000 and probably as many as 200,000 Han Chinese on the borders of Qinghai and Gansu (part of the Amdo cultural region for Tibetans) practicing Tibetan Buddhism, following traditions that seem to have been in place for centuries. I also discuss the sixteen historic cases of Han Chinese reincarnate lamas and the over one hundred monasteries in this region affiliated with Han Chinese. Finally, I note the sectarian affiliations (jiaopai: Nyingma, Geluk, etc.) and religious practices of these Chinese communities practicing Tibetan Buddhism.

  5. Association of a miRNA-137 Polymorphism with Schizophrenia in a Southern Chinese Han Population

    Directory of Open Access Journals (Sweden)

    Guoda Ma

    2014-01-01

    Full Text Available Both genome wide association study (GWAS and biochemical studies of Caucasian populations indicate a robust association between the miR-137 genetic variant rs1625579 and schizophrenia, but inconsistent results have been reported. To assay the association between this variant and schizophrenia, we genotyped 611 schizophrenic patients from Southern Chinese Han population for the risk single nucleotide polymorphism (SNP rs1625579 using the SNaPshot technique and compared the clinical profiles of different genotypes. Additionally, a meta-analysis was performed using the combined sample groups from five case-control publications and the present study. Both the genotype and allele distributions of the rs1625579 SNP were significantly different between patients and controls (P=0.036 and 0.026, SNP. TT genotype carriers showed slightly lower Brief Assessment of Cognition in Schizophrenia- (BACS- derived working memory performance than G carriers (15.58 ± 9.56 versus 19.71 ± 8.18, P=0.045. In the meta-analysis, we observed a significant association between rs1625579 and schizophrenia under different genetic models (all P<0.05. The results of our study and meta-analysis provide convincing evidence that rs1625579 is significantly associated with schizophrenia. Furthermore, the miR-137 polymorphism influences the working memory performance of schizophrenic patients in a Chinese Han population.

  6. Genetic association between CARD9 variants and inflammatory bowel disease was not replicated in a Chinese Han population

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    Wang, Zhengting; Fan, Rong; Wang, Lei; Zhou, Jie; Zheng, Sichang; Hu, Shurong; Chen, Mengmeng; Zhang, Tianyu; Lin, Yun; Zhang, Maochen; Zhong, Jie

    2015-01-01

    Objective: In order to investigate whether CARD9 gene is associated with IBD in Chinese Han population, we replicated 2 SNPs of CARD9 which have been reported to be significantly associated with IBD. Methods: Two SNPs were genotyped using polymerase chain reaction with sequence-specific primers in 288 patients (232 CD patients, 56 UC patients) and 274 controls. Results: The frequencies and distributions of alleles and genotypes of the tested SNPs were analyzed, and no significant differences ...

  7. Association study of ankylosing spondylitis and polymorphisms in ERAP1 gene in Zhejiang Han Chinese population.

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    Liu, Yangbo; Li, Liangda; Shi, Shanfen; Chen, Xin; Gao, Jianqing; Zhu, Minyu; Yuan, Jiandong

    2016-02-01

    The susceptibility loci of ERAP1 polymorphisms have been found to be strongly associated with ankylosing spondylitis (AS). The researches in multiple ethnic cohorts suggested that the population attributable risk in ERAP1 polymorphisms is at a high significance level. This study was undertaken to estimate the prevalence and incidence of subsets of AS and investigate the specific variants of ERAP1 polymorphisms in AS susceptibility, in the Han ethnic Chinese population in Zhejiang Province. AS patients were selected, diagnosed, and confirmed by a qualified rheumatologist. The basal clinical and demographic characteristics were compared with all subjects. Genotypes for eight selected single nucleotide polymorphisms (SNPs) in ERAP1 gene (rs27038, rs27037, rs27434, rs27980, rs7711564, rs30187, rs10050860, and rs17482078) were determined by using the Sequenom MassARRAY iPLEX platform in Zhejiang Han Chinese population. Association analyses were performed on the whole genotyped data set in 707 unrelated ankylosing spondylitis cases and 837 ethnically matched controls. We observed the strongest association between AS and HLA-B27, which confers over 90 % of ankylosing spondylitis cases. Moreover, we found three loci of ERAP1 polymorphisms were at a high significance level (rs27037 P = 0.00451; rs27434 P = 0.00012; rs27980 P = 0.00682) with AS in Zhejiang population. We also confirmed polymorphism locus of ERAP1 previously reported association with AS (rs27434; P = 5.3 × 10(-12)). Our results indicated a difference in the mechanism of susceptibility loci in subsets of Zhejiang Han Chinese population and provided further evidence that rs27434 is the key polymorphism associated with AS in ERAP1 gene. PMID:26350268

  8. Association study of monoamine oxidase A/B genes and schizophrenia in Han Chinese

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    Li Sheng-Bin

    2011-10-01

    Full Text Available Abstract Background Monoamine oxidases (MAOs catalyze the metabolism of dopaminergic neurotransmitters. Polymorphisms of isoforms MAOA and MAOB have been implicated in the etiology of mental disorders such as schizophrenia. Association studies detected these polymorphisms in several populations, however the data have not been conclusive to date. Here, we investigated the association of MAOA and MAOB polymorphisms with schizophrenia in a Han Chinese population. Methods Two functional single nucleotide polymorphisms (SNPs, rs6323 of MAOA and rs1799836 of MAOB, were selected for association analysis in 537 unrelated schizophrenia patients and 536 healthy controls. Single-locus and Haplotype associations were calculated. Results No differences were found in the allelic distribution of rs6323. The G allele of rs1799836 was identified as a risk factor in the development of schizophrenia (P = 0.00001. The risk haplotype rs6323T-rs1799836G was associated with schizophrenia in female patients (P = 0.0002, but the frequency difference was not significant among male groups. Conclusions Our results suggest that MAOB is a susceptibility gene for schizophrenia. In contrast, no significant associations were observed for the MAOA functional polymorphism with schizophrenia in Han Chinese. These data support further investigation of the role of MAO genes in schizophrenia.

  9. Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson's Disease in Han Chinese

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    Ya-Fang Chen; Wan-Jin Chen; Xiao-Zhen Lin; Qi-Jie Zhang; Jiang-Ping Cai; Chia-Wei Liou; Ning Wang

    2015-01-01

    Background:Mitochondrial dysfunction is linked to the pathogenesis of Parkinson's disease (PD).However,the precise role of mitochondrial DNA (mtDNA) variations is obscure.On the other hand,mtDNA haplogroups have been inconsistently reported to modify the risk of PD among different population.Here,we try to explore the relationship between mtDNA haplogroups and sporadic PD in a Han Chinese population.Methods:Nine single-nucleotide polymorphisms,which define the major Asian mtDNA haplogroups (A,B,C,D,F,G),were detected via polymerase chain reaction-restriction fragment length polymorphism or denaturing polyacrylamide gel electrophoresis in 279 sporadic PD patients and 510 matched controls of Han population.Results:Overall,the distribution ofmtDNA haplogroups did not show any significant differences between patients and controls.However,after stratification by age at onset,the frequency of haplogroup B was significantly lower in patients with early-onset PD (EOPD) compared to the controls (odds ratio [OR] =0.225,95% confidence interval [CI]:0.082-0.619,P =0.004),while other haplogroups did not show significant differences.After stratification by age at examination,among subjects younger than 50 years of age:Haplogroup B also showed a lower frequency in PD cases (OR =0.146,95% CI:0.030-0.715,P =0.018) while haplogroup D presented a higher risk of PD (OR =3.579,95% CI:1.112-11.523,P =0.033),other haplogroups also did not show significant differences in the group.Conclusions:Our study indicates that haplogroup B might confer a lower risk for EOPD and people younger than 50 years in Han Chinese,while haplogroup D probably lead a higher risk of PD in people younger than 50 years of age.In brief,particular Asian mtDNA haplogroups likely play a role in the pathogenesis of PD among Han Chinese.

  10. Suicidal risk factors of recurrent major depression in Han Chinese women.

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    Yuzhang Zhu

    Full Text Available The relationship between suicidality and major depression is complex. Socio- demography, clinical features, comorbidity, clinical symptoms, and stressful life events are important factors influencing suicide in major depression, but these are not well defined. Thus, the aim of the present study was to assess the associations between the above-mentioned factors and suicide ideation, suicide plan, and suicide attempt in 6008 Han Chinese women with recurrent major depression (MD. Patients with any suicidality had significantly more MD symptoms, a significantly greater number of stressful life events, a positive family history of MD, a greater number of episodes, a significant experience of melancholia, and earlier age of onset. Comorbidity with dysthymia, generalized anxiety disorder (GAD, social phobia, and animal phobia was seen in suicidal patients. The present findings indicate that specific factors act to increase the likelihood of suicide in MD. Our results may help improve the clinical assessment of suicide risk in depressed patients, especially for women.

  11. C-reactive protein polymorphisms and genetic susceptibility to ischemic stroke and hemorrhagic stroke in the Chinese Han population

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    Wang, Qi; Ding, Hu; Tang, Jia-rong; Zhang, Lan; Xu, Yu-jun; Yan, Jiang-tao; Wang, Wei; Hui, Ru-tai; Wang, Cong-Yi; Wang, Dao-wen

    2009-01-01

    Aim: The inflammatory marker C-reactive protein (CRP) has been strongly correlated with the risk of cardiovascular disease. Some single-nucleotide polymorphisms (SNPs) have been reported to be associated with serum CRP levels. In this study, we assessed the genetic association between SNPs within the CRP gene and ischemic and hemorrhagic stroke in the Han Chinese population. Methods: This study comprises 564 ischemic stroke patients, 220 hemorrhagic stroke patients and 564 controls from the e...

  12. Association of TLR9 polymorphisms with sporadic Parkinson's disease in Chinese Han population.

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    Zhu, Konghua; Teng, Jijun; Zhao, Jing; Liu, Hongxin; Xie, Anmu

    2016-07-01

    Previous studies have acknowledged that inflammatory reaction has implicated in Parkinson's disease (PD) pathogenesis nowadays. Toll-like receptors (TLRs), as key players in the inflammatory reaction, play a pivotal role in the PD pathogenesis and accumulating evidences have shown that TLRs are increased in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model of PD. Therefore, the present study aimed to identify the role of the polymorphisms of rs187084 and rs352140 in TLR9 gene with PD. The genotypes were detected by polymerase chain reaction and restriction fragment length polymorphism analysis in 380 PD patients and 380 healthy matched individuals in Chinese Han population. For rs352140, our data revealed a significant difference in allele distribution in female PD group and its healthy matched control (P = 0.040). Moreover, rs352140 T allele carriers of female group were associated with a reduced risk of PD (TT + TC vs. CC, P = 0.018). However, no significant differences in genotype and allele distribution were found between the age and gender subgroups for rs187084. Therefore, our studies indicate that the rs352140 gene polymorphism may be associated with the susceptibility of female PD in Chinese Han population. PMID:26000920

  13. TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population.

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    Qian, Yajing; Li, Dandan; Ma, Lan; Zhang, Hongchuang; Gong, Miao; Li, Sheng; Yuan, Hua; Zhang, Weibing; Ma, Junqing; Jiang, Hongbing; Pan, Yongchu; Wang, Lin

    2016-05-01

    Located at 15q22 a susceptibility region for nonsyndromic orofacial clefts (NSOC), TPM1 encodes a group of highly conserved ubiquitous actin-binding proteins involved in the muscle contraction and cytoskeleton organization. Considering the multiple functions of TPM1 gene, we investigated the potential relationship between TPM1 polymorphisms and risk of NSOC in a Chinese Han population. Four tag single nucleotide polymorphisms (tSNPs) of TPM1 (rs11071720, rs3803499, rs12148828, and rs1972041) were selected to conduct a case-control study with 673 NSOC patients and 705 unrelated healthy controls from a Chinese Han population. The SNPs were genotyped by the IPLEX Sequenom MassARRAY platform. SNP rs1972041GA showed a decreased risk of NSOC in heterozygotes (P = 0.038, OR = 0.77, 95%CI = [0.61, 0.99]). Further stratified analysis revealed an enhanced protective effect of the minor allele G at rs197204 on lip with cleft palate (CLP) and cleft lip with or without cleft palate (CL/P) groups under a codominant or dominant model. No association was observed between the remaining three markers (rs11071720, rs3803499, and rs12148828) and NSOC as well as its subgroups. TPM1 polymorphisms might contribute to the etiology of NSOC, and more emphasis should be placed on TPM1 during craniofacial development. © 2016 Wiley Periodicals, Inc. PMID:26792422

  14. A case-control association study of NRXN1 polymorphisms with schizophrenia in Chinese Han population

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    Lu Tianlan

    2011-04-01

    Full Text Available Abstract Background Recent research has implicated that mutations in the neurexin-1 (NRXN1 gene on chromosome 2p16.3 might play a role in schizophrenia, autism, and nicotine dependence. In order to explore the association of NRXN1 polymorphisms with schizophrenia, we made a case-control association study in Chinese Han population. Methods We examined six tag single nucleotide polymorphisms (SNPs spanning 116.7 kb of NRXN1 in 768 schizophrenic patients and 738 healthy control subjects. The association of NRXN1 polymorphisms with schizophrenia and the age-at-onset of this disease were explored. Results Our results showed that four SNPs of NRXN1 gene were significantly associated with schizophrenia (rs10490168: G > A, p = 0.017; rs2024513: A > G, p = 0.006; rs13382584: T > C, p = 0.009; and rs1558852: G > A, p = 0.031. Furthermore, the association of SNP rs2024513 with schizophrenia remained significance after the Bonferroni correction. Haplotypes consisting of above six SNPs also showed significantly associated with schizophrenia (global chi-square = 14.725, p = 0.022. A protective haplotype AGTGCA remained associated with schizophrenia, even after 10,000 permutation tests (empirical p-value = 0.043. However, we did not find any association with age-at-onset of schizophrenia with NRXN1 polymorphisms. Conclusions Our findings suggest that NRXN1 might represent a major susceptibility gene for schizophrenia in Chinese Han population.

  15. A study of single nucleotide polymorphisms of GRIN2B in schizophrenia from Chinese Han population.

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    Guo, Zhenming; Niu, Weibo; Bi, Yan; Zhang, Rui; Ren, Decheng; Hu, Jiaxin; Huang, Xiaoye; Wu, Xi; Cao, Yanfei; Yang, Fengping; Wang, Lu; Li, Weidong; Li, Xingwang; Xu, Yifeng; He, Lin; Yu, Tao; He, Guang

    2016-09-01

    Schizophrenia is a severe and complex mental disorder with high heritability. There is evidence that mutations in the gene of Nmethyl-d-aspartate-type glutamate receptors (NMDAR) are associated with schizophrenia. GRIN2B encodes a subunit of NMDARs, and has been identified as a candidate gene for many psychiatric disorders, especially schizophrenia. In this study, we investigated whether single nucleotide polymorphisms (SNPs) in GRIN2B were associated with schizophrenia. Four SNPs (rs890, rs1806191, rs219872, rs172677) were genotyped in 752 schizophrenic patients and 846 healthy controls of the Chinese Han population. Our results indicate differences in allele and genotype frequencies of rs890 between case and control. These results were assessed by adapting different genetic models (codominant, dominant, recessive, overdominant, log-additive models). After controlling for confounding factors including sex and age, rs890 remained associated with schizophrenia. In addition, rs890 and rs1806191 were found to form a haplotype associated with schizophrenia. In summary, our results indicate that the GRIN2B SNP rs890 might be associated with schizophrenia in the Chinese Han population. PMID:27453061

  16. A neuropeptide Y variant (rs16139 associated with major depressive disorder in replicate samples from Chinese Han population.

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    Yongjun Wang

    Full Text Available OBJECTIVE: This study aimed to investigate the single nucleotide polymorphisms (SNPs of neuropeptide Y (NPY and major depressive disorder (MDD in Chinese Han population. DESIGN: Prospective and randomized studies were carried out. PATIENTS: A total of 700 patients (324 male and 376 female; mean age = 40±14.9 years with depression who met the diagnostic criteria of Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV and 673 healthy controls (313 male and 360 female; mean age = 41.9±17.2 years were used to investigate the relationship between SNPs of NPY and the pathogenesis of MDD. A total of 417 patients (195 male and 202 female; mean age = 36±14.2 years diagnosed with MDD and 314 healthy controls (153 male and 161 female; mean age = 37.9±14.2 years from Chinese Han population were used to verify the relationship between SNPs of NPY and the pathogenesis of MDD. INTERVENTION AND OUTCOME: Ligase detection reactions were performed to detect the SNP sites of NPY. A series of statistical methods was carried out to investigate the correlation between the NPY gene SNP and MDD. RESULTS: Statistical analysis showed a significant correlation between the SNP sites rs16139 in NPY and the morbidity of depression. Patients with MDD have a lower frequency of A-allele in rs16139 in replicate samples from Chinese Han population. However, the frequency varied between male and female patients. CONCLUSION: The gene polymorphism loci rs16139 was closely related to MDD in Chinese Han population.

  17. Analysis of the genotype of diacylglycerol kinase delta single-nucleotide polymorphisms in Parkinson disease in the Han Chinese population

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    Wei Song

    2012-01-01

    Full Text Available Numerous Single-Nucleotide Polymorphisms (SNPs of the Diacylglycerol Kinase Delta (DGKD isoform 1 gene have been associated with Parkinson Disease (PD in the genome-wide association studies of Caucasian population. This association has not been proven in the Han Chinese PD patients. This study included 376 unrelated Han Chinese PD patients from West China and 273 unrelated healthy controls from the same region. Five SNPs (rs2971859, rs1550532, rs2305539, rs2034762, and rs2242102 were genotyped using the Sequenom iPLEX Assay technology. No significant differences were observed in genotype frequencies and in the Minor Allele Frequency (MAF in the five SNPs between PD patients and controls, early-onset PD and controls, late-onset PD and controls, and between early-onset and late-onset PD patients. The present study is the first to report on the lack of association of DGKD SNPs with PD in the Han Chinese population. More related studies involving larger numbers of participants are necessary to confirm the present finding.

  18. Comprehensive cortical thickness and surface area comparison between young Uyghur and Han Chinese cohorts.

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    Lu, Jun; Jiang, Chunhui; Wang, Jian; Jia, Wenxiao

    2016-10-01

    We hypothesized that the brain structural differences as discovered previously between Westerners and East Asians could also be revealed between Han Chinese and Uyghur, which were genetically related ethnic groups with distinct languages. We conducted a brain MRI structural comparison in terms of cortical thickness and surface area between 15 healthy young Uyghurs and 15 age-matched Han Chinese. Widespread regions with significantly greater cortical thickness were found in the Uyghurs, and their distribution showed strong resemblance to previous "Westerners vs. Asians" findings. While surface area analysis displayed less widespread brain differences. Notably, our detected regions with structural differences contained a large part of language-specific or at least closely language-related brain areas, which may partly be attributable to the brain plasticity respectively driven by Uyghur and Mandarin. Our findings will help to better understand the neurobiological basis of interethnic differences along with the language processing mechanisms of Han Chinese and Uyghur. PMID:27067474

  19. Role of IL-17 Variants in Preeclampsia in Chinese Han Women.

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    Haiyan Wang

    Full Text Available Previous studies have suggested an important role for IL-17, mainly secreted by Th17 cells, in the development of systemic inflammation in preeclampsia (PE. This study therefore investigated the association between genetic variants in IL-17A, IL-17F, and IL-17RA and susceptibility to PE in Chinese Han women. We recruited 1,031 PE patients and 1,298 controls of later pregnant women, and used TaqMan allelic discrimination real-time PCR to genotype the polymorphisms of IL17A rs2275913, IL-17F rs763780, and IL-17RA rs4819554. No significant differences in genotypic or allelic frequencies were found at all three polymorphic sites between PE patients and controls (rs2275913: genotype χ2 = 0.218, p = 0.897 and allele χ2 = 0.157, p = 0.692, OR = 1.024, 95%CI 0.911-1.152; rs763780: genotype χ2 = 1.948, p = 0.377 and allele χ2 = 1.242, p = 0.265, OR = 0.897, 95%CI 0.741-1.086; rs4819554: genotype χ2 = 0.633, p = 0.729 and allele χ2 = 0.115, p = 0.735, OR = 1.020, 95%CI 0.908-1.146. There were also no significant differences in genetic distributions between mild/severe PE or early/late-onset PE and control subgroups. Our data indicate that the genetic variants of rs2275913 in IL-17A, rs763780 in IL-17F, and rs4819554 in IL-17RA may not play a role in the pathogenesis of PE in Chinese Han women. However, these findings should be confirmed in other ethnic populations.

  20. KALRN Rare and Common Variants and Susceptibility to Ischemic Stroke in Chinese Han Population.

    Science.gov (United States)

    Dang, Meizheng; Wang, Zhenzhen; Zhang, Ruyou; Li, Xiaoying; Peng, Yanqing; Han, Xuesong; Sun, Litao; Tian, Jiawei

    2015-09-01

    Stroke is the second most common cause of mortality worldwide, and it is a major cause of physical disability. Several genome-wide association studies have yielded numerous common variants which increase the risk of ischemic stroke, including the Kalirin-coding gene, KALRN. KALRN strongly associates with early-onset coronary artery disease and atherosclerosis and plays an important role in stroke in the European population. In this study, we analyzed four KALRN gene SNPs in 503 ischemic stroke patients and 493 control subjects, separating the patients into separate research groups based on comorbidity with hypertension or diabetes and stroke type (atherosis or lacunar and combination type). We found a rare variant of KALRN, rs11712619, that associated with lacunar stroke in the northern Chinese Han population with an average-risk allele frequency 0.009 (OR 2.95, 95 % CI 1.08-8.01, p = 0.028). However, after adjusting for relevant factors, including sex, age, body mass index, dyslipidemia, alcohol consumption, and smoking, this association was not evident. Additionally, the KALRN variant rs6438833 was associated with ischemic stroke, ischemic stroke comorbid with diabetes, and lacunar stroke after adjusting for the relevant factors (p = 0.046, p = 0.019 and p = 0.046, respectively), which remained significant after 10,000 permutation procedure test (p' = 0.047, p' = 0.018 and p' = 0.048, respectively). The association of these rare and common variants of KALRN with ischemic stroke in northern Chinese Han population offers insight for potential therapeutic research. PMID:25917671

  1. Common variant rs7579169 is associated with preeclampsia in Han Chinese women.

    Science.gov (United States)

    Guo, L F; Wang, Z H; Wang, Y F

    2016-01-01

    As a heterogeneous group of disorders in pregnancy, many genetic factors are involved in the development of preeclampsia. The single nucleotide polymorphism (SNP) rs7579169, located on chromosome 2q14.2, has been shown to be associated with pregnancy-induced hypertension in Europeans. In this study, we examined whether the SNP rs7579169 is associated with the susceptibility to preeclampsia through a case-control research model in Han Chinese women. Genotypes of 145 patients with preeclampsia and 150 healthy pregnant subjects were identified by direct sequencing. The correlation between the rs7579169 genotype and the susceptibility to preeclampsia was evaluated using an unconditional logistic regression model. Although there were no differences of having the rs7579169 SNP between early onset and late onset preeclampsia, patients carrying the CT or TT genotype were more likely to develop preeclampsia than those carrying the CC genotype (CT vs CC: OR = 1.76, 95%CI = 1.07-2.87, P Chinese women. PMID:27173354

  2. Association of COL4A1 gene polymorphisms with cerebral palsy in a Chinese Han population.

    Science.gov (United States)

    Bi, D; Wang, H; Shang, Q; Xu, Y; Wang, F; Chen, M; Ma, C; Sun, Y; Zhao, X; Gao, C; Wang, L; Zhu, C; Xing, Q

    2016-08-01

    The basement membrane (BM) is an extracellular matrix associated with overlying cells and is important for proper tissue development, stability, and physiology. COL4A1 is the most abundant component of type IV collagen in the BM, and COL4A1 variants can present with variable phenotypes that might be related to cerebral palsy (CP). We postulated, therefore, that variations in the COL4A1 gene might play an important role in the etiology of CP. In this study, six single nucleotide polymorphisms (SNPs) in the COL4A1 gene were genotyped among 351 CP patients and 220 healthy controls from the Chinese Han population. Significant association was found for an association between CP and rs1961495 (allele: p = 0.008, odds ratio (OR) = 1.387, 95% confidence interval (CI) = 1.088-1.767) and rs1411040 (allele: p = 0.009, OR = 1.746, 95% CI = 1.148-2.656) SNPs of the COL4A1 gene. Multifactor dimensionality reduction analysis suggested that these SNPs had interactive effects on the risk of CP. This study is the first attempt to investigate the contribution of polymorphisms in the COL4A1 gene to the susceptibility of CP in a Chinese Han population. This study shows an association of the COL4A1 gene with CP and suggests a potential role of COL4A1 in the pathogenesis of CP. PMID:26748532

  3. Was acupuncture developed by Han Dynasty Chinese anatomists?

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    Shaw, Vivien; Mclennan, Amy K

    2016-05-01

    Anatomical dissection has begun to reveal striking similarities between gross anatomical structures and the system of nomenclature used in traditional Chinese acupuncture. This paper argues that acupuncture point nomenclature is rooted in systematic anatomical investigation of cadaveric specimens, and that acupuncture points and meridians are purposefully named to reflect observable physical form. Two types of evidence are compared: observations of physical structures based on anatomical dissection, and translation and analysis of original Chinese texts. Evidence is contextualized through in-depth practical understanding of acupuncture. Points designated as tian (heavenly/superior), xia (below/inferior), liao (bone-hole), fei (flying), wei (bend), and xi (mountain stream/ravine) are investigated. These acupuncture point names: (a) specify position; (b) reflect function and/or form; (c) indicate homologous structures; (d) mark unusual structures; and/or (e) describe the physical appearance of a deep (dissected) structure by likening it to a homologous everyday object. Results raise intriguing possibilities for developing an understanding of acupuncture points and meridians firmly based in the material and functional anatomy of the human body. Such an understanding has the potential to open new fields of thought about functional anatomy. It also has implications for future investigations into the mechanisms of acupuncture, and gives some insights into the possible origins of this iconic area of Chinese medicine. Anat Rec, 299:643-659, 2016. © 2016 Wiley Periodicals, Inc. PMID:26861920

  4. The relationship of haplotype in lactotransferrin and its expression levels in Chinese Han ovarian cancer

    Institute of Scientific and Technical Information of China (English)

    Lanqin Cao; Yanhong Zhou; Xin Li; Hong Yi

    2011-01-01

    Chromosomal DNA sequence polymorphisms may contribute to individuality,confer risk for diseases,and most commonly are used as genetic markers in association study.The iron-binding protein lactoferrin inhibits bacterial growth by sequestering essential iron and also exhibits antitumor,anti-inflammatory,and immunoregulatory activities.The gene coding for lactotransferrin (LTF) is polymorphic,with the occurrence of several common alleles in the general population.This genetically determined variation can affect LTF functions.In this study,we determined the distribution of LTF gene polymorphisms (rs1126477,rs1126478,rs2073495,and rs9110) in the Chinese Han population and investigated whether these polymorphisms were associated with increased risk of ovarian carcinoma in the Chinese.It was found that the rs1126477 was correlated significantly with ovarian cancer.The frequency of A allele of rs1126477 was significantly higher in 700 ovarian cancer patients compared with that in the control group of 700 cases (P < 0.01,x2=6.79).The frequency of AA genotype was significantly higher in ovarian cancer patients compared with that in the control group (P < 0.05,x2=6.49).AA genotype is the risk factor of ovarian cancer.The odds ratio (OR) was 2.24 and the 95% confidence interval (CI) was 1.08-4.59,respectively.The ‘A-G-C-C' haplotype constructed with rs1126477,rs1126478,rs2073495,and rs9110 was the risk factor to be ovarian cancer.The expression of LTF gene was lower in individuals with ‘A-G-C-C' haplotype compared with that in individuals without ‘A-G-C-C' haplotype.These findings suggested that rs1126477 could play important roles in ovarian carcinoma physiological processes in the Chinese.

  5. Correlation between Toll-like receptor 4 single nucleotide polymorphism and sepsis in Chinese patients of Han nationality%Toll-样受体4基因单核苷酸多态性与中国汉族患者脓毒症的相关性

    Institute of Scientific and Technical Information of China (English)

    焦静; 朱兰芳; 罗哲

    2014-01-01

    Objective To investigate the correlation between Toll-like receptor 4 (TLR4) single nucleotide polymorphism (SNP) and the risk,severity and prognosis of sepsis in Chinese patients of Han nationality.Methods One hundred and three Han nationality patients who developed sepsis after surgery,aged 18-80 years,were enrolled in the sepsis group,and 114 Han nationality patients without sepsis after surgery,aged 18-80 years,were enrolled in the control group.Venous blood samples were taken from the peripheral vein and three SNPs in TLR4 gene,rs10759932,rs11536889 and rs2737190,were genotyped by matrix-assisted laser desorption ionization time of flight mass spectrometry analysis.Correction for Logistic regression analysis was made to eliminate the effects of sex,age,underlying diseases and operation methods.The correlation between genotypes of SNP and occurrence of sepsis,organ dysfunction,septic shock and death from sepsis was analyzed.The odds ratio (OR) and 95% confidence interval (Cl) were calculated.Results Compared with the control group,there was a significant difference in genotype frequency ratios of rs10759932 (P < 0.05),but there was no significant difference in genotype frequency ratios of the other two SNPs in sepsis group (P > 0.05).There was correlation between rs10759932 and the occurrence of sepsis,and the variant allele (CT + CC genotypes) of rs10759932 increased the risk of sepsis (OR =1.86,95% Cl 1.17-2.97,P < 0.05).There was no correlation between the three SNPs and sepsis-related organ dysfunction,septic shock and death from sepsis (P > 0.05).Conclusion There is correlation between the variant allele of TLR4 rs10759932 and the increase in risk of sepsis after surgery in Chinese patients of Han nationality.

  6. Validating GWAS-Identified Risk Loci for Alzheimer's Disease in Han Chinese Populations.

    Science.gov (United States)

    Wang, Hui-Zhen; Bi, Rui; Hu, Qiu-Xiang; Xiang, Qun; Zhang, Chen; Zhang, Deng-Feng; Zhang, Wen; Ma, Xiaohong; Guo, Wanjun; Deng, Wei; Zhao, Liansheng; Ni, Peiyan; Li, Mingli; Fang, Yiru; Li, Tao; Yao, Yong-Gang

    2016-01-01

    In recent years, genome-wide association studies (GWASs) have identified many novel susceptible genes/loci for Alzheimer's disease (AD). However, most of these studies were conducted in European and populations of European origin, and limited studies have been performed in Han Chinese. In this study, we genotyped 14 single-nucleotide polymorphisms (SNPs) in eight GWAS-reported AD risk genes in 1509 individuals comprising two independent Han Chinese case-control cohorts. Four SNPs (rs11234495, rs592297, rs676733, and rs3851179) in the PICALM gene were significantly associated with late-onset (LO)-AD in populations from Southwest China, whereas SNPs rs744373 (BIN1), rs9331942 (CLU), and rs670139 (MS4A4E) were linked to LO-AD in populations from East China. In the combined Han Chinese population, positive associations were observed between PICALM, CLU, MS4A4E genes, and LO-AD. The association between rs3851179 (PICALM), rs744373 (BIN1), and AD was further confirmed by meta-analysis of Asian populations. Our study verified the association between PICALM, BIN1, CLU, and MS4A4E variants and AD susceptibility in Han Chinese populations. We also discerned some regional differences concerning AD susceptibility SNPs. PMID:25452228

  7. Association of HLA-B27 and ERAP1 with ankylosing spondylitis susceptibility in Beijing Han Chinese.

    Science.gov (United States)

    Zhang, Z; Dai, D; Yu, K; Yuan, F; Jin, J; Ding, L; Hao, Y; Liang, F; Liu, N; Zhao, X; Long, J; Xi, Y; Sun, Y-Y

    2014-05-01

    This study investigated the genetic polymorphisms of HLA-B27, together with polymorphisms on endoplasmic reticulum aminopeptidase 1 (ERAP1), and susceptibility for ankylosing spondylitis (AS) in the Beijing Han population. A case-control study was carried out for 602 AS patient samples and 619 matched controls of Han Chinese. HLA-B27 genotyping was performed by polymerase chain reaction-sequence specific primers (PCR-SSP), and four ERAP1 SNPs (rs27037, rs27980, rs27582, and rs27434) were selected and genotyped on the Sequenom iPlex platform (Sequenom, San Diego, CA). Association analysis was performed using the likelihood ratio χ(2) test. This study identified four HLA-B27 alleles in Beijing Han AS patients, B*27:02, B*27:04, B*27:05, and B*27:07, of which B*27:05 was the most significant geographical different subtype among AS patients in Chinese. Our results confirmed that HLA-B27 was strongly associated with AS (P=1.9 × 10(-150) ), and the most strongly associated alleles were B*27:04, B*27:05, and B*27:02. Our study also confirmed a weak association between ERAP1 (rs27434) and AS. We also observed that for HLA-B*27:02 and HLA-B*27:04 positive AS patients, rs27434 and rs27582 were associated with AS. In contrast, for HLA-B27-negative and HLA-B*27:05-positive AS patients, this association was not observed. This is the first study to show that both B27 and ERAP1 are AS genetic susceptibility genes in Beijing Han. Interactions between ERAP1 and HLA-B*27:02 and B*27:04 may play an important role in the AS pathogenesis. PMID:24666027

  8. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

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    Xiaofei Xiu

    2014-01-01

    Full Text Available Alport syndrome (AS is a monogenic disease of the basement membrane (BM, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3, the collagen type IV alpha-4 gene (COL4A4, and the collagen type IV alpha-5 gene (COL4A5, which encodes type IV collagen α3, α4, and α5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36 in the COL4A5 gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typical COL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD. Our discovery broadens the mutation spectrum in the COL4A5 gene associated with AS, which may also shed new light on genetic counseling for AS.

  9. Association analysis of monoamine oxidase A gene and bipolar affective disorder in Han Chinese

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    Lai Te-Jen

    2008-05-01

    Full Text Available Abstract Background Monoamine oxidase A (MAOA is a mitochondrial enzyme involved in degrading several different biological amines, including serotonin. Although several pieces of evidence suggested that MAOA is important in the etiology of bipolar affective disorder (BPD, associations for markers of the MAOA gene with BPD were not conclusive and the association has not been investigated in Taiwanese population. This study was designed to illustrate the role of MAOA in the etiology of BPD in Han Chinese. Methods Two markers, a dinucleotide polymorphism in exon 2 and a functional uVNTR on the promoter of the MAOA gene, were used to study the genetic association in 108 unrelated patients with BPD and 103 healthy controls. Allelic distributions of two polymorphisms were analyzed and, caused the MAOA located at X chromosome, haplotype association was performed using haplotype unambiguously assigned in male participants. Results While no difference in allelic distributions of two MAOA polymorphisms was found, the risk haplotype 114S was associated with BPD in male patients (P = 0.03. The significance, however, was not found in female patients with 114S haplotype. Conclusion Results from this study suggest that MAOA may have a gender-specific and small effect on the etiology of BPD in Taiwan. Due to the limited sample size, results from this study need to be confirmed in replicates.

  10. Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population

    International Nuclear Information System (INIS)

    The host immunogenetic background plays an important role in the development of breast cancer. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is a molecule expressed predominantly on activated T cells and is important during the down-regulation of T-cell activation. To evaluate the potential influences of CTLA-4 gene polymorphisms on breast cancer risk, a case-control study was conducted in Han women of Northeast China. We genotyped CTLA-4 variants (-1661 G/A, -658 T/C, -318 T/C, +49 G/A and CT60 G/A) to tag all common haplotypes (≥ 1% frequency) in 117 Chinese breast cancer cases and 148 age/sex matched healthy individuals. Genotypes were determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Data was analyzed using the Chi-square test and Haploview software. The frequency of CTLA-4 -1661G allele, -318T allele and CT60G allele carriers was significantly higher in patients than in controls (P = 0.0057, OR 1.91, 95% CI 1.21–3.02; P = 0.0031, OR 2.39, 95% CI 1.34–4.27; P = 0.023, OR 1.52, 95% CI 1.06–2.17, respectively). The -658T allele carrier frequency was significantly lower than in controls (P = 0.0000082, OR 0.17, 95% CI 0.08–0.37), whereas the +49A allele was significantly associated with tumor size in patients (P = 0.0033). Two common CTLA-4 haplotypes, ATCGA and ATCAG, were higher in healthy controls than patients (P = 0.0026, OR 0.17, 95% CI 0.05–0.54; P = 0.034, OR 0.12, 95% CI 0.02–0.92, respectively). A strong association was observed between tumor size and the ACCAA, ACCAG and ACCGA haplotypes (P = 0.0032, P = 0.0000031 and P = 0.017). These results suggest that polymorphisms of the CTLA-4 gene may modify individual susceptibility to and progression of breast cancer in Chinese Han women

  11. Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women

    OpenAIRE

    Tang, Youzhou; Wang, Li; Zhu, Min; Yang, Ming; Zhong, Kuangbiao; Du, Qing; Zhang, Hao; Gui, Ming

    2015-01-01

    To investigate whether mitochondrial DNA haplogroups M or N are related to occurrence or manifestations of systemic lupus erythematosus (SLE), we collected M/N haplogrouping and clinical characteristics from 868 Han Chinese women with SLE, as well as for 870 age-matched healthy Han Chinese control women. M/N haplogroups were determined in all subjects using allele-specific amplification. The frequency of M haplogroup in all patients was 429 (49.4%) and the frequency of N haplogroup, 439 (50.6...

  12. Adolescent self-concept among Han, Mongolian, and Korean Chinese.

    Science.gov (United States)

    Sharpes, D K; Wang, X

    1997-01-01

    Studies of self-concept have suffered from a lack of both a solid theoretical base and a clear definition of the term. It is not clear whether self-concept is a construct from the cognitive sciences, an active part of personality or of the ego and unconscious, or a physiological process as indicated from neurological research. Nor is it clear whether the psychological construct of self is related to other concepts, such as personal identity, self-esteem, and the ego, as sometimes these refer to the whole person or a structure or element within a person. What is evident is that the majority of researchers continue to assume that self-concept, however defined in theory, is primarily governed by environmental determinants despite abundant evidence from the neurosciences of the strong influence of its genetic heritability. This study assumed a genetic hypothesis, that self-concept is developmental and that adolescent perception of personal, relational, and academic self-identity occurs uniformly across cultures and environmental circumstances. Data were collected using a validated survey instrument, translated into Chinese, from majority and minority adolescents in the People's Republic of China. High similarity was found between the majority and minority adolescents, suggesting developmental propensities in the formation of self-concept. PMID:9426813

  13. Contribution of the Akt2 gene to type 2 diabetes in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    SUN Xiu-qin; LUO Ying-ying; AN Ling-wang; CHU Lin; HUO Li-li; HAN Xue-yao; ZHOU Xiang-hai; REN Qian; JI Li-nong

    2011-01-01

    Background The Akt2 protein kinase is thought to be a key mediator of the insulin signal transduction process. Akt2 is suggested to play a role in glucose metabolism and the development or maintenance of proper adipose tissue and islet mass. In order to determine whether the Akt2 gene plays a role in the pathogenesis of type 2 diabetes characterized by insulin resistance, and to further identify if variations in this gene have a relationship with type 2 diabetes, we sequenced the entire coding region and splice junctions of Akt2 and made a further case-control study to explore the association between single-nucleotide polymorphisms (SNPs) in this gene and type 2 diabetes in the Chinese Han population.Methods We selected 23 probands with a type 2 diabetic pedigree whose family members' average onset age was within 25 to 45 years old. The body mass index of all the participants was lower than 28 kg/m2 and all of them were insulin-resistant (the fasting insulin level >100 pmol/L or 16 μlU/ml). The entire coding region and splice junctions of Akt2 were directly sequenced in these 23 probands. SNPs with a frequency of minor allele over 20 percent were selected to be further studied in a case-control study. We chose 743 non-diabetic subjects as the control group and 742 type 2 diabetic patients as the case group. All these subjects were genotyped. A Snapshot Technology Platform (Applied Biosystems) was used for genotyping.Results The Akt2 genes from all 23 subjects were successfully sequenced. We did not identify any mutation in the type 2 diabetic pedigree. Two SNPs were identified, 13010323T>C and 13007939G>T. 13010323T>C was in intron 9, which was the location of rs2304188 reported in Genbank. Its minor allele frequency was 13.04%. 13007939G>T was in the 3'-untranslated region (UTR) of exon 14, which was the location of rs2304186 reported in Genbank. Its minor allele frequency was 34.78%. The allele frequency of rs2304188 and rs2304186 were consistent with

  14. Tumor Necrosis Factor-alpha Induced Protein 3 Interacting Protein 1 Gene Polymorphisms and Pustular Psoriasis in Chinese Han Population

    Science.gov (United States)

    Han, Jian-Wen; Wang, Yong; Alateng, Chulu; Li, Hong-Bin; Bai, Yun-Hua; Lyu, Xin-Xiang; Wu, Rina

    2016-01-01

    Background: Psoriasis is a common immune-mediated inflammatory dermatosis. Generalized pustular psoriasis (GPP) is the severe and rare type of psoriasis. The association between tumor necrosis factor-alpha induced protein 3 interacting protein 1 (TNIP1) gene and psoriasis was confirmed in people with multiple ethnicities. This study was to investigate the association between TNIP1 gene polymorphisms and pustular psoriasis in Chinese Han population. Methods: Seventy-three patients with GPP, 67 patients with palmoplantar pustulosis (PPP), and 476 healthy controls were collected from Chinese Han population. Six single nucleotide polymorphisms (SNPs) of the TNIP1 gene, namely rs3805435, rs3792798, rs3792797, rs869976, rs17728338, and rs999011 were genotyped by using polymerase chain reaction-ligase detection reaction. Statistical analyses were performed using the PLINK 1.07 package. Allele frequencies and genotyping frequencies for six SNPs were compared by using Chi-square test, odd ratio (OR) (including 95% confidence interval) were calculated. The haplotype analysis was conducted by Haploview software. Results: The frequencies of alleles of five SNPs were significantly different between the GPP group and the control group (P ≤ 7.22 × 10−3), especially in the GPP patients without psoriasis vulgaris (PsV). In the haplotype analysis, the most significantly different haplotype was H4: ACGAAC, with 13.1% frequency in the GPP group but only 3.4% in the control group (OR = 4.16, P = 4.459 × 10−7). However, no significant difference in the allele frequencies was found between the PPP group and control group for each of the six SNPs (P > 0.05). Conclusions: Polymorphisms in TNIP1 are associated with GPP in Chinese Han population. However, no association with PPP was found. These findings suggest that TNIP1 might be a susceptibility gene for GPP. PMID:27364786

  15. Genetic variants identified by GWAS was associated with colorectal cancer in the Han Chinese population

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    Hui-Ping Qiao

    2015-01-01

    Full Text Available Aim of Study: Colorectal cancer (CRC, now the third most common cancer across the world, is known to aggregate in families. Recently, genome-wide association studies have identified two single nucleotide polymorphisms (SNP associated with CRC in Caucasians. Materials and Methods: To validate whether the same variations conferred risk to CRC in the Han Chinese population, we genotyped 760 individuals (380 controls and 380 cases samples recruited from the Han Chinese origin. Results: We found rs11987193 in 8p12 (P = 0.0472 after correction, OR = 0.751 was significantly associated with CRC but rs12080929 in 1p33 (P = 0.0650 after correction, OR = 0.750 was not. Conclusion: Our findings supported that rs11987193 is a susceptibility locus for CRC, and gene DUSP4 was possible to play a role in the pathology of CRC.

  16. Genetic polymorphism of 17 Y-STR loci in Han Chinese living in Lanzhou.

    Science.gov (United States)

    Sun, Hong-bing; Yang, Xin; Ha, Fei; Zhang, Zi-long

    2013-12-01

    The genetic polymorphism across 17 Y-STR loci in a population of Han Chinese in Lanzhou was investigated. Haplotypes and allele frequencies for the 17 Y-chromosomal STRs loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448 were determined in 500 healthy unrelated autochthonous males from Lanzhou. The results showed that no shared haplotypes were observed. Gene diversity values ranged from 0.3987 (DYS391) to 0.9740 (DYS385a,b). It was concluded that these loci will be very useful for human identification in forensic cases and paternity tests within the Han Chinese population inhabiting Lanzhou. PMID:24337856

  17. Y-chromosome haplotype distribution in Han Chinese populations and modern human origin in East Asians

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    We investigated the distribution of Y-chromosome haplotype using 19 Y-SNPs in Han Chinese populations from 22 provinces of China. Our data indicate distinctive patterns of Y chromosome between southern and northern Han Chinese populations. The southern populations are much more polymorphic than northern populations. The latter has only a subset of the southern haplotypes. This result confirms the genetic difference observed between southern and northern ethnic populations in East Asia. It supports the hypothesis that the first settlement of modern hu-mans of African origin occurred in the southern part of East Asia during the last Ice Age, and a northward migration led to the peopling of northern China.

  18. Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease

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    Yu Chaowen

    2011-12-01

    Full Text Available Abstract Background Autosomal dominant polycystic kidney disease (ADPKD is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16p13.3 and PKD2 (4q21. Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of PKD1 gene and the high diversity of the mutations. This study is the first systematic ADPKD mutation analysis of both PKD1 and PKD2 genes in Chinese patients using denaturing high-performance liquid chromatography (DHPLC. Methods Both PKD1 and PKD2 genes were mutation screened in each proband from 65 families using DHPLC followed by DNA sequencing. Novel variations found in the probands were checked in their family members available and 100 unrelated normal controls. Then the pathogenic potential of the variations of unknown significance was examined by evolutionary comparison, effects of amino acid substitutions on protein structure, and effects of splice site alterations using online mutation prediction resources. Results A total of 92 variations were identified, including 27 reported previously. Definitely pathogenic mutations (ten frameshift, ten nonsense, two splicing defects and one duplication were identified in 28 families, and probably pathogenic mutations were found in an additional six families, giving a total detection level of 52.3% (34/65. About 69% (20/29 of the mutations are first reported with a recurrent mutation rate of 31%. Conclusions Mutation study of PKD1 and PKD2 genes in Chinese Hans with ADPKD may contribute to a better understanding of the genetic diversity between different ethnic groups and enrich the mutation database. Besides, evaluating the pathogenic potential of novel variations should also facilitate the clinical diagnosis and genetic counseling of the disease.

  19. Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    LIU Cai-xia; SHEN A-dong; LI Xiao-feng; JIAO Wei-wei; BAI Song; YUAN Feng; GUAN Xiao-lei; ZHANG Xin-gen; ZHANG Gui-rong; LI Zhong-zhi

    2009-01-01

    Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism (SNP) scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population. Methods One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calculated by PHASE2.0 software. Haploview software was used to 15erform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method. Results The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect (P=0.0037) by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect (P=0.05, multiple loci regression analyses based on reconstructed haplotype blocks). Conclusions TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Hart Chinese. This finding has set a direction for further genetic and functional studies.

  20. NEDD4 single nucleotide polymorphism rs2271289 is associated with keloids in Chinese Han population.

    Science.gov (United States)

    Zhao, Ying; Liu, Sheng-Li; Xie, Jian; Ding, Mao-Qian; Lu, Meng-Zhu; Zhang, Lan-Fang; Yao, Xiu-Hua; Hu, Bai; Lu, Wen-Sheng; Zheng, Xiao-Dong

    2016-01-01

    Keloids are abnormally raised fibroproliferative lesions that usually occur following cutaneous traumas. Recently, a large-scale genome-wide association study (GWAS) has identified multiple single nucleotide polymorphisms (SNPs) in three genetic loci that are associated with keloids in Japanese population. Subsequently, two reported loci 1q41 (rs873549 and rs1442440) and 15q21.3 (rs2271289) for keloids were confirmed in selected Chinese population. The association of these SNPs with clinical features of keloids, has not yet been studied. To explore the role of these SNPs in the pathogenesis of keloids, we performed a case-controlled study in another independent Chinese Han population to analyze the correlation between 4 SNPs (rs873549, rs2118610, rs1511412, rs2271289) and keloids phenotypes. 309 keloids patients and 1080 control subjects were included. The results showed that, in the dominant mode of inheritance, the minor allele T of SNP rs2271289 had significantly higher odd ratios (ORs) in the severe keloid group compared with both the controls and the mild keloid group. The ORs were maintained after Bonferroni's correction (OR: 4.09, 95% CI: 1.78-9.37, P-value 3.25E-04). The ratio of the severe: mild OR for rs2271289 (dominant model) is (4.73/1.84=2.57). Similar associations in SNP rs2271289 were seen for groups with no family history and multiplesite compared with the control groups. No associations between keloid number, family history or severity relative to the controls were observed for the other three SNPs. Our data support that rs2271289 is strongly associated with severe keloids and might contribute to the complexity of clinical features of keloids. PMID:27158346

  1. Association of Lumican Gene with Susceptibility to Pathological Myopia in the Northern Han Ethnic Chinese

    OpenAIRE

    Yang Li; Yudong Wu; Zhongjun Zhou; Tingzhun Zhu; Fengju Zhang

    2009-01-01

    Pathological myopia is a severe hereditary ocular disease leading to blindness. It is urgent and very important to find the pathogenesis and therapy for this disease. The purpose of the study is to analyze sequences of lumican and decorin genes with pathological myopia(PM) and control subjects to verify the relationship between lumican, decorin genes and PM in Northern Han Chinese. We collected and analyzed the blood samples of 94 adults (including 12 pedigree cases and 82 sporadic cases) wit...

  2. Mitochondrial DNA Haplogroups and the Risk of Sporadic Parkinson's Disease in Han Chinese

    OpenAIRE

    Ya-Fang Chen,; Wan-Jin Chen; Xiao-Zhen Lin; Qi-Jie Zhang; Jiang-Ping Cai; Chia-Wei Liou; Ning Wang

    2015-01-01

    Background: Mitochondrial dysfunction is linked to the pathogenesis of Parkinson′s disease (PD). However, the precise role of mitochondrial DNA (mtDNA) variations is obscure. On the other hand, mtDNA haplogroups have been inconsistently reported to modify the risk of PD among different population. Here, we try to explore the relationship between mtDNA haplogroups and sporadic PD in a Han Chinese population. Methods: Nine single-nucleotide polymorphisms, which define the major Asian mtDNA ...

  3. Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia.

    Science.gov (United States)

    Bi, Rui; Tang, Jinsong; Zhang, Wen; Li, Xiao; Chen, Shi-Yi; Yu, Dandan; Chen, Xiaogang; Yao, Yong-Gang

    2016-03-01

    The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m.15395 A>G and m.8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m.15395 A>G and m.8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease. PMID:26822593

  4. Sequence Variants of ADIPOQ and Association with Type 2 Diabetes Mellitus in Taiwan Chinese Han Population

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    Ming-Kai Tsai

    2014-01-01

    Full Text Available Diabetes is a serious global health problem. Large-scale genome-wide association studies identified loci for type 2 diabetes mellitus (T2DM, including adiponectin (ADIPOQ gene and transcription factor 7-like 2 (TCF7L2, but few studies clarified the effect of genetic polymorphisms of ADIPOQ and TCF7L2 on risk of T2DM. We attempted to elucidate association between T2DM and polymorphic variations of both in Taiwan’s Chinese Han population, with our retrospective case-control study genotyping single nucleotide polymorphisms (SNPs in ADIPOQ and TCF7L2 genes both in 149 T2DM patients and in 139 healthy controls from Taiwan. Statistical analysis gauged association of these polymorphisms with risk of T2DM to show ADIPOQ rs1501299 polymorphism variations strongly correlated with T2DM risk (P=0.042, with rs2241766 polymorphism being not associated with T2DM (P=0.967. However, both polymorphisms rs7903146 and rs12255372 of TCF7L2 were rarely detected in Taiwanese people. This study avers that ADIPOQ rs1501299 polymorphism contributes to risk of T2DM in the Taiwanese population.

  5. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

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    Ruan Yan

    2009-06-01

    Full Text Available Abstract Background Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism.SHANK3 (SH3 and multiple ankyrin repeat domains protein gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD of excitatory synapse. Rare mutations and copy number variation (CNV evidence suggested SHANK3 as a strong candidate gene for the pathogenesis of autism. Methods We performed an association study between SHANK3 gene polymorphisms and autism in Chinese Han population. We analyzed the association between five single nucleotide polymorphisms (SNPs of the SHANK3 gene and autism in 305 Chinese Han trios, using the family based association test (FBAT. Linkage disequilibrium (LD analysis showed the presence of LD between pairwise markers across the locus. We also performed mutation screening for the rare de novo mutations reported previously. Results No significant evidence between any SNPs of SHANK3 and autism was observed. We did not detect any mutations described previously in our cohort. Conclusion We suggest that SHANK3 might not represent a major susceptibility gene for autism in Chinese Han population.

  6. Association between AKT1 gene polymorphisms and depressive symptoms in the Chinese Han population with major depressive disorder

    Institute of Scientific and Technical Information of China (English)

    Chunxia Yang; Ning Sun; Yan Ren; Yan Sun; Yong Xu; Aiping Li; Kewen Wu; Kerang Zhang

    2012-01-01

    For this study, 461 Chinese Han patients with depressive disorder were recruited. The AKT1 genotype and allele distribution were determined by PCR amplification and direct sequencing. UNPHASED software was used to analyze associations between the 17-item Hamilton Depression Rating Scale, total score, four factors and the AKT1 rs2494746 and rs3001371 polymorphisms. The results indicate that there is a significant association between suicidal ideation and anxiety symptoms in depressed patients and the rs2494746 polymorphism. The other AKT1 polymorphism, rs3001371, was significantly associated with work and activities. Patients with the rs3001371-A allele had a significantly more severe illness compared to patients with the rs3001371-G allele. Thus, AKT1 polymorphisms appear to be associated with depression severity, anxiety symptoms, work and activities, and suicide attempts in patients with depressive disorder.

  7. Association between serotonin transporter gene polymorphisms and non-lesional temporal lobe epilepsy in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Fengyuan Che; Youyi Wei; Xueyuan Heng; Qingxi Fu; Jianzhang Jiang

    2010-01-01

    Serotonin(5-hydroxytryptamine,5-HT)influences the cortical and subcortical excitatory/inhibitory balance and participates in the pathophysiological processes of epilepsy.The serotonin transporter(5-HTT)is the most important factor in serotonin inactivation.We tested whether 5-HTT polymorphisms are involved in the pathogenesis of epilepsy in Chinese Han population.We did not find a significant difference in the frequencies of genotypes and alleles in the 5-HTT gene-linked polymorphic region(5-HTTLPR)in patients with non-lesional temporal lobe epilepsy and normal controls(P > 0.05).Frequencies of the 5-HTT intren 2 variable number tandem repeat(5-HTTVNTR)12/12 genotype and allele 12 were higher in the patients with non-lesional temporal lobe epilepsy than normal controls(P < 0.01).The odds ratio of affecting non-lesional temporal lobe epilepsy was1.435(95% Cl,1.096 1.880)in patients carrying allele 12(P < 0.05).Although the 5-HTFLPR may not be a genetic locus of non-lesional temporal lobe epilepsy in Chinese Han population,allele 12 in the 5-HTFVNTR may correlate with non-lesional temporal lobe epilepsy.The Stin2.12 allele and12/12 genotype could be predisposing to non-lesional temporal lobe epilepsy.

  8. Polymorphisms in protein disulfide isomerase are associated with sporadic amyotrophic lateral sclerosis in the Chinese Han population.

    Science.gov (United States)

    Yang, Qin; Guo, Zhi-Bao

    2016-07-01

    Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neurodegenerative disease that targets the motor system; it is caused by the loss of motor neurons in the spinal cord, brain stem, and cerebral cortex. However, the etiology of ALS remains unknown, although genetic factors may play an important role in its development. The purpose of this study was to investigate the association between common polymorphisms in protein disulfide isomerase (PDI) with sporadic amyotrophic lateral sclerosis (SALS) in a Chinese Han population. Two single nucleotide polymorphisms (SNPs) in P4HB (rs876016 and rs2070872) were genotyped in 322 patients with SALS and 265 control subjects using polymerase chain reaction-restriction fragment length polymorphism. Our results showed that SNPs rs876016 and rs2070872 were significantly associated with ALS. The minor allele frequencies of rs876016 (C) and rs2070872 (G) were significantly higher in patients with sporadic ALS than in control subjects (P = 0.035 and 0.003, respectively). The genotype frequencies of rs876016 and rs2070872 were significantly different between SALS patients and control subjects (genotypic P < 0.001). Individuals carrying rs876016/ rs2070872 C/G genotypes were associated with a significantly increased risk of SALS. These results suggest that common variants in PDI might contribute to the development of SALS in the Chinese Han population. PMID:26000911

  9. The association between common genetic variation in the FTO gene and metabolic syndrome in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    WANG Tong; ZHANG Li-li; ZHANG Yun; SUN Xiao-fang; ZHANG Qian; HUANG Yi; XIAO Xin-hua; WANG Duen-mei; DIAO Cheng-ming; ZHANG Feng; XU Ling-ling; ZHANG Yong-biao; LI Wen-hui

    2010-01-01

    Background Genome-wide association studies for type 2 diabetes mellitus (T2DM) identified FTO gene as a locus conferring increased risk for common obesity in many populations with European ancestry. However, the involvement of FTO gene in obesity or T2DM related metabolic traits has not been consistently established in Chinese populations. The objective of this study was to investigate the association of FTO genetic polymorphisms with metabolic syndrome (MetS) in Han Chinese.Methods We tested 41 FTO single nucleotide polymorphisms (SNPs) for association between FTO and MetS-related traits. There were a total of 236 unrelated subjects (108 cases and 128 controls), grouped according to the International Diabetes Federation (IDF) criteria.Results Of the 41 SNPs examined, only SNP rs8047395 exhibited statistical significance (P=0.026) under a recessive model, after Bonferroni adjustment for multiple testing (OR 1.64, 95% CI 1.11-2.42; P=0.014). The common distributions of this polymorphism among Chinese-with a minor allele frequency (MAF) of 36% in the control group versus 48% in the MetS group-greatly improved our test power in a relatively small sample size for an association study. Previously identified obesity-(or T2DM-) associated FTO SNPs were less common in Han Chinese and were not associated with MetS in this study. No significant associations were found between our FTO SNPs and any endophenotypes of MetS.Conclusions A more common risk-conferring variant of FTO for MetS was identified in Han Chinese. Our study substantiated that genetic variations in FTO locus are involved in the pathogenesis of MetS.

  10. Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Fuu-Jen Tsai

    Full Text Available Kawasaki disease (KD is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS in 250 KD patients and 446 controls in a Han Chinese population residing in Taiwan, and further validated our findings in an independent Han Chinese cohort of 208 cases and 366 controls. The most strongly associated single-nucleotide polymorphisms (SNPs detected in the joint analysis corresponded to three novel loci. Among these KD-associated SNPs three were close to the COPB2 (coatomer protein complex beta-2 subunit gene: rs1873668 (p = 9.52×10⁻⁵, rs4243399 (p = 9.93×10⁻⁵, and rs16849083 (p = 9.93×10⁻⁵. We also identified a SNP in the intronic region of the ERAP1 (endoplasmic reticulum amino peptidase 1 gene (rs149481, p(best = 4.61×10⁻⁵. Six SNPs (rs17113284, rs8005468, rs10129255, rs2007467, rs10150241, and rs12590667 clustered in an area containing immunoglobulin heavy chain variable regions genes, with p(best-values between 2.08×10⁻⁵ and 8.93×10⁻⁶, were also identified. This is the first KD GWAS performed in a Han Chinese population. The novel KD candidates we identified have been implicated in T cell receptor signaling, regulation of proinflammatory cytokines, as well as antibody-mediated immune responses. These findings may lead to a better understanding of the underlying molecular pathogenesis of KD.

  11. Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han.

    Science.gov (United States)

    Dong, H R; Li, H S; Wang, S C; Balin, Q M; Chang, P Y

    2015-01-01

    Systemic lupus erythematosus (SLE) is an autoimmune disease that results in chronic inflammation of different organ systems. Several susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes has yet to be determined. The programmed cell death 1 gene (PDCD1), the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, and the methyl-CpG-binding protein 2 gene (MECP2) are considered to be the candidate genes associated with SLE. We analyzed the role of PDCD1, CTLA4, and MECP2 gene polymorphisms in Han patients suffering from SLE. Using a case-control study, 263 SLE patients and 263 healthy controls were collected from Chinese Northern Han people. Genomic DNA was prepared from peripheral blood leukocytes and the genotyping was performed using a polymerase chain reaction/ligase detection reaction assay. A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between SLE subjects and controls. The GG genotype in rs2239464 and the GG genotype in rs2075596 might protect against SLE. In contrast, no such association was found in the CTLA4 or PDCD1 polymorphisms. The rs2239464 and rs2075596 polymorphisms of MECP2 might play a significant role in the development of SLE in the Northern Han of China. PMID:26782401

  12. Relationship between β3-AR Gene and Obesity, Type 2 Diabetes, Insulin Resistance in Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    HEWei; MAXiang-hua; SHENJie

    2004-01-01

    Objective: To explore the relationship between the β3-adrenergic receptor(β3-AR)gene and obesity, T2DM. insulin resistance in Chinese Han population. Methods: Fifty-three healthy subjects, 105 subjects with simple obesity, 63 type 2 diabetic patients without obesity, and 114 type 2 diabetic patients with obesity were studied with the technique of PCR-RFLP in codon 64 of the exon region of β3-AR gene representing the variation Trp/Arg. Results:Compared with the subjects of Trp homozygous group, the individuals with Arg allele were more elevated in WHR,MBP,SBP,DBP,FBS,PBS, FINS,PINS, FCP,PCP and lower in ISI. Frequency of Arg allele was higher in HINS sub-group without T2DM. Cnclusion: The results indicate that the Trp/Arg variation might lead to insulin resistance, obesity and T2DM.β3-AR gene is supposed to be the candidate gene of insulin resistance, obesity and T2DM in ChineseHan population.

  13. Incidence of gastroesophageal reflux disease in Uygur and Han Chinese adults in Urumqi

    Institute of Scientific and Technical Information of China (English)

    Chun-Yan Niu; Yong-Li Zhou; Rong Yan; Ni-La Mu; Bao-Hua Gao; Fang-Xiong Wu; Jin-Yan Luo

    2012-01-01

    AIM:To investigate the incidence of gastroesophageal reflux disease (GERD) and its related risk factors in Uygur and Han Chinese adult in Urumqi,China.METHODS:A population-based cross-sectional survey was undertaken in a total of 972 Uygur (684 male and 288 female) aged from 24 to 61 and 1023 Han Chinese (752 male and 271 female) aged from 23 to 63 years.All participants were recruited from the residents who visited hospital for health examination from November 2011 to May 2012.Each participant signed an informed consent and completed a GERD questionnaire (Gerd Q) and a lifestyle-food frequency questionnaire survey.Participants whose Gerd Q score was ≥ 8 and met one of the following requirements would be enrolled into this research:(1) being diagnosed with erosive esophagitis (EE) or Barrett's esophagus (BE) by endoscopy; (2) negative manifestation under endoscopy (non-erosive reflux disease,NERD) with abnormal acid reflux revealed by 24-h esophageal pH monitoring; and (3) suffering from typical heartburn and regurgitation with positive result of proton pump inhibitor test.RESULTS:According to Gerd Q scoring criteria,340 cases of Uygur and 286 cases of Han Chinese were defined as GERD.GERD incidence in Uygur was significantly higher than in Han Chinese (35% vs 28%,x2 =11.09,P < 0.005),Gerd Q score in Uygur was higher than in Han Chinese (7.85 ± 3.1 w 7.15 ± 2.9,P < 0.005),and Gerd Q total score in Uygur male was higher than in female (8.15 ± 2.8 vs 6.85 ± 2.5,P <0.005).According to normalized methods,304 (31%) cases of Uygur were diagnosed with GERD,including 89 cases of EE,185 cases of NERD and 30 cases of BE; 256 (25%) cases of Han Chinese were diagnosed with GERD,including 90 cases of EE,140 cases of NERD and 26 cases of BE.GERD incidence in Uygur was significantly higher than in Han Chinese (31% vs 25%,x2=9.34,P < 0.005) while the incidences were higher in males of both groups than in females (26% vs 5% in Uygur,x2 =35.95,P < 0

  14. Establishment of risk model for pancreatic cancer in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Xing-Hua Lu; Li Wang; Hui Li; Jia-Ming Qian; Rui-Xue Deng; Lu Zhou

    2006-01-01

    AIM: To investigate risk factors for pancreatic cancer and establish a risk model for Han population.METHODS: This population-based case-control study was carried out from January 2002 to April 2004. One hundred and nineteen pancreatic cancer patients and 238 healthy people completed the questionnaire which was used for risk factor analysis. Logistic regression analysis was used to calculate odds ratio (ORs), 95%confidence intervals (Cis) and β value, which were further used to establish the risk model.RESULTS: According to the study, people who have smoked more than 17 pack-years had a higher risk to develop pancreatic cancer compared to non-smokers or light smokers (not more than 17 pack-years) (OR 1.98;95% CI 1.11-3.49, P=0.017). More importantly, heavy smokers in men had increased risk for developing pancreatic cancer (OR 2.11; 95%CI 1.18-3.78, P=0.012)than women. Heavy alcohol drinkers (>20 cup-years)had increased risk for pancreatic cancer (OR 3.68;95%CI 1.60-8.44). Daily diet with high meat intak was also linked to pancreatic cancer. Moreover, 18.5% of the pancreatic cancer patients had diabetes mellitus compared to the control group of 5.8% (P= 0.0003). Typical symptoms of pancreatic cancer were anorexia, upper abdominal pain, bloating, jaundice and weight loss. Each risk factor was assigned a value to represent its impor tance associated with pancreatic cancer. Subsequently by adding all the points together, a risk scoring model was established with a value higher than 45 as being at risk to develop pancreatic cancer.CONCLUSION: Smoking, drinking, high meat diet and diabetes are major risk factors for pancreatic cancer. A risk model for pancreatic cancer in Chinese Hah population has been established with an 88.9% sensitivity and a 97.6% specificity.

  15. The dopamine beta-hydroxylase gene polymorphism rs1611114 is associated with schizophrenia in the Chinese Zhuang but not Chinese Han population.

    Science.gov (United States)

    Long, Jianxiong; Huang, Guifeng; Liang, Baoyun; Ling, Weijun; Guo, Xiaojing; Jiang, Juan; Su, Li

    2016-10-01

    Schizophrenia (SCZ) is a devastating neurodevelopmental disorder. However, the mechanism underlying this highly heritable disorder remains unclear. The dopamine beta-hydroxylase (DBH) gene encodes a key metabolic enzyme of dopamine. Consequently, DBH is considered a candidate gene for SCZ. However, previous studies on its association with SCZ susceptibility have shown conflicting results. Here, we examined association between the rs1611114 polymorphism of DBH and SCZ susceptibility and related clinical symptoms. A total of 691 SCZ patients and 698 age- and gender-matched healthy controls were examined. mRNA expression levels of DBH were measured by quantitative real-time polymerase chain reaction, and the rs1611114 polymorphism was genotyped using the Sequenom MassARRAY platform. Also, the Positive and Negative Syndrome Scale (PANSS) was used to assess SCZ clinical symptoms. Our results show lower DBH mRNA expression levels in SCZ patients than healthy controls (Zhuang: p = 0.000; Han: p = 0.037). Interestingly, the rs1611114 polymorphism was significantly associated with SCZ susceptibility (overdominant model: p = 0.010) in only the Chinese Zhuang population. Furthermore, the rs1611114 polymorphism was associated with PANSS total score (allele T/C: p = 0.015) and general psychopathology score (allele T/C: p = 0.027) in Chinese Zhuang SCZ patients. These results suggest that the DBH gene may play an important role in the occurrence of SCZ. Also, rs1611114 may be associated with SCZ susceptibility and related clinical symptoms in the Chinese Zhuang but not Han Chinese population. Further studies with larger samples of different ethnicities are needed to confirm the role of DBH in SCZ. PMID:27236774

  16. Genetic Variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese Population of Liaoning Province, Northeast China

    Science.gov (United States)

    Yao, Jun; Wang, Bao-jie

    2016-01-01

    In the present study, we investigated the genetic characteristics of 25 Y-chromosomal and 15 autosomal short tandem repeat (STR) loci in 305 unrelated Han Chinese male individuals from Liaoning Province using AmpFISTR® Yfiler® Plus and IdentifilerTM PCR amplification kits. Population comparison was performed between Liaoning Han population and different ethnic groups to better understand the genetic background of the Liaoning Han population. For Y-STR loci, the overall haplotype diversity was 0.9997 and the discrimination capacity was 0.9607. Gene diversity values ranged from 0.4525 (DYS391) to 0.9617 (DYS385). Rst and two multi-dimensional scaling plots showed that minor differences were observed when the Liaoning Han population was compared to the Jilin Han Chinese, Beijing Han Chinese, Liaoning Manchu, Liaoning Mongolian, Liaoning Xibe, Shandong Han Chinese, Jiangsu Han Chinese, Anhui Han Chinese, Guizhou Han Chinese and Liaoning Hui populations; by contrast, major differences were observed when the Shanxi Han Chinese, Yunnan Bai, Jiangxi Han Chinese, Guangdong Han Chinese, Liaoning Korean, Hunan Tujia, Guangxi Zhuang, Gansu Tibetan, Xishuangbanna Dai, South Korean, Japanese and Hunan Miao populations. For autosomal STR loci, DP ranged from 0.9621 (D2S1338) to 0.8177 (TPOX), with PE distributing from 0.7521 (D18S51) to 0.2988 (TH01). A population comparison was performed and no statistically significant differences were detected at any STR loci between Liaoning Han, China Dong, and Shaanxi Han populations. The results showed that the 25 Y-STR and 15 autosomal STR loci in the Liaoning Han population were valuable for forensic applications and human genetics, and Liaoning Han was an independent endogenous ethnicity with a unique subpopulation structure. PMID:27483472

  17. Association between polymorphisms of the IL-23R gene and allergic rhinitis in a Chinese Han population.

    Directory of Open Access Journals (Sweden)

    Di Hu

    Full Text Available OBJECTIVE: Polymorphism of the interleukin-23 receptor gene corresponds with susceptibility to several immune-related diseases. For the terminal differentiation of IL-17-producing effector T-helper cells in vivo, the interleukin-23 receptor gene is of vital importance. As shown recently, Th17 cells probably have a great influence on the pathogenesis of allergic airway diseases. Our intention was to establish an association between polymorphisms in the IL-23R gene and allergic rhinitis (AR in the Chinese Han population. METHODS: We included 358 AR patients and 407 control Chinese subjects in a case-control comparison. The study involved obtaining blood samples for DNA extraction genotyping and determination of 4 selected single-nucleotide polymorphisms in IL-23R by performing PCR restriction fragment length polymorphism analysis (PCR-RFLP. RESULTS: A substantially growing prevalence of the homozygous rs7517847 GG genotype and G allele appeared in the AR patients unlike that observed in the control individuals (P<0.001. In addition, substantially high frequencies of the GGCA and GGCG haplotypes were observed in the AR patients, unlike that observed in the control individuals (P<0.05. The results suggest that the AGTG haplotype may provide protection against AR (P<0.001. CONCLUSIONS: To the best of our knowledge, this is the first study to demonstrate an important association between polymorphisms in IL-23R and AR in the Chinese Han population. A strong association between rs7517847 in a SNP of IL-23R, and AR was identified.

  18. FADS Gene Polymorphisms Confer the Risk of Coronary Artery Disease in a Chinese Han Population through the Altered Desaturase Activities: Based on High-Resolution Melting Analysis

    OpenAIRE

    Li, Si-Wei; Lin, Kun; Ma, Pei; Zhang, Zhen-Lu; Zhou, Yi-Dan; Lu, Shuang-Yan; Zhou, Xin; Liu, Song-Mei

    2013-01-01

    Objective We explored the desaturase activities and the correlation of fatty acid desaturases (FADS) gene single nucleotide polymorphisms (SNPs) with plasma fatty acid in coronary artery disease (CAD) patients in a Chinese Han population. Methods Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505) and a control group (n = 510). Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM) methods. Results After adjustment, D6D activity, assessed as ...

  19. Analysis of the private, collective, and relational self-cognitions among Han and Tibetan Chinese.

    Science.gov (United States)

    Huang, Wei; Mamat, Marhaba; Shang, Rui; Zhang, Tianyang; Li, Hao; Wang, Yao; Luo, Wei; Wu, Yanhong

    2014-08-01

    Differences in the concepts of private, collective, and relational selves between two Chinese ethnic groups, the Han and Tibetan-adhering to the philosophies of Confucianism and Tibetan Buddhism, respectively-were examined. 128 students (54 men, 74 women; M age = 20.9 yr., SD = 2.2) completed the revised Twenty Statements Test and self-reference paradigm. Study 1 found that for Han participants relational and private selves were ranked similarly and as more important than the collective self. Studies 2 and 3 found that adjective words describing private and relational selves were recalled in greater proportions than words describing the collective self. Tibetan participants showed no significant differences between the three self-cognitions. The findings correspond to differences in self-identity among these two subcultures. PMID:25153957

  20. Association between Polymorphisms in Interleukins 4 and 13 Genes and Chronic Periodontitis in a Han Chinese Population.

    Science.gov (United States)

    Chen, Dong; Zhang, Tian-Liang; Wang, Xia

    2016-01-01

    Chronic periodontitis (CP) is one of the most common chronic inflammatory diseases and cytokines play a pivotal role in the regulation of immune response. Interleukin-4 (IL-4) and interleukin-13 (IL-13) are anti-inflammatory cytokines and several polymorphisms of them have been proved involved in periodontal disease. This study aimed to evaluate whether three single nucleotide polymorphisms (SNPs), rs2070874 and rs2243248 from IL4 and rs1800925 from IL13, are associated with CP in a Han Chinese population consisting of 440 moderate or severe CP patients and 324 healthy controls. Genomic DNA extracted from buccal epithelial cells of the included participants were genotyped using a matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry method. No significant association between rs2070874 or rs1800925 and CP was found, while the frequencies of rs2243248 and two haplotypes C-G-T and C-T-T showed significant differences between the two groups. The results suggest that the polymorphism rs2243248 and haplotypes C-G-T and C-T-T may be associated with CP susceptibility in the present Han Chinese population. PMID:27195298

  1. Do nuclear-encoded core subunits of mitochondrial complex I confer genetic susceptibility to schizophrenia in Han Chinese populations?

    Science.gov (United States)

    Li, Xiao; Zhang, Wen; Tang, Jinsong; Tan, Liwen; Luo, Xiong-jian; Chen, Xiaogang; Yao, Yong-Gang

    2015-01-01

    Schizophrenia is one of the most prevalent psychiatric disorders with complex genetic etiology. Accumulating evidence suggests that energy metabolism and oxidative stress play important roles in the pathophysiology of schizophrenia. Dysfunction of mitochondrial respiratory chain and altered expression of complex I subunits were frequently reported in schizophrenia. To investigate whether nuclear-encoded core subunit genes of mitochondrial complex I are associated with schizophrenia, we performed a genetic association study in Han Chinese. In total, 46 tag single nucleotide polymorphisms (SNPs) from 7 nuclear-encoded core genes of mitochondrial complex I were genotyped in 918 schizophrenia patients and 1042 healthy controls. We also analyzed these SNPs in a large sample mainly composed of Europeans through using the available GWAS datasets from the Psychiatric Genomics Consortium (PGC). No significant associations were detected between these SNPs and schizophrenia in Han Chinese and the PGC data set. However, we observed nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction. Taken together, our results suggested that common SNPs in the nuclear-encoded core subunit genes of mitochondrial complex I may not confer genetic susceptibility to schizophrenia. PMID:26053550

  2. Investigation of associations between ten polymorphisms and the risk of coronary artery disease in Southern Han Chinese.

    Science.gov (United States)

    Huang, Er-Wen; Peng, Long-Yun; Zheng, Jin-Xiang; Wang, Dan; Tan, Xiao-Hong; Yang, Zhong-Yi; Li, Xue-Mei; Wu, Qiu-Ping; Tang, Shuang-Bo; Luo, Bin; Quan, Li; Liu, Shui-Ping; Liu, Xiao-Shan; Li, Zhao-Hui; Shi, He; Lv, Guo-Li; Zhao, Jian; Liu, Chao; Cheng, Jian-Ding

    2016-05-01

    A large-scale meta-analysis of 14 genome-wide association studies has identified and replicated a series of susceptibility polymorphisms for coronary artery disease (CAD) in European ancestry populations, but evidences for the associations of these loci with CAD in other ethnicities remain lacking. Herein we investigated the associations between ten (rs579459, rs12413409, rs964184, rs4773144, rs2895811, rs3825807, rs216172, rs12936587, rs46522 and rs3798220) of these loci and CAD in Southern Han Chinese (CHS). Genotyping was performed in 1716 CAD patients and 1572 controls using mass spectrography. Both allelic and genotypic associations of rs964184, rs2895811 and rs3798220 with CAD were significant, regardless of adjustment for covariates of gender, age, hypertension, type 2 diabetes, blood lipid profiles and smoking. Significant association of rs12413409 was initially not observed, but after the adjustment for the covariates, both allelic and genotypic associations were identified as significant. Neither allelic nor genotypic association of the other six polymorphisms with CAD was significant regardless of the adjustment. Our results indicated that four loci of the total 10 were associated with CAD in CHS. Therefore, some of the CAD-related loci in European ancestry populations are indeed susceptibility loci for the risk of CAD in Han Chinese. PMID:26740236

  3. Association of Canonical Wnt/β-Catenin Pathway and Type 2 Diabetes: Genetic Epidemiological Study in Han Chinese

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    Jinjin Wang

    2015-06-01

    Full Text Available We aimed to investigate the associations of polymorphisms in Canonical Wnt/β-catenin pathway (WNT signaling genes (including low-density lipoprotein-related protein 5 [LRP5] and transcription factor 7-like 2 [TCF7L2] gene and the downstream gene glucagon (GCG and risk of type 2 diabetes mellitus (T2DM in a Han Chinese population. We genotyped the single nucleotide polymorphisms (SNPs for LRP5, TCF7L2 and GCG gene were genotyped in 1842 patients with T2DM and 7777 normal glucose-tolerant healthy subjects. We used multifactor dimensionality reduction (MDR and multiplicative logistic regression adjusting for sex, age, anthropometric measurements and lipid levels to investigate the gene-gene interactions for the risk of T2DM. Among the five SNPs in LRP5, the recessive model of rs7102273 and the haplotype GCTCC were associated with T2DM risk; the haplotype GCTTC was associated with decreased risk. For TCF7L2, the rs11196218 genotype GA and the haplotype CCG, TTG, TTA were associated with T2DM risk; whereas, the haplotype CTG and TCG were associated with decreased risk. Both MDR and multiplicative logistic regression revealed potential gene–gene interactions among LRP5, TCF7L2, and GCG associated with T2DM. The WNT signaling pathway may play a significant role in risk of T2DM in Han Chinese people.

  4. Association of Canonical Wnt/β-Catenin Pathway and Type 2 Diabetes: Genetic Epidemiological Study in Han Chinese.

    Science.gov (United States)

    Wang, Jinjin; Zhao, Jingzhi; Zhang, Jianfeng; Luo, Xinping; Gao, Kaiping; Zhang, Ming; Li, Linlin; Wang, Chongjian; Hu, Dongsheng

    2015-06-01

    We aimed to investigate the associations of polymorphisms in Canonical Wnt/β-catenin pathway (WNT) signaling genes (including low-density lipoprotein-related protein 5 [LRP5] and transcription factor 7-like 2 [TCF7L2] gene) and the downstream gene glucagon (GCG) and risk of type 2 diabetes mellitus (T2DM) in a Han Chinese population. We genotyped the single nucleotide polymorphisms (SNPs) for LRP5, TCF7L2 and GCG gene were genotyped in 1842 patients with T2DM and 7777 normal glucose-tolerant healthy subjects. We used multifactor dimensionality reduction (MDR) and multiplicative logistic regression adjusting for sex, age, anthropometric measurements and lipid levels to investigate the gene-gene interactions for the risk of T2DM. Among the five SNPs in LRP5, the recessive model of rs7102273 and the haplotype GCTCC were associated with T2DM risk; the haplotype GCTTC was associated with decreased risk. For TCF7L2, the rs11196218 genotype GA and the haplotype CCG, TTG, TTA were associated with T2DM risk; whereas, the haplotype CTG and TCG were associated with decreased risk. Both MDR and multiplicative logistic regression revealed potential gene-gene interactions among LRP5, TCF7L2, and GCG associated with T2DM. The WNT signaling pathway may play a significant role in risk of T2DM in Han Chinese people. PMID:26083111

  5. Association between Polymorphisms in Interleukins 4 and 13 Genes and Chronic Periodontitis in a Han Chinese Population

    Science.gov (United States)

    Chen, Dong; Zhang, Tian-liang; Wang, Xia

    2016-01-01

    Chronic periodontitis (CP) is one of the most common chronic inflammatory diseases and cytokines play a pivotal role in the regulation of immune response. Interleukin-4 (IL-4) and interleukin-13 (IL-13) are anti-inflammatory cytokines and several polymorphisms of them have been proved involved in periodontal disease. This study aimed to evaluate whether three single nucleotide polymorphisms (SNPs), rs2070874 and rs2243248 from IL4 and rs1800925 from IL13, are associated with CP in a Han Chinese population consisting of 440 moderate or severe CP patients and 324 healthy controls. Genomic DNA extracted from buccal epithelial cells of the included participants were genotyped using a matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry method. No significant association between rs2070874 or rs1800925 and CP was found, while the frequencies of rs2243248 and two haplotypes C-G-T and C-T-T showed significant differences between the two groups. The results suggest that the polymorphism rs2243248 and haplotypes C-G-T and C-T-T may be associated with CP susceptibility in the present Han Chinese population. PMID:27195298

  6. Epidemiology, species distribution, antifungal susceptibility, and ERG11 mutations of Candida species isolated from pregnant Chinese Han women.

    Science.gov (United States)

    Yang, L; Su, M Q; Ma, Y Y; Xin, Y J; Han, R B; Zhang, R; Wen, J; Hao, X K

    2016-01-01

    The widespread use of antifungal agents has led to increasing azole resistance in Candida species. A major azole-resistance mechanism involves point mutations in the ERG11 gene, which encodes cytochrome P450 lanosterol 14a-demethylase. In this study, vaginal swabs were obtained from 657 pregnant Chinese Han women and cultured appropriately. The open reading frame of the obtained fungal species were amplified by PCR and sequenced; additionally, the ERG11 gene of the isolated Candida species was amplified and sequenced, and the antifungal susceptibility of the isolated species was determined. The vaginal swabs of 124 women produced fungal cultures; five species of Candida were isolated from the patients, among which Candida albicans was predominant. Twelve C. albicans isolates (13.8%) were resistant to fluconazole and 2 (2.2%) were resistant to itraconazole. Seventeen mutations, including 9 silent and 8 missense mutations, were identified in the ERG11 gene of 31 C. albicans isolates. Our findings suggest that infection caused by C. albicans and non-C. albicansis common in Chinese Han women of reproductive age. Moreover, the relationship between Candida infection and certain epidemiological factors emphasizes the need to educate women about the precise diagnosis and punctual treatment of vaginitis. PMID:27173274

  7. Associations Between ABCG2 Gene Polymorphisms and Isolated Septal Defects in a Han Chinese Population

    OpenAIRE

    Wang, Chuan; Xie, Liang; Li, Huaying; Li, Yifei; Mu, Dezhi; Zhou, Rong; Liu, Ruiqi; Zhou, Kaiyu; Hua, Yimin

    2014-01-01

    Breast cancer resistance protein (BCRP) in the placenta, encoded by the ABCG2 gene in humans, plays an essential role in regulating fetal exposure to toxicants and the maintenance of cellular folic acid homeostasis. This study aimed at exploring the associations between 421C>A and 34G>A polymorphisms within the ABCG2 gene of the children and isolated septal defects in a Han Chinese population. An age- and gender-matched case-control study involving 210 pairs was conducted. Genotyping of the A...

  8. Volume measurement of thalami in normal Chinese Han nationality adults by the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To measure the volume of thalamus in 1000 healthy Chinese Han nationality adults, and to analyze the relationship between thalamic volume and age, sex, weight and cerebral volume, to provide reliable data for the construction of database of Chinese adults' digital standard brain. Methods: Totally 1000 healthy Chinese adults of Han nationality aged from 18 to 80 years were recruited.They were divided into 5 groups by age: 18-30, 31-40, 41-50, 51-60 and 61-80 years. Each group included 100 males and 100 females. Brain images were obtained on a 1.5 T MR, and the outline of thalami was drawn with Aquariusws software. Then the thalamic volume was calculated automatically. The volumes of left and right thalamus were compared by paired sample t-test. Thalamic volumes of the same side were compared between males and females by independent sample t-test. And thalamic volumes of different age groups were compared by one-way ANOVA. The relationships between thalamic volume and age, sex, weight and cerebral volume were analyzed respectively. Results: The males' standardized volumes of left and right thalamus of healthy Chinese Han nationality adults were (5776 ± 780), (5655 ± 759) mm3, and they were (5464 ±573), (5360 ± 542) mm3 for female. The males' thalamic volume was more than the females' on the same side (t=2.245, 2.200, P<0.01). The left thalamic volumes of various age groups were (6180 ± 534), (6047 ± 562), (5426 ± 471), (5552 ± 526), (4866 ± 552) mm3, respectively, while the right thalamic volumes of the 5 groups were (6069 ± 532), (5895 ± 539), (5357 ± 480), (5396 ± 445),(4791 ± 558)mm3, respectively. There were statistically significant difference among the 5 groups (F=165.686, 165.235, P<0.01). The left and right thalamic volume were all negatively correlated with age (r=-0.633, -0.645, P<0.05). Conclusions: With high resolution 1.5 T MR scanner,grey matter and white matter can be depicted clearly and the outline of

  9. Association between polymorphisms of the IKZF3 gene and systemic lupus erythematosus in a Chinese Han population.

    Directory of Open Access Journals (Sweden)

    Xinze Cai

    Full Text Available OBJECTIVE: It has been reported that IKAROS family of zinc finger 3 (IKZF3-deficient mice spontaneously develop human systemic lupus erythematosus (SLE-like phenotypes and produce anti-dsDNA Ab leading to immune complex-mediated glomerulonephritis. Polymorphism of the IKZF3 gene corresponds with the susceptibility to several immune-related diseases. Our intention was to establish an association between polymorphisms in the IKZF3 gene and SLE in the Chinese Han population. METHODS: The study involved obtaining blood samples for DNA extraction and genotyping the 4 selected single-nucleotide polymorphisms (SNPs in IKZF3, including rs12150079, rs9909593, rs907091, and rs2872507, by performing PCR restriction fragment length polymorphism analysis (PCR-RFLP. A group of 366 SLE patients were compared to 455 healthy controls. RESULTS: A significant decrease in frequencies of the rs907091 CC genotype and C allele appeared in the SLE patients unlike that observed in the controls (p = 0.001 and 0.015, respectively. The frequencies of the rs12150079 genotype and allele were different between the SLE patients and the control individuals, although the significance was only marginal (p = 0.046 and 0.049, respectively. In addition, a significantly low frequency of the GGCG haplotype was observed in the SLE patients, suggesting that it may provide protection against SLE (p = 0.011. CONCLUSION: To the best of our knowledge, this is the first study to demonstrate an important association between polymorphisms in IKZF3 and SLE in the Chinese Han population. A strong association between rs907091 in the IKZF3 gene and SLE was identified.

  10. Frequencies of red blood cell major blood group antigens and phenotypes in the Chinese Han population from Mainland China.

    Science.gov (United States)

    Yu, Y; Ma, C; Sun, X; Guan, X; Zhang, X; Saldanha, J; Chen, L; Wang, D

    2016-08-01

    Alloantibodies directed to red blood cell (RBC) antigens play an important role in alloimmune-mediated haemolytic transfusion reactions and haemolytic disease of the foetus and newborn. The frequencies and phenotypes of RBC antigens are different in populations from different geographic areas and races. However, the data on major blood group antigens in the Chinese Han population from Mainland China are still very limited; thus, we aimed to investigate them in this study. A total of 1412 unrelated voluntary Chinese Han blood donors were randomly recruited. All donors were typed for blood group antigens: D, C, c, E, e, C(w) , Jk(a) , Jk(b) ,M, N, S, s, Le(a) , Le(b) , K, k. Kp(a) , Kp(b) , Fy(a) , Fy(b) , Lu(a) , Lu(b) , P1 and Di(a) using serological technology. Calculations of antigen and phenotype frequencies were expressed as percentages and for allele frequencies under the standard assumption of Hardy-Weinberg equilibrium. Amongst the Rh antigens, D was the most common (98.94%) followed by e (92.28%), C (88.81%), c (58.43%), E (50.78%) and C(w) (0.07%) with DCe/DCe (R1 R1 , 40.72%) being the most common phenotype. In the Kell blood group system, k was present in 100% of the donors and a rare phenotype, Kp (a+b+), was found in 0.28% of the donors. For the Kidd and Duffy blood group systems, Jk (a+b+) and Fy (a+b-) were the most common phenotypes (44.05% and 84.35%, respectively). In the MNS blood group system, M+N+S-s+ (45.54%) was the most common, whereas M+N-S-s- and M-N+S-s- were not found. The rare Lu (a-b-) and Lu (a+b+) phenotypes were identified in 0.43% and 1.13% of the donors, respectively. Le(a) and Le(b) were seen in 17.92% and 63.03% of donors, respectively. The frequency of Di(a) was 4.75%, which was higher than in the Chinese population in Taiwan region or the Caucasian and Black populations (P < 0.0001). This study systematically describes the frequencies of 24 blood group antigens in the Chinese Han population from Mainland China. The data can

  11. Correlation between LRRK2 gene polymorphism sites S1647T and R1398H and Parkinson's disease in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Xueli Chang; Xueye Mao; Zijuan Zhang; Jinhong Zhang; Yuan Yang; Tao Li; Nannan Li; Jean-Marc Burgunder; Rong Peng

    2011-01-01

    A recent multicenter study demonstrated that two variants of LRRK2, S1647T and R1398H, are associated with sporadic Parkinson's disease.The present study analyzed LRRK2 gene polymorphisms of S1647T and R1398H, demonstrating that the LRRK2 gene polymorphism S1647T variant is a risk factor for Parkinson's disease in a Chinese Han population.However, the R1398H variant did not influence the risk for Parkinson's disease.In addition, there was no difference in clinical symptoms of Parkinson's disease patients with various genotypes.Results showed that the LRRK2 S1647T variant was associated with an increased risk for developing early-onset Parkinson's disease in a Chinese Han population.In addition, there was no correlation between LRRK2 S1647T, R1398H variants and G2385R, R1628P variants in Parkinson's disease patients.

  12. Association of polymorphisms in the DCDC2 gene with developmental dyslexia in the Han Chinese

    Institute of Scientific and Technical Information of China (English)

    ZUO Peng-xiang; WU Han-rong; LI Zeng-chun; CAO Xu-dong; PANG Li-juan; YANG Lan; LIU Fan; ZHAO Feng

    2012-01-01

    Background Genetic association studies on populations of European origin have identified the DCDC2 gene as a susceptibility locus for developmental dyslexia.Here,we sought to investigate the association of DCDC2 polymorphisms with developmental dyslexia in children of Han Chinese origin.Methods We undertook a case-control genetic association study on 76 dyslexic children and 79 non-dyslexic matched controls.We isolated DNA from oral mucosal cell samples and genotyped two DCDC2 coding-sequence single nucleotide polymorphisms,rs2274305 and rs6456593,in each sample using SNaPshot single nucleotide extension.We compared the allele and genotype frequencies between the groups using the X2 test and analyzed the relationship between dyslexia and the polymorphism at both loci using unconditional logistic regression.We also predicted haplotypes and compared their frequencies between the two groups.Results The differences in the genotype distribution and the allelic genes of the two single nucleotide luci of the DCDC2 gene,rs2274305 and rs6456593,between the two dyslexic and non-dyslexic groups were statistically meaningless (P >0.05).The differences in the haplotype distributions of the DCDC2 gene between the dyslexic and normal group were statistically meaningless (P >0.05).Conclusion The DCDC2 gene may not be a susceptibility factor for developmental dyslexia among the Han Chinese.However,methodological issues may have prevented the detection of oositive associations.

  13. Profiling plasma peptides for the identification of potential ageing biomarkers in Chinese Han adults.

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    Jiapeng Lu

    Full Text Available Advancing age is associated with cardiovascular disease, diabetes mellitus and cancer, and shows significant inter-individual variability. To identify ageing-related biomarkers we performed a proteomic analysis on 1890 Chinese Han individuals, 1136 males and 754 females, aged 18 to 82 years, using weak cation exchange magnetic bead based MALDI-TOF-MS analysis. The study identified 44 peptides which varied in concentration in different age groups. In particular, apolipoprotein A-I (ApoA1 concentration gradually increased between 18 to 50 years of age, the levels of fibrinogen alpha (FGA decreased over the same age span, while albumin (ALB was significantly degraded in middle-aged individuals. In addition, the plasma peptide profiles of FGA and four other unidentified proteins were found to be gender-dependent. Plasma proteins such as FGA, ALB and ApoA1 are significantly correlated with age in the Chinese Han population and could be employed as indicative ageing-related biomarkers.

  14. The Association Study between Twenty One Polymorphisms in Seven Candidate Genes and Coronary Heart Diseases in Chinese Han Population.

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    Barrak F Alobeidy

    Full Text Available Previous genome-wide association studies (GWAS in multiple populations identified several genetic loci for coronary heart diseases (CHD. Here we utilized a 2-stage candidate gene association strategy in Chinese Han population to shed light on the putative association between several metabolic-related candidate genes and CHD. At the 1(st stage, 190 patients with CHD and 190 controls were genotyped through the MassARRAY platform. At the 2(nd stage, a larger sample including 400 patients and 392 controls was genotyped by the High Resolution Melt (HRM method to confirm or rule out the associations with CHD. MLXIP expression level was quantified by the real time PCR in 65 peripheral blood samples. From the 21 studied single nucleotide polymorphisms (SNPs of seven candidate genes: MLXIPL, MLXIP, MLX, ADIPOR1, VDR, SREBF1 and NR1H3, only one tag SNP rs4758685 (T→C was found to be statistically associated with CHD (P-value = 0.02, Odds ratio (OR of 0.83. After adjustment for the age, sex, lipid levels and diabetes, the association remained significant (P-value = 0.03. After adjustment for the hypertension, P-value became 0.20 although there was a significant difference in the allele distribution between the CHD patients with hypertension and the controls (P-value = 0.04, 406 vs 582. In conclusion, among the 21 tested SNPs, we identified a novel association between rs4758685 of MLXIP gene and CHD. The C allele of common variant rs4758685 interacted with hypertension, and was found to be protective against CHD in both allelic and genotypic models in Chinese Han population.

  15. A Case-Control Study between Gene Polymorphisms of Polyunsaturated Fatty Acid Metabolic Rate-Limiting Enzymes and Acute Coronary Syndrome in Chinese Han Population

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    Zikai Song; Hongyan Cao; Ling Qin; Yanfang Jiang

    2013-01-01

    The purpose of this study is to analyze the relationship between the polymorphisms of fatty acid desaturase 1 (FADS1), fatty acid desaturase 2 (FADS2), and elongation of very long-chain fatty acids-like 2 (ELOVL2) and acute coronary syndrome (ACS) in Chinese Han population. Therefore, we selected three single nucleotide polymorphisms (SNPs) from these candidate genes and genotyped them using PCR-based restriction fragment length polymorphism analysis in 249 ACS patients and 240 non-ACS subjec...

  16. Establishment of the Method of Immunohistochemistry Assay for the Detection of Scrapie in Chinese Short-Tailed Han Sheep by Monoclonal Antibody

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    The method of immunohistochemistry assay for the detection of scrapie in Chinese Short-tailed Han sheep was established using monoclonal antibody. Genomic DNA was isolated from Chinese Short-tailed Han sheep blood. Using the polymerase chain reaction technique, PrP27-30 gene sequence was amplified from Chinese Short-tailed Han sheep genomic DNA. By recombinant DNA technology, the recombinant protein of Chinese Short-tailed Han sheep PrP27-30 was obtained. Then, using standard methodology of myeloma cell fusion, a panel of monoclonal antibodies was generated. With mAbs, scrapie in Chinese Short-tailed Han sheep was detected by immunohistochemistry assay. The recombinant protein of Chinese Short-tailed Han sheep PrP27-30 was obtained and a panel of six hybridoma cell lines secreting specific antibodies to Chinese Short-tailed Han sheep PrP27-30 related to scrapie was obtained with one fusion between myeloma Sp2/0 and spleen cells from mice immunized with the purified recombinant protein. Four hybridoma cell lines can be used in immunohistochemistry assay for the detection of scrapie in Chinese Short-tailed Han sheep. So that the special monoclonal antibody developed in author's institute can be used to detect PrPsc of scrapie in Chinese Short-tailed Han sheep by immunohistochemistry in China.

  17. Toll-like receptor 2 -196 to -174 del polymorphism influences the susceptibility of Han Chinese people to Alzheimer's disease

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    Mao Cai-Xia

    2011-10-01

    Full Text Available Abstract Background Toll-like receptor 2 (TLR2 represents a reasonable functional and positional candidate gene for Alzheimer's disease (AD as it is located under the linkage region of AD on chromosome 4q, and functionally is involved in the microglia-mediated inflammatory response and amyloid-β clearance. The -196 to -174 del polymorphism affects the TLR2 gene and alters its promoter activity. Methods We recruited 800 unrelated Northern Han Chinese individuals comprising 400 late-onset AD (LOAD patients and 400 healthy controls matched for gender and age. The -196 to -174 del polymorphism in the TLR2 gene was genotyped using the polymerase chain reaction (PCR method. Results There were significant differences in genotype (P = 0.026 and allele (P = 0.009 frequencies of the -196 to -174 del polymorphism between LOAD patients and controls. The del allele was associated with an increased risk of LOAD (OR = 1.31, 95% CI = 1.07-1.60, Power = 84.9%. When these data were stratified by apolipoprotein E (ApoE ε4 status, the observed association was confined to ApoE ε4 non-carriers. Logistic regression analysis suggested an association of LOAD with the polymorphism in a recessive model (OR = 1.64, 95% CI = 1.13-2.39, Bonferroni corrected P = 0.03. Conclusions Our data suggest that the -196 to -174 del/del genotype of TLR2 may increase risk of LOAD in a Northern Han Chinese population.

  18. Prediction consistency and clinical presentations of breast cancer molecular subtypes for Han Chinese population

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    Huang Chi-Cheng

    2012-09-01

    Full Text Available Abstract Background Breast cancer is a heterogeneous disease in terms of transcriptional aberrations; moreover, microarray gene expression profiles had defined 5 molecular subtypes based on certain intrinsic genes. This study aimed to evaluate the prediction consistency of breast cancer molecular subtypes from 3 distinct intrinsic gene sets (Sørlie 500, Hu 306 and PAM50 as well as clinical presentations of each molecualr subtype in Han Chinese population. Methods In all, 169 breast cancer samples (44 from Taiwan and 125 from China of Han Chinese population were gathered, and the gene expression features corresponding to 3 distinct intrinsic gene sets (Sørlie 500, Hu 306 and PAM50 were retrieved for molecular subtype prediction. Results For Sørlie 500 and Hu 306 intrinsic gene set, mean-centring of genes and distance-weighted discrimination (DWD remarkably reduced the number of unclassified cases. Regarding pairwise agreement, the highest predictive consistency was found between Hu 306 and PAM50. In all, 150 and 126 samples were assigned into identical subtypes by both Hu 306 and PAM50 genes, under mean-centring and DWD. Luminal B tended to show a higher nuclear grade and have more HER2 over-expression status than luminal A did. No basal-like breast tumours were ER positive, and most HER2-enriched breast tumours showed HER2 over-expression, whereas, only two-thirds of ER negativity/HER2 over-expression tumros were predicted as HER2-enriched molecular subtype. For 44 Taiwanese breast cancers with survival data, a better prognosis of luminal A than luminal B subtype in ER-postive breast cancers and a better prognosis of basal-like than HER2-enriched subtype in ER-negative breast cancers was observed. Conclusions We suggest that the intrinsic signature Hu 306 or PAM50 be used for breast cancers in the Han Chinese population during molecular subtyping. For the prognostic value and decision making based on intrinsic subtypes, further prospective

  19. Pharmacokinetics of Lidocaine Hydrochloride Metabolized by CYP3A4 in Chinese Han Volunteers Living at Low Altitude and in Native Han and Tibetan Chinese Volunteers Living at High Altitude.

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    Zhang, Juanling; Zhu, Junbo; Yao, Xingchen; Duan, Yabin; Zhou, Xuejiao; Yang, Meng; Li, Xiangyang

    2016-01-01

    To investigate the pharmacokinetics of lidocaine hydrochloride metabolized by cytochrome P450 3A4 (CYP3A4) in Chinese Han volunteers living at low altitude (LA) and in native Han and Tibetan Chinese volunteers living at high altitude, lidocaine hydrochloride 10 mg was given by intramuscular injection to 3 groups: Han volunteers living at LA, and native Han and Tibetan volunteers living at a high altitude. Blood samples were collected before the (baseline) study drug was given and at 0.25, 0.5, 1.0, 1.5, 2.0, 3.0, 4.0, 6.0, 8.0 h after study drug administration. Lidocaine hydrochloride in plasma was determined by RP-HPLC. Pharmacokinetics parameters of lidocaine hydrochloride showed that there were no significant difference between the native Han and Tibetan volunteers, but the t1/2 was 29.8 and 29.8% higher in 2 groups, respectively, than in the LA group. To study related mechanism, the effects of exposure to chronic high-altitude hypoxia (CHH) on the activity and expression of CYP3A1 were examined in rats. Rats were divided into LA, chronic moderate altitude hypoxia, and CHH groups. CHH caused significant decreases in the activity and protein and mRNA expression of rat CYP3A1 in vivo. This study found significant changes in the disposition of lidocaine hydrochloride in native healthy Tibetan and Han Chinese subjects living at a high altitude in comparison to healthy Han Chinese subjects living at LA, it might be due to significant decreases in the activity and protein and mRNA expression of CYP3A4 under CHH condition. PMID:26730802

  20. Genetic polymorphism of 11 Y-chromosomal STR loci in Yunnan Han Chinese.

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    Yanmei, Yang; Tao, Gu; Yubao, Zeng; Chunjie, Xiao; Bifeng, Chen; Shi, Luo; Bingying, Xu; Qiang, Jing; Qinyong, Zhuang; Wen, Zhang; Shengjun, Luo; Shengjie, Nie

    2010-02-01

    Allele frequencies and haplotypes of 11 Y-chromosome STR loci, DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 ab, DYS438, DYS439 and DYS437 were determined in 320 unrelated Yunnan Han Chinese males. A total of 293 haplotypes were identified, of which 268 were unique, 23 were shared in two individuals, and 2 were shared in three individuals. The allele diversity values for each locus ranged from 0.4087 (DYS438) to 0.9701 (DYS385). The allele observed haplotypes diversity value was 0.9994. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications. PMID:20129460

  1. Association of MDR1 gene polymorphisms with the risk of hepatocellular carcinoma in the Chinese Han population

    International Nuclear Information System (INIS)

    The multidrug resistance 1 gene (MDR1) is an important candidate gene for influencing susceptibility to hepatocellular carcinoma (HCC). The objective of the present study was to evaluate the association of MDR1 polymorphisms with the risk of HCC in the Chinese Han population. A total of 353 HCC patients and 335 healthy subjects were enrolled in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), created restriction site-PCR (CRS-PCR) and DNA sequencing methods were used to identify MDR1 gene polymorphisms. Two allelic variants (c.335T>C and c.3073A>C) were detected. The CC genotype of the c.335T>C polymorphism was associated with an increased risk of developing HCC compared to the TT genotype (OR = 2.161, 95%CI = 1.350-3.459, χ2 = 10.55, P = 0.0011). The risk of HCC was significantly higher for the CC genotype in the c.3073A>C polymorphism compared to the AA genotype in the studied populations (CC vs AA: OR = 2.575, 95%CI = 1.646-4.028, χ2 = 17.64, P < 0.0001). The C allele of the c.335T>C and c.3073A>C variants may contribute to the risk of HCC (C vs T of c.335T>C: OR = 1.512, 95%CI = 1.208-1.893, χ2 = 13.07, P = 0.0003, and C vs A of c.3073A>C: OR = 1.646, 95%CI = 1.322-2.049, χ2 = 20.03, P < 0.0001). The c.335T>C and c.3073A>C polymorphisms of the MDR1 gene were associated with the risk of occurrence of HCC in the Chinese Han population. Further investigations are needed to confirm these results in larger different populations

  2. Common variants in QPCT gene confer risk of schizophrenia in the Han Chinese population.

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    Khan, Raja Amjad Waheed; Chen, Jianhua; Shen, Jiawei; Li, Zhiqiang; Wang, Meng; Wen, Zujia; Song, Zhijian; Li, Wenjin; Xu, Yifeng; Shi, Yongyong; Yi, Qizhong; Ji, Weidong

    2016-03-01

    Schizophrenia (SCZ) is a common and severe mental disorder, its etiology has not been elucidated completely. In one previous genome-wide association study (GWAS) of SCZ in the Caucasian population, the QPCT has been reported as susceptible gene for SCZ. The QPCT gene encodes Glutaminyl cyclase (QC), an enzyme which is involved in the post translational modification by converting N-terminal glutamate of protein to pyroglutamate, which is resistant to protease degradation, more hydrophobic, and prone to aggregation and neurotoxic. To further investigate the role of this gene in the pathogenesis of schizophrenia in the Han Chinese population, we conducted this study in 1,248 (Mean age ± S.D, 36.44 years ± 9.0) SCZ cases, 1,248 (Mean age ± S.D, 30.62 years ± 11.35) healthy control samples for a case control study. We genotyped six SNPs in this study, including one positive SNP of the previous study, using the Sequenom MassARRAY platform. We found that rs2373000 was significantly associated with SCZ before correction [rs2373000: P allele = 0.016, χ(2)  = 5.784, OR [95%CI] = 0.861 [0.762-0.972], P genotype = 0.018, χ(2)  = 0.069]. After permutation correction for multiple testing, rs2373000 [rs2373000: P Allele corrected = 0.063, P genotype corrected = 0.069] showed marginal association with SCZ. Additionally, one pathogenic haplotype (TGT) containing rs2373000 was also significantly associated with SCZ. Our results are consistent with the findings of previous study and the genetic risk of QPCT gene for SCZ also exists in the Han Chinese population. © 2015 Wiley Periodicals, Inc. PMID:26492838

  3. Mapping of hepatic expression quantitative trait loci (eQTLs) in a Han Chinese population

    Science.gov (United States)

    Wang, Xiaoliang; Tang, Huamei; Teng, Mujian; Li, Zhiqiang; Li, Jianguo; Fan, Junwei; Zhong, Lin; Sun, Xing; Xu, Junming; Chen, Guoqing; Chen, Dawei; Wang, Zhaowen; Xing, Tonghai; Zhang, Jinyan; Huang, Li; Wang, Shuyun; Peng, Xiao; Qin, Shengying; Shi, Yongyong; Peng, Zhihai

    2014-01-01

    Background Elucidating the genetic basis underlying hepatic gene expression variability is of importance to understand the aetiology of the disease and variation in drug metabolism. To date, no genome-wide expression quantitative trait loci (eQTLs) analysis has been conducted in the Han Chinese population, the largest ethnic group in the world. Methods We performed a genome-wide eQTL mapping in a set of Han Chinese liver tissue samples (n=64). The data were then compared with published eQTL data from a Caucasian population. We then performed correlations between these eQTLs with important pharmacogenes, and genome-wide association study (GWAS) identified single nucleotide polymorphisms (SNPs), in particular those identified in the Asian population. Results Our analyses identified 1669 significant eQTLs (false discovery rate (FDR) < 0.05). We found that 41% of Asian eQTLs were also eQTLs in Caucasians at the genome-wide significance level (p=10−8). Both cis- and trans-eQTLs in the Asian population were also more likely to be eQTLs in Caucasians (p<10−4). Enrichment analyses revealed that trait-associated GWAS-SNPs were enriched within the eQTLs identified in our data, so were the GWAS-SNPs specifically identified in Asian populations in a separate analysis (p<0.001 for both). We also found that hepatic expression of very important pharmacogenetic (VIP) genes (n=44) and a manually curated list of major genes involved in pharmacokinetics (n=341) were both more likely to be controlled by eQTLs (p<0.002 for both). Conclusions Our study provided, for the first time, a comprehensive hepatic eQTL analysis in a non-European population, further generating valuable data for characterising the genetic basis of human diseases and pharmacogenetic traits. PMID:24665059

  4. Association of inflammatory gene polymorphisms with ischemic stroke in a Chinese Han population

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    Zhao Nan

    2012-07-01

    Full Text Available Abstract Background Inflammatory mechanisms are important in stroke risk, and genetic variations in components of the inflammatory response have been implicated as risk factors for stroke. We tested the inflammatory gene polymorphisms and their association with ischemic stroke in a Chinese Han population. Methods A total of 1,124 ischemic stroke cases and 1,163 controls were genotyped with inflammatory panel strips containing 51 selected inflammatory gene polymorphisms from 35 candidate genes. We tested the genotype-stroke association with logistic regression model. Results We found two single nucleotide polymorphisms (SNPs in CCL11 were associated with ischemic stroke. After adjusting for multiple testing using false discovery rate (FDR with a 0.20 cut-off point, CCL11 rs4795895 remained statistically significant. We further stratified the study population by their hypertension status. In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associated with increased risk of stroke. In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 and CCL11 rs4795895 were associated with ischemic stroke. After correction for multiple testing, CCR2 rs1799864 and CCR5 rs1799987 remained significant in the hypertensive group, and CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 remained significant in the non-hypertensive group. Conclusions Our results indicate that inflammatory genetic variants are associated with increased risk of ischemic stroke in a Chinese Han population, particularly in non-hypertensive individuals.

  5. Genetic association between NRG1 and schizophrenia, major depressive disorder, bipolar disorder in Han Chinese population.

    Science.gov (United States)

    Wen, Zujia; Chen, Jianhua; Khan, Raja Amjad Waheed; Song, Zhijian; Wang, Meng; Li, Zhiqiang; Shen, Jiawei; Li, Wenjin; Shi, Yongyong

    2016-04-01

    Schizophrenia, major depressive disorder, and bipolar disorder are three major psychiatric disorders affecting around 0.66%, 3.3%, and 1.5% of the Han Chinese population respectively. Several genetic linkage analyses and genome wide association studies identified NRG1 as a susceptibility gene of schizophrenia, which was validated by its role in neurodevelopment, glutamate, and other neurotransmitter receptor expression regulation. To further investigate whether NRG1 is a shared risk gene for major depressive disorder, bipolar disorder as well as schizophrenia, we performed an association study among 1,248 schizophrenia cases, 1,056 major depression cases, 1,344 bipolar disorder cases, and 1,248 controls. Totally 15 tag SNPs were genotyped and analyzed, and no population stratification was found in our sample set. Among the sites, rs4236710 (corrected Pgenotye  = 0.015) and rs4512342 (Pallele  = 0.03, Pgenotye  = 0.045 after correction) were associated with schizophrenia, and rs2919375 (corrected Pgenotye  = 0.004) was associated with major depressive disorder. The haplotype rs4512342-rs6982890 showed association with schizophrenia (P = 0.03 for haplotype "TC" after correction), and haplotype rs4531002-rs11989919 proved to be a shared risk factor for both major depressive disorder ("CC": corrected P = 0.009) and bipolar disorder ("CT": corrected P = 0.003). Our results confirmed that NRG1 was a shared common susceptibility gene for major mental disorders in Han Chinese population. © 2016 Wiley Periodicals, Inc. PMID:26888291

  6. Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    Hai-hui SHENG; Yun-lan DU; Jian SUN; Hua-sheng XIAO; Ai-ping ZENG; Wen-xiang ZHU; Ren-fang ZHU; Hong-mei LI; Zhi-dong ZHU; Ying QIN; Wei JIN; Yan LIU

    2007-01-01

    Aim: The human cytochrome P450 2D6 (CYP2D6) gene copy number variation, involving CYP2D6 gene deletion (CYP2D6*5) and duplication or multiduplication (CYP2D6*×N), can result in reduced or increased metabolism of many clinically used drugs. The identification of CYP2D6*5 and CYP2D6*×N and the investigation of their allelic distributions in ethnic populations can be important in deter-mining the right drug and dosage for each patient. Methods: The CYP2D6*5 andCYP2D6 genes, and CYP2D6 gene duplication were identified by 2 modified long PCR, respectively. To determine duplicated alleles, a novel long PCR was developed to amplify the entire duplicated CYP2D6 gene which was used as template for subsequent PCR amplification. A total of 363 unrelated Eastern Han Chinese individuals were analyzed for CYP2D6 gene copy number variation. Results: The frequency of CYP2D6*5 and CYP2D6*×N were 4.82% (n=35) and 0.69% (n=5) in the Eastern Han Chinese population, respectively. Of the 5 duplicated alleles, 3were CYP2D6*1×N and 2 were CYP2D6*10×N. One individual was a carrier of both CYP2D6*5 and CYP2D6*1×N. Taken together, the CYP2D6 gene rear-rangements were present in 10.74% of subjects. Conclusion: Allelic distributions of the CYP2D6 gene copy number variation differ among Chinese from different regions, indicating ethnic variety in Chinese. Long PCR are convenient, cost effective, specific and semiquantitative for the detection of the CYP2D6 gene copy number variation, and amplification of the entire duplicated CYP2D6 gene is necessary for the accurate identification of duplicated alleles.

  7. Correlation between human seizure-related gene 6 variants and idiopathic generalized epilepsy in a Southern Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Jianming Jiang; Zhenfang Du; Xianning Zhang; Xiaoling Chen; Wenting Liu; Yan Zhao; Yangtai Guan; Yan Han; Feng Wang; Jiajun Lu; Zhiliang Yu

    2012-01-01

    This study sought to analyze the genotype and gene mutations of human seizure-related gene 6 in 98 patients with idiopathic generalized epilepsy (non-febrile seizures), who were selected from three generations of the Chinese Han population living in Shanghai, Zhejiang Province, Wuxi of Jiangsu Province, and Jiangxi Province of Southern China. Twenty-six patients' parents were available as a first-degree relatives group and 100 biologically unrelated healthy controls were collected as the control group. Based on the age of onset and seizure type, the patients were divided into six subgroups. Polymerase chain reaction and DNA direct sequencing analysis showed that the most frequent mutations c.1249dupC (p.Gly418Argfx31) and c.1636A > G (p.Thr546Ala) were detected in some idiopathic generalized epilepsy patients and their asymptomatic first-degree relatives (30.6% vs. 19.2% and 11.2% vs. 26.9%). A novel mutation c.1807G > A (p.Val603Met) was found in a patient with late-onset idiopathic generalized epilepsy. There was no significant difference in the incidence of these three mutations among the different subgroups of idiopathic generalized epilepsy and controls. Thus, further analysis of a larger population is needed to confirm the assumption that human seizure-related gene 6 is a susceptibility gene for idiopathic generalized epilepsy with various sub-syndromes.

  8. Variants in ZNRD1 gene predict HIV-1/AIDS disease progression in a Han Chinese population in Taiwan.

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    Ying-Ju Lin

    Full Text Available Patients demonstrate notable variations in disease progression following human immunodeficiency virus (HIV infection. We aimed to identify ZNRD1 and RNF39 genetic variants linked to AIDS progression. We conducted a genetic association study in HIV-1-infected Han Chinese patients residing in Taiwan. The clinical characteristics of 143 HIV-1-infected patients were measured, and patients were split into 2 groups: AIDS progression and AIDS non-progression. Genotyping of ZNRD1 and RNF39 was performed in all participants. We found that patients in the AIDS progression group had higher HIV-1 viral loads and lower CD4 cell counts than did patients in the AIDS non-progression group. The frequency of the AA genotype of ZNRD1 (rs16896970 was lower in the AIDS progression group than in the AIDS non-progression group. Patients with AA genotypes had lower levels of HIV-1 viral loads and higher levels of CD4 cell counts than did patients with AG+GG genotypes. AIDS progression in patients with the AA group is significantly different from that in patients with the AG and GG groups by using Kaplan-Meier survival analysis. The hazard ratio for progression was lower in the AA group than in the AG and GG groups. We identified a SNP that contributes to AIDS progression in HIV-1-infected patients in this population. This SNP had a significant protective influence on AIDS progression, and polymorphisms of the ZNRD1 gene may play a role in the pathogenesis of HIV-1 infection.

  9. Associations of Polymorphisms in WNT9B and PBX1 with Mayer-Rokitansky-Kuster-Hauser Syndrome in Chinese Han.

    Directory of Open Access Journals (Sweden)

    Wenqing Ma

    Full Text Available Mayer-Rokitansky-Küster-Hauser (MRKH syndrome is a rare syndrome that is characterized by congenital aplasia of the uterus and the upper portion (2/3 of the vagina. Previous attempts to identify causal mutations of MRKH syndrome have primarily resulted in negative outcomes. We investigated whether these reported variants are associated with MRKH syndrome (types I and II in a relatively large sample size of Chinese Han patients, and whether any gene-gene epistatic interactions exist among these variants.This study included 182 unrelated Chinese women with MRKH syndrome (155 with type I and 27 with type II and 228 randomized female controls. Seventeen candidate loci in the AMH, PBX1, WNT4, WNT7A, WNT9B, HOXA10, HOXA11, LHXA1 and GALT genes were genotyped using the Sequenom MassARRAY iPLEX platform. Single-marker association, additive effects and multifactor interactions were investigated.The gene frequency distributions of MRKH type 1 and type 2 were similar. Rs34072914 in WNT9B was found to be associated with MRKH syndrome (P = 0.024, OR = 2.65, 95%CI = 1.14-6.17. The dominant models of rs34072914 and rs2275558 in WNT9B and PBX1, respectively, were significantly associated with MRKH syndrome risk in the Chinese Han patients. Additive gene-gene interaction analyses indicated a significant synergetic interaction between WNT9B and PBX1 (RERI = 1.397, AP = 0.493, SI = 4.204. Multifactor dimensionality reduction (MDR analysis revealed novel dimensional epistatic four-gene effects (AMH, PBX1, WNT7A and WNT9B in MRKH syndrome.This association study successfully identified two susceptibility SNPs (WNT9B and PBX1 associated with MRKH syndrome risk, both separately and interactively. The discovery of a four-gene epistatic effect (AMH, PBX1, WNT7A and WNT9B in MRKH syndrome provides novel information for the elucidation of the genetic mechanism underlying the etiology of MRKH syndrome.

  10. Association of tumor necrosis factor genetic polymorphism with chronic atrophic gastritis and gastric adenocarcinoma in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Bao-Ying Fei; Bing Xia; Chang-Sheng Deng; Xiao-Qing Xia; Min Xie; J Bart A Crusius; A Salvador Pena

    2004-01-01

    AIM: To investigate the association of TNF polymorphisms with chronic atrophic gastritis (CAG) and gastric adenocarcinoma in Chinese Han patients.METHODS: The TNFa-e 5 microsatellites and 3 RFLP sites were typed using PCR technique, followed by high-voltage denaturing PAGE with silver staining and restriction enzyme digestion respectively in specimens from 53 patients with CAG and 56 patients with gastric adenocarcinoma and 164 healthy controls. The PCR products were cloned and sequenced.RESULTS: The frequency of TNF-β Ncol*1/2 genotype was higher in patients with chronic atrophic gastritis than in healthy controls, but no significant difference was observed (60.38% vs 46.34%, P=0.076). The frequency of TNa10 allele was significantly higher in patients with chronic atrophic gastritis than in healthy controls (19.81% vs 11.89%,P=0.04). However, it did not relate to age, gender, atrophic degree or intestinal metaplasia in patients with chronic atrophic gastritis. The frequency of TNF-β Ncol*1/2 and d2/d6 genotypes were significantly higher in patients with gastric adenocarcinoma than in healthy individuals(P>0.05).However, TNF-β Ncol*1/2 and d2/d6 genotypes did not relate to age, gender, grade of differentiation and clinicopathologic stage in patients with gastric adenocarcinoma. The frequency of TNFa6b5c1 haplotype homozygote was significantly lower in patients with gastric adenocarcinoma than in healthy controls (1.79% vs15.85%, P=0.006).CONCLUSION: TNFa10 allele may be a risk factor for chronic atrophic gastritis. TNF-β Ncol*1/2 and d2/d6 genotypes are associated with the susceptibility to gastric adenocarcinoma,whereas TNFa6b5c1 haplotype homozygote may contribute to the resistance against gastric adenocarcinoma.

  11. Polymorphism of HLA-A,HLA-B and DRB1 alleles and haplotypes in Chinese northern Han patients with acute leukemia and chronic myeloid leukemia%中国北方汉族急性白血病和慢性粒细胞白血病患者HLA等位基因及单倍型研究

    Institute of Scientific and Technical Information of China (English)

    高素青; 卢亮; 方卫华; 金士正; 邹红岩; 卓家才; 李明; 程良红

    2008-01-01

    目的 研究中国北方汉族急性白血病(AL)和慢性粒细胞白血病(CML)患者人群中人类白细胞抗原HLA-A、B、DRB1等位基因和单倍型的分布差异.方法 根据1 270例中国北方汉族AL病患者和803例中国北方汉族CML患者的HLA-A、B、DRB1表型数据,采用最大似然性方法分别计算两个群体的HLA-A、B、DRB1等位基因和单倍型频率,并采用(2检验方法比较其分布差异.结果 两个患者群体中,A位点的A*02、A*03、A*24,B位点的B*37、B*38、B*44、B*45、B*46、B*50、B*51、B*52、B*54、B*60、B*65,DR位点的DRB1*03、DRB1*09、DRB1*10、DRB1*15等位基因的分布有统计学差异.在两个患者群体中有326条A-B单倍型,357条B-DRB1单倍型,1 278条A-B-DRB1单倍型为共有单倍型,其中7.1%(23/326)A-B单倍型,6.2%(22/357)B-DRB1单倍型,4.0%(51/1278)条A-B-DRB1单倍型有统计学差异(x2>3.84,P<0.05).结论 中国北方汉族AL和CML两个患者群体的HLA-A、B、DRB1等位基因和单倍型均具有高度遗传多态性,并有其自身遗传特征.%Objective To study the polymorphism of HLA-A,B,DRB1 alleles and haplotypes in Chinese northern Han patients with AL and CML.Methods The frequencies of HLA-A,B,DRB1 alleles and haplotypes were estimated by Expectation-Maximization method based on the phenotypes of 1 270 AL patients and 803 CML patients in Chinese northern Han,and then compared by chi-square test.Results The frequent of A*02,A*03,A*24,B*37,B*38,B*44,B*45,B*46,B*50,B*51,B*52,B*54,B*60,B*65,DRB1*03,DRB1*09,DRB1*10 and DRB1*15 alleles were different with statistically significant in both AL and CML patients in Chinese northern Han.326 HLA-A-B haplotypes,357 HLA-B-DRB1 haplotypes and 1 278 HLA-A-B-DRBl haplotypes were the common haplotype in the two groups of patients.7.1%(23/326)of HLA A-B haplotypes,6.2%(22/357)of HLA-B-DRB1 haplotypes and 4.0%(51/1278)of HLA-A-B DRB1 haplotypes were different with statistically significant in the two groups of patients

  12. Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China

    Science.gov (United States)

    Zhuang, Jing-Cong; Wu, Lei; Qian, Mei-Zhen; Cai, Ping-Ping; Liu, Qi-Bing; Zhao, Gui-Xian; Li, Zhen-Xin; Wu, Zhi-Ying

    2015-01-01

    Background: Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nerve system. Interleukin-7 (IL-7) and interleukin-7 receptor alpha (IL-7Rα) were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes. The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations. However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population. Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastern China. Methods: Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system) and Sanger sequencing were used to determine the variants of IL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China. Samples were excluded if the genotyping success rate <90%. Results: Statistical differences were observed in the genotypes of IL-7 rs1520333 in MS patients and IL-7RA rs6897932 in NMO patients, compared with healthy controls (P = 0.035 and 0.034, respectively). There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P = 0.014). And there were statistically significant differences in the rs6897932 genotypes (P = 0.004) and alleles (P = 0.042) between NMO-IgG positive patients and healthy controls. Conclusions: The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients. And the genotypic differences of IL-7 rs2887502 between

  13. Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China

    Directory of Open Access Journals (Sweden)

    Jing-Cong Zhuang

    2015-01-01

    Full Text Available Background: Neuromyelitis optica (NMO and multiple sclerosis (MS are autoimmune demyelinating diseases of the central nerve system. Interleukin-7 (IL-7 and interleukin-7 receptor alpha (IL-7Rα were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes. The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations. However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population. Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502 and one variant of IL-7RA (rs6897932 with NMO and MS among Chinese Han population in southeastern China. Methods: Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system and Sanger sequencing were used to determine the variants of IL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China. Samples were excluded if the genotyping success rate <90%. Results: Statistical differences were observed in the genotypes of IL-7 rs1520333 in MS patients and IL-7RA rs6897932 in NMO patients, compared with healthy controls (P = 0.035 and 0.034, respectively. There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P = 0.014. And there were statistically significant differences in the rs6897932 genotypes (P = 0.004 and alleles (P = 0.042 between NMO-IgG positive patients and healthy controls. Conclusions: The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932 was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333 with MS patients. And the genotypic differences of IL-7 rs2887502

  14. Variants of Interleukin-7/Interleukin-7 Receptor Alpha are Associated with Both Neuromyelitis Optica and Multiple Sclerosis Among Chinese Han Population in Southeastern China

    Institute of Scientific and Technical Information of China (English)

    Jing-Cong Zhuang; Lei Wu; Mei-Zhen Qian; Ping-Ping Cai; Qi-Bing Liu; Gui-Xian Zhao; Zhen-Xin Li

    2015-01-01

    Background: Neuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nerve system.Interleukin-7 (IL-7) and interleukin-7 receptor alpha (IL-7Rα) were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes.The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations.However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population.Here, we aimed to evaluate the association of six IL-7 variants (rs 1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastem China.Methods: Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system) and Sanger sequencing were used to determine the variants ofIL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China.Samples were excluded if the genotyping success rate <90%.Results: Statistical differences were observed in the genotypes ofIL-7 rs 1520333 in MS patients and IL-7RA rs6897932 in NMO patients,compared with healthy controls (P =0.035 and 0.034, respectively).There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P =0.014).And there were statistically significant differences in the rs6897932 genotypes (P =0.004) and alleles (P =0.042) between NMO-IgG positive patients and healthy controls.Conclusions: The study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients.And the genotypic differences ofIL-7 rs2887502 between MS and NMO

  15. Genetic association between selected cytokine genes and glioblastoma in the Han Chinese population

    International Nuclear Information System (INIS)

    Glioblastoma (GBM) is the most malignant brain tumor. Many abnormal secretion and expression of cytokines have been found in GBM, initially speculated that the occurrence of GBM may be involved in these abnormal secretion of cytokines. This study aims to detect the association of cytokine genes with GBM. We selected seven tag single nucleotide polymorphisms (tSNPs) in six cytokine genes, which previously reported to be associated with brain tumors, and analyzed their association with GBM in a Han Chinese population using χ2 test and genetic model analysis. We found two risk tSNPs and one protective tSNP. By χ2 test, the rs1801275 in IL-4R showed an increased risk of GBM. In the genetic model analysis, the genotype “TC” of rs20541 in IL-13 gene showed an increased risk of GBM in over-dominant model (OR = 2.00; 95% CI, 1.13-3.54, p = 0.015); the genotype “CT” of rs1800871 in the IL-10 gene showed a decrease risk in the over-dominant model (OR = 0.57; 95% CI, 0.33 – 0.97; p = 0.037). The genotype “AG” of rs1801275 in the IL-4R gene showed an increase risk in over-dominant model (OR = 2.29; 95% CI, 1.20 - 4.35; p = 0.0081) We further analyzed whether the six cytokine genes have a different effect on the disease in gender specific population, and found that the allele “G” of rs2243248 in the IL-4 gene showed a decrease risk of GBM in female (OR = 0.35, 95% CI, 0.13 - 0.94, p = 0.0032), but the allele “T” showed a decrease risk in male (OR = 0.30, 95% CI, 0.17 - 0.53, p = 0.0032). Our findings, combined with previously reported results, suggest that cytokine genes have potential role in GBM development, which may be useful to early prognostics for GBM in the Han Chinese population

  16. Population genetics of 17 Y-STR loci in a large Chinese Han population from Zhejiang Province, Eastern China.

    Science.gov (United States)

    Wu, Weiwei; Pan, Lipeng; Hao, Honglei; Zheng, Xiaoting; Lin, Jinfeng; Lu, Dejian

    2011-01-01

    Seventeen Y-STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635 and YGATAH4) were analyzed for 4451 Chinese Han unrelated males from Zhejiang Province, Eastern China, with the AmpFlSTR Yfiler™ PCR Amplification kit. A total of 3389 different haplotypes was identified, of which 2877 were unique and 512 repeatedly found among different individuals. The overall haplotype diversity (HD) and discrimination capacity (DC) were 0.999696 and 0.761402, respectively. Analysis of molecular variance (AMOVA) tests demonstrated that genetic distance between Zhejiang Han and most Chinese Han populations is closer than that between Zhejiang Han and non-Han populations. This study provides information for the application of Y-chromosomal STRs to forensic identification, indicating that the extended genotyping of Y-STRs is needed for forensic practice. PMID:20457064

  17. Gly71Arg UGT1A1 polymorphism is associated with breast cancer susceptibility in Han Chinese women.

    Science.gov (United States)

    Shi, J; Li, L H; Duan, X Y; Liu, Q; Sun, L L; Tian, Y T

    2016-01-01

    Breast cancer is among the most common causes of cancer-related death in women worldwide. Previous studies have demonstrated an association between prolonged estrogen exposure and increased risk of breast cancer. Uridine 5'-diphospho-glucuronosyltransferase 1-1 (UGT1A1) plays a significant role in the detoxification of estrogens. Two major genetic polymorphisms have been identified in the UGT1A1 locus. UGT1A1*28 has been previously linked to increased risk of breast cancer. The aim of this study was to elucidate the possible correlation between UGT1A1*6, a single nucleotide polymorphism causing a Gly71Arg substitution, and breast cancer susceptibility. Forty-six women diagnosed with breast cancer, 15 patients with gastrointestinal cancer, and 13 healthy women were recruited to this study. The genotype in the polymorphic UGT1A1 locus was determined by DNA sequencing. The frequency of each genotype was compared among the three groups. The frequency of the UGT1A1*6 allele was significantly higher in breast cancer and gastrointestinal cancer patients than that in healthy females (both P 0.05). Therefore, the UGT1A1*6 polymorphism was deduced to be a risk factor for breast cancer in women of Han Chinese ethnicity. UGT1A1 may serve as a therapeutic target for the prevention and treatment of breast cancer and other estrogen-related diseases. PMID:27525948

  18. Association analysis between HOXD9 genes and the development of developmental dysplasia of the hip in Chinese female Han population

    Directory of Open Access Journals (Sweden)

    Tian Wei

    2012-04-01

    Full Text Available Abstract Background Developmental dysplasia of the hip (DDH is a congenital or acquired deformation or misalignment of the hip joint which affects mainly females. We hypothesized that HOXD9 gene could be regulated in acetabular size or shape and related in DDH developing. Methods Two hundred and nine Chinese Han female DDH patients and 173 ethnic, age matched healthy female controls were genotyped for HOXD9 two tag SNPs using sequenom method. Results One of the two tag SNPs, rs711822, was not shown significantly differences in genotypic or allelic distribution between case and control group. Comparing the genotypic distribution of rs711819, there was significant differences between DDH patients group and control group (χ2 = 7.54, df =2, P =0.023, and the association to DDH developing reached significance (P =0.045, OR =1.79, 95 % CI: 1.01-3.17 by dominant mode. Conclusion In conclusion, the association between one tag SNP of HOXD9 gene and the development of DDH reach significant in our study population, this result indicate the positive correlation between HOXD9 gene and DDH developing. Further study in larger sample size and different population as well as functional studies will help to understand the pathogenesis of DDH.

  19. Replication of Han Chinese GWAS loci for schizophrenia via meta-analysis of four independent samples.

    Science.gov (United States)

    Xiao, Xiao; Li, Ming

    2016-04-01

    Schizophrenia is a highly heritable psychiatric disorder with unclear aetiology. Recent genome-wide association studies (GWAS) in European populations have reported numerous susceptibility variants, while GWAS in East Asians also identified several risk loci but with fewer independent replications. Here we focus on nine single nucleotide polymorphisms (SNPs) which have shown genome-wide significant associations with schizophrenia in previous Han Chinese GWAS, and we tend to replicate the associations in four independent samples of East Asian origin including a total of 3977 cases and 5589 controls. The results showed that rs10489202 in MPC2 (BRP44) is significantly associated with schizophrenia in these East Asian replication samples (one-tailed P=5.75×10(-3), OR=1.12), and further meta-analysis after including previous GWAS data yielded a genome-wide significant association (two-tailed P=1.11×10(-10), OR=1.19), adding further support for the involvement of this locus in the genetic risk of schizophrenia, and future studies regarding the underlying molecular mechanisms of the risk association are necessary. PMID:26899211

  20. The common variant rs11646213 is associated with preeclampsia in Han Chinese women.

    Directory of Open Access Journals (Sweden)

    Ji-peng Wan

    Full Text Available BACKGROUND: Preeclampsia, characterized by hypertension and proteinuria, is a multifactorial disease caused by complex interactions between environmental and genetic factors. A recent genome-wide association study of blood pressure reported an association between hypertension and rs11646213. This study evaluated the association between preeclampsia and rs11646213. METHODS: A total of 454 cases and 460 controls were recruited to participate in this study. The single nucleotide polymorphism (SNP rs11646213 was genotyped by polymerase chain reaction (PCR and direct sequencing. RESULTS: The allele frequency of rs11646213 was significantly different between the preeclampsia and control groups (P = 0.017, OR = 1.36, 95% CI = 1.06-1.76. Differences were particularly significant in the severe preeclampsia subgroup (P = 0.002, OR = 1.54, 95% CI = 1.17-2.03 and the early-onset preeclampsia subgroup (P = 0.004, OR = 1.57, 95% CI = 1.16-2.13. Genotyping analysis showed that the T allele of rs11646213 could confer a risk for preeclampsia, severe preeclampsia and early-onset preeclampsia. CONCLUSIONS: Rs11646213 upstream of the CDH13 gene is associated with preeclampsia in Han Chinese women.

  1. Mandibular incisive canal in Han Chinese using cone beam computed tomography.

    Science.gov (United States)

    Kong, N; Hui, M; Miao, F; Yuan, H; Du, Y; Chen, N

    2016-09-01

    The aim of this study was to provide reference information for implantology and chin bone harvesting in people of Han Chinese ethnicity by studying the mandibular incisive canal (MIC) using cone beam computed tomography (CBCT). Fifty subjects were included in the study. CBCT scans were obtained for all subjects, and 22 also underwent panoramic radiography to evaluate the visibility of the MIC. The CBCT data of the 50 subjects were reconstructed to measure MIC diameter, length, and location within the mandible. A MIC was identified in 38.6% of panoramic radiographs, with good clarity in 13.6%, while a MIC was identified in 100% of CBCT images, with good clarity in 63.6%. The diameter of the MIC decreased from origin to end. The left and right average MIC lengths were 17.84mm and 17.73mm, respectively. The MIC was close to the buccal cortical border and lower margin of the mandible. In conclusion, the MIC is an anatomical structure in the mandible that can be identified reliably with CBCT. On insertion, implants should be inclined slightly towards the lingual aspect of the anterior mandible to protect the MIC. The chin bone harvesting depth should be limited to 4mm; the harvesting site can be adjusted to the region above or below the MIC. PMID:27184354

  2. A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X with autism spectrum disorders in a Chinese Han cohort

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    Li Hui

    2011-05-01

    Full Text Available Abstract Background Synaptic genes, NLGN3 and NLGN4X, two homologous members of the neuroligin family, have been supposed as predisposition loci for autism spectrum disorders (ASDs, and defects of these two genes have been identified in a small fraction of individuals with ASDs. But no such rare variant in these two genes has as yet been adequately replicated in Chinese population and no common variant has been further investigated to be associated with ASDs. Methods 7 known ASDs-related rare variants in NLGN3 and NLGN4X genes were screened for replication of the initial findings and 12 intronic tagging single nucleotide polymorphisms (SNPs were genotyped for case-control association analysis in a total of 229 ASDs cases and 184 control individuals in a Chinese Han cohort, using matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF mass spectrometry. Results We found that a common intronic variant, SNP rs4844285 in NLGN3 gene, and a specific 3-marker haplotype XA-XG-XT (rs11795613-rs4844285-rs4844286 containing this individual SNP were associated with ASDs and showed a male bias, even after correction for multiple testing (SNP allele: P = 0.048, haplotype:P = 0.032. Simultaneously, none of these 7 known rare mutation of NLGN3 and NLGN4X genes was identified, neither in our patients with ASDs nor controls, giving further evidence that these known rare variants might be not enriched in Chinese Han cohort. Conclusion The present study provides initial evidence that a common variant in NLGN3 gene may play a role in the etiology of ASDs among affected males in Chinese Han population, and further supports the hypothesis that defect of synapse might involvement in the pathophysiology of ASDs.

  3. Tyrosinase gene mutations in the Chinese Han population with OCA1.

    Science.gov (United States)

    Liu, Ning; Kong, Xiang Dong; Shi, Hui Rong; Wu, Qing Hua; Jiang, Miao

    2014-01-01

    Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive genetic disorder that affects melanin synthesis. OCA results in reduced or absent pigmentation in the hair, skin and eyes. Type 1 OCA (OCA1) is the result of tyrosinase (TYR) gene mutations and is a severe disease type. This study investigated TYR mutations in a Chinese cohort with OCA1. This study included two parts: patient genetic study and prenatal genetic diagnosis. A total of 30 OCA1 patients were subjected to TYR gene mutation analysis. Ten pedigrees were included for prenatal genetic diagnosis. A total of 100 unrelated healthy Chinese individuals were genotyped for controls. The coding sequence and the intron/exon junctions of TYR were analysed by bidirectional DNA sequencing. In this study, 20 mutations were identified, four of which were novel. Of these 30 OCA1 patients, 25 patients were TYR compound heterozygous; two patients carried homozygous TYR mutations; and three were heterozygous. Among the ten prenatally genotyped fetuses, three fetuses carried compound heterozygous mutations and seven carried no mutation or only one mutant allele of TYR and appeared normal at birth. In conclusion, we identified four novel TYR mutations and showed that molecular-based prenatal screening to detect TYR mutations in a fetus at risk for OCA1 provided essential information for genetic counselling of couples at risk. PMID:25577957

  4. IL23R gene confers susceptibility to ankylosing spondylitis concomitant with uveitis in a Han Chinese population.

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    Hongtao Dong

    Full Text Available PURPOSE: The interleukin-23 receptor (IL-23R has been shown to be associated with ankylosing spondylitis (AS in many different populations. This study examined whether IL-23R polymorphisms were associated with susceptibility to this disease in a Chinese Han population. METHODS: Three single-nucleotide polymorphisms (SNP, rs7517847, rs11209032, and rs17375018, were genotyped in 291 AS patients and 312 age-, sex-, and ethnically matched healthy controls using a polymerase chain reaction (PCR restriction fragment length polymorphism (RFLP assay. RESULTS: The genotype and allele frequencies of rs17375018, rs7517847, and rs11209032 were not different between the patients with AS and the healthy controls. On the one hand, stratification analysis indicated that the rs17375018 GG genotype and the G allele were increased in AS patients who were HLA-B27 positive (corrected p = 0.024, odds ratio [OR] 2.35, 95% CI 1.30-4.24; p c = 0.006, OR 1.98, 95% CI 1.28-3.07, respectively. On the other hand, the analysis according to clinical characteristics showed a significantly increased prevalence of the homozygous rs17375018 GG genotype and the G allele in patients with AS and uveitis compared with the controls (p c = 0.024 and p c = 0.024, respectively. In addition, haplotype analysis performed with the SHEsis platform revealed no significant difference concerning the haplotypes between AS patients and healthy controls. CONCLUSIONS: In this study, the results suggested that the rs17375018 of IL23R was positively associated with HLA-B27-positive AS and that the rs17375018 GG of IL-23R was associated with AS concomitant with uveitis. We found no evidence for an association between the other two SNPs of IL-23R and AS.

  5. Cognitive impairments in first-episode drug-naive and chronic medicated schizophrenia: MATRICS consensus cognitive battery in a Chinese Han population.

    Science.gov (United States)

    Wu, Jing Qin; Chen, Da Chun; Tan, Yun Long; Xiu, Mei Hong; Yang, Fu De; Soares, Jair C; Zhang, Xiang Yang

    2016-04-30

    Cognitive deficits are a core feature of schizophrenia and we examined the cognitive profile of first-episode and chronic schizophrenia in a Chinese Han population using the MATRICS Consensus Cognitive Battery (MCCB). We recruited 79 first-episode drug-naïve (FEDN) schizophrenia, 132 chronic medicated schizophrenia inpatients and 124 healthy controls. We assessed patient psychopathology using the Positive and Negative Syndrome Scale (PANSS). MCCB total score (pEmotional Intelligence Test (MSCEIT) were significantly higher in FEDN than in chronic patients (all pMultiple regression analysis confirmed that in FEDN and chronic patients, total score and negative symptom of PANSS were independent contributors to MCCB total score, respectively. Our results not only demonstrate the applicability of the MCCB as a sensitive measure of cognitive impairment for schizophrenia patients in a Chinese Han population, but also suggest that the compromised cognition is present in the early stage of schizophrenia, some of which could be more severe in the chronic stage of illness. PMID:27086233

  6. Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population

    Institute of Scientific and Technical Information of China (English)

    Qi-Bing Liu; Lei Wu; Gui-Xian Zhao; Ping-Ping Cai; Zhen-Xin Li; Zhi-Ying Wu

    2015-01-01

    Background:Neuromyelitis optica (NMO) and multiple sclerosis (MS) are demyelinating disorders of the central nervous system.Interferon regulatory factor 5 (IRF5) is a common susceptibility gene to different autoimmune disorders.However,the association of IRF5 variants with NMO and MS patients has not been well studied.Therefore,we aimed to evaluate whether IRF5 variants were associated with NMO and MS in the Southeastern Han Chinese population.Methods:Four single nucleotide polymorphisms (SNPs) were selected and genotyped by matrix-assisted laser desorption/ionization time of flight mass spectrometry in 111 NMO patients,145 MS patients and 300 controls from Southeastern China.Results:None of these 4 SNPs was associated with NMO or MS patients.Conclusions:Our preliminary study indicates that genetic variants in IRF5 may affect neither NMO nor MS in the Southeastern Han Chinese population.Further studies with a large sample size and diverse ancestry populations are needed to clarify this issue.

  7. Association analysis of single nucleotide polymorphisms at five loci: comparison between atopic dermatitis and asthma in the Chinese Han population.

    Directory of Open Access Journals (Sweden)

    Hua-Yang Tang

    Full Text Available Atopic diseases, such as atopic dermatitis (AD and asthma, are closely related to clinical phenotypes with hypersensitivity, and often share some similar genetic and pathogenic bases. Our recent GWAS identified three susceptibility gene/loci FLG (rs11204971 and rs3126085, 5q22.1 (rs10067777, rs7701890, rs13360927 and rs13361382 and 20q13.33 (rs6010620 to AD. The effect of these AD associated polymorphisms in asthma is so far unknown. To investigate whether AD relevant genetic variants is identical to asthma and reveal the differences in genetic factors between AD and asthma in Chinese Han population, seven AD associated single nucleotide polymorphisms (SNPs as well as 3 other SNPs (rs7936562 and rs7124842 at 11q13.5 and rs4982958 at 14q11.2 from our previous AD GWAS were genotyped in 463 asthma patients and 985 controls using Sequenom MassArray system. We found rs4982958 at 14q11.2 was significantly associated with asthma (P = 3.04×10(-4, OR = 0.73. We also detected one significant risk haplotype GGGA from the 4 SNPs (rs10067777, rs7701890, rs13360927 and rs13361382 at 5q22.1 in AD cases (P(correction = 3.60×10(-10, OR = 1.26, and the haplotype was suggestive of risk in asthma cases in this study (P = 0.014, P(correction = 0.084, OR = 1.38. These SNPs (rs11204971, rs3126085, rs7936562, rs712484 and rs6010620 at AD susceptibility genes/loci FLG, 11q13.5 and 20q13.33 were not associated with asthma in this study. Our results further comfirmed that 14q11.2 was an important candidate locus for asthma and demonstrated that 5q22.1 might be shared by AD and asthma in Chinese Han population.

  8. Peripheral blood mitochondrial DNA content, A10398G polymorphism, and risk of breast cancer in a Han Chinese population.

    Science.gov (United States)

    Jiang, Huangang; Zhao, Hong; Xu, Hui; Hu, Liu; Wang, Wenbo; Wei, Yuehua; Wang, You; Peng, Xiaohong; Zhou, Fuxiang

    2014-06-01

    It has been reported that quantitative alterations and sequence variations of mtDNA are associated with the onset and progression of particular types of tumor. However, the relationship between mtDNA content, certain mtDNA polymorphisms in peripheral blood leukocytes and breast cancer risk remain obscure. This study was undertaken to investigate whether mtDNA content and the A10398G polymorphism in peripheral blood leukocytes could be used as risk predictors for breast cancer in Han Chinese women. Blood samples were obtained from a total of 506 breast cancer patients and 520 matched healthy controls. The mtDNA content was measured by using quantitative real-time PCR assay; A10398G polymorphism was determined by PCR-RFLP assay. There was no statistically significant difference between cases and controls in terms of peripheral blood mtDNA content or A10398G polymorphism. However, further analysis suggested that the risk of breast cancer was associated with decreased mtDNA content in premenopausal women (P = 0.001; odds ratio = 0.54; 95% confidence interval, 0.38-0.77), with increased mtDNA content in postmenopausal women (P = 0.027; odds ratio = 1.49; 95% confidence interval, 1.05-2.11). In addition, the associations between mtDNA content and several clinicopathological parameters of cases such as age, menopausal status, and number of pregnancies and live births were observed. This case-control study indicated that the peripheral blood mtDNA content might be a potential biomarker to evaluate the risk of breast cancer for selected Chinese women. PMID:24703408

  9. Positive Association Between Type 2 Diabetes Risk Alleles Near CDKAL1 and Reduced Birthweight in Chinese Han Individuals

    Directory of Open Access Journals (Sweden)

    Xiao-Fang Sun

    2015-01-01

    Conclusions: This study identified the association between type 2 diabetes risk variants in CDKAL1 and birthweight in Chinese Han individuals, and the carrier of risk allele within SRR had the trend of reduced birthweight. This demonstrates that there is a clear overlap between the genetics of type 2 diabetes and fetal growth, which proposes that lower birth weight and type 2 diabetes may be two phenotypes of one genotype.

  10. Positive Association Between Type 2 Diabetes Risk Alleles Near CDKAL1 and Reduced Birthweight in Chinese Han Individuals

    OpenAIRE

    Xiao-Fang Sun; Xin-Hua Xiao; Zhen-Xin Zhang; Ying Liu; Tao Xu; Xi-Lin Zhu; Yun Zhang; Xiao-Pan Wu; Wen-Hui Li; Hua-Bing Zhang; Miao Yu

    2015-01-01

    Background: Fetal insulin hypothesis was proposed that the association between low birth weight and type 2 diabetes is principally genetically mediated. The aim of this study was to investigate whether common variants in genes CDKAL1, HHEX, ADCY5, SRR, PTPRD that predisposed to type 2 diabetes were also associated with reduced birthweight in Chinese Han population. Methods: Twelve single nucleotide polymorphisms (rs7756992/rs10946398 in CDKAL1, rs1111875 in HHEX, rs391300 in SRR, rs175844...

  11. The relationship between polymorphisms in the promoter region of Tim-3 and unexplained recurrent spontaneous abortion in Han Chinese women

    OpenAIRE

    Shen, Yang; Wang, Chen; Hong, Dun; Zeng, Baojin; Fang, Congcheng; Yuan, Chiting; Fan, Lilong; Lv, Haiyan; Zhu, Min

    2013-01-01

    Background Recurrent spontaneous abortion (RSA) refers to 2 or more consecutive pregnancy losses, and RSA with unknown causes is called unexplained recurrent spontaneous abortion (URSA). Tim-3, a subtype of the T-cell immunoglobulin domain and mucin domain (Tim) protein family, might be an important regulatory molecule that plays a pivotal role in URSA, which might be triggered mostly by Th1/Th2 immune deviation. To understand the etiology and pathogenesis of URSA in Han Chinese women, we inv...

  12. Meta-analysis of association studies between five candidate genes and type 2 diabetes in Chinese Han population.

    Science.gov (United States)

    Jing, Chen; Xueyao, Han; Linong, Ji

    2012-10-01

    The multiple small-scale association studies of candidate genes for type 2 diabetes mellitus in the Chinese Han population have shown inconsistent results. Here, we performed a meta-analysis to evaluate the contribution of five candidate genes to the pathogenesis of type 2 diabetes in the Chinese Han population. We searched for relevant published papers and used STATA v.11.0 to perform a meta-analysis on six single-nucleotide polymorphisms in five genes-ADIPOQ-rs2241766 (SNP45) and -rs1501299 (SNP276), ADRB3-rs4994 (Trp64Arg), CAPN10-rs3792267 (SNP43), ENPP1-rs1044498 (K121Q), and PPARGC1A-rs8192678 (Gly482Ser)-in the Chinese Han population under an additive genetic model. The pooled odds ratios (95% confidence intervals and P-values) were 0.71 (0.60-0.83; P ADRB3-rs4994, 0.79 (0.57-1.10; P = 0.163) for CAPN10-rs3792267, 1.41 (1.13-1.76; P = 0.003) for ENPP1-rs1044498, and 1.54 (1.34-1.81; P ADRB3-rs4994, ENPP1-rs1044498, and PPARGC1A-rs8192678 (I² = 0.0, 43.4, and 23.3%, respectively). Under an additive genetic model, the C allele of ADRB3-rs4994, the C allele of ENPP1-rs1044498, and the A allele of PPARGC1A-rs8192678 increase the risk of type 2 diabetes in the Chinese Han population. PMID:22391941

  13. Association of Polymorphisms in STRA6 and RARRES2 Genes with Type 2 Diabetes in Southern Han Chinese

    Science.gov (United States)

    Liang, Bi-Yu; Li, Yun-Xi

    2016-01-01

    Stimulated by retinoic acid gene homolog 6 (STRA6) and retinoic acid receptor responder 2 (RARRES2) are candidate genes involved in the pathogenesis of type 2 diabetes mellitus (T2DM). Three tag-SNPs in STRA6 and one in RARRES2 gene were selected and genotyped with TaqMan or PCR-RFLP method in 603 populations (571 patients with T2D versus 632 control subjects) in Southern Han Chinese. We estimated the interactions between T2DM risk and genetic variants in the STRA6 and RARRES2 genes using polymerase chain reaction. Rs736118 in STRA6 gene were significantly associated with T2DM occurrence in the recessive genetic model. The genotype of rs974456 was significantly associated with T2DM in the dominant genetic model correlated to sex, MBI, and triglyceride. However, the association of other SNPs with T2DM was not found. Furthermore, smoking history and other factors may be independent risk factors for the incidence of T2DM. This study suggested that a role of STRA6 polymorphism could also be of value in predicting the risk of T2DM while RARRES2 polymorphism could not predict the risk of T2DM. PMID:27446956

  14. SLC26A4 gene polymorphism and late-onset Alzheimer's disease in a Han Chinese population from Qingdao,China

    Institute of Scientific and Technical Information of China (English)

    Jifang Zhang; Yantuan Li

    2013-01-01

    In a recent genome-wide association study, the SLC26A4 gene rs2072064 polymorphism was found to be associated with late-onset Alzheimer's disease in Caucasians. Here, we investigated this association in a large Northern Han Chinese cohort consisting of 599 sporadic late-onset Alzheimer's disease patients and 598 healthy controls matched for sex and age in a Northern Han Chinese population from Qingdao, China. Genotyping by the polymerase chain reaction-ligase detection reaction revealed that there were significant differences in the genotype (P = 0.017) and allele (P = 0.007) frequencies of the rs2072064 polymorphism between late-onset Alzheimer's disease patients and controls. The A allele of this polymorphism was significantly associated with a reduced risk of late-onset Alzheimer's disease (odds ratio (OR) = 0.792, 95% confidence interval (CI) = 0.670–0.937, P = 0.007). When the data were stratified by the apolipoprotein E ε4 status, there was a significant difference only among apolipoprotein E ε4 non-carriers (genotypic P = 0.001, allelic P = 0.001). Furthermore, the association between rs2072064 and late-onset Alzheimer's disease remained significant by logistic regression analysis after adjustment for age, gender, and the apolipoprotein E ε4 carrier status (dominant model: OR = 0.787, 95% CI = 0.619–1.000, P = 0.050; recessive model: OR = 0.655, 95% CI = 0.448–0.959, P = 0.030; additive model: OR = 0.792, 95% CI = 0.661–0.950, P = 0.012). These findings suggest that SLC26A4 is a susceptibility gene for late-onset Alzheimer's disease in a Northern Han Chinese population from the Qingdao area.

  15. Haplotype diversity of 17 Y-STR loci in a Chinese Han population sample from Shanxi Province, Northern China.

    Science.gov (United States)

    Bai, Rufeng; Zhang, Zhong; Liang, Quanzeng; Lu, Di; Yuan, Li; Yang, Xue; Shi, Mei sen

    2013-01-01

    The distribution of 17 Y-chromosome STR loci DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y-GATA-H4, DYS437, DYS438, and DYS448 haplotypes was determined in a population sample of 222 unrelated Chinese Han from Shanxi Province, Northern China. A total of 219 haplotypes were observed, and of these, 216 were unique, while 3 were found two times. The overall haplotype diversity was 0.9999 and the discrimination capacity was 0.9865, indicating a high potential for differentiating between male individuals in this population. Comparison analysis via Analysis of Molecular Variance (AMOVA) and construction of MDS plot revealed that Shanxi Han sample clusters with Chinese origin populations and stands far apart of the non-Chinese populations, justifying the establishment of local databases in Shanxi Han population for any future forensic and genetic epidemiology efforts in this region. PMID:23116721

  16. ABCB1, ABCC2, SCN1A, SCN2A, GABRA1 gene polymorphisms and drug resistant epilepsy in the Chinese Han population.

    Science.gov (United States)

    Zhou, Luo; Cao, Yuze; Long, Hongyu; Long, Lili; Xu, Lin; Liu, Zhaoqian; Zhang, Ying; Xiao, Bo

    2015-06-01

    Drug resistance is common in epilepsy despite multiple available medications. Single nucleotide polymorphisms (SNP) may influence drug efficacy in epilepsy. We therefore aimed to clarify the association between polymorphisms of several controversial SNP loci and drug resistance in Chinese Han epilepsy patients from central China. Among all the 391 recruited subjects, 235 and 156 patients were classified into a drug responsive and resistant group, respectively, according to the definition of drug resistance proposed by the International League Against Epilepsy. The candidate SNP loci, including ATP-binding cassette (ABC) subfamily gene ABCB1 rs2032582 and rs1045642; ABC subfamily gene ABCC2 rs717620 and rs2273697; sodium channel subunit gene SCN1A rs3812718, SCN2A rs2304016; γ-amino butyric acid type A (GABAA) receptor subunit subtype gene GABRA1 rs2279020 were genotyped following the Illumina protocols. There were no significant differences in allelic or genotypic frequencies between the drug responsive and resistant patients. The polymorphisms of the above SNP loci may not be associated with drug resistance of epilepsy in the Chinese Han population. PMID:26189305

  17. Network-assisted analysis of primary Sjögren's syndrome GWAS data in Han Chinese.

    Science.gov (United States)

    Fang, Kechi; Zhang, Kunlin; Wang, Jing

    2015-01-01

    Primary Sjögren's syndrome (pSS) is a complex autoimmune disorder. So far, genetic research in pSS has lagged far behind and the underlying biological mechanism is unclear. Further exploring existing genome-wide association study (GWAS) data is urgently expected to uncover disease-related gene combination patterns. Herein, we conducted a network-based analysis by integrating pSS GWAS in Han Chinese with a protein-protein interactions network to identify pSS candidate genes. After module detection and evaluation, 8 dense modules covering 40 genes were obtained for further functional annotation. Additional 31 MHC genes with significant gene-level P-values (sigMHC-gene) were also remained. The combined module genes and sigMHC-genes, a total of 71 genes, were denoted as pSS candidate genes. Of these pSS candidates, 14 genes had been reported to be associated with any of pSS, RA, and SLE, including STAT4, GTF2I, HLA-DPB1, HLA-DRB1, PTTG1, HLA-DQB1, MBL2, TAP2, CFLAR, NFKBIE, HLA-DRA, APOM, HLA-DQA2 and NOTCH4. This is the first report of the network-assisted analysis for pSS GWAS data to explore combined gene patterns associated with pSS. Our study suggests that network-assisted analysis is a useful approach to gaining further insights into the biology of associated genes and providing important clues for future research into pSS etiology. PMID:26686423

  18. High resolution human leukocyte antigen class I allele frequencies and HIV-1 infection associations in Chinese Han and Uyghur cohorts.

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    Yanhou Liu

    Full Text Available BACKGROUND: Host immunogenetic factors such as HLA class I polymorphism are important to HIV-1 infection risk and AIDS progression. Previous studies using high-resolution HLA class I profile data of Chinese populations appeared insufficient to provide information for HIV-1 vaccine development and clinical trial design. Here we reported HLA class I association with HIV-1 susceptibility in a Chinese Han and a Chinese Uyghur cohort. METHODOLOGY/PRINCIPAL FINDINGS: Our cohort included 327 Han and 161 Uyghur ethnic individuals. Each cohort included HIV-1 seropositive and HIV-1 seronegative subjects. Four-digit HLA class I typing was performed by sequencing-based typing and high-resolution PCR-sequence specific primer. We compared the HLA class I allele and inferred haplotype frequencies between HIV-1 seropositive and seronegative groups. A neighbor-joining tree between our cohorts and other populations was constructed based on allele frequencies of HLA-A and HLA-B loci. We identified 58 HLA-A, 75 HLA-B, and 32 HLA-Cw distinct alleles from our cohort and no novel alleles. The frequency of HLA-B*5201 and A*0301 was significantly higher in the Han HIV-1 negative group. The frequency of HLA-B*5101 was significantly higher in the Uyghur HIV-1 negative group. We observed statistically significant increases in expectation-maximization (EM algorithm predicted haplotype frequencies of HLA-A*0201-B*5101 in the Uyghur HIV-1 negative group, and of Cw*0304-B*4001 in the Han HIV-1 negative group. The B62s supertype frequency was found to be significantly higher in the Han HIV-1 negative group than in the Han HIV-1 positive group. CONCLUSIONS: At the four-digit level, several HLA class I alleles and haplotypes were associated with lower HIV-1 susceptibility. Homogeneity of HLA class I and Bw4/Bw6 heterozygosity were not associated with HIV-1 susceptibility in our cohort. These observations contribute to the Chinese HLA database and could prove useful in the

  19. Variants of Interferon Regulatory Factor 5 are Associated with Neither Neuromyelitis Optica Nor Multiple Sclerosis in the Southeastern Han Chinese Population

    Directory of Open Access Journals (Sweden)

    Qi-Bing Liu

    2015-01-01

    Conclusions: Our preliminary study indicates that genetic variants in IRF5 may affect neither NMO nor MS in the Southeastern Han Chinese population. Further studies with a large sample size and diverse ancestry populations are needed to clarify this issue.

  20. Case-control association study of ABCB1 gene and major depressive disorder in a local Chinese Han population

    Directory of Open Access Journals (Sweden)

    Xie WW

    2015-08-01

    Full Text Available Wei-Wei Xie,1,2* Lin Zhang,1* Ren-Rong Wu,1 Yan Yu,3 Jing-Ping Zhao,1 Le-Hua Li1 1Mental Health Institute of the Second Xiangya Hospital, National Technology Institute of Psychiatry, Key Laboratory of Psychiatry and Mental Health of Hunan Province, Central South University, Changsha, Hunan, 2Department of Psychiatry, Ningbo Kangning Hospital, Ningbo, 3People’s Hospital of Hunan Province, Changsha, People’s Republic of China *These authors contributed equally to this work Background: Human P-glycoprotein encoded by the ATP-binding cassette sub-family B member 1 (ABCB1 gene is expressed in the blood–brain barrier. ABCB1 protects the brain from many drugs and toxins such as glucocorticoids through the efflux pump. Recent evidence suggests that a specific allele of the ABCB1 gene confers susceptibility to major depressive disorder (MDD in the Japanese population. The aim of this study was to explore the association of ABCB1 gene polymorphisms with MDD in a local Chinese Han population.Methods: Two hundred and ninety-two MDD patients and 208 unrelated individuals were matched by age and sex and examined using a case-control design. Six single nucleotide polymorphisms (SNPs of the ABCB1 gene, including rs1045642, rs2032583, rs2032582, rs2235040, rs1128503, and rs2235015, were genotyped by ligase detection reaction and multiplex polymerase chain reaction. Linkage disequilibrium and haplotype analysis were investigated in the two study groups. Results: Significant protection for MDD individuals carrying the TG haplotype of rs1045642–rs2032582 was observed (odds ratio 0.470, 95% confidence interval 0.251–0.897, P=0.01.The rs2032582 (G2677T and rs1128503 (C1236T SNPs of ABCB1 showed nominal associations with MDD; the other four SNPs of the ABCB1 gene were not associated with MDD.Conclusion: Chinese individuals carrying the TG haplotype of rs1045642–rs2032582 had a nearly 53% lower risk of developing MDD. To the best of our

  1. Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai-Tibetan Plateau.

    Science.gov (United States)

    Chen, Yu; Jiang, Chunhua; Luo, Yongjun; Liu, Fuyu; Gao, Yuqi

    2016-03-01

    High altitude polycythemia (HAPC) is a serious public health problem among Han Chinese immigrants to the Qinghai-Tibetan Plateau. This study aims to explore the genetic basis of HAPC in the Han Chinese population. 484 male subjects (234 patients and 250 controls) were enrolled in this study. Genotyping was performed for polymorphisms of I/D in ACE, C1772T and G1790A in exon 12 of HIF-1α, rs2567206 in CYP1B1, rs726354 in SENP1, rs3025033 in VEGFA, rs7251432 in HAMP, rs2075800 in HSPA1L and rs8065364 in CARD14. Gene-gene interaction was assessed by multifactor dimensionality reduction. A significant association was seen between CARD14 polymorphism rs8065364 and risk of HAPC development in male Han Chinese, and the C allele of rs8065364 was a risk factor (odds ratio (OR)=1.59, 95% confidence interval (95% CI)=1.21-2.08). Gene-gene interaction analysis indicated that a synergistic relationship existed between rs3025033 and rs8065364 (1.00%), rs3025033 and rs726354 (0.18%), and rs726354 and rs8065364 (0.17%). The combination of rs8065364 in CARD14, rs3025033 in VEGFA and rs726354 in SENP1 was the best model to predict HAPC development in this study (testing accuracy=0.6183, p=0.0010, cross-validated consistency=10/10). Genetic interactions of SNPs in CARD14, SENP1 and VEGFA might represent a functional mechanism in the pathogenesis of HAPC. PMID:26852650

  2. Association of the p22phox polymorphism C242T with the risk of late-onset Alzheimer's disease in a northern Han Chinese population.

    Science.gov (United States)

    Fu, Qingxi; Qi, Faying; Tian, Fengyun; Ma, Guozhao; Che, Fengyuan; Du, Yifeng; Gao, Naiyong

    2016-07-01

    The C242T polymorphism of the CYBA gene that encodes p22phox, a component of nicotinamide adenine dinucleotide phosphate oxidase, has been found to modulate reactive oxygen species (ROS) production. Oxidative stress is thought to play a pivotal role in the pathophysiology of Alzheimer's disease (AD), which is manifested as increased availability of ROS because of an imbalanced redox state. Therefore, the aim of this study was to investigate potential associations of the p22phox C242T polymorphism with the risk of late-onset AD (LOAD) in a northern Han Chinese population. Patients with LOAD (n = 276) and 320 control subjects were recruited for the study. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes. No significant differences were found between LOAD and p22phox C242T polymorphism, but a significant association was obtained in the genotype and allele distributions of p22phox C242T between LOAD patients and controls in apolipoprotein E (ApoE) ϵ4 carriers. These results suggested that p22phox C242T polymorphism has a possible role in changing the genetic susceptibility to LOAD in ApoE ϵ4 carriers of this northern Han Chinese population. PMID:26000926

  3. Association Between LYPLAL1 rs12137855 Polymorphism With Ultrasound-Defined Non-Alcoholic Fatty Liver Disease in a Chinese Han Population

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    Yuan

    2015-12-01

    Full Text Available Background Recent genome-wide association studies (GWAS identified that gene Lysophospholipase-like 1 (LYPLAL1 rs12137855 associated with non-alcoholic fatty liver disease (NAFLD. No research has been performed regarding the association between LYPLAL1 and NAFLD in China. Objectives The aim of the present study was to investigate the association between the gene LYPLAL1 rs12137855 and NAFLD, and the effect on serum lipid profiles in a Chinese Han population. Patients and Methods LYPLAL1 rs12137855 gene was genotyped in 184 patients with NAFLD and 114 healthy controls using sequencing and polymerase chain reaction analysis (PCR. We tested serum lipid profiles using biochemical methods. Results No significant differences in genotype and allele frequencies of LYPLAL1 rs12137855 was found between the NAFLD group and the controls group (P > 0.05. Subjects with the variant LYPLAL1 rs12137855 CC genotype had a higher mean weight, body mass index (BMI and low density lipoprotein (LDL. Conclusions Our results showed for the first time that LYPLAL1 gene is not associated with a risk of NAFLD development in the Chinese Han population. The variant carriers of overall subjects significantly increased weight, BMI and LDL.

  4. The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma

    Indian Academy of Sciences (India)

    Xiao-Ping Qi; Rong-Xin Zhang; Jin-Lin Cao; Zhen-Guang Chen; Hang-Yang Jin; Ren-Rong Yang

    2014-06-01

    We report intracellular RET mutation in a Han Chinese pedigree with familial medullary thyroid carcinoma (FMTC). Direct sequencing of RET proto-oncogene identified a missense c.2671T > G (p.S891A) mutation in 6 of 14 family members. The single nucleotide polymorphisms c. 135A > G (p.A45A), IVS4+48A >G, c. 1296A > G (p.A432A), c. 2071G > A (p.G691S), c. 2307T > G (p.L769L) and a variant c. 833C > A (p.T278N) were also found in 6 carriers. Among 5 of the 6 carriers presented medullary thyroid carcinoma (MTC) as an isolated clinical phenotype, with elevated basal serum calcitonin (Ct). Two underwent non-normative thyroidectomy either two or four times without physician awareness or diagnosis of this disease at initial treatment, but with elevated Ct. One with elevated pre-Ct accepted total thyroidectomy (TT) with modified bilateral neck dissection (MBiND), and whose seventh posterior rib MTC metastases was confirmed 5 months after surgery. Moreover, results of two affected individuals with elevated Ct were reduced to normal after TT with MBiND or prophylactic VI compartmental dissection. However, only another carrier with the variant p.T278N had slightly elevated Ct rejected surgery and was strictly monitored. Given these case results, we suggest that screening of RET and pre-surgical Ct levels in the management of MTC patients is essential for earlier diagnosis and more normative initial treatment, that FMTC patients with cervical lymph nodes metastases may be cured by TT with MBiND, and that prophylactic VI compartmental dissection should be avoided when Ct levels are low.

  5. Genotyping for Kidd, Kell, Duffy, Scianna, and RHCE blood group antigens polymorphisms in Jiangsu Chinese Han

    Institute of Scientific and Technical Information of China (English)

    LIU Zhong; ZHANG Xue-guang; ZENG Rong; CHEN Qing; LI Min; SHI Guang-yao; WEI Peng; HUANG Cheng-yin; TANG Rong-cai; SUN Jun

    2012-01-01

    Background Molecular testing is more precise compared to serology and has been widely used in genotyping blood group antigens.Single nucleotide polymorphisms (SNPs) of blood group antigens can be determined by the polymerase chain reaction with sequence specific priming (PCR-SSP) assay.Commercial high-throughput platforms can be expensive and are not approved in China.The genotype frequencies of Kidd,Kell,Duffy,Scianna,and RhCE blood group antigens in Jiangsu province were unknown.The aim of this study is sought to detect the genotype frequencies of Kidd,Kell,Duffy,Scianna,and RhCE antigens in Jiangsu Chinese Han using molecular methods with laboratory developed tests.Methods DNA was extracted from EDTA-anticoagulated blood samples of 146 voluntary blood donors collected randomly within one month.Standard serologic assay for red blood cell antigens were also performed except the Scianna blood group antigens.PCR-SSP was designed to work under one PCR program to identify the following SNPs:JK1/JK2,KEL 1/KEL2,FYA/FYB,SC1/SC2,C/c and E/e.Results Serologic antigen results were identical to the phenotypes that were predicted from genotyping results.The allele frequencies for Jk*01 and Jk*02 were 0.51 and 0.49,respectively; for Fy*A and Fy*B 0.94 and 0.06; for RHCE*C and RHCE*c 0.68 and 0.32; and for RHCE*E and RHCE*e 0.28 and 0.72.Among 146 blood donors,all were KEL*02/KEL*02 and SC*01/SC*01,indicating allele frequencies for KEL*02 and SC*01 close to 1.00.Conclusions The use of PCR-SSP working under the same condition for testing multiple antigens at the same time is practical.This approach can be effective and cost-efficient for small-scale laboratories and in developing counties.These molecular tests can be also used for identifying rare blood types.

  6. Involvement of tryptophan hydroxylase 2 gene polymorphisms in susceptibility to tic disorder in Chinese Han population

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    Zheng Ping

    2013-01-01

    Full Text Available Abstract Background Tryptophan hydroxylase-2 (TPH2 is a potential candidate gene for screening tic disorder (TD. Methods A case–control study was performed to examine the association between the TPH2 gene and TD. The Sequenom® Mass ARRAY iPLEX GOLD System was used to genotype two single nucleotide polymorphisms (SNPs of the TPH2 gene in 149 TD children and in 125 normal controls. Results For rs4565946, individuals with the TT genotype showed a significantly higher risk of TD than those with TC plus CC genotypes [odds ratio (OR =3.077, 95% confidence interval (CI: 1.273–7.437; P = 0.009], as did male TD children with the TT genotype (OR = 3.228, 95% CI: 1.153–9.040; P = 0.020. The G allele of rs4570625 was significantly more frequent in TD children with higher levels of tic symptoms (Yale Global Tic Severity Scale, YGTSS than those in controls among the male children (OR = 1.684, 95%: 1.097–2.583; P = 0.017]. TD children with severe tic symptoms had significantly higher frequencies of rs4546946 TT genotype than did normal controls in boys (OR = 3.292, 95% CI: 1.139–9.513; P = 0.022. We also found that genotype distributions of both SNPs were different between the Asian and European populations. Conclusions Our results indicated that the TT genotype of rs4565946 is a potential genetic risk factor for TD, and the allele G of rs4570625 might be associated with the severity of tic symptoms in boys. These polymorphisms might be susceptibility loci for TD in the Chinese Han population. Because of the confounding of co-existing attention deficit hyperactivity disorder (ADHD,these findings need to be confirmed by studies in much larger samples.

  7. Lack of association between four SNPs in the SLC22A3-LPAL2-LPA gene cluster and coronary artery disease in a Chinese Han population: a case control study

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    Lv Xiaofei

    2012-10-01

    Full Text Available Abstract Background Lipoprotein (a (Lp [a] is known being correlated with coronary artery disease (CAD. The SLC22A3-LPAL2-LPA gene cluster, relating with modulating the level of plasma Lp (a, has recently been reported to be associated with CAD in Caucasians. The purpose of this study was to verify whether this finding can be expanded to the Chinese Han population. Methods and Results Using a Chinese Han sample, which consisted of 1012 well-characterized CAD patients and 889 healthy controls, we tested the associations of four SNPs (rs2048327, rs3127599, rs7767084 and rs10755578 in the SLC22A3-LPAL2-LPA gene cluster, and their inferred haplotypes with the risk of CAD. Allelic, genotypic and haplotype association analyses all showed that the gene cluster was not associated with CAD in this Chinese Han sample. Conclusions We for the first time explored the association of the four SNPs in the SLC22A3-LPAL2-LPA gene cluster with CAD in a large Chinese Han sample. Nevertheless, this study did not reveal any significant evidence of this gene cluster to increase the risk of CAD in this population.

  8. -94 G/A polymorphism in the dopamine D1 receptor gene is associated with schizophrenia in a Chinese Han population from Shandong province

    Institute of Scientific and Technical Information of China (English)

    Zhaoyun Du; Guangxin Wang; Yuebing Zhang; Yiren Cheng; Chuanan Zhu

    2011-01-01

    The correlation between-94 G/A polymorphism in the dopamine D1 receptor gene and schizophrenia remains poorly understood despite extensive research.This study sought to evaluate the genotypes and allele frequencies of the-94 G/A polymorphism in the dopamine D1 receptor gene by real-time PCR using TaqMan fluorescent probes.One hundred and sixty-two patients with schizophrenia and 101 healthy controls living in Shandong province of China were evaluated.Experimental results showed that the G/A genotype distribution was significantly higher in the schizophrenia patients than in healthy controls.The frequencies of G allele and A allele were not significantly different between the schizophrenia patients and the controls.Thus,the-94 G/A polymorphism in the dopamine D1 receptor gene was found to be associated with schizophrenia in a Chinese Han population from Shandong province.

  9. Association of HLA-DQ with Idiopathic Dilated Cardiomyopathy in a Northern Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    WeiLiu; WeiminLi; NinglingSun

    2004-01-01

    Autoimmune mechanisms are likely involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC) and components of MHC may serve as markers for the propensity to develop immune-mediated myocardial damage. This study was conducted to investigate the possible association between HLA-DQA1, -DQB1 alleles and IDC in Han population from northern China by using PCR-based sequence-specific primer (PCR-SSP) technique for HLA genotyping. Among 68 unrelated IDC patients, 4 probands of IDC pedigrees and 100 healthy controls, we found that the alleles of HLA-DQAI*0501 and HLA-DQBI*0303 conferred susceptibility to IDC while HLA-DQAI*0201 and HLA-DQBI*0502, *0504 alleles were in negative association with IDC. The serine at position 57 (SERs7) in the exon of HLA-DQBI*0502 and *0504 was confirmed in our experiment as a marker for resistance to IDC. The results suggest that HLA-DQ polymorphism may be involved in the pathogenesis of IDC. Cellular & Molecular Immunology.

  10. Association of HLA-DQ with Idiopathic Dilated Cardiomyopathy in a Northern Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    Wei Liu; Weimin Li; Ningling Sun

    2004-01-01

    Autoimmune mechanisms are likely involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC) and components of MHC may serve as markers for the propensity to develop immune-mediated myocardial damage. This study was conducted to investigate the possible association between HLA-DQA1, -DQB1 alleles and IDC in Han population from northern China by using PCR-based sequence-specific primer (PCR-SSP) technique for HLA genotyping. Among 68 unrelated IDC patients, 4 probands of IDC pedigrees and 100 healthy controls, we found that the alleles of HLA-DQA1*0501 and HLA-DQB1*0303 conferred susceptibility to IDC while HLA-DQA1*0201 and HLA-DQB1*0502, *0504 alleles were in negative association with IDC. The serine at position 57 (SER57) in the exon of HLA-DQB1*0502 and *0504 was confirmed in our experiment as a marker for resistance to IDC. The results suggest that HLA-DQ polymorphism may be involved in the pathogenesis of IDC.

  11. Perilipin Gene 1237 T>C Polymorphism is not Associated with Obesity Risk in Northern Chinese Han Adults

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    DONG-SHENG HU; JING XIE; DA-HAI YU; GUO-HENG XU; JIE LU; JIN-XIU YANG; CHUN-YANG LI; YAN-YAN LI

    2009-01-01

    Objective To identify the association between PLIN 1237 polymorphism and obesity in Chinese Han adults. Methods A total of 994 adults (157 obese subjects, 322 overweight subjects, and 515 normal controls) were recruited from two rural communities. PLIN 1237 polymorphism was genotyped by polymerase chain reaction-restriction-fragment-length-polymorphism (PCR-RFLP). Association between PLIN polymorphisms and obesity status was estimated by ordinal logistic regression. Results The three genotypes of PLIN 1237 were detected with a percentage of 54.3%, 37.1%, and 8.6% in TT, TC, and CC genotypes, respectively. For the PLIN 1237 polymorphism locus, the frequency of alleles T and C was 0.73 and 0.27, respectively. The PLIN 1237 polymorphisms were in Hardy-Weinberg equilibrium. PLIN 1237 polymorphism was not associated with obesity. The odds ratio for overweight or obesity for the CC+TC genotype was 0.8 (0.4, 1.4) in women (P=0.4) and 0.6 (0.3, 1.3) in men (P=0.2) after adjustment for age, education, household income and alcohol consumption, smoking, and physical activity. Conclusion Chinese Han adults have a lower frequency of variant-allele C in PLIN 1237. PLIN 1237 T>C polymorphism is not significantly associated with obesity in northern Chinese adults.

  12. Genetic Variation in miR-146a Is Not Associated with Susceptibility to IgA Nephropathy in Adults from a Chinese Han Population.

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    Bin Yang

    Full Text Available MicroRNA 146a (miR-146a is a 19 to 23 nucleotide long, small non-coding RNA with gene regulatory functions that has influence on the pathogenesis of many diseases. A single nucleotide polymorphism (rs2910164 C>G in pre-miR-146a is correlated with the expression of miR-146a. The aim of this study was to perform an association analysis of rs2910164 with IgA nephropathy in adult patients from a Chinese Han population.A total of 145 patients with renal biopsy-proved IgA nephropathy (IgAN and 179 healthy controls were recruited to the current study. rs2910164 was genotyped by the polymerase chain reaction (PCR and high-resolution melting methods (HRM. Clinical characteristics and pathology grading of patients with IgAN were recorded at the time of kidney biopsy.There were significant differences among the population of patients grouped by different age of onset in a co-dominant model (CG vs. CC vs. GG (p = 0.033 and a recessive model (CG+CC vs. GG (p = 0.001. However, no significant difference was observed in the distribution of genotypes between cases and controls (p = 0.144. There was also no significant difference between rs2910164 and patient quantitative traits (all p > 0.003 or different pathology grading (Lee's grading system and tubular atrophy/interstitial fibrosis in the Oxford classification (all p > 0.05.There was no association of rs2910164 with susceptibility to IgAN in adults from a Chinese Han population. However, rs2910164 was correlated with the age of onset of IgAN in adult patients.

  13. Association Between Promoter Polymorphisms of the GRP78 Gene and Risk of Type 2 Diabetes in a Chinese Han Population

    Science.gov (United States)

    Liu, Shengyuan; Li, Tao; Xiong, Xingdong; Yao, Songpo; Chen, Zhongwei; Wang, Changyi

    2013-01-01

    There are large amounts of unfolding or misfolding protein accumulation in the endoplasmic reticulum in patients with type 2 diabetes (T2D), which in turn induces the expression of the glucose-regulated protein 78 (GRP78) that plays a key role in influencing insulin secretion and maintaining glucose homeostasis in pancreatic beta cells. The aim in the study is to analyze the potential association between single-nucleotide polymorphisms (SNPs) of GRP78 and the risk of T2D. To assess the association between GRP78 polymorphisms and T2D, a case–control study was conducted among 1058 consecutive unrelated subjects. Of the 1058 subjects, 523 of them were diagnosed with T2D and 535 of them were healthy controls. Four SNPs with R2>0.8 and the minor allele frequency>0.05 (rs391957, rs17840761, rs17840762, and rs11355458) in the GRP78 gene promoter were analyzed. Overall, no associations of GRP78 polymorphisms with T2D were observed in genotypic analyses. In addition, haplotypes combining those SNPs in the promoter in high linkage disequilibrium were also not associated with a T2D risk. However, the levels of fasting plasma glucose and HbA1c in patients with the −415AA/−180GG genotype were significantly lower than those of the patients with −415GG/−180deldel and −415AG/−180Gdel genotypes, and the level of fasting insulin in patients with the −415AA/−180GG genotype was significantly lower than that of the patients with −415GG/−180deldel. The study does not support a role for promoter polymorphisms of GRP78 in T2D in a Chinese Han population, but it does provide a clue for association between low levels of fasting plasma glucose, HbA1c and fasting insulin, and the −415AA/−180GG model. PMID:23402331

  14. IFNG polymorphisms are associated with tuberculosis in Han Chinese pediatric female population.

    Science.gov (United States)

    Shen, Chen; Jiao, Wei-Wei; Feng, Wei-Xing; Wu, Xi-Rong; Xiao, Jing; Miao, Qing; Sun, Lin; Wang, Bin-Bin; Wang, Jing; Liu, Fang; Shen, Dan; Shen, A-Dong

    2013-09-01

    Host genetic factors play a major role in determining differential susceptibility to human tuberculosis (TB), a re-emerging infectious disease throughout the world. Genetic variations in the IFNG gene coding for interferon gamma (IFN-γ), have been identified in TB patients. To investigate the association of the IFNG polymorphisms with TB susceptibility in Chinese pediatric population. A case-control study of 189 TB patients and 164 controls was performed using single-nucleotide polymorphism (SNP) analysis. Genomic DNA was extracted from leukocytes in peripheral blood. Three SNPs of IFNG, including -1616C/T (rs2069705), +874A/T (rs2430561), and +3234C/T (rs2069718), were selected for genotyping and analysis. The +874A and +3234C alleles were more frequent among TB patients (P = 0.108 and P = 0.088), especially in females (both P = 0.029), although this difference was not significant since Bonferroni corrected significance threshold was 0.025 (two of three SNPs were found to be in linkage disequilibrium). More pronounced differences for the +874 and +3234 polymorphisms were found under the genotype comparison between TB cases and controls in the total population [P = 0.026 (borderline non-significance) and P = 0.020, respectively], and in the female subgroup (P = 0.020 and P = 0.020). The dominant model of inheritance was shown to be significant for +874A and +3234C alleles (both P = 0.019) in the female subgroup. The +874A and +3234C alleles were more frequently found in extrapulmonary TB patients than in controls (P = 0.039). Haplotype analysis carried out on these three SNPs showed the TTT haplotype to be more frequent in controls than in TB cases, and this difference showed a strong significance (P = 0.005). The +874A and +3234C alleles may be related to TB susceptibility in the female subgroup in the Chinese pediatric population of North China. The higher rate of +874A (known to correlate with lower IFN-γ expression) in the extrapulmonary

  15. Influence of fibrinogen β-chain gene variations on risk of myocardial infarction in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    LU Xiang-feng; YU Hong-jiang; ZHOU Xiao-yang; WANG Lai-yuan; HUANG Jian-feng; GU Dong-feng

    2008-01-01

    Background Although the role of fibrinogen as a predictor of acute myocardial infarction(MI)has been well-established,the association of genetic polymorphisms in the fibrinogen gene with MI is still controversial.This study was conducted to elucidate the association between the genetic polymorphisms of the fibrinogen β-chain(FGB)gene and MI in Chinese Han population.Methods The occurrence of 3 common polymorphisms(i.e.-455G/A,R448K and 8558C/G)in a case-control study including 508 patients with MI and 503 healthy controls was investigated. Results Analyses of single polymorphisms showed that individuals carrying the rare alleles for the 3 polymorphisms were significantly associated with a decreased risk of MI.Logistic regression analysis indicated that R448K remained independently associated with MI after adjustment for environmental risk factors(adjusted odds ratio(OR)=0.71 for KK/RK versus RR.P=0.023).The three polymorphisms were found to be in strong linkage disequilibrium.Haplotype analyses showed that the A-K-G haplotype(-455A,448K,8558G)was associated with a protective effect against MI.Compared with the common haplotype G-R-C,the adjusted OR for A-K-G was 0.68(95% CI,0.51-0.90;P=0.006). Conclusion These data indicate that individuals carrying the FGB 448K allele may be protective against having MI in this population.

  16. Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.

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    Hsin-Chou Yang

    Full Text Available Young-onset hypertension has a stronger genetic component than late-onset counterpart; thus, the identification of genes related to its susceptibility is a critical issue for the prevention and management of this disease. We carried out a two-stage association scan to map young-onset hypertension susceptibility genes. The first-stage analysis, a genome-wide association study, analyzed 175 matched case-control pairs; the second-stage analysis, a confirmatory association study, verified the results at the first stage based on a total of 1,008 patients and 1,008 controls. Single-locus association tests, multilocus association tests and pair-wise gene-gene interaction tests were performed to identify young-onset hypertension susceptibility genes. After considering stringent adjustments of multiple testing, gene annotation and single-nucleotide polymorphism (SNP quality, four SNPs from two SNP triplets with strong association signals (-log(10(p>7 and 13 SNPs from 8 interactive SNP pairs with strong interactive signals (-log(10(p>8 were carefully re-examined. The confirmatory study verified the association for a SNP quartet 219 kb and 495 kb downstream of LOC344371 (a hypothetical gene and RASGRP3 on chromosome 2p22.3, respectively. The latter has been implicated in the abnormal vascular responsiveness to endothelin-1 and angiotensin II in diabetic-hypertensive rats. Intrinsic synergy involving IMPG1 on chromosome 6q14.2-q15 was also verified. IMPG1 encodes interphotoreceptor matrix proteoglycan 1 which has cation binding capacity. The genes are novel hypertension targets identified in this first genome-wide hypertension association study of the Han Chinese population.

  17. Polymorphisms in TCF7L2 gene are associated with gestational diabetes mellitus in Chinese Han population

    Science.gov (United States)

    Ye, Dan; Fei, Yang; Ling, Qi; Xu, Weiwei; Zhang, Zhe; Shu, Jing; Li, Chengjiang; Dong, Fengqin

    2016-01-01

    This study aimed to investigate the possible association between diabetes susceptibility gene transcription factor 7-like 2 (TCF7L2) and gestational diabetes mellitus (GDM) in a Chinese Han population. A total of 556 GDM patients and 500 Non-GDM were included. Eighteen single nucleotide polymorphisms (SNPs) were evaluated. Fifteen tag SNPs were selected from HapMap CHB database with a minor allele frequency of >0.2 and r2 of >0.8. Three additional SNPs were also chosen because these SNPs are associated with type 2 diabetes in East Asians. TCF7L2 rs290487, rs6585194, and rs7094463 polymorphisms were found to be significantly associated with GDM. In multivariate analysis, rs290487 genetic variation (OR = 2.686 per each C allele, P = 0.002), pre-BMI > 24 kg/m2 (OR = 1.592, P = 0.018), age > 25 years (OR = 1.780, P = 0.012) and LDL-C > 3.6 mmol/L (OR = 2.034, P = 0.009) were identified as independent risk factors of GDM, rs7094463 genetic variation (OR = 0.429 per each G allele, P = 0.005) was identified as independent protect factor of GDM. This finding suggests that TCF7L2 rs290487, and rs7094463 were a potential clinical value for the prediction of GDM. PMID:27465520

  18. FGFR1OP tagSNP but not CCR6 polymorphisms are associated with Vogt-Koyanagi-Harada syndrome in Chinese Han.

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    Xianglong Yi

    Full Text Available BACKGROUND: Polymorphisms of the CC chemokine receptor 6 (CCR6 and FGFR10P tagSNP (locus close to CCR6 at 6q27 have recently been reported to be associated with the susceptibility to several immune-related diseases. This study was designed to determine the association of CCR6 and FGFR10P (tagSNPs with Vogt-Koyanagi-Harada (VKH syndrome, an autoimmune disease directed against melanocytes, in two independent Chinese Han populations. METHODOLOGY/PRINCIPAL FINDINGS: A total of 601 VKH patients and 725 healthy controls from two Chinese Han populations were genotyped by the polymerase chain reaction-restriction fragment length polymorphism method. Hardy-Weinberg equilibrium was tested using the χ(2 test. Genotype frequencies were estimated by direct counting. Allele and genotype frequencies were compared between patients and controls using the χ(2 test. The frequency of the A allele of rs2301436 was significantly higher both in Cohort 1 and Cohort 2 as compared with two separate controls (P = 0.044; P = 0.049, respectively. The significance was lost after Bonferroni correction in both cohorts (Pc = 0.516; Pc = 0.392, respectively. The frequency of the A allele was significantly higher in the combined patient group as compared with all controls before and after Bonferroni correction (P = 0.005, Pc = 0.025. The genotype and allele frequencies of rs3093024, rs6902119, rs3093023 and rs968334 were not different between patients with VKH and healthy controls based on analysis either for both cohorts or for the patients and controls in total. Analysis according to extra ocular clinical findings including headache, alopecia and poliosis, vitiligo and tinnitus did not show any association of the five polymorphisms with these parameters. CONCLUSION: These results suggest that the rs2301436 tagSNP of FGFR10P is positively associated with susceptibility to VKH syndrome in the tested Chinese Han populations. No association was found for

  19. Surfactant Protein B 1580 Polymorphism Is Associated with Susceptibility to Chronic Obstructive Pulmonary Disease in Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    胡瑞成; 徐永健; 张珍祥

    2004-01-01

    Summary: Whether surfactant protein B (SP-B)-18A/C and 1580C/T polymorphism were associated with susceptibility to chronic obstructive pulmonary disease (COPD) in Chinese Han population was investigated. After genomic DNA was isolated from blood of COPD smokers and control smokers, the genotypes of SP-B-18A/C and SP-B1580C/T polymorphism loci were determined by polymerase chain reaction restriction fragment length polymorphism analysis (PCR-RFLP) respectively.The results showed that there was significant difference in genotypes distribution frequency of SPB1580C/T polymorphism locus between COPD smokers and control smokers. C→T mutation rate (including TT homozygote and CT heterozygote) in COPD smokers was higher than in control smokers (57.9 % vs 41.7 %, x2 =4.93, P<0.05), whereas there was no significant difference in genotypes distribution frequency of SP-B1580-18A/C locus between COPD smokers and control smokers. The allele frequency (29.1 %) of SP-B1580-18A/C locus is lower than T allele (70.9 %)in Chinese Han Population, and the distribution was different from that in Mexican, in which, the A and T allele frequencies were 85 % and 15 % respectively. It was concluded that SP-B1580 T allele was probably associated with increased susceptibility to COPD in Chinese Han population;The polymorphism of SP-B-18A/C locus maybe varied with race.

  20. A meta-analysis of relationship between β-fibrinogen gene -148C/T polymorphism and susceptibility to cerebral infarction in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    CHEN Xiao-chao; XU Ming-tong; ZHOU Wu; HAN Chun-li; CHEN Wei-qing

    2007-01-01

    Objective The results of studies on association between -148C/T polymorphism in promoter region of β-fibrinogen gene and susceptibility to cerebral infarction in Chinese population are controversial. In this study, we summarize the results of published works in this field by a meta-analysis.Data sources Genetic association studies evaluating the β-fibrinogen gene -148C/T polymorphisms and cerebral infarction involving Chinese population published before December 2005 were collected from PubMed, EMBASE and CNKI.Study selection Case control studies involving unrelated, Han subjects aged from 18 to 80 years, and the internationally recognized diagnostic standard of cerebral infarction and genotype frequencies in control group consistent with Hardy-Weinberg equilibrium were used. Publication bias was tested by funnel plot and the odds ratios of all studies were combined dependent on the result of heterogeneity test among the individual studies. The software Review Manager (Version 4.2) was used for meta-analysis.Results Eleven studies including 1223 patients and 1433 controls met the selection criteria. There was no heterogeneity among the odds ratios (ORs) of individual studies (x2=17.82, P=0.06). The combined OR of susceptibility to cerebral infarction in -148T allele carriers compared to the wild homozygote was 1.32 (95%C/1.12 to 1.55, P=0.0008).In the patients with cerebral infarction, the average plasma fibrinogen level of allele T carrier was 0.42 g/L (95%CI 0.29 to 0.54, P<0.001), higher than that of -148C/C homozygous ones.Conclusions β-fibrinogen gene -148C/T polymorphism might contribute to susceptibility to cerebral infarction in Han Chinese. To reach a definitive conclusion, further gene to gene and gene to environment interactions studies on β-fibrinogen polymorphisms and cerebral infarction with large sample size are required.

  1. Analysis of 24 Y chromosomal STR haplotypes in a Chinese Han population sample from Henan Province, Central China.

    Science.gov (United States)

    Shi, Meisen; Liu, Yaju; Zhang, Juntao; Bai, Rufeng; Lv, Xiaojiao; Ma, Shuhua

    2015-07-01

    We analyzed haplotypes for 24 Y chromosomal STRs (Y-STRs), including 17 Yfiler loci (DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS437, DY438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y-GATA-H4) and 7 additional STRs (DYS388, DYS444, DYS447, DYS449, DYS522 and DYS527a/b) in 1100 unrelated Chinese Han individuals from Henan Province using AGCU Y24 STR kit systems. The calculated average gene diversity (GD) values ranged from 0.4105 to 0.9647 for the DYS388 and DYS385a/b loci, respectively. The discriminatory capacity (DC) was 72.91% with 802 observed haplotypes using 17 Yfiler loci, by the addition of 7 Y-STRs to the Yfiler system, the DC was increased to 79.09% while showing 870 observed haplotypes. Among the additional 7 Y-STRs, DYS449, DYS527a/b, DYS444 and DYS522 were major contributors to enhancing discrimination. In the analysis of molecular variance, the Henan Han population clustered with Han origin populations and showed significant differences from other Non-Han populations. In the present study, we report 24 Y-STR population data in Henan Han population, and we emphasize the need for adding additional markers to the commonly used 17 Yfiler loci to achieve more improved discriminatory capacity in a population with low genetic diversity. PMID:25864156

  2. 643例中国北方汉族急性淋巴细胞白血病患者人类白细胞抗原连锁不平衡分析%Analysis of HLA haplotype frequency and linkage disequilibrium in patients with acute lymphoblastic leukemia from Northern Chinese Han

    Institute of Scientific and Technical Information of China (English)

    高素青; 程良红; 卢亮; 金士正; 程曦; 张印则; 邹红岩; 邓志辉

    2009-01-01

    目的 分析643例中国北方汉族急性淋巴细胞白血病(acute lymphoblastic leukemia,ALL)患者组和20359名健康对照组的人类白细胞抗原(human leukocyte antigen,HLA)HLA-A-B、B-DR和AB-DR单倍型频率及连锁不平衡分布差异.方法 应用最大似然性算法(expectation-maximization,EM)计算患者组和对照组的HLA-A-B、B-DRB1和A-B-DRB1单倍型频率及连锁不平衡参数,采用X2检验比较其分布差异.结果 HLA-A30-B13、A2-B46、A33-B58,B13-DR7、B46-DR9、B52-DR15、B58-DR17,A30-B13-DR7、A33-B58-DR17和A1-B37-DR10单倍型是两组常见、共有呈强连锁不平衡单倍型.A30-B13、A2-B46、A33-B44、B13-DR7、A30-B13-DR7和A2-1346-DR9的单倍型频率和连锁不平衡水平,患者组低于对照组,差异有统计学意义(X2>3.84,P<0.05).A2-B52、A2-B27、A24-B8,B60-DR9、B27-DR4、B52-DR14、B44-DR17、B27-DR12、和A11-B27-DR12的单倍型频率和连锁不平衡水平,患者组高于对照组,差异有统计学意义(X2>3.84,P<0.05).结论 643例北方汉族ALL患者组HLA-A-B、B-DRB1、A-B-DRB1单倍型频率分布及连锁不平衡遗传特征和对照组具有高度的同源性.患者组与对照组之间的部分HLA单倍型频率及连锁不平衡分布存在统计学差异.本研究结果 为ALL与HLA疾病相关性及HLA相合供者的寻找提供了基础数据.%Objective To analyze the difference between the frequencies of HLA-A-B.B-DRB1 and A-B-DRB1 haplotype,as well as their linkage disequilibrium pattern in patients with acute lymphoblastic leukemia(ALL)and healthy controls from Northern Chinese Han.Methods The frequencies of HLA-AB,B-DRB1,A-B-DR haplotypes and linkage disequilibrium were estimated by Expectation-Maximization method based on the genotypes of 643 patients with ALL and 2 0359 unrelated healthy donors,and the statistical significance between the two groups were estimated by chi-square test.Linkage disequilibrium was analyzed with population genetic methods.Results The

  3. A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China

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    CuiPing Liu

    2014-01-01

    Full Text Available Objective. Programmed cell death 1 (PD-1 induces negative signals to T cells during interaction with its ligands and is therefore a candidate gene in the development of autoimmune diseases such as rheumatoid arthritis (RA. Herein, we investigate the association of PDCD-1 polymorphisms with the risk of RA among Chinese patients and healthy controls. Methods. Using the PCR-direct sequencing analysis, 4 PDCD-1 SNPs (rs36084323, rs11568821, rs2227982, and rs2227981 were genotyped in 320 RA patients and 309 matched healthy controls. Expression of PD-1 was determined in peripheral blood lymphocytes by flow cytometry and quantitative real-time reverse transcriptase polymerase chain reaction. Results. We observed that the GG genotype of rs36084323 was associated with a increased risk for developing RA (OR 1.70, 95% 1.11–2.61, P=0.049. Patients carrying G/G genotype displayed an increased mRNA level of PD-1 (P=0.04 compared with A/A genotype and healthy controls. Meanwhile, patients homozygous for rs36084323 had induced basal PD-1 expression on activated CD4+ T cells. Conclusion. The PDCD-1 polymorphism rs36084323 was significantly associated with RA risk in Han Chinese population. This SNP, which effectively influenced the expression of PD-1, may be a biomarker of early diagnosis of RA and a suitable indicator of utilizing PD-1 inhibitor for treatment of RA.

  4. The analysis of mitochondrial DNA haplogroups and variants for in vitro fertilization failure in a Han Chinese population.

    Science.gov (United States)

    Mao, Genhong; Lu, Ping; Huang, Xiao-Hui; Wang, Wu-Liang; Tao, Shi-Bo; Li, Qian; Wang, Xiao-Ling; Wang, Ya-Nan

    2016-07-01

    In this study, we aimed to investigate the associations of mitochondrial DNA (mtDNA) haplogroups and variants with in vitro fertilization (IVF) failure. A retrospective, comparative study of 260 fresh IVF cycles in a Han Chinese population was performed from July 2011 to April 2014. Seventy-three couples had low fertilization rates (≤30%) or total fertilization failure, and 187 controls with normal fertilization were included. Human sperm mtDNA haplogroups and variants were determined by polymerase chain reaction (PCR), nested PCR and direct sequencing. One unreported point variant, A15397G, and two novel deletions at positions 8270-8278 and 8276-8284 were found in this study. A homozygous variant, G9053A in MT-ATP6, was detected in 4 of the 73 cases with fertilization failure, whereas this substitution was not detected in the control group (p IVF failure group was markedly lower than that in the control group (p IVF failure group were also markedly lower than those in the control group (p IVF failure group than in the control group (p IVF failure, but the 10397 homozygous variant in MT-ND3 might help decrease the risk of developing IVF failure. Furthermore, this study indicated that men with haplogroup Z might inherit a higher risk of IVF failure in the Han Chinese population. PMID:26242719

  5. Association between single-nucleotide polymorphisms in six hypertensive candidate genes and hypertension among northern Han Chinese individuals.

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    Wang, Lijuan; Zhang, Bei; Li, Mei; Li, Chuang; Liu, Jielin; Liu, Ya; Wang, Zuoguang; Zhou, Jiapeng; Wen, Shaojun

    2014-12-01

    Hypertension is one of the leading risk factors for mortality. The renin-angiotensin-aldosterone system (RAAS) is a potent and powerful mediator in the homeostasis of hypertension. Here, the association between six candidate genes, renin, adrenoceptor β3, angiotensinogen, aldosterone synthase, angiotensin II receptor type 1 and angiotensin II receptor type 2, that are related to RAAS and essential hypertension (EH) was evaluated and explored in northern Chinese Han individuals. A case-control study including 1090 EH cases and 700 controls was performed. Eight single-nucleotide polymorphisms (SNPs), rs699, rs4762, rs5707, rs5186, rs4994, rs1799998, rs5193 and rs5194, located in the six genes were genotyped with TaqMan real-time PCR method. Statistical analysis software (SPSS 17.0) was used for descriptive statistics and association analyses. Among the six genes related to RAAS, the frequencies of rs4994 (ADRB3) and rs5194 (AGTR2) were found to be significantly different between the EH cases and controls (P ADRB3 rs4994 and CYP11B2 rs1799998 were significantly closely associated with EH in northern Han Chinese individuals. The CC of rs4994 and CC or C allele of rs1799998 might be protective genetic factors of hypertension. PMID:25099490

  6. Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

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    Xue Jiao

    Full Text Available BACKGROUND: The etiology of most premature ovarian failure (POF cases is usually elusive. Although genetic causes clearly exist and a likely susceptible region of 8q22.3 has been discovered, no predominant explanation exists for POF. More recently, evidences have indicated that mutations in NR5A1 gene could be causative for POF. We therefore screened for mutations in the NR5A1 gene in a large cohort of Chinese women with non-syndromic POF. METHODS: Mutation screening of NR5A1 gene was performed in 400 Han Chinese women with well-defined 46,XX idiopathic non-syndromic POF and 400 controls. Subsequently, functional characterization of the novel mutation identified was evaluated in vitro. RESULTS: A novel heterozygous missense mutation [c.13T>G (p.Tyr5Asp] in NR5A1 was identified in 1 of 384 patients (0.26%. This mutation impaired transcriptional activation on Amh, Inhibin-a, Cyp11a1 and Cyp19a1 gene, as shown by transactivation assays. However, no dominant negative effect was observed, nor was there impact on protein expression and nuclear localization. CONCLUSIONS: This novel mutation p.Tyr5Asp, in a novel non-domain region, is presumed to result in haploinsufficiency. Irrespectively, perturbation in NR5A1 is not a common explanation for POF in Chinese.

  7. Polymorphisms in Four Genes (KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963) and Their Correlation with Type 2 Diabetes Mellitus in Han Chinese in Henan Province, China

    OpenAIRE

    Gao, Kaiping; Wang, Jinjin; Li, Linlin; Zhai, Yujia; Ren, Yongcheng; You, Haifei; Wang, Bingyuan; Wu, Xuli; Li, Jianna; Liu, Zichen; Li, Xiong; Huang, Yaxin; Luo, Xin-Ping; Hu, Dongsheng; Ohno, Kinji

    2016-01-01

    Genetic variants at KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963 have been associated with type 2 diabetes mellitus (T2DM), but the results are contradictory in Chinese populations. The aim of the present study was to investigate the association of these four SNPs with T2DM in a large population of Han Chinese at Henan province, China. Seven-hundred-thirty-six patients with T2DM (cases) and Seven-hundred-sixty-eight healthy glucose-tolerant controls were genotyped for K...

  8. Genetic association of urokinase-type plasminogen activator gene rs2227564 site polymorphism with sporadic Alzheimer's disease in the Han Chinese population

    Institute of Scientific and Technical Information of China (English)

    Xuelian Ji; Longfei Jia; Jianping Jia; Li Qi

    2012-01-01

    A missense C/T polymorphism in exon 6 (the NCBI rsID is rs2227564) of the urokinase-type plasminogen activator gene has been identified as a possible hot spot for Alzheimer's disease risk.The present study analyzed urokinase-type plasminogen gene polymorphisms of rs2227564 with sporadic Alzheimer's disease by PCR-restriction fragment length polymorphism.Results showed that CC,CT and TT genotype distribution frequencies had significant differences between sporadic Alzheimer's disease patients and healthy controls.In-depth analysis of the association between urokinase-type plasminogen gene rs2227564 polymorphisms and sporadic Alzheimer's disease indicated that people with the C-positive genotype CC + CT were at a higher risk for developing sporadic Alzheimer's disease.These results support the contribution of the polymorphisms of rs2227564 in the urokinase-type plasminogen gene to the pathogenesis of sporadic Alzheimer's disease in the Han Chinese population.

  9. A Functional Variant at the miR-214 Binding Site in the Methylenetetrahydrofolatereductase Gene Alters Susceptibility to Gastric Cancer in a Chinese Han Population

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    Qiaoyun Chen

    2015-05-01

    Full Text Available Background and Aims: Single nucleotide polymorphisms in miRNA binding sites, which are located in mRNA 3' untranslated regions (3'-UTRs, were recently found to influence microRNA-target interactions. Specifically, such polymorphisms can modulatebinding affinity or create or destroy miRNA-binding sites; such variants have also been found to be associated with cancer risk. In this study, we explored the effect of a functional variant at the miR-214 binding site in the methylenetetrahydrofolate reductase gene (rs114673809 on gastric cancer (GC risk in a hospital-based case-control study in a Chinese Han population. Methods and Results: We genotyped the rs114673809 polymorphism in 345 gastric cancer patients and 376 cancer-free controls using the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP technique. The functions of rs114673809 were investigated using a luciferase activity assay and validated by immunoblotting. We found that participants carrying the rs114673809 AA genotype or A allele had a significantly increased risk of gastric cancer (OR = 1.667, 95% CI = 1.044-2.660, P = 0.034; OR = 1.261, 95% CI = 1.017-1.563, P = 0.037, respectively compared to those carrying the GG genotype and G allele. In addition, rs114673809 modified the binding of hsa-miR-214 to MTHFR as well as MTHFR protein levels in gastric cancer patients. Conclusion: Our data suggested that rs114673809, which is located at the miR-214 binding site in the 3'-UTR of MTHFR, may play an important role in the development of gastric cancer in a Chinese Han population.

  10. [Gene and haplotype frequencies for the loci HLA-A, B and DRB1 in 11755 north Chinese Han bone marrow registry donors].

    Science.gov (United States)

    Wu, Qiang-Ju; Liu, Meng-Li; Qi, Jun; Liu, Sheng; Zhang, Yan; Wei, Xiao-Qian

    2007-04-01

    disequilibrium. HLA-A30-B13, A33-B58, A1-B37, A30-DR7, A33-DR13, A1-DR10, B37-DR10, B8-DR17, B13-DR7, B58-DR17 were significant positive linkage disequilibrium. It is concluded that this HLA-A, B, DRB1 gene and haplotype frequencies and linkage disequilibrium data with the largest sample size up to now is unique in north Chinese Han population. The study will be helpful to find matched donors for patients and establish the important foundation for further studying of transplantation immunity, HLA-related diseases and population genetics of this area. PMID:17493347

  11. Relationship between the -455G/A and -148C/T polymorphisms in the beta-fibrinogen gene and cerebral infarction in the Xinjiang Uygur and Han Chinese populations

    Institute of Scientific and Technical Information of China (English)

    Xiaoning Zhang; Yanyun Li; Xuebing Guo; Lei Du; Jianhua Ma

    2012-01-01

    We sought to investigate the correlation between the -455G/A and -148C/T polymorphisms of the β-fibrinogen gene and plasma fibrinogen levels in patients with cerebral infarction and in healthy subjects among the Xinjiang Uygur and Han Chinese populations, by using polymerase chain reaction-restriction enzyme digestion analysis.Results showed that there were no statistically significant differences in the distributions of the -455G/A genotype and allele frequency between the Uygurs and the Han.Plasma fibrinogen levels in cerebral infarction patients among the Uygurs and the Han were higher than those among healthy subjects.In particular, the frequencies of the -455G/A AA and -148C/T TT genotypes were significantly higher than in healthy subjects.Individuals carrying the A or T allele had a higher incidence of cerebral infarction compared with those carrying the G or C allele.Our experimental findings indicate that the -148C/T and -455G/A polymorphisms are associated with cerebral infarction in Xinjiang Uygur and Han Chinese subjects.The susceptibility- conferring alleles are -148T and -455A, and the susceptibility-conferring genotype is -455G/A + AA.

  12. Association of germline variation in CCNE1 and CDK2 with breast cancer risk, progression and survival among Chinese Han women.

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    Ji-Yuan Han

    Full Text Available BACKGROUND: Somatic alterations of cyclin-dependent kinase 2 (CDK2-cyclin E complex have been shown to contribute to breast cancer (BC development and progression. This study aimed to explore the effects of single nucleotide polymorphisms (SNPs in CDK2 and CCNE1 (a gene encoding G1/S specific cyclin E1 protein, formerly called cyclin E on BC risk, progression and survival in a Chinese Han population. METHODOLOGY/PRINCIPAL FINDINGS: We herein genotyped 6 haplotype-tagging SNPs (htSNPs of CCNE1 and 2 htSNPs of CDK2 in 1207 BC cases and 1207 age-matched controls among Chinese Han women, and then reconstructed haplotype blocks according to our genotyping data and linkage disequilibrium status of these htSNPs. For CCNE1, the minor allele homozygotes of three htSNPs were associated with BC risk (rs3218035: adjusted odds ratio [aOR] = 3.35, 95% confidence interval [CI] = 1.69-6.67; rs3218038: aOR = 1.81, 95% CI = 1.22-2.70; rs3218042: aOR = 2.64, 95% CI = 1.31-5.34, and these three loci showed a dose-dependent manner in increasing BC risk (P(trend = 0.0001. Moreover, the 5-SNP haplotype CCGTC, which carried none of minor alleles of the 3 at-risk SNPs, was associated with a favorable event-free survival (hazard ratio [HR] = 0.53, 95% CI = 0.32-0.90. Stratified analysis suggested that the minor-allele homozygote carriers of rs3218038 had a worse event-free survival among patients with aggressive tumours (in tumour size>2 cm group: HR = 2.06, 95% CI = 1.06-3.99; in positive lymph node metastasis group: HR = 2.41, 95% CI = 1.15-5.03; in stage II-IV group: HR = 2.03, 95% CI = 1.09-3.79. For CDK2, no significant association was found. CONCLUSIONS/SIGNIFICANCE: This study indicates that genetic variants in CCNE1 may contribute to BC risk and survival in Chinese Han population. They may become molecular markers for individual evaluation of BC susceptibility and prognosis. Nevertheless, further validation studies are needed.

  13. Transmission of NOTCH4 and GRIK2 in a population of Han Chinese with schizophrenia and affective disorder

    Institute of Scientific and Technical Information of China (English)

    Zuowei Wang; Yiru Fang; Shaoping Zhang; Shunying Yu; Sanduo Jiang

    2008-01-01

    BACKGROUND: Increasing evidence suggests overlapped genetic susceptibility across traditional classification systems that divided psychotic disorders into schizophrenia or affective disorder.OBJECTIVE: This study aimed to explore whether schizophrenia and affective disorder share genetic susceptibility in NOTCH4 and GRIK2 loci in a population of Han Chinese. DESIGN: Repetitive measurements.SETTING: The experiment was carried out at Shanghai Mental Health Center and Hongkou Mental Health Center of Shanghai between January 2001 and June 2004.PARTICIPANTS: Sixty-five mixed pedigrees (suffering from various diseases, in combination with schizophrenia and affective disorder), composed of 45 completed trios and 20 single-parent families, were selected from Shanghai Mental Health Center and Hongkou Mental Health Center of Shanghai between January 2001 and June 2004. Probands received clinical diagnosis according to ICD-10; an independent clinician used identical criteria to review all diagnoses. All subjects were Han Chinese in origin and provided informed consent. There were 65 probands and 110 parents among the subjects. The probands comprised 30 males and 35 females: 33 with schizophrenia, 32 with affective disorder, mean age of (30.9 ± 9.8) years, mean age of onset (24.3 ± 8.8) years, mean duration (6.6 ± 7.0) years, and mean age of parents (58.8 ± 10.9) years.METHODS: DNA samples from probands and their biological parents were extracted from peripheral blood according to standard methods. Four polymorphisms, -1725T/G and -25T/C in NOTCH4, rs6922753T/C and rs2227283G/A in GRIK2, were amplified and genotyped with PCR-RFLP techniques. MAIN OUTCOME MEASURES: Association between NOTCH4, GRIK2 polymorphism, and schizophrenia was analyzed by transmission disequilibrium test (TDT).RESULTS: Sixty-five probands and 110 parents were included in the result analysis, with no dropouts. The results showed that the -25T/C polymorphism of NOTCH4 associated significantly with

  14. Variants in GLIS3 and CRY2 are associated with type 2 diabetes and impaired fasting glucose in Chinese Hans.

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    Chen Liu

    Full Text Available BACKGROUND: Recent genome-wide association studies have identified a number of common variants associated with fasting glucose homeostasis and type 2 diabetes in populations of European origin. This is a replication study to examine whether such associations are also observed in Chinese Hans. METHODS: We genotyped nine variants in or near MADD, ADRA2A, CRY2, GLIS3, PROX1, FADS1, C2CD4B, IGF1 and IRS1 in a population-based cohort including 3,210 unrelated Chinese Hans from Beijing and Shanghai. RESULTS: We confirmed the associations of GLIS3-rs7034200 with fasting glucose (beta = 0.07 mmol/l, P = 0.03, beta cell function (HOMA-B (beta = -3.03%, P = 0.009, and type 2 diabetes (OR [95%CI]  = 1.27 [1.09-1.49], P = 0.003 after adjustment for age, sex, region and BMI. The association for type 2 diabetes remained significant after adjusting for other diabetes related risk factors including family history of diabetes, lipid profile, medication information, hypertension and life style factors, while further adjustment for HOMA-B abolished the association. The A-allele of CRY2-rs11605924 was moderately associated with increased risk of combined IFG/type 2 diabetes (OR [95%CI]  = 1.15[1.01-1.30], P = 0.04. SNPs in or near MADD, ADRA2A, PROX1, FADS1, C2CD4B, IGF1, and IRS1 did not exhibit significant associations with type 2 diabetes or related glycemic traits (P≥0.10. CONCLUSIONS: In conclusion, our results indicate the associations of GLIS3 locus with type 2 diabetes and impaired fasting glucose in Chinese Hans, partially mediated through impaired beta-cell function. In addition, we also found modest evidence for the association of CRY2-rs11605924 with combined IFG/type 2 diabetes.

  15. Association of Adiponectin SNP+45 and SNP+276 with Type 2 Diabetes in Han Chinese Populations: A Meta-Analysis of 26 Case-Control Studies

    OpenAIRE

    Yiping Li; Xianli Li; Li Shi; Man Yang; Ying Yang; Wenyu Tao; Lei Shi; Yuxin Xiong; Ying Zhang; Yufeng Yao

    2011-01-01

    Recently, many studies have reported that the SNP+45(T>G) and SNP+276(G>T) polymorphisms in the adiponectin gene are associated with type 2 diabetes (T2DM) in the Chinese Han population. However, the previous studies yielded many conflicting results. Thus, a meta-analysis of the association of the adiponectin gene with T2DM in the Chinese Han population is required. In the current study, we first determined the distribution of the adiponectin SNP+276 polymorphism in T2DM and nondiabetes (NDM)...

  16. Identification of Novel Susceptibility Loci for Kawasaki Disease in a Han Chinese Population by a Genome-Wide Association Study

    OpenAIRE

    Tsai, Fuu-Jen; Lee, Yi-Ching; Chang, Jeng-Sheng; Huang, Li-Min; Huang, Fu-Yuan; Chiu, Nan-Chang; Chen, Ming-Ren; CHI, Hsin; Lee, Yann-Jinn; Chang, Li-Ching; Liu, Yi-Min; Wang, Hsiang-Hua; Chen, Chien-Hsiun; Chen, Yuan-Tsong; Wu, Jer-Yuarn

    2011-01-01

    Kawasaki disease (KD) is an acute systemic vasculitis syndrome that primarily affects infants and young children. Its etiology is unknown; however, epidemiological findings suggest that genetic predisposition underlies disease susceptibility. Taiwan has the third-highest incidence of KD in the world, after Japan and Korea. To investigate novel mechanisms that might predispose individuals to KD, we conducted a genome-wide association study (GWAS) in 250 KD patients and 446 controls in a Han Ch...

  17. HLA-A Gene Polymorphism Defined by High-Resolution Sequence Based Typing in 161 Northern Chinese Han People

    Institute of Scientific and Technical Information of China (English)

    Chunxia Yan; Haiyan Sun; Xiuqing Zhang; Jian Wang; Huanming Yang; Shengbin Li; Ruilin Wang; Jingxiang Li; Yajun Deng; Dongying Wu; Hongbo Zhang; Hongxing Zhang; Lidong Wang; Chunrong Zhang

    2003-01-01

    Human leukocyte antigen (HLA) system is the most polymorphic region known in the human genome. In the present study, we analyzed for the first time the HLA-A gene polymorphisms defined by the high-resolution typing methods--sequence-based typing (SBT) in 161 Northern Chinese Han people. A total of 74 different HLA-A gene types and 36 alleles were detected. The most frequent alleles were A*110101 (GF=0.2360), A*24020101 (GF=0.1646), and A*020101 (GF=0.1553); followed by A*3303 (GF=0.1180), A*3001 (GF=0.0590),and A*310102 (GF=0.0404). The frequencies of following alleles, A*0203, A*0205,A*0206, A*0207, A*030101, A*2423, A*2601, A*3201, and A*3301, are all higher than 0.0093. The homozygous alleles include A*020101, A*110101, A*24020101 and A*310102. Heterozygosity (H), polymorphism information content (PIC), discrimination power (DP) and probability of paternity exclusion (PPE) of HLA-A in the samples were calculated and their values were 0.8705, 0.8491, 0.6014, and 0.9475, respectively. These results by SBT analysis of HLA-A polymorphism in Northern Chinese Han population, especially the allele subtypes character, will be of great interest for clinical transplantation, disease-associated study and forensic identification. Implementation of high-resolution typing methods allows a significantly wider spectrum of HLA variation including rare alleles. This spectrum will further be extensively utilized in many fields.

  18. Insight into the Spectrum of Coronary Atherosclerosis in Asymptomatic Urban Han Chinese Population by Coronary Computed Tomography Angiography

    Science.gov (United States)

    Li, Jiangbing; Liu, Ruihong; Ji, Xiaokang; Xue, Hao; Zhang, Guang; Wang, Chunxia; Chen, Qicai; Xue, Fuzhong; Cui, Lianqun

    2015-01-01

    Objectives Highlighted the spectrum of coronary atherosclerosis in asymptomatic population by Computed Tomography Angiography (CTA) and developed a surrogation of expensive CTA to early detect coronary atherosclerosis. Methods Three hundred and seven self-referred urban Han Chinese asymptomatic individuals underwent coronary CTA were consecutively enrolled. Total plaque score (TPS), Segment stenosis score (SSS) and Coronary Artery Disease severity (CADS) were used to measure and illustrate the spectrum of atherosclerosis burden by mapping their incidence and proportion onto coronary artery tree. Logistic regression model was further used to explore the association between lipid biomarkers and TPS (SSS) for developing a surrogation of CTA to early detect coronary atherosclerosis. Results We found that the incidence of TPS, SSS and CADS were up to 71.34%, 68.08%, and 71.34%; and high-risk individuals reached up to 11.07%, 15.31% and 16.29% respectively. All TPS, SSS and CADS were much higher in male than female, and have trend of increasing with age. The most lesion segment emerged on proximal LAD, followed by proximal RCA, mid LAD, proximal LCX, and mid RCA with mixed plaque as dominant. HDL-C was a predictor to both TPS [OR: 0.12 (0.02–0.82)] and SSS [OR: 0.15 (0.03–0.76)], and could identify the serious atherosclerosis subjects of TPS or SSS score >5 (AUC 0.73 and 0.70). Conclusions The atherosclerosis plaque burden was about one in ten as high-risk individuals in this specific urban Han Chinese population. As potential surrogation of CTA, HDL-C was recognized as a significant predictor to atherosclerosis burden and revealed a good performance for identifying high-risk individuals. PMID:26151132

  19. Insight into the Spectrum of Coronary Atherosclerosis in Asymptomatic Urban Han Chinese Population by Coronary Computed Tomography Angiography.

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    Jiangbing Li

    Full Text Available Highlighted the spectrum of coronary atherosclerosis in asymptomatic population by Computed Tomography Angiography (CTA and developed a surrogation of expensive CTA to early detect coronary atherosclerosis.Three hundred and seven self-referred urban Han Chinese asymptomatic individuals underwent coronary CTA were consecutively enrolled. Total plaque score (TPS, Segment stenosis score (SSS and Coronary Artery Disease severity (CADS were used to measure and illustrate the spectrum of atherosclerosis burden by mapping their incidence and proportion onto coronary artery tree. Logistic regression model was further used to explore the association between lipid biomarkers and TPS (SSS for developing a surrogation of CTA to early detect coronary atherosclerosis.We found that the incidence of TPS, SSS and CADS were up to 71.34%, 68.08%, and 71.34%; and high-risk individuals reached up to 11.07%, 15.31% and 16.29% respectively. All TPS, SSS and CADS were much higher in male than female, and have trend of increasing with age. The most lesion segment emerged on proximal LAD, followed by proximal RCA, mid LAD, proximal LCX, and mid RCA with mixed plaque as dominant. HDL-C was a predictor to both TPS [OR: 0.12 (0.02-0.82] and SSS [OR: 0.15 (0.03-0.76], and could identify the serious atherosclerosis subjects of TPS or SSS score >5 (AUC 0.73 and 0.70.The atherosclerosis plaque burden was about one in ten as high-risk individuals in this specific urban Han Chinese population. As potential surrogation of CTA, HDL-C was recognized as a significant predictor to atherosclerosis burden and revealed a good performance for identifying high-risk individuals.

  20. Association and gene-gene interactions study of reelin signaling pathway related genes with autism in the Han Chinese population.

    Science.gov (United States)

    Shen, Yidong; Xun, Guanglei; Guo, Hui; He, Yiqun; Ou, Jianjun; Dong, Huixi; Xia, Kun; Zhao, Jingping

    2016-04-01

    Autism is a neurodevelopmental disorder with unclear etiology. Reelin had been proposed to participate in the etiology of autism due to its important role in brain development. The goal of this study was to explore the association and gene-gene interactions of reelin signaling pathway related genes (RELN, VLDLR, LRP8, DAB1, FYN, and CDK5) with autism in Han Chinese population. Genotyping data of the six genes were obtained from a recent genome-wide association study performed in 430 autistic children who fulfilled the DSM-IV-TR criteria for autistic disorder, and 1,074 healthy controls. Single marker case-control association analysis and haplotype case-control association analysis were conducted after the data was screened. Multifactor dimensionality reduction (MDR) was applied to further test gene-gene interactions. Neither the single marker nor the haplotype association tests found any significant difference between the autistic group and the control group after permutation test of 1,000 rounds. The 4-locus MDR model (comprising rs6143734, rs1858782, rs634500, and rs1924267 which belong to RELN and DAB1) was determined to be the model with the highest cross-validation consistency (CVC) and testing balanced accuracy. The results indicate that an interaction between RELN and DAB1 may increase the risk of autism in the Han Chinese population. Furthermore, it can also be inferred that the involvement of RELN in the etiology of autism would occur through interaction with DAB1. Autism Res 2016, 9: 436-442. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. PMID:26285919

  1. Association study of the endothelial nitric oxide synthase gene polymorphisms with essential hypertension in northern Han Chinese

    Institute of Scientific and Technical Information of China (English)

    ZHAO Qi; SU Shao-yong; CHEN Shu-feng; LI Biao; GU Dong-feng

    2006-01-01

    Background Nitric oxide (NO) synthesized by endothelial nitric oxide synthase (eNOS) plays an important role in both the regulation of endothelial function and the control of blood pressure. Up to now, there has been conflicting data regarding the association between three clinically relevant polymorphisms (T-786C, intron4b/a and G894T) of the eNOS gene and essential hypertension.Methods To examine the contribution of the three eNOS gene polymorphisms to the development of hypertension in the northern Han Chinese, a case-control study including 503 hypertensive cases and 490 age-,gender-, and area-matched controls recruited from the International Collaborative Study of Cardiovascular Disease in Asia (InterASIA) was conducted. Genotyping was performed by polymerase chain reaction (PCR) or PCR-restriction fragment length polymorphism (RFLP).Results The T-786C and intron4b/a polymorphisms were observed in significant linkage disequilibrium (D'=0.87, P<0.001). The minor allele frequencies of these three polymorphisms in healthy controls were much lower than those of Caucasians (9.3% vs 39.6%-42.0%, 8.9% vs 15.0%- 16.0% and 10.9% vs 34.5%-34.9%for -786C, intron4a and 894T, respectively). Genotype distributions and allele frequencies of the three polymorphisms did not differ between cases and controls (all P > 0.05). In addition, none of the eight estimated haplotypes significantly increased or decreased the risk of hypertension before or after adjustment for several known risk factors.Conclusion The study results suggest that the three eNOS gene polymorphisms are unlikely to be major genetic susceptibility factors for essential hypertension in the northern Han Chinese population.

  2. A TagSNP in SIRT1 gene confers susceptibility to myocardial infarction in a Chinese Han population.

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    Jie Cheng

    Full Text Available SIRT1 exerts protective effects against endothelial cells dysfunction, inflammation and atherosclerosis, indicating an important role on myocardial infarction (MI pathogenesis. Nonetheless, the effects of SIRT1 variants on MI risk remain poorly understood. Here we aimed to investigate the influence of SIRT1 polymorphisms on individual susceptibility to MI. Genotyping of three tagSNPs (rs7069102, rs3818292 and rs4746720 in SIRT1 gene was performed in a Chinese Han population, consisting of 287 MI cases and 654 control subjects. In a logistic regression analysis, we found that G allele of rs7069102 had increased MI risk with odds ratio (OR of 1.57 [95% confidence interval (CI = 1.15-2.16, Bonferroni corrected P (Pc = 0.015] after adjustment for conventional risk factors compared to C allele. Similarly, the combined CG/GG genotypes was associated with the increased MI risk (OR = 1.64, 95% CI = 1.14-2.35, Pc = 0.021 compared to the CC genotype. Further stratified analysis revealed a more significant association with MI risk among younger subjects (≤ 55 years old. Consistent with these results, the haplotype rs7069102G-rs3818292A-rs4746720T containing the rs7069102 G allele was also associated with the increased MI risk (OR = 1.41, 95% CI = 1.09-1.84, Pc = 0.040. However, we did not detect any association of rs3818292 and rs4746720 with MI risk. Our study provides the first evidence that the tagSNP rs7069102 and haplotype rs7069102G-rs3818292A-rs4746720T in SIRT1 gene confer susceptibility to MI in the Chinese Han population.

  3. Association of tag SNPs of GPx-3 with essential hypertension in rural Han Chinese in Fuxin, Liaoning, China

    Institute of Scientific and Technical Information of China (English)

    HAO Ying; LI Hong; SUN Ying-xian; WU Bao-gang; SHI Jin; CHEN Yan-li; SUN Zhao-qing; ZHENG Li-qiang; ZHANG Xin-gang; GENG Ning; LI Tie-jun

    2011-01-01

    Background Genetic mechanisms contribute to blood pressure regulation. This study investigated whether glutathione peroxidase (GPx-3) tag single nucleotide polymorphisms (SNPs) are associated with hypertension in the rural areas of Fuxin county, Liaoning province, China.Methods Indigenous Fuxin Han people participated, 523 unrelated hypertensives and 547 controls were recruited. All tag SNPs of GPx-3 gene were selected. We estimated SNP allele frequency in DNA pools with pyrosequencing.Results Before Bonferroni correction, C allele frequency for rs8177417 was significantly higher in hypertensives than those in controls (23.4% vs. 19.3%, P=0.014); T allele frequency for rs3828599 was significantly lower in hypertensives than those in controls (35.6% vs. 40.8%,P=0.009). However, when a Bonferroni correction for multiple testing was applied, only the polymorphisms rs3828599 of GPx-3 gene was associated with hypertension (P=0.045, OR: 0.833, 95%CI: 0.695-0.998).Conclusion The polymorphism of rs3828599 of GPx-3 gene might be associated with hypertension in rural Han Chinese from Fuxin, Liaoning.

  4. Polymorphism Profile of Nine Short Tandem Repeat Loci in the Han Chinese

    Institute of Scientific and Technical Information of China (English)

    Shuangding Li; Chunxia Yan; Yajun Deng; Ruilin Wang; Jian Wang; Huanming Yang; Shengbin Li

    2003-01-01

    Nine short tandem repeat (STR) markers (D3S1358, VWA, FGA, THO1, TPOX,CSFIPO, D5S818, D13S317, and D7S820) and a sex-identification marker (Amel-ogenin locus) were amplified with multiplex PCR and were genotyped with afour-color fluorescence method in samples from 174 unrelated Han individuals inNorth China. The allele frequencies, genotype frequencies, heterozygosity, prob-ability of discrimination powers, probability of paternity exclusion and Hardy-Weinberg equilibrium expectations were determined. The results demonstratedthat the genotypes at all these STR loci in Han population conform to Hardy-Weinberg equilibrium expectations. The combined discrimination power (DP) was1.05 × 10-10 within nine STR loci analyzed and the probability of paternity exclusion(EPP) was 0.9998. The results indicate that these nine STR loci and the Amelo-genin locus are useful markers for human identification, paternity and maternitytesting and sex determination in forensic sciences.

  5. Vitamin D receptor genetic polymorphisms and tuberculosis among Chinese Han ethnic group

    Institute of Scientific and Technical Information of China (English)

    CAO Shang; LUO Peng-fei; LI Wei; TANG Wan-qin; CONG Xiao-na; WEI Ping-min

    2012-01-01

    Background In epidemiological studies,tuberculosis (TB) appears intimately with vitamin D insufficiency whereas its relationship with vitamin D receptor (VDR) polymorphism caused by radical difference remains unspecified.This study aimed to investigate the relationship between vitamin D genetic polymorphism and tuberculosis in Han ethnic group.Methods Meta-analysis was adopted in the synthetic quantitative analysis of documents home and abroad on the relationship between vitamin D genetic polymorphisms and tuberculosis,which were openly published during June 2000 to January 2010.Random effect model and fixed effect model analyses were used to calculate the incorporated odds ratio (OR) based on the heterogeneity test data.Results A total of 6 eligible studies were included in this analysis.The Fokl-ff genotype showed a significant marginal association (Fixed effect model:OR 1.91,95% CI 1.44-2.52; Random effect model:OR 1.91,95% CI 0.94-3.88),yet Taql polymorphisms was not significantly related to TB.Conclusion The interaction between FoKI genotype polymorphism and TB observed demonstrates that vitamin D deficiency might exist as a risk factor during the development of TB in Han ethnic group and more evidences needed to validate the conclusion.

  6. Chromosome 9p21 and ABCA1 Genetic Variants and Their Interactions on Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population

    OpenAIRE

    Xiao-Li Cao; Rui-Xing Yin; Feng Huang; Jin-Zhen Wu; Wu-Xian Chen

    2016-01-01

    The single nucleotide polymorphisms (SNPs) related to both coronary heart disease (CHD) and ischemic stroke (IS) in Chinese individuals have not been identified definitely. This study was developed to evaluate the genetic susceptibility to CHD and IS on the chromosome 9p21 and the adenosine triphosphate (ATP)-binding cassette transporter A1 genes (ABCA1) in a Chinese Han population. Genotypes of the rs1333040, rs1333042, rs4977574, rs2066715 and rs2740483 SNPs were determined in 1134 unrelate...

  7. Dopamine receptor D2 and catechol-O-methyltransferase gene polymorphisms associated with anorexia nervosa in Chinese Han population: DRD2 and COMT gene polymorphisms were associated with AN.

    Science.gov (United States)

    Peng, Sufang; Yu, Shunying; Wang, Qian; Kang, Qing; Zhang, Yanxia; Zhang, Ran; Jiang, Wenhui; Qian, Yiping; Zhang, Haiyin; Zhang, Mingdao; Xiao, Zeping; Chen, Jue

    2016-03-11

    Dopamine receptor D2 (DRD2) and catechol-O-methyltransferase (COMT) are important in dopamine system which is proved to be associated with food-anticipatory behavior, food restriction, reward and motivation. This has made them good candidates for anorexia nervosa (AN). The aim of this work is to explore the roles of DRD2 (rs1800497) and COMT (rs4680, rs4633, rs4818) gene polymorphisms in the susceptibility of AN within the Chinese Han population. We recruited 260AN patients with DSM-IV diagnosis criteria, and 247 unrelated, normal weight controls. DRD2 (rs1800497) and COMT (rs4680, rs4633, rs4818) were genotyped in all subjects. We found rs1800497 and rs4633 were associated with the susceptibility of AN within the Chinese Han sample, and allele C of rs1800497 was a protective factor. There was a gene-gene interaction between rs1800497 of DRD2 gene and rs4633 of COMT gene. We concluded that rs1800497 and rs4633 play important roles in the AN susceptibility with respect to the Chinese Han population. The gene-gene interaction between DRD2 and COMT contributes to the risk of AN. PMID:26808641

  8. Measuring the volume of caudate nucleus in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the caudate nucleus' volume in Chinese adults of the Han nationality and provide morphological data for the construction of database for Chinese Standard Brain. Methods: This was a clinical multi-center study. One thousand Chinese healthy volunteers (age range =18 to 70) recruited from 16 hospitals were divided into 5 groups, i.e, Group A (age range = 18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range =61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. The volume of caudate was measured manually using 3D volume analysis software. The difference of volumes of the caudate between male and female were analyzed by independent sample t-test, and among age groups by ANOVA. Pearson's correlation coefficient was used to characterize the relationship between volumes and age. The differences of measurements between left and right caudate nucleus were analyzed by paired t test. Results: (1) The mean volume of bilateral caudate nucleus in healthy Chinese adults was (10.973± 1.647) cm3. The mean volume of the the male's left and right caudate nucleus were (5.656±0.860) and (5.671±0.855) cm3 respectively,no significant differences were found between the volume of left and right caudate nucleus (t=1.230, P>0.05). The mean volume of the the female's left and right caudate nucleus were (5.287±0.774) and (5.331±0.766) cm3 respectively, and the right's was larger than the left's with significant differences (t=3.999, P<0.01); (2) Pearson correlation analysis showed a significant negative correlation between the nucleus volume and age (male and female's, left and right) (r=-0.561, -0.568, -0.548, -0.552, P<0.05). Conclusion: With high-resolution MRI and 3D volumetric analytic software (Midob), the volume of the caudate nucleus can be

  9. Distributive characteristics of Ser49Gly and Gly389Arg genetic polymorphisms of β1-adrenoceptor in Chinese Han and Dai populations

    Institute of Scientific and Technical Information of China (English)

    Zhao-qian LIU; Hong-hao ZHOU; Jie LIU; Zhi-hua XIANG; Min-yu HU; Wei MO; Lian-sheng WANG; Dong-sheng OU-YANG; Nan HE; Dan WANG

    2006-01-01

    Aim: Genetic polymorphisms causing Ser49Gly and Gly389Arg mutants of β1-adrenoceptor may result in significant changes in the function of this receptor.The aim of the present study was to investigate the frequencies of the Ser49Gly and Gly389Arg mutant alleles in healthy Chinese populations and to investigate the differences between 2 Chinese ethnic groups (Han and Dai populations) with respect to the frequencies of these alleles. Methods: A total of 225 Han Chinese and 175 Dai Chinese unrelated healthy volunteers were recruited for this study.Genomic DNA was extracted from peripheral blood leukocytes by using a standard manual chloroform-phenol extraction. Fragments spanning the 2 polymorphisms were amplified by using polymerase chain reaction with template genomic DNA and relevant primers. The DNA products including the polymorphic loci were subjected to restriction endonuclease digestion with Eco0l09I and BcgI.Digested fragments were detected with an ultraviolet detector after electrophoresis (100 V for approximately 1.5 h). Results: The frequencies of the Gly49 and Arg389 alleles were, respectively, 16.2% and 76.4% in the Han population and 14.6%and 75.7% in the Dai population. Conclusion: The polymorphisms causing the Ser49Gly and Gly389Arg mutations of the β1-adrenoceptor existed in both healthy Han and Dai Chinese populations. The frequencies of the Ser49Gly and Gly389Arg mutant alleles were not significantly different in the Han and Dai populations.However, the frequency of the Gly389 variant seems to be significantly lower in these 2 populations than in an African-American population.

  10. 中国南方汉族急性淋巴细胞白血病患者572例的HLA基因和单倍型分析%Study on HLA alleles and haplotypes of 572 patients with acute lymphoblastic leukemia in southern Chinese Han

    Institute of Scientific and Technical Information of China (English)

    高素青; 程良红; 卢亮; 卓家才; 李明; 金士正; 邹红岩; 邓志辉

    2009-01-01

    目的 研究HLA-A、B、DRB1基因和单倍型与中国南方汉族急性淋巴细胞白血病(ALL)的疾病相关性.方法 应用最大似然性方法分别计算南方汉族ALL患者组572例和5645名南方汉族健康供者HLA-A、B、DRB1基因和单倍型频率,采用x 2检验方法比较其分布差异.结果 ALL组HLA-A33、B58和DRB1*17基因频率均低于对照组[HLA-A33(7.15%比9.3%,OR=0.73,P<0.05)、B58(5.93%比8.75%,OH=0.64,P<0.05)和DRB1*17(5.15%比6.30%,OR=0.82,P<0.05)];A3、B51 和DRB*12基因频率均高于对照组[A3(2.1%比1.26%,OR=1.7,P<0.05),B51(7.25%比5.78%,OR=1.3,P<0.05)和DRB*12(16.13%比12.99%,OR=1.35,P<0.05)];HLA-A33-B58-DRB1*17单倍型频率低于对照组(2.46%比4.14%,OR=0.35,P<0.05),A2-B51-DRB1*12单倍型频率高于对照组(1.24%比0.89%,OR=1.66,P<0.05).结论 携带有A33-B58-DRB1*17单倍型个体可能与降低ALL的发病风险有相关性,A3基因和A2-B51-DRB1*12可能与增加ALL发病风险有弱相关性.%Objective To study the distributive characteristics of HLA-A,B,DRBI alleles and haplotypes patients with ALL in southern Chinese Han.Methods The frequencies of HLA-A,B,DRB1alleles and haplotypes were estimated by Expectation-Maximization method based on the genotypes of 572patients with ALL and 5645 unrelated health donors,and then compared by chi-square test.Results The frequencies of HLA-A33(7.15%vs 9.3%,OR=0.73,P<0.05),B58(5.93%vs 8.75%,OR=0.64,P<0.05),DRB1*17(5.15%vs 6.30%,OR=0.82,P<0.05)alleles and HLA-A33-B58-DRB1*17(2.46%vs 4.14%,OB=0.35,P<0.05)haplotype were significantly lower in ALL patient groups than that in controls.The frequencies of HLA-A3(2.1%vs 1.26%,OR=1.7,P<0.05),B51(7.25%vs 5.78%,OR=1.3,P<0.05)and DRB*12 (16.13%vs 12.99%,OR=1.35,P<0.05)alleles and A2-B51-DRB1*12(1.24%vs.0.89%,OR=1.66,P<0.05)haplotype were significantly higher in ALL patient groups than that in controls.Conclusion These results indieated that HLA-A33-B58-DRB1*17 haplotype was a associated with a

  11. FADS gene polymorphisms confer the risk of coronary artery disease in a Chinese Han population through the altered desaturase activities: based on high-resolution melting analysis.

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    Si-Wei Li

    Full Text Available OBJECTIVE: We explored the desaturase activities and the correlation of fatty acid desaturases (FADS gene single nucleotide polymorphisms (SNPs with plasma fatty acid in coronary artery disease (CAD patients in a Chinese Han population. METHODS: Plasma fatty acids were measured by gas chromatography in CAD patients (n = 505 and a control group (n = 510. Five SNPs in the FADS gene were genotyped with high-resolution melting (HRM methods. RESULTS: After adjustment, D6D activity, assessed as arachidonic acid (AA, C20:4n-6/linoleic acid (LA, C18:2n-6, was higher in CAD patients (pT and rs174460 C>T were different between the two groups. The rs174537 T allele was associated with a lower risk of CAD [OR 0.743, 95% CI (0.624, 0.884, p = 0.001]. Carriers of the rs174460 C allele were associated with a higher risk of CAD [OR 1.357, 95% CI (1.106, 1.665, p = 0.003]. CONCLUSIONS: We firstly report that the rs174460 C allele is associated with a higher risk of CAD, and confirm that the rs174537 T allele is associated with a lower risk of CAD. Our results indicate that FADS gene polymorphisms are likely to influence plasma fatty acid concentrations and desaturase activities.

  12. The effect of geographical indices on left ventricular structure in healthy Han Chinese population

    Science.gov (United States)

    Cen, Minyi; Ge, Miao; Liu, Yonglin; Wang, Congxia; Yang, Shaofang

    2016-07-01

    The left ventricular posterior wall thickness (LVPWT) and interventricular septum thickness (IVST) are generally regarded as the functional parts of the left ventricular (LV) structure. This paper aims to examine the effects of geographical indices on healthy Han adults' LV structural indices and to offer a scientific basis for developing a unified standard for the reference values of adults' LV structural indices in China. Fifteen terrain, climate, and soil indices were examined as geographical explanatory variables. Statistical analysis was performed using correlation analysis. Moreover, a back propagation neural network (BPNN) and a support vector regression (SVR) were applied to developing models to predict the values of two indices. After the prediction models were built, distribution maps were produced. The results show that LV structural indices are characteristically associated with latitude, longitude, altitude, average temperature, average wind velocity, topsoil sand fraction, topsoil silt fraction, topsoil organic carbon, and topsoil sodicity. The model test analyses show the BPNN model possesses better simulative and predictive ability in comparison with the SVR model. The distribution maps of the LV structural indices show that, in China, the values are higher in the west and lower in the east. These results demonstrate that the reference values of the adults' LV structural indices will be different affected by different geographical environment. The reference values of LV structural indices in one region can be calculated by setting up a BPNN, which showed better applicability in this study. The distribution of the reference values of the LV structural indices can be seen clearly on the geographical distribution map.

  13. Measuring the volume of cingulate cortex in Chinese normal adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of cingulate cortex volumes of Chinese adults of the Han nationality and its relationship with age, which provide morphological data for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range = 18 to 70) recruited from 15 hospitals were divided into 5 groups, i.e., Group A (age range = 18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range =61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. Cingulate cortex volume (including bulk volume and the left/right volume) was measured semi-manually using 3D volume analysis software. Cingulate cortex volumes among age groups were compared by one-way ANOVA. Right and left cingulate cortex volumes between sexualities were analyzed by paired samples t test. The relationship between cingulate cortex volume and age was analyzed by Pearson correlations and regression analysis. Results: Cingulate cortex volumes of male and female were (20 347 ± 2504) and (19 432 ± 2184) mm3 respectively, and the male's was significantly larger than that of female's (two sample t'-test for independent samples, t'=6.156, P3 respectively, and those of female's were (10 064 ± 1407) and (9368 ± 1441) mm3 respectively. The volumes of cingulate cortex were significantly different between right and left in male or female (t=-12.960, -8.511, P3; right: (11212±1442), (11 096±1602), (11 040±1403), (10633±1638), (9604±1522) mm3] had statistical differences (F=16.738, 18.707, P3; right: (10 558± 1325), (10 266 ±1463), (10 100 ± 1497), (9779 ± 1304), (9617 ± 1254) mm3] also had significant differences (F=16.859,7.528,P<0.01). Bilateral cingulate cortex volume in both male and female were negatively correlated with

  14. Measuring the volume of temporal lobe in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the morphological features of temporal lobe of healthy Chinese Han adults on the high-resolution MRI and provide morphological data of temporal lobe for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. Three hundred healthy Chinese volunteers (male 150, and female 150) recruited from 15 hospitals were divided equally into five groups according to their age, i.e., 18-30 (Group A), 31-40 (Group B), 41-50 (Group C), 51- 60(Group D), 61-70(Group E). All subjects were scanned using T1WI 3D MPRAGE sequence and volumes of standardized temporal lobe were collected. The bilateral volumes of standardized temporal lobe were compared by variance analysis between male and female subjects and among five age groups. Results: The mean volumes of left and right temporal lobe were (97 126±15 703) mm3 and (97 015 ± 15 545) mm3 respectively for men, and (95 123 ± 14 564) mm3 and (96 423 ± 13 407) mm3 for women. The difference temporal lobe volume between male and female wasn't significant on the same side (F=1.336, 0.127, P= 0.249, 0.722). The left temporal lobe volumes of Group A-E were (93 873±13 351), (95 566± 11 964), (10 1890 ± 14 511), (93 972 ± 14 050) and (95 636 ± 19 864) mm3 respectively, and those on the right side were (93 409 ± 10 984), (98 158 ± 16 392), (102 079 ± 15 112), (95 448 ± 11 123) and (94 658 ± 16 928) mm3. There were significant differences among 5 groups between left and right temporal lobe volume(F=2.940, 3.514, P=0.021, 0.008). Further pairwise comparison revealed that left and right temporal lobe volume in Group C is higher than those of Group A and D (P0.05). Conclusion: High-resolution MRI could offer detailed images and precise morphological data of temporal lobe, which provides morphological data of temporal lobe for the construction of database for Chinese Standard Brain. (authors)

  15. B7-H4 gene polymorphisms are associated with sporadic breast cancer in a Chinese Han population

    International Nuclear Information System (INIS)

    B7-H4, a co-inhibitory molecule of the B7 family, can restrain T cell proliferation, cytokine secretion and the development of cytotoxicity. B7-H4 is expressed in tumor tissues at a higher level than in normal tissues, and has a potential effect to protect tumors from anti-tumor immune responses. This case-control study was carried out to determine the potential influences of B7-H4 gene polymorphisms on the susceptibility and progression of breast cancer in Han women of Northeast China. We genotyped three B7-H4 variants (rs10754339, rs10801935 and rs3738414) and tagged all common haplotypes (frequency greater than or equal to 1%) in a Chinese population consisting of 500 breast cancer cases and 504 control individuals matched for age. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine the genotypes. Our data indicated that, compared with the common genotype and allele of each SNP, the rs10754339 AG genotype and G allele showed a significantly increased risk of breast cancer (OR = 1.455, 95% CI 1.119-1.892; OR = 1.325, 95% CI 1.073-1.637, respectively). The rs10801935 CC genotype, the rs3738414 AA genotype and the rs3738414 A allele were associated with a significantly decreased risk of breast cancer (OR = 0.328, 95% CI 0.145-0.739; OR = 0.412, 95% CI 0.203-0.835; OR = 0.698, 95% CI 0.564-0.864, respectively). Additionally, the rs10754339 GG genotype was significantly associated with lymph node metastasis and PR status, and the G allele and the AG genotype were respectively associated with lymph node metastasis and ER status. In haplotype analysis, we observed that compared with the AAG haplotype, the AAA haplotype showed a significantly decreased risk of breast cancer (OR = 0.689, 95% CI 0.539-0.881), but the GAG haplotype was associated with a significantly increased risk of breast cancer (OR = 1.511, 95% CI 1.125-2.031). And the AAA and the GCG haplotypes also respectively have significant influences on

  16. [Correlation between the genetic polymorphisms of apolipoprotein M with the susceptibility to rheumatic diseases of Chinese Han populastion in Lanzhou].

    Science.gov (United States)

    Li, Meiyong; Guo, Xinling; Li, Qiannan; You, Chongge

    2016-08-01

    Objective To investigate the relationship between the genetic polymorphisms of apolipoprotein M (ApoM) and the susceptibility to rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and ankylosing spondylitis (AS) among Chinese Han population in Lanzhou. Methods Primers for the two single nucleotide polymorphism (SNP) sites (rs805296 and rs805297) in ApoM gene were designed and their genotyping methods of polymerase chain reaction-high resolution melting (PCR-HRM) assay were established. Case-control studies were performed among the 599 cases of RA, 194 cases of SLE, 179 cases of AS and 273 matched healthy controls to analyze the correlations between the two SNPs and the susceptibility to rheumatic diseases. Results The genotype frequencies of rs805296 were AA 87.0%, AG 12.7%, GG 0.3% in RA cases, AA 84.5%, AG 15.0%, GG 0.5% in SLE cases, AA 91.6%, AG 7.3%, GG 1.1% in AS cases, AA 85.0%, AG 15.0%, GG 0% in healthy controls. The ones of rs805297 were GG 38.2%, GT 51.8%, TT 10.0% in RA cases, GG 44.3%, GT 45.4%, TT 10.3% in SLE cases, GG 37.4%, GT 47.5%, TT 15.1% in AS cases, GG 40.7%, GT 46.1%, TT 13.2% in healthy controls. Statistical analyses showed that only the genotype distribution of rs805296 was significantly different between the AS cases and the healthy controls. Under the dominant model, the G allele carriers of rs805296 (AG heterozygote and GG homozygote) were found to significantly decrease the risk for AS development. Conclusion The established PCR-HRM genotyping assays in the present study can successfully achieve the molecular diagnosis of the two SNPs sites (rs805296 and rs805297) from clinical samples, and the study found a significant association between the SNP of rs805296 and the susceptibility to AS among Chinese Han population in Lanzhou. PMID:27412944

  17. Y-chromosome haplotype distribution in Han Chinese populations and modern human origin in East Asians

    Institute of Scientific and Technical Information of China (English)

    KE; Yuehai

    2001-01-01

    [1]Cann, R. L., Stoneking, M., Wilson, A. C., Mitochondria DNA and human evolution, Nature, 1987, 325: 31-36.[2]Vigilant, L., Stoneking, M., Harpending, H. et al., African populations and the evolution of human mitochondrial DNA, Science, 1997, 253: 1503-1507.[3]Cavalli-Sforza, L. L., Piazza, M. P., The History and Geography of Human Genes, Princeton: Princeton University Press, 1994.[4]Brooks, A. S., Wood, B., Paleoanthropology, The Chinese side of the story, Nature, 1990, 344: 288-289.[5]Li, T., Etler, D. A., New middle Pleistocene hominid crania from Yunxian in China, Nature, 1992, 357: 404-407.[6]Wu, X. Z., Poirier, F. E., Human Evolution in China, Oxford: Oxford University Press, 1995.[7]Etler, D. A., The fossil evidence for human evolution in Asia, Annu. Rev. Anthropol., 1996, 25: 275-301.[8]Wolpoff, M. H., Interpretations of multiregional evolution, Science, 1996, 274: 704-707.[9]Stringer, C. B., Andrew, P., Genetic and fossil evidence for the origin of modern humans, Science ,1988, 239: 1263-1268.[10]Wilson, A. C.,Cann, R. L., The recent African genesis of humans, Scientific American, 1992, (4): 68-75.[11]Weng, Z., Yuan, Y., Du, R., Analysis of the genetic structure of human populations in China, Acta Anthropol. Sin. (in Chi-nese)1989, 8: 261-268.[12]Zhao, T., Zhang, G., Zhu, Y. et al., The distribution of immunoglobulin Gm allotypes in forty Chinese populations, Acta Anthropol. Sin. (in Chinese), 1986, 6: 1-8.[13]Chu, J. Y., Huang, W., Kuang, S. Q. et al., Genetic relationship of populations in China, Proc. Natl. Acad. Sci., 1998, 95: 11763-11768.[14]Jobling, M. A., Tyler-Smith, C., Fathers and sons: the Y chromosome and human evolution, Trends in Genetics,1995, 11: 449-455.[15]Oefner, P. J., Underhill, P. A., Comparative DNA sequencing by denaturing high-performance liquid chromatography (DHPLC), Am. J. Hum. Genet., 1995, 57: A266.[16]Oefner, P. J., Underhill, P. A., DNA mutation detection

  18. Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population

    Science.gov (United States)

    Li, Dan; Wang, Siying; Ye, Hongfei; Tang, Yating; Qiu, Xiaodi; Fan, Qi; Rong, Xianfang; Liu, Xin; Chen, Yuhong; Yang, Jin

    2016-01-01

    Purpose This study aimed to investigate the genetic effects underlying non-familial sporadic congenital cataract (SCC). Methods We collected DNA samples from 74 patients with SCC and 20 patients with traumatic cataract (TC) in an age-matched group and performed genomic sequencing of 61 lens-related genes with target region capture and next-generation sequencing (NGS). The suspected SCC variants were validated with MassARRAY and Sanger sequencing. DNA samples from 103 healthy subjects were used as additional controls in the confirmation examination. Results By filtering against common variants in public databases and those associated with TC cases, we identified 23 SCC-specific variants in 17 genes from 19 patients, which were predicted to be functional. These mutations were further confirmed by examination of the 103 healthy controls. Among the mutated genes, CRYBB3 had the highest mutation frequency with mutations detected four times in four patients, followed by EPHA2, NHS, and WDR36, the mutation of which were detected two times in two patients. We observed that the four patients with CRYBB3 mutations had three different cataract phenotypes. Conclusions From this study, we concluded the clinical and genetic heterogeneity of SCC. This is the first study to report broad spectrum genotyping for patients with SCC. PMID:27307692

  19. Review - Critical Han Studies

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    Zhiguo Ye

    2013-12-01

    Full Text Available Review of: Thomas Mullaney, James Leibold, Stéphane Gros, and Eric Armand Vanden Bussche (eds. 2012. Critical Han Studies: The History, Representation, and Identity of China's Majority. Berkeley, Calif: University of California Press. This path-breaking volume is an academic collaboration that emerged out of the "Critical Han Studies Conference and Workshop" at Stanford University in April 2008. Eleven scholars contributed to the question of what it means to be 'Han' in China, both historically and at present. Constituting over ninety percent of China's population, the Han are not only the largest ethnic group in China, but are also one of the largest categories of collective identity in the world. Despite this, the dominant Han group has so far eluded careful scholarly scrutiny, with the Han often referred to as an unmarked majority category in contemporary China. This volume challenges such conventional views by conceptualizing new interdisciplinary approaches to the question of Hanness. The eleven essays of the volume are divided into three themes: 'Han and China', 'The Problem of Han Origins', and 'The Problem of Han Formations'. The first theme, comprised of four essays, analyzes the ties that bind the category of Han to those of Chinese ethnicity, race, and polity. Kevin Carrico in "Recentering China: The Cantonese in and Beyond the Han" questions a single, unitary Hanness that he believes conceals "countless other perceived and imagined lines of differentiation" (25. The study examines how multiple identities...

  20. CHRNA3 Polymorphism Modifies Lung Adenocarcinoma Risk in the Chinese Han Population

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    Ping He

    2014-03-01

    Full Text Available Recent genome-wide association studies (GWASs have identified 15q25.1 as a lung cancer susceptibility locus. Here, we sought to explore the direct carcinogenic effects of genetic variants in this region on the risk of developing lung adenocarcinoma (ADC. Five common SNPs (rs8034191, rs16969968, rs1051730, rs938682, and rs8042374 spanning the 15q25.1 locus were assayed in a case-control study examining a cohort of 301 lung ADCs and 318 healthy controls. Stratification analysis by gender, smoking status, and tumor, node, metastasis (TNM classification, was performed. In addition, sections from ADC tissue and normal tissue adjacent to tumors were stained with an anti-CHRNA3 (cholinergic receptor nicotinic α3 antibody by immunohistochemistry in 81 cases. Our results demonstrate that rs8042374, a variant of the CHRNA3 gene, is associated with an increased risk of ADC with an OR of 1.76 (95% CI: 1.17–2.65, p = 0.024. This variant was linked to a greater risk of ADC in female nonsmokers (OR (95% CI: 1.81 (1.05–3.12, p = 0.032 and female stage I + II cases (OR (95% CI: 1.92 (1.03–3.57, p = 0.039. Although located within the same gene, rs938682 showed protective effects for smokers, stage III + IV cases, and male stage III + IV cases. Additionally, the CHRNA3 protein level in ADC tissue was slightly higher than in the surrounding normal lung tissue, based on immunohistochemical analysis. Our results suggest that the CHRNA3 polymorphism functions as a genetic modifier of the risk of developing lung ADC in the Chinese population, particularly in nonsmoking females.

  1. Genetic variants in PCSK1 gene are associated with the risk of coronary artery disease in type 2 diabetes in a Chinese Han population: a case control study.

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    Xiaowei Wei

    Full Text Available BACKGROUND: Insulin and glucagon-like peptide 1 (GLP-1, converted by proprotein convertase 1 (PC1/3 from proinsulin and proglucagon, are associated with type 2 diabetes (T2DM and coronary artery disease (CAD. The aim of this study is to investigate the association of PCSK1 gene, which encodes PC1/3, with the risk of CAD in Chinese patients with T2DM. METHODS: We selected and genotyped 5 haplotype-tagging single nucleotide polymorphisms (SNPs at PCSK1 gene (across 39873bp locus in a case-control study of Chinese Han population involving 425 diabetic patients (62.1% male, mean age 63.2 years with CAD as positive cases and 258 diabetic patients (44.2% male, mean age 62.0 years without CAD as controls. RESULTS: The allele frequencies at rs3811951 were significantly different between cases and controls (30.7% vs. 37.2%, with the allele G associated with decreased risk for CAD (OR = 0.75, 95% CI = 0.59-0.94, p = 0.013. In recessive inheritance mode, the carriers of GG had a lower risk (OR = 0.50, 95%CI = 0.31-0.82, p = 0.005, even after adjusted for gender, age, BMI and smoking (OR = 0.43, 95%CI = 0.24-0.77, p = 0.004. The carriers of the minor allele A at rs156019 had a higher risk (OR = 1.66, 95%CI = 1.10-2.50, p = 0.016 after adjustment in dominant inheritance mode. The SNP rs6234 was also significantly associated with CAD risk in women, with the carriers of the minor allele G at rs6234 associated with a reduced CAD risk in recessive inheritance mode (OR = 0.42, 95% CI = 0.18-0.95, p = 0.036 after adjustment. CONCLUSIONS: Our results found that common genetic variants in PCSK1 were associated with CAD in Chinese patients with T2DM.

  2. Mitochondrial DNA Haplogroup Background Affects LHON, but Not Suspected LHON, in Chinese Patients

    OpenAIRE

    Zhang, A-Mei; Jia, Xiaoyun; Bi, Rui; Salas, Antonio; Li, Shiqiang; Xiao, Xueshan; Wang, Panfeng; Guo, Xiangming; Kong, Qing-Peng; Zhang, Qingjiong; Yao, Yong-Gang

    2011-01-01

    Recent studies have shown that mtDNA background could affect the clinical expression of Leber hereditary optic neuropathy (LHON). We analyzed the mitochondrial DNA (mtDNA) variation of 304 Chinese patients with m.11778G>A (sample #1) and of 843 suspected LHON patients who lack the three primary mutations (sample #2) to discern mtDNA haplogroup effect on disease onset. Haplogroup frequencies in the patient group was compared to frequencies in the general Han Chinese population (n = 1,689; samp...

  3. Genetic Variants of Retinoic Acid Receptor-Related Orphan Receptor Alpha Determine Susceptibility to Type 2 Diabetes Mellitus in Han Chinese

    Science.gov (United States)

    Zhang, Yuwei; Liu, Yulan; Liu, Yin; Zhang, Yanjie; Su, Zhiguang

    2016-01-01

    Retinoic acid receptor-related orphan receptor alpha (RORA) plays a key role in the regulation of lipid and glucose metabolism and insulin expression that are implicated in the development of type 2 diabetes mellitus (T2DM). However, the effects of genetic variants in the RORA gene on the susceptibility to T2DM remain unknown. Nine tagging single-nucleotide polymorphisms (SNPs) were screened by using the SNaPshot method in 427 patients with T2DM and 408 normal controls. Association between genotypes and haplotypes derived from these SNPs with T2DM was analyzed using different genetic models. Allele and genotype frequencies at rs10851685 were significantly different between T2DM patients and control subjects (allele: p = 0.009, Odds ratios (OR) = 1.36 [95% Confidence intervals (CI) = 1.08–1.72]; genotype: p = 0.029). The minor allele T, at rs10851685, was potentially associated with an increased risk of T2DM in the dominant model, displaying OR of 1.38 (95% CI: 1.04–1.82, p = 0.025) in subjects with genotypes TA+TT vs. AA. In haplotype analysis, we observed that haplotypes GGTGTAACT, GGTGTAACC, and GATATAACT were significantly associated with increased risk of T2DM, while haplotypes GATGAAGTT, AGTGAAGTT, and AATGAAATT were protective against T2DM. These data suggest that the genetic variation in RORA might determine a Chinese Han individual’s susceptibility to T2DM. PMID:27556492

  4. Genetic Variants of Retinoic Acid Receptor-Related Orphan Receptor Alpha Determine Susceptibility to Type 2 Diabetes Mellitus in Han Chinese.

    Science.gov (United States)

    Zhang, Yuwei; Liu, Yulan; Liu, Yin; Zhang, Yanjie; Su, Zhiguang

    2016-01-01

    Retinoic acid receptor-related orphan receptor alpha (RORA) plays a key role in the regulation of lipid and glucose metabolism and insulin expression that are implicated in the development of type 2 diabetes mellitus (T2DM). However, the effects of genetic variants in the RORA gene on the susceptibility to T2DM remain unknown. Nine tagging single-nucleotide polymorphisms (SNPs) were screened by using the SNaPshot method in 427 patients with T2DM and 408 normal controls. Association between genotypes and haplotypes derived from these SNPs with T2DM was analyzed using different genetic models. Allele and genotype frequencies at rs10851685 were significantly different between T2DM patients and control subjects (allele: p = 0.009, Odds ratios (OR) = 1.36 [95% Confidence intervals (CI) = 1.08-1.72]; genotype: p = 0.029). The minor allele T, at rs10851685, was potentially associated with an increased risk of T2DM in the dominant model, displaying OR of 1.38 (95% CI: 1.04-1.82, p = 0.025) in subjects with genotypes TA+TT vs. AA. In haplotype analysis, we observed that haplotypes GGTGTAACT, GGTGTAACC, and GATATAACT were significantly associated with increased risk of T2DM, while haplotypes GATGAAGTT, AGTGAAGTT, and AATGAAATT were protective against T2DM. These data suggest that the genetic variation in RORA might determine a Chinese Han individual's susceptibility to T2DM. PMID:27556492

  5. Validation of type 2 diabetes risk variants identified by genome-wide association studies in Han Chinese population: a replication study and meta-analysis.

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    Yi-Cheng Chang

    Full Text Available BACKGROUND: Several genome-wide association studies (GWAS involving European populations have successfully identified risk genetic variants associated with type 2 diabetes mellitus (T2DM. However, the effects conferred by these variants in Han Chinese population have not yet been fully elucidated. METHODS: We analyzed the effects of 24 risk genetic variants with reported associations from European GWAS in 3,040 Han Chinese subjects in Taiwan (including 1,520 T2DM cases and 1,520 controls. The discriminative power of the prediction models with and without genotype scores was compared. We further meta-analyzed the association of these variants with T2DM by pooling all candidate-gene association studies conducted in Han Chinese. RESULTS: Five risk variants in IGF2BP2 (rs4402960, rs1470579, CDKAL1 (rs10946398, SLC30A8 (rs13266634, and HHEX (rs1111875 genes were nominally associated with T2DM in our samples. The odds ratio was 2.22 (95% confidence interval, 1.81-2.73, P34 as compared with subjects with the lowest quartile (score<29. The incoporation of genotype score into the predictive model increased the C-statistics from 0.627 to 0.657 (P<0.0001. These estimates are very close to those observed in European populations. Gene-environment interaction analysis showed a significant interaction between rs13266634 in SLC30A8 gene and age on T2DM risk (P<0.0001. Further meta-analysis pooling 20 studies in Han Chinese confirmed the association of 10 genetic variants in IGF2BP2, CDKAL1, JAZF1, SCL30A8, HHEX, TCF7L2, EXT2, and FTO genes with T2DM. The effect sizes conferred by these risk variants in Han Chinese were similar to those observed in Europeans but the allele frequencies differ substantially between two populations. CONCLUSION: We confirmed the association of 10 variants identified by European GWAS with T2DM in Han Chinese population. The incorporation of genotype scores into the prediction model led to a small but significant improvement in T2DM

  6. Meta-analysis of 5,10-methylenetetrahydrofolate reductase gene polymorphism as a risk factor for ischemic cerebrovascular disease in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Hua Bai

    2011-01-01

    OBJECTIVE: To assess whether 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism(-genotype or T allele) is a risk factor for ischemic cerebrovascular disease (ICVD).DATA SOURCES: MEDLINE and PubMed databases from September 1997 to December 2009 were searched for case-control studies that examined MTHFR genotype in human ICVD using "MTHFR, gene, polymorphism, and ischemic cerebrovascular disease" as search kev words.J I UU T JCLCU I 1Urv: cigmeen associatea stuaies were identified.1 he methods used to collect relevant information factors were similar between case and control groups, and diagnosis of ischemic cerebrovascular disease was in accordance with Trial of ORG 10172 in Acute Stroke Treatment criteria classification, with some referring to European Stroke Diagnostic Criteria.Quality of all included studies was evaluated, and meta-analysis was conducted using RevMan4.2 software (Cochrane Collaboration, http://www.cochrane-handbook.orq) following strict screenina.MAIN UU r UUMt MLAJUrrts: I ne correlation Detween M 1 Hi-H gene I I genotype or T allele and ICVD was determined.RESULTS: Eighteen studies involving 4 295 patients with ICVD and 6 169 control subjects were included for this meta-analysis.There was a significant difference in MTHFR gene TT aenotvoe or T auele frequency(X2=15.31, 9.156, P U.U5) in the Uhinese Han population.CONCLUSION: Results from the present meta-analysis suggested that the MTHFR gene TT genotype or T allele is a risk factor for ICVD.However, the-genotype or T allele is not a risk factor for ICVD in the Chinese Han population.

  7. Genetic Variation in the REL Gene Increases Risk of Behcet's Disease in a Chinese Han Population but That of PRKCQ Does Not.

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    Feilan Chen

    Full Text Available Genome-wide association studies (GWAS and candidate gene studies have identified the REL and PRKCQ genes as risk loci for various autoimmune diseases. The purpose of the present study was to investigate the association of the REL and PRKCQ genes with Behcet's disease (BD in a Chinese Han population. A case-control study was conducted on three single nucleotide polymorphisms (SNPs, rs13031237, rs702873, and rs842647 of the REL gene and three SNPs (rs4750316, rs11258747, and rs947474 of the PRKCQ gene using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP in a total of 623 BD patients and 1,074 healthy controls. Multiple variables were assessed, including age, sex distribution, and extra-ocular findings. In the present study, the frequencies of rs842647 GG genotypes and rs842647 G alleles were significantly higher in patients than in controls and those of the rs842647 AG genotypes were lower in patients than in controls [GG genotype: Bonferroni corrected P-value for gender adjustment (Pc(a = 0.0074, odds ratio (OR = 1.63; G allele: Pc(a = 0.0072, OR = 1.57; AG genotype: Pc(a = 0.024, OR = 0.63, respectively]. No statistically significant differences in the frequencies of rs702873, rs13031237, rs4750316, rs11258747, and rs947474 between BD patients and controls were observed. Stratification analysis indicated that the REL rs842647 polymorphism was associated with BD patients with skin lesions. No significant association of the other five SNPs between BD patients with other extra-ocular findings, including genital ulcer, arthritis, and positive pathergy test results was found. The REL rs842647 polymorphism may be a susceptibility factor for BD pathogenesis and skin lesions, which indicate that c-Rel may be involved in the pathogenesis and skin lesions of BD through the NF-κB pathway.

  8. Systematic functional study of cytochrome P450 2D6 promoter polymorphisms in the Chinese Han population.

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    Xueli Gong

    Full Text Available The promoter polymorphisms of drug-metabolizing genes can lead to interindividual differences in gene expression, which may result in adverse drug effects and therapeutic failure. Based on the database of CYP2D6 gene polymorphisms in the Chinese Han population established by our group, we functionally characterized the single nucleotide polymorphisms (SNPs of the promoter region and corresponding haplotypes in this population. Using site-directed mutagenesis, all the five SNPs identified and ten haplotypes with a frequency equal to or greater than 0.01 in the population were constructed on a luciferase reporter system. Dual luciferase reporter systems were used to analyze regulatory activity. The activity produced by Haplo3(-2183G>A, -1775A>G, -1589G>C, -1431C>T, -1000G>A, -678A>G, Haplo8(-2065G>A, -2058T>G, -1775A>G, -1589G>C, -1235G>A, -678A>G and MU3(-498C>A was 0.7-, 0.7-, 1.2- times respectively compared with the wild type in human hepatoma cell lines(p<0.05. These findings might be useful for optimizing pharmacotherapy and the design of personalized medicine.

  9. Associations of educational attainment, occupation, social class and major depressive disorder among Han Chinese women.

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    Jianguo Shi

    Full Text Available BACKGROUND: The prevalence of major depressive disorder (MDD is higher in those with low levels of educational attainment, the unemployed and those with low social status. However the extent to which these factors cause MDD is unclear. Most of the available data comes from studies in developed countries, and these findings may not extrapolate to developing countries. Examining the relationship between MDD and socio economic status in China is likely to add to the debate because of the radical economic and social changes occurring in China over the last 30 years. PRINCIPAL FINDINGS: We report results from 3,639 Chinese women with recurrent MDD and 3,800 controls. Highly significant odds ratios (ORs were observed between MDD and full time employment (OR = 0.36, 95% CI = 0.25-0.46, logP = 78, social status (OR = 0.83, 95% CI = 0.77-0.87, logP = 13.3 and education attainment (OR = 0.90, 95% CI = 0.86-0.90, logP = 6.8. We found a monotonic relationship between increasing age and increasing levels of educational attainment. Those with only primary school education have significantly more episodes of MDD (mean 6.5, P-value = 0.009 and have a clinically more severe disorder, while those with higher educational attainment are likely to manifest more comorbid anxiety disorders. CONCLUSIONS: In China lower socioeconomic position is associated with increased rates of MDD, as it is elsewhere in the world. Significantly more episodes of MDD occur among those with lower educational attainment (rather than longer episodes of disease, consistent with the hypothesis that the lower socioeconomic position increases the likelihood of developing MDD. The phenomenology of MDD varies according to the degree of educational attainment: higher educational attainment not only appears to protect against MDD but alters its presentation, to a more anxious phenotype.

  10. Mitochondrial DNA haplogroup background affects LHON, but not suspected LHON, in Chinese patients.

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    A-Mei Zhang

    Full Text Available Recent studies have shown that mtDNA background could affect the clinical expression of Leber hereditary optic neuropathy (LHON. We analyzed the mitochondrial DNA (mtDNA variation of 304 Chinese patients with m.11778G>A (sample #1 and of 843 suspected LHON patients who lack the three primary mutations (sample #2 to discern mtDNA haplogroup effect on disease onset. Haplogroup frequencies in the patient group was compared to frequencies in the general Han Chinese population (n = 1,689; sample #3. The overall matrilineal composition of the suspected LHON population resembles that of the general Han Chinese population, suggesting no association with mtDNA haplogroup. In contrast, analysis of these LHON patients confirms mtDNA haplogroup effect on LHON. Specifically, the LHON sample significantly differs from the general Han Chinese and suspected LHON populations by harboring an extremely lower frequency of haplogroup R9, in particular of its main sub-haplogroup F (#1 vs. #3, P-value = 1.46×10(-17, OR = 0.051, 95% CI: 0.016-0.162; #1 vs. #2, P-value = 4.44×10(-17, OR = 0.049, 95% CI: 0.015-0.154; in both cases, adjusted P-value A but not suspected LHON. Haplogroup F has a protective effect against LHON, while M7b is a risk factor.

  11. Gene-gene interaction of erythropoietin gene polymorphisms and diabetic retinopathy in Chinese Han.

    Science.gov (United States)

    Fan, YanFei; Fu, Yin-Yu; Chen, Zhi; Hu, Yuan-Yuan; Shen, Jie

    2016-08-01

    The aim of this study was to investigate the association of three single nucleotide polymorphisms in the erythropoietin gene polymorphisms with diabetic retinopathy and additional role of gene-gene interaction on diabetic retinopathy risk. A total of 1193 patients (579 men, 614 women) with type 2 diabetes mellitus were selected, including 397 diabetic retinopathy patients and 796 controls (type 2 diabetes mellitus patients without diabetic retinopathy); the mean age of all participants was 56.7 ± 13.9 years. Three single nucleotide polymorphisms were selected: rs507392, rs1617640, and rs551238. The t-test was used for comparison of erythropoietin protein level erythropoietin levels in patients having different erythropoietin genotypes. Logistic regression model was used to examine the association between three single nucleotide polymorphisms and diabetic retinopathy. Odds ratio (OR) and 95% confident interval (95% CI) were calculated. Generalized multifactor dimensionality reduction was employed to analyze the impact of interaction among three single nucleotide polymorphisms on CVD risk. After covariates adjustment, the carriers of homozygous mutant of three single nucleotide polymorphisms have higher diabetic retinopathy risk than those with wild-type homozygotes, OR (95% CI) were 2.04 (1.12-2.35), 1.87 (1.10-2.41) and 1.15 (1.06-1.76), respectively. Generalized multifactor dimensionality reduction model indicated a significant three-locus model (p = 0.0010) involving rs507392, rs1617640, and rs551238. Overall, the three-locus models had a cross-validation consistency of 10 of 10, and had the testing accuracy of 60.72%. Subjects with TC or CC-TG or GG-AC or CC genotype have the highest diabetic retinopathy risk. In conclusion, our results support an important association of rs507392, rs1617640 and rs551238 minor allele of erythropoietin with increased diabetic retinopathy risk, and additional interaction among three single nucleotide polymorphisms. PMID

  12. CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population.

    Science.gov (United States)

    Zhao, Yun-Jing; Wang, Yue-Ping; Yang, Wen-Zhu; Sun, Hong-Wei; Ma, Hong-Wei; Zhao, Ya-Ru

    2015-11-01

    Speech sound disorder is the most common communication disorder. Some investigations support the possibility that the CNTNAP2 gene might be involved in the pathogenesis of speech-related diseases. To investigate single-nucleotide polymorphisms in the CNTNAP2 gene, 300 unrelated speech sound disorder patients and 200 normal controls were included in the study. Five single-nucleotide polymorphisms were amplified and directly sequenced. Significant differences were found in the genotype (P = .0003) and allele (P = .0056) frequencies of rs2538976 between patients and controls. The excess frequency of the A allele in the patient group remained significant after Bonferroni correction (P = .0280). A significant haplotype association with rs2710102T/+rs17236239A/+2538976A/+2710117A (P = 4.10e-006) was identified. A neighboring single-nucleotide polymorphism, rs10608123, was found in complete linkage disequilibrium with rs2538976, and the genotypes exactly corresponded to each other. The authors propose that these CNTNAP2 variants increase the susceptibility to speech sound disorder. The single-nucleotide polymorphisms rs10608123 and rs2538976 may merge into one single-nucleotide polymorphism. PMID:25895914

  13. Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    WANG Fang; HAN Xue-yao; REN Qian; ZHANG Xiu-ying; HAN Ling-chuan; LUO Ying-ying; ZHOU Xiang-hai; JI Li-nong

    2009-01-01

    Background KCNJ11, ABCC8, PPARG, and HNF4A have been found to be associated with type 2 diabetes in populations with different genetic backgrounds. The aim of this study was to test, in a Chinese Han population from Beijing, whether the genetic variants in these four genes were associated with genetic predisposition to type 2 diabetes.Methods We studied the association of four representative SNPs in KCNJ11, ABCC8, PPARG and HNF4A by genotyping them using ABI SnaPshot(R) Multiplex System in 400 unrelated type 2 diabetic patients and 400 unrelated normoglycaemic subjects. Results rs5219(E23K) in KCNJ11 was associated with genetic susceptibility to type 2 diabetes (OR=1.400 with 95% Cl 1.117 1.755, P=0.004 under an additive model, OR=-1.652 with 95% Cl 1.086 2.513, P=0.019 under a recessive model,and OR=1.521 with 95% Cl 1.089 2.123, P=0.014 under a dominant model) after adjusting for sex and body mass index (BMI). We did not find evidence of association for ABCC8 rs1799854, PPARG rs1801282 (Pro12Ala) and HNF4A rs2144908. Genotype-phenotype correlation analysis revealed that rs1799854 in ABCC8 was associated with 2-hour postprandial insulin secretion (P=0.005) after adjusting for sex, age and BMI. Although no interactions between the four variants on the risk of type 2 diabetes were detected, the multiplicative interaction between PPARG Pro12Ala and HNF4A rs2144908 was found to be associated with 2-hour postprandial insulin (P=-0.004 under an additive model for rs2144908;and P=0.001 under a dominant model for rs2144908) after adjusting for age, sex and BMI, assuming a dominant model for PPARG Pro12Ala.Conclusions Our study replicated the association of rs5219 in KCNJ11 with type 2 diabetes in Chinese Han population in Beijing. And we also observed that ABCC8 as well as the interaction between PPARG and HNF4A may contribute to post-challenge insulin secretion.

  14. Association Study of N-Methyl-D-Aspartate Receptor Subunit 2B (GRIN2B Polymorphisms and Schizophrenia Symptoms in the Han Chinese Population.

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    Yongfeng Yang

    Full Text Available Schizophrenia (SZ is a common and complex psychiatric disorder that has a significant genetic component. The glutamatergic system is the major excitatory neurotransmitter system in the central nervous system, and is mediated by N-methyl-D-aspartate (NMDA receptors. Disturbances in this system have been hypothesized to play a major role in SZ pathogenesis. Several studies have revealed that the NMDA receptor subunit 2B (GRIN2B potentially associates with SZ and its psychiatric symptoms. In this study, we performed a case-control study to identify polymorphisms of the GRIN2B gene that may confer susceptibility to SZ in the Han Chinese population. Thirty-four single nucleotide polymorphisms (SNPs were genotyped in 528 paranoid SZ patients and 528 control subjects. A significant association was observed in allele and genotype between SZ and controls at rs2098469 (χ2 = 8.425 and 4.994; p = 0.025 and 0.014, respectively. Significant associations were found in the allele at rs12319804 (χ2 = 4.436; p = 0.035, as well as in the genotype at rs12820037 and rs7298664 between SZ and controls (χ2 = 11.162 and 38.204; p = 0.003 and 4.27×10(-8, respectively. After applying the Bonferroni correction, rs7298664 still had significant genotype associations with SZ (p = 1.71×10(-7. In addition, rs2098469 genotype and allele frequencies, and 12820037 allele frequencies were nominally associated with SZ. Three haplotypes, CGA (rs10845849-rs12319804-rs10845851, CC (rs12582848-rs7952915, and AAGAC (rs2041986-rs11055665-rs7314376-rs7297101-rs2098469, had significant differences between SZ and controls (χ2 = 4.324, 4.582, and 4.492; p = 0.037, 0.032, and 0.034, respectively. In addition, three SNPs, rs2098469, rs12820037, and rs7298664, were significantly associated with cognition factors PANSS subscores in SZ (F = 16.799, 7.112, and 13.357; p = 0.000, 0.017, and 0.000, respectively. In conclusion, our study provides novel evidence for an association between GRIN2B

  15. Association Study of N-Methyl-D-Aspartate Receptor Subunit 2B (GRIN2B) Polymorphisms and Schizophrenia Symptoms in the Han Chinese Population

    Science.gov (United States)

    Zhang, Hongxing; Yang, Ge; Wang, Xiujuan; Ding, Minli; Jiang, Tianzi; Lv, Luxian

    2015-01-01

    Schizophrenia (SZ) is a common and complex psychiatric disorder that has a significant genetic component. The glutamatergic system is the major excitatory neurotransmitter system in the central nervous system, and is mediated by N-methyl-D-aspartate (NMDA) receptors. Disturbances in this system have been hypothesized to play a major role in SZ pathogenesis. Several studies have revealed that the NMDA receptor subunit 2B (GRIN2B) potentially associates with SZ and its psychiatric symptoms. In this study, we performed a case–control study to identify polymorphisms of the GRIN2B gene that may confer susceptibility to SZ in the Han Chinese population. Thirty-four single nucleotide polymorphisms (SNPs) were genotyped in 528 paranoid SZ patients and 528 control subjects. A significant association was observed in allele and genotype between SZ and controls at rs2098469 (χ2 = 8.425 and 4.994; p = 0.025 and 0.014, respectively). Significant associations were found in the allele at rs12319804 (χ2 = 4.436; p = 0.035), as well as in the genotype at rs12820037 and rs7298664 between SZ and controls (χ2 = 11.162 and 38.204; p = 0.003 and 4.27×10-8, respectively). After applying the Bonferroni correction, rs7298664 still had significant genotype associations with SZ (p = 1.71×10-7). In addition, rs2098469 genotype and allele frequencies, and 12820037 allele frequencies were nominally associated with SZ. Three haplotypes, CGA (rs10845849—rs12319804—rs10845851), CC (rs12582848—rs7952915), and AAGAC (rs2041986—rs11055665—rs7314376—rs7297101—rs2098469), had significant differences between SZ and controls (χ2 = 4.324, 4.582, and 4.492; p = 0.037, 0.032, and 0.034, respectively). In addition, three SNPs, rs2098469, rs12820037, and rs7298664, were significantly associated with cognition factors PANSS subscores in SZ (F = 16.799, 7.112, and 13.357; p = 0.000, 0.017, and 0.000, respectively). In conclusion, our study provides novel evidence for an association between

  16. Anthropometric measures of 9-to 10-year-old native tibetan children living at 3700 and 4300m above sea level and han Chinese living at 3700m

    DEFF Research Database (Denmark)

    Bianba, B.; Yangzong, Y.; Gonggalanzi, G.;

    2015-01-01

    school children aged 9 to 10 years were conducted in Lhasa in 2005 and Tingri in 2007. Conventional age-And sex-specific cutoff values were used for defining underweight, normal weight, overweight, or obesity, whereas stunting was defined from sex-specific height-for-Age z-scores (2.0). The prevalence of...... found in 14.6%and 35.7%, respectively, of Tingri children, and near null among Han Chinese and native Tibetans in Lhasa. In logistic regression analyses, socioeconomic status and diet did not substantially change the observed crude association (total effect) (odds ratio [OR]=3.3; 95% confidence interval...... Tibetan children living at a higher residential altitude (Tingri) than the lower residential altitude (Lhasa), in addition to being higher among Han Chinese children than Tibetan children living at the same residential altitude (Lhasa). Thus, physical growth according to age, in terms of both height and...

  17. Association of Common Genetic Variants in Mitogen-activated Protein Kinase Kinase Kinase Kinase 4 with Type 2 Diabetes Mellitus in a Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    Ting-Ting Li; Hong Qiao; Hui-Xin Tong; Tian-Wei Zhuang; Tong-Tong Wang

    2016-01-01

    Background:A study has identified several novel susceptibility variants of the mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4) gene for type 2 diabetes mellitus (T2DM) within the German population.Among the variants,five single nucleotide polymorphisms (SNPs) of MAP4K4 (rs1003376,rs11674694,rs2236935,rs2236936,and rs6543087) showed significant association with T2DM or diabetes-related quantitative traits.We aimed to evaluate whether common SNPs in the MAP4K4 gene were associated with T2DM in the Chinese population.Methods:Five candidate SNPs were genotyped in 996 patients newly diagnosed with T2DM and in 976 control subjects,using the SNPscanTM method.All subjects were recruited from the Second Affiliated Hospital,Harbin Medical University from October 2010 to September 2013.We evaluated the T2DM risk conferred by individual SNPs and haplotypes using logistic analysis,and the association between the five SNPs and metabolic traits in the subgroups.Results:Of the five variants,SNP rs2236935T/C was significantly associated with T2DM in this study population (odds ratio =1.293;95% confidence interval:1.034-1.619,P =0.025).In addition,among the controls,rs 1003376 was significantly associated with an increased body mass index (P =0.045) and homeostatic model assessment-insulin resistance (P =0.037).Conclusions:MAP4K4 gene is associated with T2DM in a Chinese Han population,and MAP4K4 gene variants may contribute to the risk toward the development of T2DM.

  18. AB200. Association of rs3129878 and rs498422in the HLA region with non-obstructive azoospermia in the Han Chinese population

    OpenAIRE

    Zou, Shasha; Song, Pingping; Chen, Tingting; Jianhua CHEN; He, Xiaojin; Xu, Peng(Academy of Mathematics and Systems Science, Chinese Academy of Sciences, 100190, Beijing, China); Liang, Ming; Luo, Kailing; Zhu, Xiaobin; Tian, Erpo; Du, Qiang; Wen, Zujia; Li, Zhiqiang; Wang, Meng; Sha, Yanwei

    2014-01-01

    Objective The previous genome-wide association study (GWAS) of non-obstructive azoospermia (NOA) in the Han Chinese populations identified two NOA-risk loci (rs498422 and rs3129878) within the HLA region, and provided strong evidence for the genetic influence of male infertility. A further case-control study found that only rs3129878 remained to be significantly associated with NOA in the Japanese population. Therefore, we conducted the association study to further validate whether the risk o...

  19. AB186. Association study between polymorphisms of PRMT6, PEX10, SOX5, and non-obstructive azoospermia in the Han Chinese population

    OpenAIRE

    Hu, Hongliang

    2014-01-01

    A previous genomewide association study of non-obstructive azoospermia (NOA) in the Han Chinese population identified three risk loci (rs12097821, rs2477686, and rs10842262) and provided strong evidence for a genetic influence in male infertility. However, recently, a follow-up study of these single nucleotide polymorphism (SNP) loci in the Japanese population showed that none of them were significantly associated with NOA. Therefore, we conducted an association study, consisting of 550 NOA c...

  20. The (SNP) of multi-drug resistance 1 protein (MDR1,P-glycoprotein) in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    DanLI; Guo-liangZHANG; XinWANG; Xiu-yunBU

    2004-01-01

    AIM: To investigate the single nucleotide polymorphism (SNP) of multi-drug resistance 1 protein (MDR1, P-glycoprotein) in the Chinese Han population. METHODS'. DNA was extracted from 200 p,L heparin-anticoagulated whole blood using QIAamp Blood Kit. A polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) was used for the detection of C3435T SNP. The PCR product of 248 bp was digested with

  1. Smoking and Alzheimer's disease among Mongolian and Han Chinese aged 55 years and over living in the Inner Mongolia farming area of China

    Institute of Scientific and Technical Information of China (English)

    Chunyu Zhang; Lin Da; Shigang Zhao; Desheng Wang; Guangming Niu; Huriletemuer

    2012-01-01

    Residents aged 55 years or older from 27 communities and two settlements in Xilingol League of Inner Mongolia were selected for participation in an Alzheimer's disease epidemiological investigation from June 2008 to June 2009, including 3 259 Mongolians and 5 887 Han Chinese.The Mongolian subjects in the Alzheimer's disease group were at age of 55 years or older (on average), and more of them were male, illiterate and/or had a history of coronary artery disease and/or diabetes compared with the Mongolian subjects in the non-Alzheimer's disease group. The Han Chinese subjects in the Alzheimer's disease group were at age of 55 years or older (on average) and more of them were women, illiterate and/or had a history of coronary artery disease,and less of them had a history of alcohol consumption compared with the non-Alzheimer's disease group. Non-conditional multivariate stepwise logistic regression identified that male gender,increasing age and having a history of diabetes and/or coronary heart disease were associated with higher odds of Alzheimer's disease among Mongolians while having an educational background was associated with lower odds (OR = 0.259, 95%CI 0.174-0.386). Among the Han Chinese subjects, male gender, increasing age and having a history of coronary heart disease and/or hypertension was associated with higher odds of Alzheimer's disease, while having an educational background was associated lower odds (OR = 0.271, 95%CI 0.192-0.381). The results also indicated that extremely heavy smoking may be a risk factor for Alzheimer's disease in Mongolian males aged over 55 years. There was no significant difference in smoking habits between the Mongolian and Han Chinese subjects with Alzheimer's disease.

  2. A Replication Study for the Association of rs726252 in PAPPA2 with Developmental Dysplasia of the Hip in Chinese Han Population

    OpenAIRE

    2014-01-01

    Developmental dysplasia of the hip (DDH) is a common developmental hip disorder, which ranges from mild acetabulum malformation to irreducible hip dislocation. A previous study suggested a significant association of pregnancy-associated plasma protein-A2 (PAPPA2) with DDH susceptibility in Chinese Han population. But with the consideration of the sample size, the association was still debatable. To confirm the association of the reported single nucleotide polymorphism (SNP) in PAPPA2, rs72625...

  3. A meta-analysis of the association between TNF-α -308G>A polymorphism and type 2 diabetes mellitus in Han Chinese population.

    Directory of Open Access Journals (Sweden)

    Zheng-hui Liu

    Full Text Available OBJECTIVE: A meta-analysis was applied to evaluate the associations between tumor necrosis factor-α (TNF-α -308G>A (rs1800629 polymorphism and type 2 diabetes mellitus (T2DM. METHODS: Hardy-Weinberg equilibrium (HWE was employed to test genetic equilibrium among the genotypes of the selected literature. Power analysis was performed with the Power and Sample Size Calculation (PS program. A fixed or random effect model was used on the basis of heterogeneity. Publication bias was quantified and examined with the Begg's funnel plot test and Egger's linear regression test. The meta-analysis was performed with Review Manager 5.1 and Stata 11.0. RESULTS: There were 10 studies including 1425 T2DM patients and 1116 healthy control subjects involved in this meta-analysis. No significant publication bias was found in the studies. The pooled ORs (95% CIs for TNF-α -308G>A of A vs. G allele and GA+AA vs. GG genotype were 1.63 (1.17-2.25 and 1.47 (1.17-1.85, respectively. CONCLUSION: This meta-analysis result suggested that TNF-α -308G>A polymorphism was strongly associated with T2DM risk, and A allele at this locus might be a susceptibility allele for the development of T2DM in Han Chinese population.

  4. Polymorphisms in Four Genes (KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963) and Their Correlation with Type 2 Diabetes Mellitus in Han Chinese in Henan Province, China.

    Science.gov (United States)

    Gao, Kaiping; Wang, Jinjin; Li, Linlin; Zhai, Yujia; Ren, Yongcheng; You, Haifei; Wang, Bingyuan; Wu, Xuli; Li, Jianna; Liu, Zichen; Li, Xiong; Huang, Yaxin; Luo, Xin-Ping; Hu, Dongsheng; Ohno, Kinji; Wang, Chongjian

    2016-03-01

    Genetic variants at KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963 have been associated with type 2 diabetes mellitus (T2DM), but the results are contradictory in Chinese populations. The aim of the present study was to investigate the association of these four SNPs with T2DM in a large population of Han Chinese at Henan province, China. Seven-hundred-thirty-six patients with T2DM (cases) and Seven-hundred-sixty-eight healthy glucose-tolerant controls were genotyped for KCNQ1 rs151290, KLF14 rs972283, GCKR rs780094 and MTNR1B rs10830963. The association of genetic variants in these four genes with T2DM was analyzed using multivariate logistic regression. Genotypes and allele distributions of KCNQ1 rs151290 were significantly different between the cases and controls (p KLF14 rs972283, GCKR rs780094 or MTNR1B rs10830963 and T2DM were detected. The AC and CC genotypes and the C allele of rs151290 in KCNQ1 may be risk factors for T2DM in Han Chinese in Henan province. PMID:26927145

  5. Genetic polymorphisms in MMP 2, 3, 7, and 9 genes and the susceptibility and clinical outcome of cervical cancer in a Chinese Han population.

    Science.gov (United States)

    Xie, Beibei; Zhang, Zhen; Wang, Hui; Chen, Zhaojie; Wang, Yongsheng; Liang, Huazheng; Yang, Gaoyuan; Yang, Xingsheng; Zhang, Haiyan

    2016-04-01

    Matrix metalloproteases (MMPs) are proteolytic enzymes that contribute to all stages of tumor progression, including the invasion and metastasis. However, there are no data about the role of MMP polymorphism in the development of cervical cancer. A hospital-based case-control study was conducted in 230 patients with cervical cancer and 230 healthy controls to investigate the possible association between the MMP2 rs243865, MMP3 rs3025058, MMP7 rs11568818, and MMP9 rs3918242 polymorphisms, respectively, and the risk of cervical cancer. Our results suggested that the MMP2 rs243865-1306 C/T was significantly associated with an increased risk of cervical cancer (CT vs. CC, OR = 1.46; 95 % CI 1.18-3.55; P = 0.032; TT vs. CC, OR = 1.72; 95 % CI 1.28-4.02; P = 0.031; CT + TT vs. CC, OR = 1.43; 95 % CI 1.21-3.44; P = 0.029). Similarly, the MMP7 rs11568818-181A/G genotypes can also elevate the risk of cervical cancer in all genetic models. However, the genotype and allele frequencies of MMP3 rs3025058 and MMP9 rs3918242 polymorphisms in cervical cancer patients were not significantly different from controls. Further analysis showed MMP2 rs243865 and MMP7 rs11568818 genotypes were associated with advanced tumor stages of cervical cancer patients. More interestingly, the MMP2 rs243865 and MMP7 rs11568818 genotype was statistically significantly associated with a poor survival in cervical cancer patients. Our results showed that the MMP2 rs243865 and MMP7 rs11568818 genotypes e were associated with increased susceptibility and development of cervical cancer in Chinese Han population. PMID:26526578

  6. Chinese word processing in nonfluent aphasic patients

    Institute of Scientific and Technical Information of China (English)

    LI Wen-bing; ZHANG Tong; SONG Lu-ping; YANG Jie; FENG Hong

    2009-01-01

    Background Chinese nonfluent aphasic patients experience apparent speech production deficit,but it remains less known in which part of Chinese speech production this deficit occurs.The present study aimed to examine the ability of nonfluent aphasic patients in Chinese orthography,phonological and semantic processing via two experiments.Experiment Ⅰ disclosed the general pattem of deficit of Chinese nonfluent aphasic patients in speech production.Experiment Ⅱ tested whether this deficit occurs in orthography,phonological or semantic processing.Methods The present study adopted neuropsychological testing methods to compare speech production and Chinese word processing between nonfluent aphasic patients (the patient group) and normal individuals (the control group).Character reading and word reading tasks were used to test speech production.Chinese radical decision,rhyme decision and semantic decision tasks were used to examine word processing.Reaction time and the correct answer rate were collected.Results The patient group had a longer reaction time and was more prone to errors in both character reading and word reading tasks than was the control group.For the patient group,there was no difference between the reaction time of character reading and word reading,the error rate of the former was higher than the latter.In radical decision task the decision task,the reaction time and error rate to the rhyme "ang" were higher for the aphasic patients.In the semantic decision task the reaction time to characters in the category of animals was higher for the aphasic patients,yet the error rate was not significantly different between the two groups.Conclusions Nonfluent aphasic patients seemingly have decreased speed of speech production and an increased error rate.There is a deficit in phonological processing of aphasic patients while their semantic processing may remain intact.

  7. Measuring the volume of the hippocampus in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To measure the volume of hippocampal formation (HPF) in healthy Chinese Han adults and provide database for researching on a variety of diseases associated with alteration of hippocampal structure. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range=18 to 70) recruited from 15 hospitals were divided into 5 groups, i. e., Group A (age range=18 to 30), B (age range=31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range = 61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. The margin of HPF were outlined manually for each side. Using multiple linear regression, relationships between hippocampal volume and sex, age, weight and height were analyzed respectively. Independent two sample t test was used to study the differences between male and female and between left and right. The differences of hippocampal volume among age groups were analyzed by ANOVA. Results: Hippocampal volume for left and right side were (4752±659) and (5032±660) mm3 respectively. The volume of HPF is significant correlated with gender and age, but without relevance to height and weight (left and right r=0.283,0.311, F=30.127,37.050,P3 respectively for men, and (4647±624) and (4904±630) mm3 for women. The right hippocampal volume was larger than the left (t=7.030,6.696, P3 respectively, while the volumes of the fight hippocampus were (5340± 647), (5276±582), (5264±620), (5133±661), (4894±699) mm3 respectively. Among age groups, the differences were statistically significant (left and right F=5.737,7.607, P0.05). There was no significant difference of hippocampal among different groups in women (P>0.05). Conclusions: With high-resolution MRI, the volume of the HPF was accurately measured, so as to provide the basic data for research of the hippocampus

  8. Network-assisted analysis of primary Sjögren’s syndrome GWAS data in Han Chinese

    Science.gov (United States)

    Fang, Kechi; Zhang, Kunlin; Wang, Jing

    2015-01-01

    Primary Sjögren’s syndrome (pSS) is a complex autoimmune disorder. So far, genetic research in pSS has lagged far behind and the underlying biological mechanism is unclear. Further exploring existing genome-wide association study (GWAS) data is urgently expected to uncover disease-related gene combination patterns. Herein, we conducted a network-based analysis by integrating pSS GWAS in Han Chinese with a protein-protein interactions network to identify pSS candidate genes. After module detection and evaluation, 8 dense modules covering 40 genes were obtained for further functional annotation. Additional 31 MHC genes with significant gene-level P-values (sigMHC-gene) were also remained. The combined module genes and sigMHC-genes, a total of 71 genes, were denoted as pSS candidate genes. Of these pSS candidates, 14 genes had been reported to be associated with any of pSS, RA, and SLE, including STAT4, GTF2I, HLA-DPB1, HLA-DRB1, PTTG1, HLA-DQB1, MBL2, TAP2, CFLAR, NFKBIE, HLA-DRA, APOM, HLA-DQA2 and NOTCH4. This is the first report of the network-assisted analysis for pSS GWAS data to explore combined gene patterns associated with pSS. Our study suggests that network-assisted analysis is a useful approach to gaining further insights into the biology of associated genes and providing important clues for future research into pSS etiology. PMID:26686423

  9. Developed and evaluated a multiplex mRNA profiling system for body fluid identification in Chinese Han population.

    Science.gov (United States)

    Song, Feng; Luo, Haibo; Hou, Yiping

    2015-10-01

    In forensic casework, identification the cellular origin from a biological sample is crucial to the case investigation and reconstruction in crime scene. DNA/RNA co-extraction for STR typing and human body fluids identification has been proposed as an efficient and comprehensive assay for forensic analysis. Several cell-specific messenger RNA (mRNA) markers for identification of the body fluids have been proposed by previous studies. In this study, a novel multiplex mRNA profiling system included 19 markers was developed and performed by reverse transcription endpoint polymerase chain reaction (RT-PCR). The multiplex combined 3 housekeeping gene markers and 16 cell-specific markers that have been used to identify five types of human body fluids: peripheral blood, semen, saliva, vaginal secretions and menstrual blood. The specificity, sensitivity, stability and detectability of the mixture were explored in our study. Majority of the cell-specific mRNA markers showed high specificity, although cross-reactivity was observed sporadically. Specific profiling for per body fluid was obtained. Moreover, the interpretation guidelines for inference of body fluid types were performed according to the A. Lindenbergh et al. The scoring guidelines can be applied to any RNA multiplex, which was based on six different scoring categories (observed, observed and fits, sporadically observed and fits, not observed, sporadically observed, not reliable, and non-specific due to high input). The simultaneous extraction of DNA showed positive full or partial profiling results of all samples. It demonstrated that the approach of combined STR-profiling and RNA profiling was suitable and reliable to detect the donor and origin of human body fluids in Chinese Han population. PMID:26311108

  10. Association of Single Nucleotide Polymorphisms in the Apoptosis-Related Genes TP63 and CD40 with Risk for Lung Cancer in a Chinese Han Population.

    Science.gov (United States)

    Tang, WenJun; Xue, Li; Yan, QiXing; Cai, ShaoXi; Bai, YuJie; Lin, Li; Lin, BiLin; Huang, MingLong; Yi, GuoHui; Li, Hui

    2016-01-01

    Apoptosis plays a critical role in tumorigenesis. TP63 inhibits the pro-apoptosis function of TP53, and CD40 increases expression of anti-apoptotic proteins. Two single nucleotide polymorphisms (SNPs), rs6790167 (g243059A>G) in intron 9 of TP63 and rs1535045 (g6194C>T) in intron 1 of CD40 respectively, may affect the susceptibility of lung cancer. To evaluate the association of these SNPs with lung cancer, we performed a case-control study with 258 patients, including 149 adenocarcinoma and 47 small cell lung cancer, and 270 controls. Genotyping was conducted using allele-specific polymerase chain reaction and pyrosequencing. We found that rs6790167 and rs1535045 are associated with the risk of lung adenocarcinoma (P = 0.048) and small cell lung cancer (P = 0.019), respectively. Non-smoking males carrying the GG genotype of rs6790167 had higher risk for lung adenocarcinoma than individuals carrying the AA genotype (OR = 7.58, 95% CI: 2.43-23.65). Compared to the TT genotype of rs1535045, non-smoking women with the CC genotype had higher risk for lung adenocarcinoma (OR = 4.20, 95% CI: 1.34-13.12). After stratified analysis based on clinical characteristics, the frequency of the CC genotype of rs1535045 was higher in patients at I-II stages (P = 0.013) or patients whose tumor markers were negative (P = 0.003). Individuals carrying both the GG genotype of rs6790167 and the CC genotype of rs1535045 were associated with significantly higher risk for lung adenocarcinoma. Thus, the polymorphisms in the TP63 and CD40 genes are associated with lung cancer in a Chinese Han population. PMID:27063419

  11. MADD-FOLH1 Polymorphisms and Their Haplotypes with Serum Lipid Levels and the Risk of Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population

    Directory of Open Access Journals (Sweden)

    Dong-Feng Wu

    2016-04-01

    Full Text Available This study aimed to detect the association of the MADD-FOLH1 single nucleotide polymorphisms (SNPs and their haplotypes with the risk of coronary heart disease (CHD and ischemic stroke (IS in a Chinese Han population. Six SNPs of rs7395662, rs326214, rs326217, rs1051006, rs3736101, and rs7120118 were genotyped in 584 CHD and 555 IS patients, and 596 healthy controls. The genotypic and allelic frequencies of the rs7395662 SNP were different between controls and patients, and the genotypes of the rs7395662 SNP were associated with the risk of CHD and IS in different genetic models. Six main haplotypes among the rs1051006, rs326214, rs326217, rs3736101, and rs7120118 SNPs were detected in our study population, the haplotypes of G-G-T-G-C and G-A-T-G-T were associated with an increased risk of CHD and IS, respectively. The subjects with rs7395662GG genotype in controls had higher triglyceride (TG and lower high-density lipoprotein cholesterol (HDL-C levels than the subjects with AA/AG genotypes. Several SNPs interacted with alcohol consumption to influence serum TG (rs326214, rs326217, and rs7120118 and HDL-C (rs7395662 levels. The SNP of rs3736101 interacted with cigarette smoking to modify serum HDL-C levels. The SNP of rs1051006 interacted with body mass index ≥24 kg/m2 to modulate serum low-density lipoprotein cholesterol levels. The interactions of several haplotypes and alcohol consumption on the risk of CHD and IS were also observed.

  12. Association of single nucleotide polymorphisms in TCF2 with type 2 diabetes susceptibility in a Han Chinese population.

    Directory of Open Access Journals (Sweden)

    Xuelong Zhang

    Full Text Available Hepatocyte nuclear factor 1β (HNF1β, a transcription factor encoded by the transcription factor 2 gene (TCF2, plays a critical role in pancreatic cell formation and glucose homeostasis. It has been suggested that single nucleotide polymorphisms (SNPs of TCF2 are associated with susceptibility to type 2 diabetes (T2D. However, published results are inconsistent and inclusive. To further investigate the role of these common variants, we examined the association of TCF2 polymorphisms with the risk of T2D in a Han population in northeastern China. We genotyped five SNPs in 624 T2D patients and 630 healthy controls by using a SNaPshot method, and evaluated the T2D risk conferred by individual SNPs and haplotypes. In the single-locus analysis, we found that rs752010, rs4430796 and rs7501939 showed allelic differences between T2D patients and healthy controls, with an OR of 1.26 (95% CI 1.08-1.51, P = 0.003, an OR of 1.23 (95% CI 1.06-1.55, P = 0.001 and an OR of 1.28 (95% CI 1.10-1.61, P = 0.001, respectively. Genotype association analysis of each locus also revealed that the homozygous carriers of the at-risk allele had a significant increased T2D risk compared to homozygous carriers of the other allele (OR 1.78, 95% CI 1.20-2.64 for rs752010; OR 1.82, 95% CI 1.24-2.67 for rs4430796; OR 1.95, 95% CI 1.31-2.90 for rs7501939, even after Bonferroni correction for multiple comparisons. Besides, the haplotype-based analysis demonstrated that AGT in block rs752010-rs4430796-rs7501939 was associated with about 30% increase in T2D risk (OR 1.31, 95% CI 1.09-1.57, P = 0.01. Our findings suggested that TCF2 variants may be involved in T2D risk in a Han population of northeastern China. Larger studies with ethnically diverse populations are warranted to confirm the results reported in this investigation.

  13. On the Influence from Han Nationality Thinking on Chinese Grammar%论汉民族思维对汉语语法的影响

    Institute of Scientific and Technical Information of China (English)

    杨建

    2015-01-01

    The thinking and the language are closely related. Different thinking modes make the language show various characteristics. Different language structures will reflect different ways of thinking. Due to the geographical environment, national characteristics, and thousands of years of history development, the Han nationality has formed a deep meaning of thinking in character, and reflects the deep meaning thinking on the expression of the object . The Chinese grammar is the rule of Chinese structure, which is the result of Chinese abstract thinking used by Chinese people in a long term, and is close to their thinking.The deep meaning of thinking of the Han nationality is prominently reflected in Chinese grammar.%思维和语言关系密切,不同的思维模式会使语言表现出不同的特征,不同的语言结构则会体现出不同的思维方式.由于地域环境、民族特点和上千年的历史发展积淀,汉民族在思维上形成了重意的特点,在表达对象时体现出重意的思维.汉语语法是汉语的结构规则,是汉民族长期使用汉语抽象化的思维成果,与汉民族思维有着密切的关系.汉民族重意思维在汉语语法中有着突出的反映.

  14. Risk-Association of CYP11A1 Polymorphisms and Breast Cancer Among Han Chinese Women in Southern China

    Directory of Open Access Journals (Sweden)

    Minying Sun

    2012-04-01

    Full Text Available Exposure to endogenous sex hormones has been reported as a risk factor for breast cancer. The CYP11A1 gene encodes the key enzyme that catalyzes the initial and rate-limiting step in steroid hormone synthesis. In this study, the associations between single nucleotide polymorphisms (SNPs in CYP11A1 and breast cancer susceptibility were examined. Six SNPs in CYP11A1 were genotyped using the MassARRAY IPLEX platform in 530 breast cancer patients and 546 healthy controls. Association analyses based on a χ2 test and binary logistic regression were performed to determine the odds ratio (OR and 95% confidence interval (95% CI for each SNP. Two loci (rs2959008 and rs2279357 showed evidence of associations with breast cancer risk. The variant genotype C/T-C/C of rs2959008 was significantly associated with a decreased risk (age-adjusted OR, 0.75; 95% CI, 0.58–0.96; P = 0.023 compared with the wild-type TT. However, the homozygous TT variant of rs2279357 exhibited increased susceptibility to breast cancer (age-adjusted OR, 1.44; 95% CI, 1.05–1.98; P = 0.022. The locus rs2959003 also showed an appreciable effect, but no associations were observed for three other SNPs. Our results suggest that polymorphisms of CYP11A1 are related to breast cancer susceptibility in Han Chinese women of South China.

  15. Associations of Lipoprotein Lipase Gene rs326 with Changes of Lipid Profiles after a High-Carbohydrate and Low-Fat Diet in Healthy Chinese Han Youth

    OpenAIRE

    Xing-chun Zhu; Jia Lin; Qian Wang; Hui Liu; Li Qiu; Ding-zhi Fang

    2014-01-01

    To investigate the effects of a high-carbohydrate and low-fat (HC/LF) diet on plasma lipids and apolipoproteins (Apos) of healthy Chinese Han youth with different genotypes of lipoprotein lipase gene (LPL) rs326, 56 subjects were given a washout diet of 30.1% fat and 54.1% carbohydrate for seven days, followed by the HC/LF diet of 13.8% fat and 70.1% carbohydrate for six days, with no total energy restriction. Plasma glucose, triglyceride (TG), total cholesterol (TC), high density lipoprotein...

  16. The mitochondrial tRNA(Gln) T4353C mutation may not be associated with essential hypertension in Han Chinese population.

    Science.gov (United States)

    Meng, Xing; Pei, Hui; Lan, Chao

    2016-09-01

    We reported here the possible role of a mitochondrial tRNA mutation: T4353C in clinical expression of essential hypertension in Chinese population. The human mammalian mitochondrial tRNA database was used to analyze the conservation index of this mutation between different species. Moreover, phylogenetic analysis showed that the T4353C mutation belonged to human mitochondrial haplogroup HV, a West Eurasian haplogroup found throughout Western Asia and Eastern European but was infrequent in China. In addition, structural prediction of the T4353C mutation indicated that this transition did not alter the secondary structure of tRNA(Gln). Together, our data indicated that the T4353C mutation occurred infrequent and may not be associated with essential hypertension in Han Chinese population. PMID:25693701

  17. Genetic polymorphism of the 26 short tandem repeat loci in the Chinese Hebei Han population using two commercial forensic kits.

    Science.gov (United States)

    Lei, Liang; Xu, Jie; Du, Qingqing; Fu, Lihong; Zhang, Xiaojing; Yu, Feng; Ma, Chunling; Cong, Bin; Li, Shujin

    2015-01-01

    We determined the allele frequencies and forensic parameters for the 26 short tandem repeat (STR) autosomal markers in two commercial kits (the Investigator HDplex and AmpFLSTR(®) Identifiler(®) systems) for 183 unrelated individuals from the Han population of the Hebei Province of China. The 26 STRs were all in Hardy-Weinberg equilibrium. No linkage disequilibrium was detected between any pair of loci. The combined power of discrimination and the combined power of exclusion for the 26 STR loci were 1-7.74E-31 and 1-1.21E-11, respectively. Six rare alleles of D10S2325 were identified and named 20, 21, 22, 23, 24, and 31. All the length of the six rare alleles were out of the range of allelic ladder. We calculated the population pairwise genetic distance based on the allele frequencies, using published population data including German, central Polish, south Dutch, northeastern Polish, south Brazilian, Korean, Sichuan Han of China, and Shanghai Han of China. Also we examined the population pairwise genetic distance of loci included in Identifiler system between Hebei Han and other ethnic population of China. These 26 autosomal STR loci could provide highly informative polymorphic data for paternity testing and forensic identification in the Hebei Han population in China. Because they are all in linkage equilibrium, they could be used together to solve deficient kinship cases or cases with mutations. PMID:25262358

  18. Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population

    Science.gov (United States)

    He, Miao; Bian, Zhuan

    2016-01-01

    Background Grainyhead-like-3 (GRHL3) was recently identified as the second gene that, when mutated, can leads to Van der Woude syndrome, which is characterized by orofacial clefts (OFC) and lower lip pits. In addition, a missense variant (rs41268753) in GRHL3 confers risk for non-syndromic cleft palate cases of European ancestry. Together with interferon regulatory factor 6 (IRF6), GRHL3 may be associated with the risk of NSOFC which awaits for being verified across different ethnic populations. Objective The aim of this study was to investigate the possible relationship between common functional variants in GRHL3 and susceptibility to NSOFC, especially cleft palate cases, in a Han Chinese population, one of the ethnic groups with the highest birth prevalence of orofacial clefting. Methods Because the allele frequency for rs41268753 minor alleles was zero in our Chinese population, we selected functional single nucleotide polymorphisms (SNPs) spanning GRHL3 with minor allele frequencies (MAFs) > 5% in the Han Chinese population. Two SNPs which meet the above criteria were then genotyped in a case-control cohort comprising 1145 individuals using the TaqMan 5′-exonuclease allelic discrimination assay. Results SNPs rs2486668 and rs545809 were used in this study. Overall genotype and allele distributions of both SNPs in general and stratified genotyping analyses revealed no statistically significant differences between cases and controls. Further logistic regression analyses using different genetic models failed to reveal any evidence that these markers influence risk to NSOFC. Conclusions The variant rs41268753 in GRHL3 increases the risk for cleft palate in European population, but our findings failed to detect the link between two GRHL3 SNPs (rs2486668 and rs545809) and risk to NSOFC in the Han Chinese cohort. Although the present study did not provide any evidence that common functional variants in GRHL3 may contribute to NSOFC etiology in this Chinese population

  19. Association of immunophenotypic characterization of peripheral lymphocytes with different clinical phenotypes of tuberculosis in Chinese Han children

    Institute of Scientific and Technical Information of China (English)

    XIAO Jing; SHEN A-dong; SUN Lin; WU Xi-rong; MIAO Qing; JIAO Wei-wei; SHEN Chen; SHEN Dan; FENG Wei-xing; LIU Fang

    2012-01-01

    Background Very few researchers have studied the changes in peripheral lymphocyte patterns in adult tuberculosis (TB) and even less researches have been conducted in pediatric TB.In this study,we obtained blood samples from 114 Chinese pediatric TB patients and 116 matched controls to study the association of phenotypic subsets of peripheral lymphocytes with different clinical phenotypes of TB.Methods The subjects were classified as the control group and the TB patients group which were further divided into a pulmonary TB group and an extra-pulmonary TB group (more serious than the former).The distribution of lymphocyte subpopulations,including T lymphocytes,CD4+ T lymphocytes,CD8+ T lymphocytes,B lymphocytes,and natural killer (NK) cells,were quantitatively analyzed by flow cytometry.Results Compared to the healthy controls,TB infection was associated with significantly higher B cell (P <0.0001),and lower T cell (P=0.029) and NK cell (P <0.0001) percentages.Compared to pulmonary TB patients,extra-pulmonary TB was associated with relatively higher B cell (P=0.073),and lower T cell percentages (P=-0.021),higher purified protein derivative (PPD) negative rate (P=-0.061),and poorer PPD response (P=-0.010).Most pulmonary TB cases were primary pulmonary TB (89.1%),and most extra-pulmonary TB cases had TB meningitis (72.1%).Conclusions This study demonstrates changes in the lymhocyte distribution in children suffering from different clinical phenotypes of TB; such as primary pulmonary TB,and TB meningitis.These patterns may have significance in understanding the pathogenesis and prognostic markers of the disease,and for developing immunomodulatory modalities of therapy.

  20. Association between HLA-B51 alleles and Behcet's disease in Chinese Han nationality%HLA-B51与白塞病相关性研究

    Institute of Scientific and Technical Information of China (English)

    李晓建; 陈明华; 郑志忠

    2009-01-01

    Objective To investigate the possible association between HLA-B51 alleles and Behcet's disease (BD). Methods Totally, 61 Chinese patients of Han nationality, who were diagnosed with BD according to the International Study Group (ISG) criteria, were recruited. The control cohort consisted of 100 healthy individuals. Blood samples were obtained from all the subjects. PCR-sequenee specific primers (SSPs) were used to for the genotyping of HLA-B51 alleles (HLA-B5101-HLA-B5109). Results Com- pared with the control group (11 positive, 11% ), the frequency of HLA-B51 (18 positive, 29.5% ) was sig- nificantly increased in BD patients (χ2=8.79, P<0.01, RR=3.39). The HLA-B51-positive patients and controls consistently carried HLA-B5101 allele with no other alleles observed. There were 15 males and 3 females in HLA-B51 positive patients, 22 males and 21 females in HLA-B51-negative patients, and signifi- cant differences in gender distribution was observed between HLA-B51-positive and negative patients (P<0.05 ). Moreover, the average age of onset in HLA-B51-positive patients significantly differed from that in HLA-B51-negative patients (28.4±10 years vs 37.3±12 years, P<0.05). However, no significant differ- ences were noticed in the clinical types, course, skin lesions, prevalence of genital ulcer, eye damage, joint involvement, or pathergy reaction between HLA-B51-positive and -negative patients (P0.05). Conclu- sions This study supports that HLA-B5101 allele is associated not only with the development of BD, but also with the gender and onset age of patients with BD of Chinese Han nationality.%目的 探讨HLA-B51等位基因和白塞病的相关性.方法 应用PCR-SSP(序列特异性引物)技术对61例中国汉族白塞病患者及100例正常人对照的HLA-B5101~HLA-B5109等位基因进行检测.结果 与对照组(11例阳性,11%)相比,白塞病组HLA-B51频率(18例阳性,29.5%)明显增高(χ2=8.79,P<0.01,RR=3.39),且白塞病组与对照组中HLA-B51

  1. Association study of polymorphisms in FOXO3, AKT1 and IGF-2R genes with human longevity in a Han Chinese population.

    Science.gov (United States)

    Li, Ning; Luo, Huaichao; Liu, Xiaoqi; Ma, Shi; Lin, He; Chen, Rong; Hao, Fang; Zhang, Dingding

    2016-01-01

    FOXO3, AKT1 and IGF-2R are critical members of the insulin/IGF-1 signaling pathway. Previous studies showed that polymorphisms (SNPs) in FOXO3, AKT1 and IGF-2R were associated with human longevity in Caucasian population. However, the association of these SNPs in different ethnic groups is often inconsistent. Here, we investigated the association of genetic variants in three genes with human longevity in Han Chinese population. Twelve SNPs from FOXO3, AKT1 and IGF-2R were selected and genotyped in 1202 long-lived individuals (nonagenarians and centenarians) and younger individuals. Rs9486902 of FOXO3 was found to be associated with human longevity in both genders combined in this study (allelic P = 0.002, corrected P = 0.024). The other eleven SNPs were not significantly associated with human longevity in Han Chinese population. The haplotypes TTCTT, CCTTC and CTCCT of FOXO3 as well as GGTCGG and GGTCAG of AKT1 were shown to have a significant difference between case and control (P =0.006, 2.78×10-5, 4.68×10-6, 0.003,0.005, respectively). The estimated prevalence of diabetes and prediabetes in long-lived individuals was significantly lower than in common adult populations (P = 0.001, 2.3×10-26) .Therefore, the search for longevity-associated genes provides the identification of new potential targets beneficial for the treatment of diabetes. PMID:26683100

  2. The long rather than the short allele of 5-HTTLPR predisposes Han Chinese to anxiety and reduced connectivity between prefrontal cortex and amygdala

    Institute of Scientific and Technical Information of China (English)

    Haixia Long; Bing Liu; Bing Hou; Chao Wang; Jin Li; Wen Qin; Dawei Wang

    2013-01-01

    The short allele of the serotonin-transporter gene is associated with higher risk for anxiety and depression in Caucasians,but this association is still unclear in Asians.Here,we addressed this issue using behavioral and multi-modal MRI approaches in a large group of healthy Han Chinese participants (n =233).In contrast to findings in Caucasians,we found that long-allele (L) carriers had higher anxiety scores.In another group (n =64) experiencing significant levels of depression or anxiety,the L-allele frequency was also significantly higher.In healthy participants,L-carriers had reduced functional and anatomical connectivity between the amygdala and prefrontal cortex (PFC),which was correlated with anxiety or depression scores.Our findings demonstrated that in Chinese Han participants,in contrast to Caucasians,the L-allele confers vulnerability to anxiety or depression and weakens top-down emotional control between the PFC and amygdala.Therefore,ethnic background should be taken into account in generelated studies and their potential clinical applications.

  3. Genetic relationship between serum pregnancy-associated plasma protein-A gene polymorphism and ischemic cerebrovascular disease in a Northern Han Chinese population☆

    OpenAIRE

    Wang, Haiping; Song, Yan; Zhang, Chen; Zhan, Jingjing; Zhang, Rui; Wang, Haiji

    2012-01-01

    The present study recruited 193 patients with ischemic cerebrovascular disease from Inpatient and Outpatient Departments at the Affiliated Hospital of Qingdao University Medical College, China from August 2008 to May 2010, as well as 120 healthy volunteers from the Medical Examination Center at the Affiliated Hospital of Qingdao University Medical College, China, who served as controls for this study. Patients and control subjects were from the Han population in northern China. Enzyme- linked...

  4. Association of single nucleotide polymorphisms in the 3'UTR of ERAP1 gene with essential hypertension in the Northeastern Han Chinese.

    Science.gov (United States)

    Yang, Sibao; Liu, Xueyan; Gao, Yongjian; Ding, Mei; Li, Bing; Sun, Huan; He, Yuquan; Yang, Ping

    2015-04-15

    Endoplasmic reticulum aminopeptidase 1 (ERAP1) may be involved in blood pressure regulation by inactivation of angiotensin II and generation of bradykinin. Our previous study with cDNA microarray indicated that the expression of ERAP1 is down-regulated in essential hypertension (EH) patients. Since the 3'untranslated region (3'UTR) is known to play an important role in the post-transcriptional regulation by influencing the stability and translation process of mRNA, the present study aims to identify single nucleotide polymorphisms (SNPs) in the 3'UTR of ERAP1 gene in a case-control study among the Northeastern Han Chinese through PCR-sequencing, and analyze the association with EH. Our results further verified the lower expression level of ERAP1 in the peripheral blood cells in patients with EH (917.12±517.57 vs. 1506.59±1214.09pg/mL, P=0.011). Four SNPs, 3'UTR-761G>A, 3'UTR-787C>T, 3'UTR-1008A>C and 3'UTR-1055A>G, were identified in the 3'UTR of ERAP1. 3'UTR-1008A>C and 3'UTR-1055A>G were in almost complete linkage disequilibrium. Association analysis showed that the genotypic and allelic frequencies of 3'UTR-1008A>C and 3'UTR-1055A>G were significantly different between EH and the control groups. Logistic regression and haplotypic analysis indicated that alleles of E20-1037C and E20-1084G as well as haplotype of C-G were the risk factors of EH (PC and 3'UTR-1055A>G as well as the haplotypes C-G and A-A were significantly different between EH and the control in the younger group (C and 3'UTR-1055A>G polymorphisms of ERAP1 gene were associated with EH, especially in the younger population, and the haplotype C-G could be the independent marker of EH. PMID:25665737

  5. Population pharmacokinetics of propofol in Chinese patients

    Institute of Scientific and Technical Information of China (English)

    LIYu-Hong; RUIJian-Zhong; ZHOUYong-Gang; WANGLi-Qin; FUSu-E; YANGJian-Jun; LIuFu-Kun; HUShu-Ya; WENQuan; XUJian-Guo

    2003-01-01

    AIM:To analyze population pharmacokinetics of propofol in Chinese surgical patients using a nonlinear mixedeffect model (NONMEM) program and to quantitate the effects of covariance of gender, age, and body weight. METHODS: The population pharmacokinetics of propofol was investigated in 76 selective surgical patients (37 males and 39 females aged 19-77a, weighing 39-86kg). A total of 1439 blood samples were analyzed using NONMEM(NONMEM Projeft Group, University of California, San Francisco, CA). Interindividual variability was estimated fro clearances and distribution volumes. The effects of age, body weight, and gender were in vestigated. RESULTS: The pharmacokinetics of propofol in Chinese patients was best described by a three-compartment pharmacokinetic model. Body weight was found to be a significant factor for the elimination clearance, the two inter-compartmental clearances, and the volume of the central compartment. The volumes of the shallow peripheral compartment and deep peripheral compartment remain constant for all individuals. The estimates of these parameters for a 60-kg adult were 1.56L/min, 0.737L/min, 0.360L/min, 12.1L, 43L, and 213L, respectively. For old patients, the elimination clearance and volume of the central compartment decreased. CONCLUSION:The pharmacokinetics of propofol in Chinese patients can be well described by a standard three-compartment pharmacokinetic model. Inclusion of age and body weight as covariances significantly improved the model. Adjusting pharmacokinetics to the individual patients should improve the precision of target-controlled infusion system.

  6. Association between Polymorphisms in Interleukins 4 and 13 Genes and Chronic Periodontitis in a Han Chinese Population

    OpenAIRE

    Dong Chen; Tian-liang Zhang; Xia Wang

    2016-01-01

    Chronic periodontitis (CP) is one of the most common chronic inflammatory diseases and cytokines play a pivotal role in the regulation of immune response. Interleukin-4 (IL-4) and interleukin-13 (IL-13) are anti-inflammatory cytokines and several polymorphisms of them have been proved involved in periodontal disease. This study aimed to evaluate whether three single nucleotide polymorphisms (SNPs), rs2070874 and rs2243248 from IL4 and rs1800925 from IL13, are associated with CP in a Han Chine...

  7. Association Between P2RX7 Gene and Hepatocellular Carcinoma Susceptibility: A Case-Control Study in a Chinese Han Population.

    Science.gov (United States)

    Duan, Shaobo; Yu, Jie; Han, Zhiyu; Cheng, Zhigang; Liang, Ping

    2016-01-01

    BACKGROUND Hepatocellular carcinoma (HCC) is one of the most common types of liver cancer. It is hypothesized that P2RX7 genetic polymorphisms have strong association with HCC susceptibility. Therefore, a case-control study was designed and performed to verify the association between P2RX7 gene polymorphisms and HCC susceptibility. MATERIAL AND METHODS A total of 646 subjects were recruited in our study, including 323 HCC patients and 323 healthy controls. Five gene polymorphisms, -762C>T (rs2393799), 946G>A (rs28360457), 1513A>C (rs3751143), 1068G>A (rs1718119), and 1096C>G (rs2230911), were selected. Odds ratio (ORs) and 95% confidence interval (CI) were used to quantify the association between P2RX7 gene polymorphisms and the susceptibility to HCC. All tests were performed using SPSS 20 and a 2-sided P value of less than 0.05 was considered to be statistically significant. RESULTS Our results suggest that allelic frequencies of these 5 SNPs all conformed to Hardy-Weinberg equilibrium (HWE). There was no significant difference in genotype and allele distributions of -762C>T and 1096C>G between the case group and the control group. However, an increased risk of HCC was associated with 946G>A (A vs. G: OR=1.48, 95%CI=1.09-2.01, P=0.013; GA+AA vs. GG: OR=1.46, 95%CI=1.03-2.07, P=0.033). A similar increased risk was associated with 1513A>C polymorphism (C vs. A: OR=1.37, 95%CI=1.05-1.79, P=0.021; AC+CC vs. AA: OR=1.40, 95%CI=1.01-1.93, P=0.041). On the other hand, a decreased risk of HCC was associated with gene polymorphism of 1068G>A (A vs. G: OR=0.68, 95%CI=0.51-0.91, P=0.010; GA+AA vs. GG: OR=0.68, 95%CI=0.49-0.96, P=0.027; AA vs. GG: OR=0.42, 95%CI=0.18-0.99, P=0.048). CONCLUSIONS Our results suggest that 3 of the 5 polymorphisms of P2RX7 described above (1513A>C, 946G>A, and 1068G>A) are significantly associated with HCC susceptibility in a Chinese Han population. Studies with larger sample sizes are recommended to confirm whether our results will be applicable

  8. Population data of mitochondrial DNA HVS-I and HVS-II sequences for 208 Henan Han Chinese.

    Science.gov (United States)

    Xu, Kaikai; Hu, Shengping

    2015-07-01

    The two hypervariable segments (HVS-I and HVS-II) of mitochondrial DNA (mtDNA) control region were sequenced for a population of 208 unrelated healthy individuals sampled from Suiping County, Henan Province, China. A total of 192 different haplotypes were identified, of which 179 haplotypes were unique (93.23%). The variation of the mtDNA HVS-I and HVS-II was confined to 166 nucleotide positions, of which 115 were observed in the HVS-I and 51 in the HVS-II. The haplotype diversity and random match probability were 0.9991 and 0.0061, respectively. Following the principle of the updated East Asian mtDNA phylogeny tree, individual samples were assigned to the specific haplogroups based on the information both from control region and coding-region obtained. Haplogroup D was the most common haplogroup (25.96%). The northern China-prevalent haplogroups (A, C, D, G, M8, Y, and Z) and the southern China-prevalent haplogroups (B, F, M7, N9, and R9) accounted for 48.56% and 46.63%, respectively, of the Henan Han mtDNA gene pool. The mtDNA hypervariable region was highly polymorphic in Henan Han population. These sequences could serve as mtDNA reference data for forensic casework in Henan population as well as for population genetic study. PMID:25759193

  9. Analysis of female nasal characteristics in Chinese beautiful Han's females%中国美貌汉族女性鼻部特征的测量

    Institute of Scientific and Technical Information of China (English)

    祖青; 米丛波; 李运科; 宋美云; 杨川

    2012-01-01

    BACKGROUND: Based on nose characteristics of beautiful Chinese Han nationality female was established for diagnosis and treatment of aesthetic plastic surgery. OBJECTIVE: To explore nose aesthetic features of Chinese Han nationality beauty female through the measurement of 30 beautiful Chinese Han nationality females. METHODS: 30 cases of anteroposteriorfemale and lateral star photos were selected from fashion magazines, movies, TV series and 16 external nose indexes from 30 Chinese beautiful females were measured by using photoshop CS 3.0 software. RESULTS AND CONCLUSION: The external nose height, length, width, depth, and the proportion related to aesthetics and anatomical data from stars were obtained, it included: nose wide/nose long=1: 1.15, the nose deep/nose wide=1: 2, the nose wide/ the angular distance=1: 0.94, nose wide/quarrel spacing=1: 1.43, and the ratio was relate with each other. The results shows that the ratio between labial groove spacing with nose width of Chinese beauty female is close to golden ratio 1:0.618, and the external nose relative face is not outstanding.%背景:目前,鼻外型的美学指标尚不统一建立中国美貌汉族女性鼻部特征的数据库,可以为美容整形治疗计划的制定提供理论依据.目的:对公众广泛接受的30例中国美貌汉族女性的鼻部特征进行了测量,观察中国美貌汉族女性鼻部的美学特征.方法:选取30例时尚杂志、电影、电视剧中美女明星的正、侧位脸型的照片,利用photoshop CS 3.0软件对30例中国美貌汉族女性的16个外鼻指标进行测量分析.结果与结论:实验获得明星外鼻的长度、宽度、高度、深度和相关比例等多组美学、解剖学数据,包括:鼻宽-鼻长比为1∶1.15,鼻深-鼻宽比为1∶2,鼻宽-内眦间距比为1∶0.94,鼻宽-口角间距比为1∶1.43,且各比例相互间有一定相关性.结果证实,中国美貌女性鼻唇沟间距与鼻宽之比接近黄金比1∶0.618,外鼻相对面部不够突出.

  10. A comparison of Chinese and non-Chinese Canadian patients hospitalized with heart failure

    OpenAIRE

    Yeung, Darwin F.; Van Dyke, Nicole K; Maclagan, Laura C.; Moe, Gordon W; Shah, Baiju R.; Chiu, Maria; Lee, Douglas S; Ko, Dennis T.; Lau, Ching; Tu, Jack V.

    2013-01-01

    Background Canadians of Chinese descent, represent one of the fastest growing visible minority groups in Canada, (as well as the second largest), but relatively little is known about the clinical features of heart failure (HF) in Chinese-Canadian versus non-Chinese Canadian patients. Methods We conducted a population-based analysis of urban patients hospitalized in Ontario, Canada for the first time with a most responsible diagnosis of HF between April 1, 1995 and March 31, 2008. Among the 99...

  11. ASSOCIATION ANALYSIS OF POLYMORPHISMS OF ACE GENE AND AGT GENE WITH ESSENTIAL HYPERTENSION IN CHINESE HAN'S POPULATION

    Institute of Scientific and Technical Information of China (English)

    刘英; 周文郁; 侯淑琴; 邱长春

    1998-01-01

    Objective. To investigate whether the polymorphisms in the angiotensin converting enxyme (ACE) gene and angiotensinogen (AGT) gene are associated with essential hypertension. Methods. A case-contrul study was carried out using 103 hypertensive (HT) and 131 normotensive (NT) subjects. The insertion/daletion(I/D) polymorphism of the ACE gene and the methionine→threonine variant at position 235 (M235T) of the AGT gene were determined by the polymerase chain reaction (PCR) technique and PCR/restriction fragment length polymorphism (PCR/RFLP) analysis, respectively. Results. The differences of D allele frequency and genotype distribution of the ACE gene between NT and HT groups were statistically significant (X2= 18.12,P<0. 005). The T235 allele frequeacy of the AGT gene was 69% in NT Chinese group (approximately 1.38 to 1.64 fold that in Caucasians), and was greater in female HT than in NT (0.82 vs 0. 72, X2=8. 1,P<0.025). A corralation between M235T molecular variant of the AGT gene and I/D molecular variant of ACE gene to hypertension was found. Concluions. The possession of D allele of the ACE gene might be a marker for predisposition to hypertension. The T235 allele of the AGT gene was more common in Chinese than in Caucasians, and might contribute to the risk for hypertension in female Chinese.

  12. Haplotype data of 23 Y-chromosome markers in Minnan Han Chinese and comparison with those of 12 Y-chromosome markers.

    Science.gov (United States)

    Shang, Jie; Hu, Sheng-Ping

    2015-06-01

    We genotyped 23 Y-STR loci (DYS576, DYS389I, DYS448, DYS389II, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643, DYS393, DYS458, DYS385a/b, DYS456, and GATA-H4) in a sample of 109 unrelated male Chinese people residing in Minnan area and compared the results with those from our previous study on 12 Y-STR. The haplotype diversity and the discrimination capacity of the 23 Y-STR reached 0.9903 and 0.9725, respectively, and the genetic diversity for each locus ranged from 0.321 (DYS391) to 0.955 (DYS385). Besides, we observed a strong correlation between the number of Y-STR markers and the substantial improvement of forensic parameters used to discriminate between individuals. The results indicated that these highly polymorphic Y-STR markers were useful for human identification in forensic cases and paternity tests within the Minnan Han Chinese population. PMID:26072089

  13. A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.

    Directory of Open Access Journals (Sweden)

    Yun Liu

    Full Text Available Leukocyte telomere length (LTL is a predictor of aging and a number of age-related diseases. We performed genome-wide association studies of mean LTL in 2632 individuals,with a two-stage replication in 3917 individuals from Chinese populations. To further validate our findings, we get the results of 696 samples from a cohort of European ancestry. We identified two loci associated with LTL that map in telomerase reverse transcriptase (TERT; rs2736100, P = 1.93×10(-5 on chromosome 5p15.33 and near keratin 80 (KRT80; rs17653722, P = 6.96×10(-6 on 12q13.13. In Chinese population each C allele of rs2736100 and T allele of rs17653722 was associated with a longer mean telomere length of 0.026 and 0.059 T/S, respectively, equivalent to about 3 and 7 years of average age-related telomere attrition. Our findings provide new insights into telomere regulatory mechanism and even pathogenesis of age-related diseases.

  14. Potentially Functional Polymorphisms in POU5F1 Gene Are Associated with the Risk of Lung Cancer in Han Chinese

    Science.gov (United States)

    Niu, Rui; Wang, Yuzhuo; Zhu, Meng; Wen, Yifan; Sun, Jie; Shen, Wei; Cheng, Yang; Zhang, Jiahui; Jin, Guangfu; Ma, Hongxia; Hu, Zhibin; Shen, Hongbing; Dai, Juncheng

    2015-01-01

    POU5F1 is a key regulator of self-renewal and differentiation in embryonic stem cells and may be associated with initiation, promotion, and progression in cancer. We hypothesized that functional polymorphisms in POU5F1 may play an important role in modifying the lung cancer risk. To test this hypothesis, we conducted a case-control study to explore the association between 17 potentially functional SNPs in POU5F1 gene and the lung cancer risk in 1,341 incident lung cancer cases and 1,982 healthy controls in a Chinese population. We found that variant alleles of rs887468 and rs3130457 were significantly associated with increased risk of lung cancer after multiple comparison (OR = 1.29, 95% CI: 1.11–1.51, Pfdr = 0.017 for rs887468; OR = 1.29, 95% CI: 1.10–1.51, Pfdr = 0.034 for rs3130457, resp.). In addition, we detected a significant interaction between rs887468 genotypes and smoking status on lung cancer risk (P = 0.017). Combined analysis of these 2 SNPs showed a significant allele-dosage association between the number of risk alleles and increased risk of lung cancer (Ptrend < 0.001). These findings indicate that potentially functional polymorphisms in POU5F1 gene may contribute to lung cancer susceptibility in a Chinese population. PMID:26824036

  15. Identification of IGF1, SLC4A4, WWOX, and SFMBT1 as hypertension susceptibility genes in Han Chinese with a genome-wide gene-based association study.

    Directory of Open Access Journals (Sweden)

    Hsin-Chou Yang

    Full Text Available Hypertension is a complex disorder with high prevalence rates all over the world. We conducted the first genome-wide gene-based association scan for hypertension in a Han Chinese population. By analyzing genome-wide single-nucleotide-polymorphism data of 400 matched pairs of young-onset hypertensive patients and normotensive controls genotyped with the Illumina HumanHap550-Duo BeadChip, 100 susceptibility genes for hypertension were identified and also validated with permutation tests. Seventeen of the 100 genes exhibited differential allelic and expression distributions between patient and control groups. These genes provided a good molecular signature for classifying hypertensive patients and normotensive controls. Among the 17 genes, IGF1, SLC4A4, WWOX, and SFMBT1 were not only identified by our gene-based association scan and gene expression analysis but were also replicated by a gene-based association analysis of the Hong Kong Hypertension Study. Moreover, cis-acting expression quantitative trait loci associated with the differentially expressed genes were found and linked to hypertension. IGF1, which encodes insulin-like growth factor 1, is associated with cardiovascular disorders, metabolic syndrome, decreased body weight/size, and changes of insulin levels in mice. SLC4A4, which encodes the electrogenic sodium bicarbonate cotransporter 1, is associated with decreased body weight/size and abnormal ion homeostasis in mice. WWOX, which encodes the WW domain-containing protein, is related to hypoglycemia and hyperphosphatemia. SFMBT1, which encodes the scm-like with four MBT domains protein 1, is a novel hypertension gene. GRB14, TMEM56 and KIAA1797 exhibited highly significant differential allelic and expressed distributions between hypertensive patients and normotensive controls. GRB14 was also found relevant to blood pressure in a previous genetic association study in East Asian populations. TMEM56 and KIAA1797 may be specific to

  16. Genetic Polymorphism of Nine Non-CODIS STR Loci in Hu-nan Province-based Chinese Han Population

    Institute of Scientific and Technical Information of China (English)

    GUO Juan-juan; LIU Ying; GUO Ya-dong; YAN Jie; CHANG Yun-feng; CAI Ji-feng; LU Ting; ZHA Lagabaiyila

    2014-01-01

    Objective To determine the allelic frequency distribution and genetic parameters of nine non-CODIS DNA index systems of the short tandemrepeat (STR ) loci (D2S1772, D6S1043, D7S3048, D8S1132, D11S2368, D12S391, D13S325, D18S1364, and GATA198B05). Methods A total of 353 blood samples were collected, extracted, amplified, and analyzed fromunrelated healthy individuals of Han na-tionality in Hunan Province, China. Results O ne hundred and fourteen alleles were observed in the pop-ulation with corresponding allelic frequencies ranged from0.001 0 to 0.323 0. For all the nine non-CODIS STR loci, the observed genotypic data showed no significant deviations fromthe Hardy-W einberg equi-librium. The Ho, He, PIC, D P, and PE of the studied non-CODIS STR loci ranged from0.108 0 to 0.195 0, 0.805 0 to 0.892 0, 0.770 0 to 0.860 0, 0.925 0 to 0.966 0 and 0.607 0 to 0.780 0, respectively. Conclusion N ine non-CODIS STR loci have high degrees of polymorphisms, which may be useful in in-dividual forensic identification and parentage testing in forensic practice.

  17. Measuring the volume of insula in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the insula volume of Chinese adults of the Hah nationality and its relationship with age, which provide morphological data for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range = 18 to 70) recruited from 16 hospitals were divided into 5 groups, i.e., Group A (age range =18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range = 51 to 60), and E (age range = 61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. After three dimension data reconstruction, the volumes of bilateral insula were manually measured. The volume of bilateral insula were compared by paired sample t test. The insula volumes were compared between male and female by independent sample t test, and the differences among 5 age groups were compared by one-way ANNOVA. The relationship between the volumes of insula and age, sex or cerebral volume were analyzed using bivariate correlation, respectively. Results: The left and right side volume of insula before standarized were (7764 ± 1165) and (7387 ± 1128) mm3 respectively, after standarized were (8413 ± 1201) and (7871 ± 1140) mm3 respectively. The left insula volume were significant larger than that of fight (t=-10.565, -16.014, P3 for male, and (7393 ± 1022) mm3 and (7050 ± 1038) mm for female. The left and right insula volumes for male were larger than the female's (t=10.934,9.945,P3, female were (8043± 1054) and (7515 ± 1091 ) mm3, the left and right insula volume of male were larger than the female's(t=4.858,4.632,P3 respectively, the right were (8028 ± 1156), (7636 ± 1075), (7294 ± 986) (7249 ± 1068), (6717 ± 916) mm3 respectively, there were significant differences among 5 groups between left and right insula volume (F= -0

  18. Clinical utility and patient considerations in the use of the sitagliptin-metformin combination in Chinese patients

    Directory of Open Access Journals (Sweden)

    Du Q

    2015-02-01

    Full Text Available Qiang Du, Yan-Jun Wang, Sheng Yang, Ping HanDepartment of Endocrinology, Shengjing Hospital of China Medical University, Shenyang, Liaoning, People’s Republic of ChinaAbstract: The prevalence of diabetes mellitus (DM continues to increase each year. However, the efficacy of glucose-lowering therapies remains unsatisfactory. Moreover, the clinical characteristics and manifestations of DM in Chinese patients are different from those in Western patients. Thus, it is imperative to develop an optimal treatment protocol for lowering blood glucose levels in Chinese patients with DM. Sitagliptin has been used in People’s Republic of China, and sitagliptin and metformin combination therapy may not alter their individual pharmacokinetics. To date, several clinical trials undertaken to investigate the efficacy of sitagliptin and metformin combination therapy have revealed that it effectively controlled glycated hemoglobin, fasting plasma glucose, and postprandial plasma glucose levels to a greater extent than sitagliptin or metformin alone. In addition, the combined therapy was well tolerated and induced few side effects, which were largely mild. Furthermore, the combined therapy was easy to administer, and the patients receiving this therapy showed good compliance. Therefore, for Chinese patients with type 2 DM, sitagliptin and metformin combination therapy is preferred.Keywords: type 2 diabetes mellitus, sitagliptin, metformin

  19. Evidence for association of D1S249 locus on human chromosome 1 with the susceptibility to essential hypertension in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Essential hypertension (EH) is thought to result from theinteraction of environmental and genetic factors. The molecular genetics of EH has witnessed considerable progress during the past few years. However, the number of genes involved, their chromosomal location and the magnitude of their effect on EH susceptibility are unknown. We conducted the present study to screen susceptibility genes to essential hypertension using a genome-wide scanning method in a group of Han people from Fangshan district located in the southwest of Beijing. A case-control study and affected sibpair were performed. Genotyping was carried out using a fluorescence-based semiautomated technique on automated DNA sequencer (ABI 377, PE). The basis for the genome-screen was the ABI prism linkage mapping sets of 400 microsatellite markers (version 2, PE, Co.). PCR for amplification of markers was carried out as multiplex reactions with Ampli Taq gold (PE, Co.) following protocols developed in our laboratory. Data were exported as a text file from genotyper for subsequent two-point affected sibpair linkage analysis. The data from case-control association study showed a linkage disequilibrium between EH and marker D1S249 locus (X2 = 14.6, P = 0.002). There are 12 alleles in the D1S249 locus. The frequency of A9 allele in hypertension was higher than in normotensives, (13.6% v.s. 2.7%, X2 = 6.30, p = 0.01, OR = 4.57, 95%CI = 1.24-25.4). The data from two-point affected sibpair linkage analysis demonstrated a linkage between EH and A9 allele, P<0.05. It suggested that microsatellite marker D1S249 locus might be associated with the genetic susceptibility to essential hypertension in Han Chinese.

  20. Measuring the volume of the fourth ventricle in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the fourth ventricle volume of Chinese adults of the Han nationality and provide morphological data for the construction of database for Chinese Standard Brain. Methods: This is a clinical multi-center study. One thousand Chinese healthy volunteers (age range = 18 to 70) recruited from 15 hospitals were divided into 5 groups, i.e., Group A (age range = 18 to 30), B (age range =31 to 40), C (age range =41 to 50), D (age range =51 to 60), and E (age range =61 to 70). Each group contained 100 males and 100 females. All of the volunteers were scanned by MR using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. After three dimension data reconstruction, the volumes of the fourth ventricle were measured at sagittal view by automatic trace of Midobl. 2 combined with manual outlining. The difference of volumes of the fourth ventricle between male and female were analyzed by independent sample t test, and among age groups by ANOVA. Pearson's correlation coefficient was used to characterize the relationship between volumes of the fourth ventricle and age. Results: The fourth ventricle volumes of Group A-E were (2.1 ± 0.9), (2.1 ± 0.8), (2.2 ± 0.8), (2.1 ± 1.0) and (2.4 ± 0.8) ml respectively for male; those for female were (2.0 ± 0.7), (1.9 ± 0.6), (18 ± 0.6), (1.9 ± 0.7) and (2.0 ± 0.6) ml respectively. The fourth ventricle volumes of males were significantly larger than those of females (t=5.573, P=0.000); there were no significant differences among the female groups (F=1.788, P=0.130); there were significant differences among the male groups (F=2.639, P=0.033) and multiple comparison found that the 60 years old was the watershed with significant difference (P<0.05). Correlation between the change of males' volumes and the ages was not strong (r=0.119, P=0.008), and the females' volumes did not correlated with their ages (r=0.041,P=0.360). Conclusion: There are gender

  1. The association between gene polymorphism of TCF7L2 and type 2 diabetes in Chinese Han population: a meta-analysis.

    Directory of Open Access Journals (Sweden)

    Haoying Dou

    Full Text Available In recent years, it has been widely accepted that transcription factor 7-like 2 (TCF7L2 is associated with type 2 diabetes mellitus (T2DM in multiple ethnic groups, especially its single nucleotide polymorphisms of rs7903146C/T, rs12255372G/T and rs290487T/C. However, the results previously obtained in Chinese Han population are often inconsistent. For clearing this issue, herein we performed meta-analysis based on the reports that can be found to assess the association. In the meta-analysis, Odds ratio (OR and 95% confidence interval (95% CI were calculated with random-effect model or fixed-effect model based on the heterogeneity analysis. The quality of included studies was evaluated by using the Newcastle-Ottawa Scale. The sensitivity analysis was used to confirm the reliability and stability of the meta-analysis. In total, 20 case-control studies with 9122 cases of T2DM and 8017 controls were included. Among these case-control studies, we selected 13 ones on rs7903146 C/T, 5 ones on rs12255372 G/T, 8 ones on rs290487 T/C. The results indicated that rs7903146C/T polymorphism was significantly associated with T2DM (T vs. C, OR = 1.73, 95% CI = 1.39-2.16. There was no evidence that rs12255372G/T and rs290487T/C polymorphisms increased T2DM risk (T vs. G, OR = 1.77, 95% CI = 0.88-3.56; C vs. T, OR = 1.08, 95% CI = 0.93-1.25. Subgroup analysis of different regions proved the relationship between rs7903146C/T polymorphism and T2DM risk in both the northern and the southern China. The association of rs290487 with T2DM was affected by body mass index, whereas the association of rs7903146 and rs290487 with T2DM was influenced neither by age nor by sex. In conclusion, this study indicated that the rs7903146C/T polymorphism of the TCF7L2 gene had a significant effect on T2DM risk in Chinese Han population, with rs12255372G/T and rs290487T/C polymorphisms showing no significant effect.

  2. Evaluation of regulatory genetic variants in POU5F1 and risk of congenital heart disease in Han Chinese

    Science.gov (United States)

    Lin, Yuan; Ding, Chenyue; Zhang, Kai; Ni, Bixian; da, Min; Hu, Liang; Hu, Yuanli; Xu, Jing; Wang, Xiaowei; Chen, Yijiang; Mo, Xuming; Cui, Yugui; Shen, Hongbing; Sha, Jiahao; Liu, Jiayin; Hu, Zhibin

    2015-10-01

    OCT4 is a transcription factor of the POU family, which plays a key role in embryonic development and stem cell pluripotency. Previous studies have shown that Oct4 is required for cardiomyocyte differentiation in mice and its depletion could result in cardiac morphogenesis in embryo. However, whether the genetic variations in OCT4 coding gene, POU5F1, confer the predisposition to congenital heart disease (CHD) is unclear. This study sought to investigate the associations between low-frequency (defined here as having minor allele frequency (MAF) between 0.1%-5%) and rare (MAF below 0.1%) variants with potential function in POU5F1 and risk of CHD. We conducted association analysis in a two-stage case-control study with a total of 2,720 CHD cases and 3,331 controls in Chinese. The low-frequency variant rs3130933 was observed to be associated with a significantly increased risk of CHD [additive model: adjusted odds ratio (OR) = 2.15, adjusted P = 3.37 × 10-6]. Furthermore, luciferase activity assay showed that the variant A allele led to significantly lower expression levels as compared to the G allele. These findings indicate for the first time that low-frequency functional variant in POU5F1 may contribute to the risk of congenital heart malformations.

  3. Hans Meyer

    Czech Academy of Sciences Publication Activity Database

    Jindra, Jiří

    Červený Kostelec : Pavel Mervart, 2013 - (Šimůnek, M.; Kostlán, A.), s. 149-153 ISBN 978-80-7465-041-3. - (Studies in the History of Sciences and Humanities. 29) Institutional support: RVO:68378114 Keywords : Hans Meyer * history of science * scholars Subject RIV: AB - History

  4. Association Between Helicobacter pylori Infection and Risk of Periodontal Diseases in Han Chinese: A Case-Control Study

    OpenAIRE

    YANG Jing; Qiang ZHANG; Chen, Ming; Wu, Wu-zhou; Wang, Rong; Liu, Chang-jun; Li, Bei; Shi, Xin-Li; Du, Han-song; Tan, Hua-bing

    2016-01-01

    Background This study was performed to test the association between Helicobacter pylori (HP) and periodontal disease (PD). Material/Methods This was a case-control study in a comprehensive hospital, including all patients with newly diagnosed PD between 2012 and 2014 as cases and all patients without PD as controls, thorough periodontal examinations. Those who tested positive for HP were examined by means of polymerase chain reaction. Single and multivariate logistic regression was used to an...

  5. Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.

    Science.gov (United States)

    Ni, Bixian; Lin, Yuan; Sun, Liangdan; Zhu, Meng; Li, Zheng; Wang, Hui; Yu, Jun; Guo, Xuejiang; Zuo, Xianbo; Dong, Jing; Xia, Yankai; Wen, Yang; Wu, Hao; Li, Honggang; Zhu, Yong; Ping, Ping; Chen, Xiangfeng; Dai, Juncheng; Jiang, Yue; Xu, Peng; Du, Qiang; Yao, Bing; Weng, Ning; Lu, Hui; Wang, Zhuqing; Zhu, Xiaobin; Yang, Xiaoyu; Xiong, Chenliang; Ma, Hongxia; Jin, Guangfu; Xu, Jianfeng; Wang, Xinru; Zhou, Zuomin; Liu, Jiayin; Zhang, Xuejun; Conrad, Donald F; Hu, Zhibin; Sha, Jiahao

    2015-10-01

    Genome-wide association studies (GWAS) have identified several common loci contributing to non-obstructive azoospermia (NOA). However, a substantial fraction of NOA heritability remains undefined, especially those low-frequency [defined here as having a minor allele frequency (MAF) between 0.5 and 5%] and rare (MAF below 0.5%) variants. Here, we performed a 3-stage exome-wide association study in Han Chinese men to evaluate the role of low-frequency or rare germline variants in NOA development. The discovery stage included 962 NOA cases and 1348 healthy male controls genotyped by exome chips and was followed by a 2-stage replication with an additional 2168 cases and 5248 controls. We identified three low-frequency variants located at 6p22.2 (rs2298090 in HIST1H1E encoding p.Lys152Arg: OR = 0.30, P = 2.40 × 10(-16)) and 6p21.33 (rs200847762 in FKBPL encoding p.Pro137Leu: OR = 0.11, P = 3.77 × 10(-16); rs11754464 in MSH5: OR = 1.78, P = 3.71 × 10(-7)) associated with NOA risk after Bonferroni correction. In summary, we report an instance of newly identified signals for NOA risk in genes previously undetected through GWAS on 6p22.2-6p21.33 in a Chinese population and highlight the role of low-frequency variants with a large effect in the process of spermatogenesis. PMID:26199320

  6. Enzyme Kinetics Studies of Nucleoside Diphosphate Kinase in Human Erythrocytes and Frequency Distribution in Healthy Subjects and Transplant Recipients in Chinese Han Population

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    Rufei Shen

    2015-09-01

    Full Text Available Nucleoside diphosphate kinase (NDPK, as a house-keeping protein, involves in various molecular processes including signal transduction, energy and drug metabolism. The main objective was to investigate NDPK kinetics in human erythrocytes and to monitor the frequency distribution of NDPK activity levels in Chinese healthy subjects and transplant recipients. METHODS: NDPK activity in erythrocytes was detected by a validated ion-pair high-performance liquid chromatogram method. NDPK kinetics studies were carried out systematically. NDPK activity levels were determined in 500 healthy subjects, 250 kidney and 250 liver transplant recipients in Chinese Han population. RESULTS: Thermal and pH stability studies indicated NDPK was relatively stable at temperature 30-45ºC and pH 6.0-9.0. In substrate dependency study, the apparent Michaelis-Menten constant (Km and maximum velocity of enzymatic reaction (Vmax increased with concentration of substrates. Meanwhile, in product inhibition study, with the increasing concentration of dATP, the Vmax of dADP decreased with constant Km and Km of dGTP increased with constant Vmax. NDPK activity levels revealed a 7-fold variability and were not normally distributed in all groups. NDPK activity levels were significantly (P<0.05 higher in transplant group than those in health group. Additionally, much higher NDPK activity levels had been shown (P<0.001 in liver transplant recipients when compared to kidney transplant cases. CONCLUSIONS: NDPK kinetics studies indicated substrate dependency of NDPK and a “ping-pong” mechanism for production inhibition. Skewness distributions of NDPK activity levels were shown in the study population. The transplant recipients showed higher NDPK activity levels when compared to healthy subjects.

  7. Associations of MMP1, MMP2 and MMP3 Genes Polymorphism with Coal Workers' Pneumoconiosis in Chinese Han Population.

    Science.gov (United States)

    Ji, Xiaoming; Wang, Lijuan; Wu, Baiqun; Han, Ruhui; Han, Lei; Wang, Ting; Yang, Jingjin; Ni, Chunhui

    2015-11-01

    Coal workers' pneumoconiosis (CWP) has been associated with abnormalities in the extracellular matrix remodeling, as well as aberrant matrix metalloproteinases (MMPs) in lung tissues. We investigated the association of three functional polymorphisms in MMP gene promoters (MMP1 rs1799750, MMP2 rs2285053 and MMP3 rs522616) with the risk of CWP. A total of 693 CWP cases and 690 controls were included in a case-control study. Genotype analysis was performed by the TaqMan method. Statistically significant differences were found in distributions of MMP3 rs522616 under a recessive model (p = 0.047) between CWP cases and controls. In the stratification analysis, individuals with MMP3 rs522616 GG genotype decreased the risk of CWP (adjusted OR = 0.72, 95% CI = 0.52-0.99) compared to those with AA/AG genotype obviously, particularly among subgroups of no smokers (adjusted OR = 0.64, 95% CI = 0.41-1.00). Furthermore, serum MMP3 protein levels measured with enzyme-linked immune-sorbent assay in the control group was significantly lower than that in the CWP groups (p = 0.02). Extremely lower MMP3 among subjects with the rs522616 GG or AG genotype compared with the AA genotype carriers (p < 0.05, p < 0.01 respectively) in the normal serum. These findings indicate that the MMP3 rs522616 polymorphism may contribute to the etiology of CWP in the Chinese population and MMP3 might be a potential diagnostic biomarker for CWP, additional independent studies are warranted to validate our findings in different populations as well as in a larger series. PMID:26528997

  8. Associations of MMP1, MMP2 and MMP3 Genes Polymorphism with Coal Workers’ Pneumoconiosis in Chinese Han Population

    Science.gov (United States)

    Ji, Xiaoming; Wang, Lijuan; Wu, Baiqun; Han, Ruhui; Han, Lei; Wang, Ting; Yang, Jingjin; Ni, Chunhui

    2015-01-01

    Coal workers’ pneumoconiosis (CWP) has been associated with abnormalities in the extracellular matrix remodeling, as well as aberrant matrix metalloproteinases (MMPs) in lung tissues. We investigated the association of three functional polymorphisms in MMP gene promoters (MMP1 rs1799750, MMP2 rs2285053 and MMP3 rs522616) with the risk of CWP. A total of 693 CWP cases and 690 controls were included in a case-control study. Genotype analysis was performed by the TaqMan method. Statistically significant differences were found in distributions of MMP3 rs522616 under a recessive model (p = 0.047) between CWP cases and controls. In the stratification analysis, individuals with MMP3 rs522616 GG genotype decreased the risk of CWP (adjusted OR = 0.72, 95% CI = 0.52–0.99) compared to those with AA/AG genotype obviously, particularly among subgroups of no smokers (adjusted OR = 0.64, 95% CI = 0.41–1.00). Furthermore, serum MMP3 protein levels measured with enzyme-linked immune-sorbent assay in the control group was significantly lower than that in the CWP groups (p = 0.02). Extremely lower MMP3 among subjects with the rs522616 GG or AG genotype compared with the AA genotype carriers (p < 0.05, p < 0.01 respectively) in the normal serum. These findings indicate that the MMP3 rs522616 polymorphism may contribute to the etiology of CWP in the Chinese population and MMP3 might be a potential diagnostic biomarker for CWP, additional independent studies are warranted to validate our findings in different populations as well as in a larger series. PMID:26528997

  9. Associations of MMP1, MMP2 and MMP3 Genes Polymorphism with Coal Workers’ Pneumoconiosis in Chinese Han Population

    Directory of Open Access Journals (Sweden)

    Xiaoming Ji

    2015-10-01

    Full Text Available Coal workers’ pneumoconiosis (CWP has been associated with abnormalities in the extracellular matrix remodeling, as well as aberrant matrix metalloproteinases (MMPs in lung tissues. We investigated the association of three functional polymorphisms in MMP gene promoters (MMP1 rs1799750, MMP2 rs2285053 and MMP3 rs522616 with the risk of CWP. A total of 693 CWP cases and 690 controls were included in a case-control study. Genotype analysis was performed by the TaqMan method. Statistically significant differences were found in distributions of MMP3 rs522616 under a recessive model (p = 0.047 between CWP cases and controls. In the stratification analysis, individuals with MMP3 rs522616 GG genotype decreased the risk of CWP (adjusted OR = 0.72, 95% CI = 0.52–0.99 compared to those with AA/AG genotype obviously, particularly among subgroups of no smokers (adjusted OR = 0.64, 95% CI = 0.41–1.00. Furthermore, serum MMP3 protein levels measured with enzyme-linked immune-sorbent assay in the control group was significantly lower than that in the CWP groups (p = 0.02. Extremely lower MMP3 among subjects with the rs522616 GG or AG genotype compared with the AA genotype carriers (p < 0.05, p < 0.01 respectively in the normal serum. These findings indicate that the MMP3 rs522616 polymorphism may contribute to the etiology of CWP in the Chinese population and MMP3 might be a potential diagnostic biomarker for CWP, additional independent studies are warranted to validate our findings in different populations as well as in a larger series.

  10. Interactions Between Effects of Estrogen Receptor Gene Polymorphisms on BMD and Experiences of the First Spermorrhea in Chinese Han Boys

    Institute of Scientific and Technical Information of China (English)

    JING YIN; QIAN ZHANG; XIAO-QI HU; WEI-JING DU; AI-LING LIU; XIAO-YAN WANG; ZHI-QIN TONG; GUAN-SHENG MA

    2008-01-01

    Objective To study the interaction between polymorphisms of estrogen receptor(ER)gene and puberty on bone mineral density(BMD).Methods One hundred and forty-six boys aGEd 13-17 years were divided into two groups according to their first spermorrhea.DNA wag analyzed for Xba I and Pvu Ⅱ genotypes by PCR-RFLE BMD of the total body,forearm and lumbar spine was measured by dual-energy X-ray absorptiome TRY(DXA).The relationship between polymorphisms of ER gene and BMD in these two groups was analyzed. Results The BMD at all sites in the spermorrhea group was significantly higher than that in the un-spermorrhea group.The independent contribution of ER genotypes to BMD at two pubertal stages was analyzed after adjusting co-variables.In the un-spermorrhea group,the BMD at distal 1/10 and 1/3 forearm of those carrying PP genotype was significantly higher than that of the non-carries,whereas in the spermorrhea group BMD in those carrying the same genotype was significantly lower than that in the non-carriers.Similar results were obtained by haplotype analysis.Multiple stepwise regression analysis showed that body weight,age and the first spermorrehea were the dominant determinants for BMD.BMD at forearm might be influenced by interaction between ER genotype and the first spermorrehea.Conclusion The polymorphisms of ER gene play a different role in BMD influenced by the first spermorrhea.Chinese boys carrying Porx allele should pay more attention to their bone mass.

  11. A SNP in pri-miR-10a is associated with recurrent spontaneous abortion in a Han-Chinese population.

    Science.gov (United States)

    Li, Ying; Wang, Xue-Qin; Zhang, Lu; Lv, Xiao-Dan; Su, Xing; Tian, Shi; Liu, Chun-Mei; Ma, Xu; Xia, Hong-Fei

    2016-02-16

    MicroRNA-10a (miR-10a) has a wide range of functions in nearly all mammalian tissues and is involved in the occurrence of many diseases. However, it remains unknown whether miR-10a is associated with human recurrent spontaneous abortion (RSA). In this study, we found that rs3809783 A > T in miR-10a coding region was significantly associated with the increase of the risk of human unexplained RSA (URSA) acquisition in a Han-Chinese population. The T allele of rs3809783 hindered the production of mature miR-10a. A to T substitution in miR-10a rs3809783 repressed cell proliferation and migratory capacity. Further investigation discovered that Bcl-2-interacting mediator (Bim) was the functional target of miR-10a and inversely regulated Bim expression. Dual-luciferase assay indicated that A allele in miR-10a rs3809783 could more effectively suppress Bim expression than T allele. In addition, A to T substitution in miR-10a rs3809783 attenuated the sensibility of cells to progesterone and its antagonist mifepristone. Collectively, our data suggest that rs3809783 A > T in pri-miR-10a may be conductive to the genetic predisposition to RSA by disrupting the production of mature miR-10a and reinforcing the expression of Bim. PMID:26824181

  12. Common variants on 17q25 and gene-gene interactions conferring risk of schizophrenia in Han Chinese population and regulating gene expressions in human brain.

    Science.gov (United States)

    Guan, L; Wang, Q; Wang, L; Wu, B; Chen, Y; Liu, F; Ye, F; Zhang, T; Li, K; Yan, B; Lu, C; Su, L; Jin, G; Wang, H; Tian, H; Wang, L; Chen, Z; Wang, Y; Chen, J; Yuan, Y; Cong, W; Zheng, J; Wang, J; Xu, X; Liu, H; Xiao, W; Han, C; Zhang, Y; Jia, F; Qiao, X; Zhang, D; Zhang, M; Ma, H

    2016-09-01

    Recently, two genome-wide association studies (GWASs) of schizophrenia (SCZ) in Han Chinese identified several susceptibility loci. Replication efforts aiming to validate the GWAS findings were made and focused on the top hits. We conducted a more extensive follow-up study in an independent sample of 1471 cases and 1528 matched controls to verify 26 genetic variants by including nine top single-nucleotide polymorphisms (SNPs) that reached genome-wide significance and 17 promising SNPs nominated in the initial discovery phase. rs8073471 in an intron of tubulin-folding cofactor D (TBCD) obtained nominal significance (Phuman central nervous system. We observed that rs3744165 × rs8073471 interaction modulated the expression profile of TEAD3 (P=1.87 × 10(-8)), SH3TC2 (P=2.00 × 10(-8)), KCNK9 (P=5.20 × 10(-7)) and PPDPF (P=1.13 × 10(-6)) in postmortem cortex tissue; EFNA1 (P=7.26 × 10(-9)), RNU4ATAC (P=2.32 × 10(-8)) and NUPL2 (P=6.79 × 10(-8)) in cerebellum tissue. To the best of our knowledge, our study is the first one that links TBCD and ZNF750 mutations to SCZ susceptibility and to the transcript levels in human brain tissues. Further efforts are needed to understand the role of those variants in the pathogenesis of SCZ. PMID:26728569

  13. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1 gene polymorphisms and autism in Chinese Han population: a family-based association study

    Directory of Open Access Journals (Sweden)

    Ruan Yan

    2011-05-01

    Full Text Available Abstract Background Disrupted-in-Schizophrenia 1 (DISC1 gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism. Methods We genotyped seven tag single nucleotide polymorphisms (SNPs in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT and Haploview software. Results We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02. After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values. Conclusions Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.

  14. Genetic Polymorphisms of TGFB1, TGFBR1, SNAI1 and TWIST1 Are Associated with Endometrial Cancer Susceptibility in Chinese Han Women

    Science.gov (United States)

    Yang, Li; Wang, Ya-Jun; Zheng, Li-Yuan; Jia, Yu-Mian; Chen, Yi-Lin; Chen, Lan; Liu, Dong-Ge; Li, Xiang-Hong; Guo, Hong-Yan; Sun, Ying-Li; Tian, Xin-Xia; Fang, Wei-Gang

    2016-01-01

    Endometrial cancer (EC) is a complex disease involving multiple gene-gene and gene–environment interactions. TGF-β signaling plays pivotal roles in EC development. This study aimed to investigate whether the genetic polymorphisms of TGF-β signaling related genes TGFB1, TGFBR1, SNAI1 and TWIST1 contribute to EC susceptibility. Using the TaqMan Genotyping Assay, 19 tagging-SNPs of these four genes were genotyped in 516 EC cases and 707 controls among Chinese Han women. Logistic regression (LR) showed that the genetic variants of TGFB1 rs1800469, TGFBR1 rs6478974 and rs10733710, TWIST1 rs4721745 were associated with decreased EC risk, and these four loci showed a dose-dependent effect (Ptrend pregnancy intervals (˃11 years) and BMI˂24 (aOR = 0.39, 95% CI = 0.17–0.90, P = 0.0275). These results suggest that polymorphisms in TGFB1, TGFBR1, SNAI1 and TWIST1 may modulate EC susceptibility, both separately and corporately. PMID:27171242

  15. The European GWAS-identified risk SNP rs457717 within IQGAP2 is not associated with age-related hearing impairment in Han male Chinese population.

    Science.gov (United States)

    Luo, Huajie; Wu, Hao; Shen, Hailian; Chen, Haifeng; Yang, Tao; Huang, Zhiwu; Jin, Xiaojie; Pang, Xiuhong; Li, Lei; Hu, Xianting; Jiang, Xuemei; Fan, Zhuping; Li, Jiping

    2016-07-01

    This study aimed to test the association between the European GWAS-identified risk IQGAP2 SNP rs457717 (A>G) and age-related hearing impairment (ARHI) in a Han male Chinese (HMC) population. A total of 2420 HMC subjects were divided into two groups [group 70+: >70 years (n = 1306), and group 70-: ≤70 years (n = 1114)]. The participants were categorised into case and control groups according to Z high scores for group 70- and the severity of hearing loss and different audiogram shapes identified by K-means cluster analysis for group 70+. The IQGAP2 tagSNP rs457717 was genotyped in accordance with the different ARHI phenotypes. The genotype distributions of IQGAP2 (AA/AG/GG) were not significantly different between the case and control groups (P = 0.613 for group 70-; P = 0.602 for group 70+). Compared with genotype AA, the ORs of genotypes AG and GG for ARHI were not significantly different following adjustment for other environmental risk factors. We demonstrated that the IQGAP2 TagSNP rs457717 (A/G) was not associated with ARHI in HMC individuals. PMID:26187738

  16. Extensive HLA class Ⅱ studies in Chinese narcoleptic patients.

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective: Narcolepsy is a debilitating, lifelong sleep disorder. Its familial occurrence suggests that genetic factors may be of importance in the etiology. Narcolepsy is a very rare disease among Chinese, thus it was of interest to study the association of narcolepsy with the HLA system in Chinese narcoleptic patients.

  17. Mitochondrial DNA copy number, but not haplogroup, confers a genetic susceptibility to leprosy in Han Chinese from Southwest China.

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    Dong Wang

    Full Text Available BACKGROUND: Leprosy is a chronic infectious disease caused by Mycobacterium leprae, an unculturable pathogen with an exceptionally eroded genome. The high level of inactivation of gene function in M. leprae, including many genes in its metabolic pathways, has led to a dependence on host energy production and nutritional products. We hypothesized that host cellular powerhouse--the mitochondria--may affect host susceptibility to M. leprae and the onset of clinical leprosy, and this may be reflected by mitochondrial DNA (mtDNA background and mtDNA copy number. METHODS: We analyzed the mtDNA sequence variation of 534 leprosy patients and 850 matched controls from Yunnan Province and classified each subject by haplogroup. mtDNA copy number, taken to be proportional to mtDNA content, was measured in a subset of these subjects (296 patients and 231 controls and 12 leprosy patients upon diagnosis. RESULTS: Comparison of matrilineal components of the case and control populations revealed no significant difference. However, measurement of mtDNA copy number showed that lepromatous leprosy patients had a significantly higher mtDNA content than controls (P = 0.008. Past medical treatments had no effect on the alteration of mtDNA copy number. CONCLUSIONS: Our results suggested that mtDNA content, but not haplogroup, affects leprosy and this influence is limited to the clinical subtype of lepromatous leprosy.

  18. Genetic variants in insulin-like growth factor binding protein-3 are associated with prostate cancer susceptibility in Eastern Chinese Han men

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    Zhang G

    2015-12-01

    Full Text Available Guiming Zhang,1–3 Yao Zhu,1,2 Fang Liu,4,5 Chengyuan Gu,1,2 Haitao Chen,4,5 Jianfeng Xu,4–6 Dingwei Ye1,2 1Department of Urology, Fudan University Shanghai Cancer Center, 2Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 3Department of Urology, The Affiliated Hospital of Qingdao University, Shandong, 4Fudan Institute of Urology, Huashan Hospital, Fudan University, 5State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, People’s Republic of China; 6Center for Cancer Genomics, Wake Forest School of Medicine, Winston-Salem, NC, USA Background: Growing evidence has indicated that insulin-like growth factor binding protein-3 (IGFBP-3 polymorphisms are associated with altered risk of prostate cancer (PCa. However, few studies have been conducted in Chinese population to validate this association. Materials and methods: Herein, we examined the association between genetic variants in the IGFBP-3 gene and PCa risk in the Chinese Han population based on a genome-wide association study (1,417 cases and 1,008 controls, and replicated three genetic variants loci in an independent case-control study (1,755 cases and 1,523 controls using Sequenom platform. Logistic regression analyses were performed to estimate odds ratios (ORs and 95% confidence intervals (95% CIs. Results: We found that in the discovery stage, rs9691259 (OR =0.691, 95% CI: 0.587–0.814, P<0.001 and rs6950179 (OR =1.420, 95% CI: 1.201–1.677, P<0.001 were significantly associated with PCa risk, whereas rs2854744 showed a marginal association with PCa risk. In the replication stage, the association between rs9691259 and rs6950179 and PCa risk was not replicated, whereas rs2854744 conferred a significant association with PCa risk (OR =1.399, 95% CI: 1.010–1.937, P=0.043. After combining the two stages, we found that rs9691259, rs6950179, and rs2854744 were all significantly associated with PCa risk. Conclusion

  19. Association of ADAM33 gene polymorphisms with adult allergic asthma and rhinitis in a Chinese Han population

    OpenAIRE

    Jin Lianhong; Lü Fuzhen; Sui Hong; Zhang Ximei; Su Dongju; Zhang Jing

    2008-01-01

    Abstract Background Rhinitis and asthma are very common diseases involving genetic and environmental factors. Most patients with asthma also have rhinitis, which suggests the concept of 'one airway, one disease.' A disintegrin and metalloproteinase 33 (ADAM33) is the first asthma-susceptible gene to be discovered by positional cloning. To evaluate the potential influence of ADAM33 gene polymorphisms on allergic rhinitis (AR) and allergic asthma (AS), a case-control study was conducted on the ...

  20. Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China

    OpenAIRE

    Xin, Feng; Yuan, Yongyi; Deng, Xiaoming; Han, Mingyu; Wang, Guojian; Zhao, Jiandong; Gao, Xue; Liu, Jun; Yu, Fei; Han, Dongyi; Dai, Pu

    2013-01-01

    Background Each year in China, 30,000 babies are born with congenital hearing impairment. However, the molecular etiology of hearing impairment in the Yunnan Province population where more than 52 minorities live has not been thoroughly investigated. To provide appropriate genetic testing and counseling to these families, we investigated the molecular etiology of nonsyndromic deafness in this population. Methods Unrelated students with hearing loss (n = 235) who attended Kunming Huaxia second...

  1. Polymorphism of the catechol-O-methyltransferase gene in Han Chinese patients with psoriasis vulgaris

    OpenAIRE

    Lin Gao; Hong Li; Kai Li; Zhu Shen; Ling Liu; Chunying Li; Zhengdong Zhang; Yufeng Liu

    2009-01-01

    Psoriasis vulgaris is defined by a series of linked cellular changes in the skin: hyperplasia of epidermal keratinocytes, vascular hyperplasia and ectasia, and infiltration of T lymphocytes, neutrophils and other types of leukocytes in the affected skin. Catechol-O-methyltransferase ( COMT ) 158 polymorphism can reduce the activity of the COMT enzyme that may trigger defective differentiation of keratinocytes in psoriasis. Immunocytes can degrade and inactivate catecholamines via monamine oxi...

  2. Polymorphism of the catechol-O-methyltransferase gene in Han Chinese patients with psoriasis vulgaris

    OpenAIRE

    Gao, Lin; Li, Hong; Li, Kai; Shen, Zhu; Liu, Ling; Li, Chunying; Zhang, Zhengdong; Liu, Yufeng

    2009-01-01

    Psoriasis vulgaris is defined by a series of linked cellular changes in the skin: hyperplasia of epidermal keratinocytes, vascular hyperplasia and ectasia, and infiltration of T lymphocytes, neutrophils and other types of leukocytes in the affected skin. Catechol-O-methyltransferase (COMT) 158 polymorphism can reduce the activity of the COMT enzyme that may trigger defective differentiation of keratinocytes in psoriasis. Immunocytes can degrade and inactivate catecholamines via monamine oxida...

  3. Association Between Promoter Polymorphisms of the GRP78 Gene and Risk of Type 2 Diabetes in a Chinese Han Population

    OpenAIRE

    LIU, Shengyuan; Li, Keshen; Li, Tao; Xiong, Xingdong; Yao, Songpo; Chen, Zhongwei; Wang, Changyi; Zhao, Bin

    2013-01-01

    There are large amounts of unfolding or misfolding protein accumulation in the endoplasmic reticulum in patients with type 2 diabetes (T2D), which in turn induces the expression of the glucose-regulated protein 78 (GRP78) that plays a key role in influencing insulin secretion and maintaining glucose homeostasis in pancreatic beta cells. The aim in the study is to analyze the potential association between single-nucleotide polymorphisms (SNPs) of GRP78 and the risk of T2D. To assess the associ...

  4. A comparative study on the levels of serum cytokines and cortisol among post-traumatic stress disorder patients of Li and Han ethnicities in Hainan

    Institute of Scientific and Technical Information of China (English)

    Chen Tao; Guo Min; Gao Yunsuo; Chen Feng; Guo Juncheng; Liu Tao; Wu Duoyu

    2014-01-01

    Background Post-traumatic stress disorder (PTSD) is a mental disorder with delayed or chronic onset caused by unusual,threatening,or disastrous psychological trauma,and it is an important manifestation of post-disaster mental and behavioral disorders.Studies have shown that IL-6 is a cytokine associated with PTSD occurrence.This study aimed to explore the role of cytokine and ethnicity in the pathogenesis of PTSD by examining levels of serum cytokines IL-2,IL-6,IL-8,TNF-α,and cortisol in PTSD patients of Li and Han ethnic groups.Methods Levels of serum cytokines IL-2,IL-6,IL-8,TNF-α,and cortisol were examined by enzyme-linked immunoabsorbent assay (ELISA) method and assessed by PCL-C scale among 30 PTSD patients of Han ethnicity and 30 of Li ethnicity,and compared with 30 normal controls of Han and Li ethnicity,respectively.Results PTSD patients of Li ethnicity scored higher than PTSD patients of Han ethnicity,and normal controls of Li and Han ethnic groups in each of the re-experiencing,avoidance/numbing,and hyperarousal symptoms.The differences reached statistical significance (P <0.05).In PTSD patients of Li ethnicity compared to patients of Han ethnicity and normal controls of either Li or Han ethnicity,the levels of IL-2,IL-6,IL-8,and TNF-α were higher,and the level of cortisol was lower.Conclusions There are ethnic differences in re-experiencing,avoidance/numbing,and hyperarousal symptoms among PTSD patients.The levels of serum cortisol and cytokines are strongly associated with the race.

  5. Association of Apo-E gene polymorphism with biochemical and lipid metabolism parameters in patients with diabetic nephropathy of Hui and Han populations in Gansu Province

    Institute of Scientific and Technical Information of China (English)

    郭茜

    2006-01-01

    Objective To study the association of apolipoprotein (Apo) E gene polymorphism with difference in biochemical metabolism of diabetic nephropathy of Hui and Han populations. Methods ApoE genotype was determined by PCR-RFLP in diabetic patients with or without diabetic nephropathy (DN) and normal peoples in Hui and Han peoples, the related biochemical parameters were simultaneously detected. Results (1) Huis had 3 genotypes, i. e. E2/E3, E3/E3 and E3/E4, and their fre-

  6. Relationship between the gene polymorphisms of kallikrein-kinin system and Alzheimer's disease in a Hunan Han Chinese population.

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    Deng, Yanyao; Hou, Deren; Tian, Mi; Li, Wei; Feng, Xialu; Yu, Zhuling

    2015-01-01

    This study aimed to determine the connection between polymorphisms of kallikrein kinin system including KLK1 (rs5516), KNG1 (rs710446, rs2304456) and ACE (rs4291, rs4309, rs4343) and late-onset Alzheimer's disease (LOAD). The research was conducted as a case-control study, comprising 201 AD patients in the AD group, and 257 healthy subjects as the control group. PCR amplification and matrix-assisted laser desorption-ionization time-of-flight mass spectrometry (MALDI-TOF MS) were used to detect the six polymorphisms (rs5516 in KLK1; rs710446, rs2304456 in KNG1; rs4291, rs4309, rs4343 in ACE) from both groups. No statistically significant difference was found between the genotype and allelotype distributions of rs5516, rs710446, rs2304456, rs4291 and rs4343 (P>0.05). The differences between the genotype and allelotype distributions of the rs4309 were statistically significant (PTCG, TTA, TTG) composed of rs4291/rs4309/rs4343, among which the distribution of ATA, ACA, TCA between the two groups was statistically significant difference (P<0.05). Our study showed that the polymorphisms of rs5516, rs710446, rs2304456, rs4291 and rs4343 is not related to the incidence of LOAD. The polymorphisms of rs4309 may be related to LOAD, as well as ATA, ACA, and TCA haplotype composed of rs4291/rs4309/rs4343. PMID:26884824

  7. Association of mitochondrial DNA variations with lung cancer risk in a Han Chinese population from southwestern China.

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    Shizhen Zheng

    Full Text Available Mitochondrial DNA (mtDNA is particularly susceptible to oxidative damage and mutation due to the high rate of reactive oxygen species (ROS production and limited DNA-repair capacity in mitochondrial. Previous studies demonstrated that the increased mtDNA copy number for compensation for damage, which was associated with cigarette smoking, has been found to be associated with lung cancer risk among heavy smokers. Given that the common and "non-pathological" mtDNA variations determine differences in oxidative phosphorylation performance and ROS production, an important determinant of lung cancer risk, we hypothesize that the mtDNA variations may play roles in lung cancer risk. To test this hypothesis, we conducted a case-control study to compare the frequencies of mtDNA haplogroups and an 822 bp mtDNA deletion between 422 lung cancer patients and 504 controls. Multivariate logistic regression analysis revealed that haplogroups D and F were related to individual lung cancer resistance (OR = 0.465, 95%CI = 0.329-0.656, p<0.001; and OR = 0.622, 95%CI = 0.425-0.909, p = 0.014, respectively, while haplogroups G and M7 might be risk factors for lung cancer (OR = 3.924, 95%CI = 1.757-6.689, p<0.001; and OR = 2.037, 95%CI = 1.253-3.312, p = 0.004, respectively. Additionally, multivariate logistic regression analysis revealed that cigarette smoking was a risk factor for the 822 bp mtDNA deletion. Furthermore, the increased frequencies of the mtDNA deletion in male cigarette smoking subjects of combined cases and controls with haplogroup D indicated that the haplogroup D might be susceptible to DNA damage from external ROS caused by heavy cigarette smoking.

  8. Association studies of genomic variants with treatment response to risperidone, clozapine, quetiapine and chlorpromazine in the Chinese Han population.

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    Xu, Q; Wu, X; Li, M; Huang, H; Minica, C; Yi, Z; Wang, G; Shen, L; Xing, Q; Shi, Y; He, L; Qin, S

    2016-08-01

    Schizophrenia is a widespread mental disease with a prevalence of about 1% in the world population. Continuous long-term treatment is required to maintain social functioning and prevent symptom relapse of schizophrenia patients. However, there are considerable individual differences in response to the antipsychotic drugs. There is a pressing need to identify more drug-response-related markers. But most pharmacogenomics of schizophrenia have typically focused on a few candidate genes in small sample size. In this study, 995 subjects were selected for discovering the drug-response-related markers. A total of 77 single-nucleotide polymorphisms of 25 genes have been investigated for four commonly used antipsychotic drugs in China: risperidone, clozapine, quetiapine, and chlorpromazine. Significant associations with treatment response for several genes, such as CYP2D6, CYP2C19, COMT, ABCB1, DRD3 and HTR2C have been verified in our study. Also, we found several new candidate genes (TNIK, RELN, NOTCH4 and SLC6A2) and combinations (haplotype rs1544325-rs5993883-rs6269-rs4818 in COMT) that are associated with treatment response to the four drugs. Also, multivariate interactions analysis demonstrated the combination of rs6269 in COMT and rs3813929 in HTR2C may work as a predictor to improve the clinical antipsychotic response. So our study is of great significance to improve current knowledge on the pharmacogenomics of schizophrenia, thus promoting the implementation of personalized medicine in schizophrenia.The Pharmacogenomics Journal advance online publication, 18 August 2015; doi:10.1038/tpj.2015.61. PMID:26282453

  9. The effects of SP110's associated genes on fresh cavitary pulmonary tuberculosis in Han Chinese population.

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    Jiang, Shi-Yao; Li, Lin-Lin; Yue, Jun; Chen, Wen-Zhong; Yang, Chao; Wan, Chun-Ling; He, Lin; Cai, Lei; Deng, Shao-Li

    2016-05-01

    SP110 is a promising anti-Mycobacterium tuberculosis (MTB) gene. To investigate the effects of SP110 and its associated genes, i.e., MYBBP1A and RELA, on pathological progression of MTB infection, an association study with 424 patients of fresh pulmonary tuberculosis (PTB) and 424 healthy controls was performed. Moreover, classification and regression tree and multifactor dimensionality reduction were employed to explore the effects of gene-gene interactions on cavitary PTB. The results indicated that both the heterozygous genotype GC and homozygous genotype CC in rs3809849 had significant effects on the risk of PTB (OR 1.42, 95 % CI 1.06-1.92, p 0.019; OR 1.55, 95 % CI 1.04-2.33, p = 0.033, respectively), and heterozygous genotype CT in rs9061 also had similar effects (OR 1.43, 95 % CI 1.07-1.90, p = 0.014). The rs3809849 and rs9905742 in MYBBP1A were also significantly associated with cavitary PTB (p = 0.00046 and 0.039, respectively), while rs9061 in SP110 had no such association (p = 0.06931) except its significant association with non-cavitary PTB (p = 0.0093). The interaction of MYBBP1A and RELA had significant effect on cavitary PTB (OR 4.24, 95 % CI 1.44-12.49, p = 0.005). These suggest that MYBBP1A instead of SP110 may be a genetic risk factor for cavitary PTB and play important effects on its whole progress. PMID:25612917

  10. A pharmacogenetics-based warfarin maintenance dosing algorithm from Northern Chinese patients.

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    Jinxing Chen

    Full Text Available Inconsistent associations with warfarin dose were observed in genetic variants except VKORC1 haplotype and CYP2C9*3 in Chinese people, and few studies on warfarin dose algorithm was performed in a large Chinese Han population lived in Northern China. Of 787 consenting patients with heart-valve replacements who were receiving long-term warfarin maintenance therapy, 20 related Single nucleotide polymorphisms were genotyped. Only VKORC1 and CYP2C9 SNPs were observed to be significantly associated with warfarin dose. In the derivation cohort (n = 551, warfarin dose variability was influenced, in decreasing order, by VKORC1 rs7294 (27.3%, CYP2C9*3(7.0%, body surface area(4.2%, age(2.7%, target INR(1.4%, CYP4F2 rs2108622 (0.7%, amiodarone use(0.6%, diabetes mellitus(0.6%, and digoxin use(0.5%, which account for 45.1% of the warfarin dose variability. In the validation cohort (n = 236, the actual maintenance dose was significantly correlated with predicted dose (r = 0.609, P<0.001. Our algorithm could improve the personalized management of warfarin use in Northern Chinese patients.

  11. ANALYSIS OF INTERLEUKIN-1 RECEPTOR ANTAGONIST GENE POLYMORPHISM IN CHINESE PATIENTS WITH ALZHEIMER'S DISEASE

    Institute of Scientific and Technical Information of China (English)

    Sheng Bi; De-sheng Wang; Guo-lin Li; Shang-ha Pan

    2004-01-01

    Objective To identify an interaction between the interleukin-1 receptor antagonist gene polymorphism and risk of Alzheimer's disease.Methods The study included 117 healthy controls, 85 patients with Alzheimer's disease in a Northeastern Chinese population of Han nationality. Genotypes were determined by a polymerase chain reaction amplification of the intron 2 fragment,harbouring a variable number of short tandem nucleotide sequences. Amplification products were separated on a 2% agarose gel.Results The allele 2 frequency was 27% in healthy controls, and 21% in patients with Alzheimer's disease. Thus for allele 2 as well as for all other alleles, genotypes, or carriage rates, no significant differences compared with controls.Conclusions No association ofinterleukin-1 receptor antagonist gene polymorphism with Alzheimer's disease was identified in this population. It is also possible that the increased risk and disease modifying effects are caused by linkage disequilibrium with other genomic variants in other nearby genes.

  12. Thyroglobulin gene mutations in Chinese patients with congenital hypothyroidism.

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    Hu, Xuyun; Chen, Rongyu; Fu, Chunyun; Fan, Xin; Wang, Jin; Qian, Jiale; Yi, Shang; Li, Chuan; Luo, Jingsi; Su, Jiasun; Zhang, Shujie; Xie, Bobo; Zheng, Haiyang; Lai, Yunli; Chen, Yun; Li, Hongdou; Gu, Xuefan; Chen, Shaoke; Shen, Yiping

    2016-03-01

    Mutations in Thyroglobulin (TG) are common genetic causes of congenital hypothyroidism (CH). But the TG mutation spectrum and its frequency in Chinese CH patients have not been investigated. Here we conducted a genetic screening of TG gene in a cohort of 382 Chinese CH patients. We identified 22 rare non-polymorphic variants including six truncating variants and 16 missense variants of unknown significance (VUS). Seven patients carried homozygous pathogenic variants, and three patients carried homozygous or compound heterozygous VUS. 48 out of 382 patients carried one of 18 heterozygous VUS which is significantly more often than their occurrences in control cohort (P G variant is the most common pathogenic variant with an allele frequency of 0.021. The prevalence of CH due to TG gene defect in Chinese population was estimated to be approximately 1/101,000. Our study uncovered ethnicity specific TG mutation spectrum and frequency. PMID:26777470

  13. Novel mutations of PRSS1 gene in patients with pancreatic cancer among Han population

    Institute of Scientific and Technical Information of China (English)

    ZENG Kai; LIU Qi-cai; LIN Jian-hua; LIN Xin-hua; ZHUANG Ze-hao; GAO Feng; OU Qi-shui

    2011-01-01

    Background A high mortality rate of pancreatic cancer becomes a bottleneck for further treatment with long-term efficacy. It is urgent to find a new mean to predict the early onset of pancreatic cancer accurately. The authors hypothesized that genetic variants of cationic trypsinogen (PRSS1) gene could affect trypsin expression/function and result in abnormal activation of protease activated receptor-2 (PAR-2), then lead to pancreatic cancer. The aim of this study was to elaborate some novel mutations of PRSS1 gene in the patients with pancreatic cancer.Methods Totally 156 patients with pancreatic cancer and 220 unrelated individuals as controls were enrolled in this study. The mutations of PRSS1 gene were analyzed by direct sequencing. K-ras Mutation Detection Kit was used to find the general k-ras gene disorder in the pancreatic cancer tissue. Then the clinical data were collected and analyzed simultaneously.Results There were two patients who carried novel mutations which was IVS 3 +157 G>C of PRSS1 gene in peripheral blood specimens and pancreatic cancer tissue. What's more, it was surprising to find a novel complicated mutation of exon 3 in PRSS1 gene (c.409 A>G and c.416 C>T) in another young patient. The complicated mutation made No. 135 and No.137 amino acid transfer from Thr to Ala and Thr to Met respectively. No any mutation was found in the normal controls while no mutations of k-ras gene were detected in the three patients.Conclusion Mutations of PRSS1 gene may be an important factor of pancreatic cancer.

  14. 中国汉族女性血清脂联素水平与乳腺癌关系的Meta分析%Meta-analysis: serum adiponectin level and breast cancer risk in Chinese Han women

    Institute of Scientific and Technical Information of China (English)

    叶菁菁; 贾珏; 董嗣婧; 张彩丽; 陈军建; 袁国跃

    2013-01-01

    目的:综合评价中国汉族女性血清脂联素水平与乳腺癌的关系.方法:收集1995年1月至2012年11月国内公开发表的有关文献进行评述,提取信息,并进行Meta分析.结果:最终有8篇文献纳入本研究,乳腺癌组481例,正常对照组346例.对纳入研究数据进行Meta分析,结果显示:①与健康对照组相比,乳腺癌血清脂联素水平显著降低[P<0.01,加权均数差(WMD)=-2.412,95%CI为-3.173~-1.651].绝经前乳腺癌患者血清脂联素水平显著低于绝经前健康女性(P<0.01,WMD=-1.884,95% CI为-2.770 ~-0.998).②与淋巴结未转移组相比,乳腺癌淋巴结转移组血清脂联素水平也显著降低(P =0.002,WMD=-1.981,95% CI为-3.238 ~-0.724).结论:中国汉族女性低脂联素血症可能是乳腺癌发病危险因素,且与乳腺癌预后不良相关.%Objective:To evaluate the association of serum adiponectin concentration with breast cancer risk in Chinese Han women.Methods:Related papers about the association of serum adiponectin concentration with breast cancer risk in Chinese Han women published between 1995 and 2012 were retrieved and evaluated.Data were re-analyzed by Meta analysis.Results:A total of eight studies that meet the inclusion/exclusion criteria were included.Data from 481 cases of breast cancer and 346 healthy control subjects were analyzed.The results showed,① Patients with breast cancer had lower serum adiponectin values than healthy controls(P < 0.05,WMD =-2.412,95% CI-3.173 to-1.651).Among premenopausal women,patients with breast cancer also had lower serum adiponectin values than healthy controls (P < 0.05,WMD =-1.884,95% CI-2.770 to-0.998).② Compared with patients without lymph node metastasis,patients with lymph node metastasis had significantly lower serum adiponectin levels (P =0.002,WMD =-1.981,95 % CI-3.238 to-0.724).Conclusion:Lower adiponectin concentration could be a risk factor of breast cancer and a predictor of poor

  15. Postoperative comparison of result of renal transplantation between ethnic minorities and Han recipients after receiving kidneys from Han donors

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    Han-wen CUI

    2013-04-01

    Full Text Available Objective  To analyze the outcomes and postoperative complications of renal transplant recipients of ethnic minorities and Han population in China, and investigate the differences between them. Methods  Clinical data from 89 minorit y patients and 100 Han patients who had received renal transplant of Hans' donators in Organ Transplantation Center of PLA from 1990 to 2012 were retrospectively analyzed. The general data before transplantation, and rate of short-term survival of the graft, incidence of delayed graft function (DGF, acute rejection, and pulmonary infection after transplantation were analyzed and compared. Results  No statistical difference was found in the preoperative personal profile between the recipients of minorities and Han nationality. In the recipients of minorities and Han nationality, the 1-year graft survival rate was 89.9% and 92%, the respective incidence of DGF was 28.1% and 27.0%, and the respective incidence of acute rejection was 22.5% and 19.0%, and there was no significant difference between them (P>0.05. The incidence of pulmonary infection was higher in minority recipients (30.3% than in Han recipients (10.0%, P0.05. Conclusion  The short-term clinical outcome of renal transplant recipients seems to be similar in different Chinese ethnic groups, but the incidence of pulmonary infection is higher in minority recipients, so it is important to strengthen monitoring in early postoperative period.

  16. 汉族孤独症谱系障碍儿童脆性X基因突变研究%Mutation study of fragile X mental retardation 1 in Chinese Han autism spectrum disorder children

    Institute of Scientific and Technical Information of China (English)

    刘贤; 陈彦平; 周雪; 王雪莱; 孙蒙; 梁爽; 武丽杰

    2011-01-01

    expanded range of allele sizes were detected by gel visualization and STR fluorescence technology. [ Results] 464 (99.57 % )PCR products of ASD children were amplified successfully. Those PCR implications which fragment size was less than 500 bp, were further verified by STR fluorescence technologies. At the same time, the DNA samples of two autism patients(0. 43%) were not amplified successfully by PCR, excluding the possibility of DNA quality and operational problems, and deduced them as abnormal mutation of fragile X mental retardation 1(FMR-1). [Conclusions] Using optimized PCR system and STR fluorescence technology can significantly provide the CGG repeat numbers of alleles. The incidence of the mutation of FMR-1 gene in the Chinese Han ASD children is 0. 43 %.

  17. Distinct role of the Fas rs1800682 and FasL rs763110 polymorphisms in determining the risk of breast cancer among Han Chinese women

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    Wang M

    2016-07-01

    Full Text Available Meng Wang,1,* Zheng Wang,2,* Xi-Jing Wang,1 Tian-Bo Jin,3 Zhi-Ming Dai,4 Hua-Feng Kang,1 Hai-Tao Guan,1 Xiao-Bin Ma,1 Xing-Han Liu,1 Zhi-Jun Dai1 1Department of Oncology, Second Affiliated Hospital of Xi’an Jiaotong University, 2Department of Medical Oncology, Xi’an Central Hospital, 3National Engineering Research Center for Miniaturized Detection Systems, School of Life Sciences, Northwest University, 4Department of Anesthesia, Second Affiliated Hospital of Xi’an Jiaotong University, Xi’an, People’s Republic of China *These authors contributed equally to this work Background: In recent years, studies have demonstrated that polymorphisms in the promoters of Fas and FasL are significantly associated with breast cancer risk. However, the results of these studies were inconsistent. This case–control study was performed to explore the associations between Fas rs1800682 and FasL rs763110 polymorphisms and breast cancer. Materials and methods: A hospital-based case–control study of 560 Han Chinese females with breast cancer (583 controls was conducted. The MassARRAY system was used to search for a possible association between the disease risk and the two single nucleotide polymorphisms, Fas rs1800682 and FasL rs763110. Statistical analyses were performed using SNPStats software to conduct Pearson’s chi-square tests in five different genetic models. Odds ratios (ORs and 95% confidence intervals (CIs were calculated after adjustment to age and body mass index. PHASE v2.1 software was used to reconstruct all common haplotypes.Results: A statistically significant association was found between Fas rs1800682 and increased breast cancer risk (AG vs AA: OR =1.37, 95% CI =1.06–1.78; AA+AG vs GG: OR =1.32, 95% CI =1.04–1.66, and also it was found that the FasL rs763110 polymorphism may decrease the risk. Stratified analyses demonstrated that the rs763110 polymorphism was associated with lower breast cancer risk among postmenopausal females

  18. A Pooling Genome-Wide Association Study Combining a Pathway Analysis for Typical Sporadic Parkinson's Disease in the Han Population of Chinese Mainland.

    Science.gov (United States)

    Hu, Yakun; Deng, Libing; Zhang, Jie; Fang, Xin; Mei, Puming; Cao, Xuebing; Lin, Jiari; Wei, Yi; Zhang, Xiong; Xu, Renshi

    2016-09-01

    Genome-wide association studies (GWAS) on sporadic Parkinson's disease (sPD) are mainly conducted in European and American populations at present, and the Han populations of Chinese mainland (HPCM) almost have not been studied yet. Here, we conducted a pooling GWAS combining a pathway analysis with 862,198 autosomal single nucleotide polymorphisms of IlluminaHumanOmniZhongHua-8 in 250 sPD and 250 controls from HPCM precluded toxicant exposure, age, and heavy coffee drinking habit interference. We revealed that among the 22 potential loci implicated, PRDM2/KIAA1026 (kgp8090149), TSG1/MANEA (kgp154172), PDE10A (kgp8130520), MDGA2 (rs9323124), ATPBD4/LOC100288892 (kgp11333367), ZFP64/TSHZ2 (kgp4156164), PAQR3/ARD1B (kgp9482779), FLJ23172/FNDC3B (kgp760898), C18orf1 (kgp348599), FLJ43860/NCRNA00051 (kgp4105983), CYP1B1/C2orf58 (kgp11353523), WNT9A/LOC728728 (rs849898), ANXA1/LOC100130911 (rs10746953), FLJ35379/LOC100132423 (kgp9550589), PLEKHN1 (kgp7172368), DMRT2/SMARCA2 (kgp10769919), ZNF396/INO80C (rs1362858), C3orf67/LOC339902 (rs6783485), LOC285194/IGSF11 (rs1879553), FGF10/MRPS30 (rs13153459), BARX1/PTPDC1 (kgp6542803), and COL5 A2 (rs11186), the peak significance was at the kgp4105983 of FLJ43860 gene in chromosome 8, the first top strongest associated locus with sPD was PRDM2 (kgp8090149) in chromosome 1, and the 24 pathways including 100 significantly associated genes were strongly associated with sPD from HPCM. The 40 genes were shared by at least two pathways. The most possible associated pathways with sPD were axon guidance, ECM-receptor interaction, neuroactive ligand-receptor interaction, tight junction, focal adhesion, gap junction, long-term depression, drug metabolism-cytochrome P450, adherens junction, endocytosis, and protein digestion and absorption. Our results indicated that these loci, pathways, and their related genes might be involved in the pathogenesis of sPD from HPCM and provided some novel evidences for further searching the genetic

  19. Measurement of the volume of internal capsule in healthy Chinese adults of the Han nationality on the high-resolution MRI

    International Nuclear Information System (INIS)

    Objective: To explore the normal range of the volume of internal capsules in Chinese adults of the Han nationality and its relationship with age, body habitus, and craniocerebral volume. Methods: One thousand healthy volunteers (age range =18 to 80 years) were divided into 5 groups according to their age; Group A (18 to 30 years old), group B (31 to 40 years), group C (41 to 50 years), group D (51 to 60 years), and group E (61 to 80 years). Each group consisted of 100 males and 100 females. MR imaging was performed in all of the volunteers using T1 weighted three-dimensional magnetization prepared rapid acquisition gradient echo sequence. After three dimension data reconstruction, the volumes of bilateral internal capsules were manually measured. The volumes of bilateral internal capsules were compared by paired sample t test. The internal capsule volumes were compared between male and female by independent sample t test, and the differences among 5 age groups were compared by one-way ANOVA. The relationship between the volumes of internal capsule and age, body habitus or cerebral volume were analyzed using bivariate correlation. Results: The left and right internal capsule volumes were (2809 ± 393) and (2677 ± 343 ) mm3 respectively. The left internal capsule volumes were significantly larger than that of right (t=12.078, P<0.05). The left and right side of internal capsule volumes in male were (2863 ± 396) and (2744 ±358) mm3 respectively, and (2754 ±385) and (2609 ±314) mm3 in female. The left and right internal capsule volumes were larger in males than in female (t=1.982, 2.851; P<0.05). The left internal capsule volume of the 5 age groups were (3273 ± 361), (2943 ± 299), (2777 ± 255), (2607 ± 199), (2444 ±213) mm3, and the right were (2993 ± 361), (2814 ± 270), (2682 ± 239), (2543 ± 219), (2351 ±210) mm3. There were significant differences among 5 age groups between left and right internal capsule volume (F=55.244, 34.493; P<0.05). There was

  20. Brain Embolism Secondary to Cardiac Myxoma in Fifteen Chinese Patients

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    Youming Long

    2014-01-01

    Full Text Available Background. Heart myxoma-related embolisms commonly involve the central nervous system, but data are lacking in Chinese patients. Methods. 27 patients diagnosed with myxoma were reviewed retrospectively. Results. Among 27 patients, fourteen (51.9% patients were women. Fifteen (55.6% patients had brain embolisms. Rarely, patients were misdiagnosed with central nervous system vasculitis (n = 2, moyamoya disease (n = 1, and neuromyelitis optica (n = 1. We found positive associations between mRS (>3 and female gender (r = 0.873, P10 × 109/L (r = 0.722, P = 0.002, tumour size (r = 0.866, P0.05. Conclusions. Neurologic manifestations in Chinese patients with cardiac myxoma-related stroke were complicated and multifarious. Female gender, infection, other severe complications, low SBP, tumour size, bilateral brain lesions, TACI, and high WBC counts could be associated with a poor prognosis.

  1. Evidence for association of D1S249 locus on human chromosome 1 with the susceptibility to essential hypertension in Han Chinese

    Institute of Scientific and Technical Information of China (English)

    ZHENG; Yong; (

    2001-01-01

    [1]Jeunemaitre, X., Soubrier, F., Kotelevtsev, Y. V. et al., Molecular basis of hypertension: role of angiotensinogen, Cell, 1993, 71: 169.[2]Hingorani, A. D., Sharma, P., Jia, H. et al., Blood pressure and M235T polymorphism of the angiotensinogen gene, Hypertension, 1996, 28: 907.[3]Liu, Y., Zhou, W. Y., Qiu, C. C. et al., Association analysis of polymorphisms of ACE gene and AGT gene with essential hypertension in Chinese Han's population, Chin. Med. Sci. J., 1998, 13(2): 71.[4]Davies, E., Bonnar, D. A., Lathrop, G. M. et al., Human angiotensin II type I receptor locus, CA repeat polymorphism and genetic mapping, Hum. Mol. Genet., 1994, 3: 838.[5]Kainulainen, K., Perola, M., Terwilliger, J. et al., Evidence for involvement of the type I angiotensin II receptor locus in essential hypertension, Hypertension, 1999, 33: 844.[6]Wang, W. Y. S., Zee, R. Y. L., Morris, B. J. et al., Association of angiotensin II type I receptor gene polymorphism with essential hypertension, Clin. Genet., 1997, 51: 31.[7]Mastana, S., Nunn, J., Angiotensin-converting enzyme deletion polymorphism is associated with hypertension in a sikh population, Human Hered., 1997, 47: 250.[8]Poirier, O., Georges, J. L., Ricard, S. et al., New polymorphisms of the angiotensin II type I receptor gene and their associations with myocardial infarction and blood pressure: the ECTIM study, J. of Hypertension, 1998, 16: 1443.[9]Liu, Y., Qiu, C. C., Zhou, W. Y. et al., Gene polymorphisms of the renin-angiotensin system in essential hypertension, Chinese Medical Journal, 1999, 112(2): 115.[10] Todd, J. A., Genetic analysis of type I diabetes using whole genome approaches, Proc. Natl. Acad. Sci. USA, 1995, 92: 8560.[11] Hanis, C. L., Boerwinkle, E., Chakraborty, R. et al., A genome-wide search for human non-insulin-dependent (type II) diabetes genes reveals a major susceptibility locus on chromosome 2, Nature Genetics, 1996, 13: 161.[12] Hager, J., Dina, C

  2. The genetic variants at the HLA-DRB1 gene are associated with primary IgA nephropathy in Han Chinese

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    Jiyun Yang

    2012-05-01

    Full Text Available Abstract Background Immunoglobulin A nephropathy (IgAN, an immune-complex-mediated glomerulonephritis defined immunohistologically by the presence of glomerular IgA deposits, is the most common primary glomerular disease worldwide and a significant cause of end-stage renal disease. Familial clustering of patients with IgAN suggests a genetic predisposition. Methods In this study, 192 patients with IgAN and 192 normal controls in the Sichuan cohort and 935 patients with IgAN and 2,103 normal controls in the Beijing cohort were investigated. HLA-DRB1*01–DRB1*10 specificities were genotyped by the PCR–SSP technique in both cohorts. Based on the HLA-DRB1*04-positive results, the subtypes of HLA-DRB1*04 were analyzed using sequencing-based typing (SBT in 291 IgAN cases and 420 matched controls. Results The frequency of HLA-DRB1*04 in the IgAN group was significantly higher than that in the control group (0.129 vs. 0.092, P = 8.29 × 10-5, odds ratio (OR =1.381, 95% confidence interval (CI 1.178–1.619. Other alleles at the HLA-DRB1 locus were observed with no significant differences between the case and control groups. The dominant alleles of the HLA-DRB1*04 subtypes were DRB1*0405 in both cohorts. The frequencies of HLA-DRB1*0405 and 0403 were significantly increased in the patients compared to healthy subjects. Conclusion HLA-DRB1*04 was significantly associated with primary IgAN in Chinese population. This result implies that HLA-DRB1 gene plays a major role in primary IgAN.

  3. Mitochondrial DNA sequence variation and haplogroup distribution in Chinese patients with LHON and m.14484T>C.

    Directory of Open Access Journals (Sweden)

    Dandan Yu

    Full Text Available BACKGROUND: Leber hereditary optic neuropathy (LHON, MIM 535000 is one of the most common mitochondrial genetic disorders caused by three primary mtDNA mutations (m.3460G>A, m.11778G>A and m. 14484T>C. The clinical expression of LHON is affected by many additional factors, e.g. mtDNA background, nuclear genes, and environmental factors. Hitherto, there is no comprehensive study of Chinese LHON patients with m.14484T>C. METHODOLOGY/PRINCIPAL FINDINGS: In this study, we analyzed the mtDNA sequence variations and haplogroup distribution pattern of the largest number of Chinese LHON patients with m.14484T>C to date. We first determined the complete mtDNA sequences in eleven LHON probands with m.14484T>C, to discern the potentially pathogenic mutations that co-segregate with m.14484T>C. We then dissected the matrilineal structure of 52 patients with m.14484T>C (including 14 from unrelated families and 38 sporadic cases and compared it with the reported Han Chinese from general populations. Complete mtDNA sequencing showed that the eleven matrilines belonged to nine haplogroups including Y2, C4a, M8a, M10a1a, G1a1, G2a1, G2b2, D5a2a1, and D5c. We did not identify putatively pathogenic mutation that was co-segregated with m.14484T>C in these lineages based on the evolutionary analysis. Compared with the reported Han Chinese from general populations, the LHON patients with m.14484T>C had significantly higher frequency of haplogroups C, G, M10, and Y, but a lower frequency of haplogroup F. Intriguingly, we also observed a lower prevalence of F lineages in LHON subjects with m.11778G>A in our previous study, suggesting that this haplogroup may enact similar role during the onset of LHON in the presence of m.14484T>C or m.11778G>A. CONCLUSIONS/SIGNIFICANCE: Our current study provided a comprehensive profile regarding the mtDNA variation and background of Chinese patients with LHON and m.14484T>C. Matrilineal background might affect the expression of LHON

  4. The association between paternal age and schizophrenia in a Chinese Han population%父亲生育年龄与子女罹患精神分裂症的相关性分析

    Institute of Scientific and Technical Information of China (English)

    吴月静; 刘祥; 赵高峰; 马小红; 李涛

    2011-01-01

    Objective To investigate whether advanced paternal age is related to an increased risk of schizophrenia in Chinese Han population. Methods A case-control design study was performed. Three hundred and fifty-one patients with schizophrenia and 199 unrelated healthy volunteers were recruited. By using Logistic regression, paternal age was divided into five categories, and maternal age into four categories. Setting the paternal age of 26-30 years as reference, the OR, P values and 95% CI of the other paternal age categories were analyzed, respectively. The participant's sex, age and parental age at birth were used as covariants for adjusting confounding effects. Results The OR for schizophrenia in offspring whose paternal age at birth of 31-35 years, 36-40 years, and ≥41 years categories were 3.834, 8.805, and 11.619 respectively. The advanced maternal age had no significant effects on the risk for schizophrenia in offspring. Conclusion The advanced paternal age was associated with elevated risk for schizophrenia in offspring among a Han Chinese population. Putative biological mechanisms may include accumulated de novo mutations and alterations in epigenetic regulations with aging in spermatogenesis.%目的 探讨在汉族人群中生父生育年龄与子女罹患精神分裂症风险的相关性.方法 收集351例精神分裂症患者与199名健康志愿者进行病例对照研究.将患者生父母生育年龄分组,以26~30岁组作为参照组,分别对生父母生育年龄的不同组别进行分类变量的Logistic回归分析,并予被试年龄、性别、生母或生父生育年龄等进行校正.结果 校正后,与生育年龄在26~30岁的父亲相比,31~35岁、36~40岁、≥41岁3个年龄组父亲子女罹患精神分裂症的OR值分别为3.834、8.805和11.619(P0.05).生母各生育年龄组P值无统计学意义.结论 生父生育年龄与子女罹患精神分裂症显著相关;生父生育年龄越大,子女罹患精神分裂症的风险越

  5. Association Between Single Nucleotide Polymorphisms in DNA Polymerase Kappa Gene and Breast Cancer Risk in Chinese Han Population: A STROBE-Compliant Observational Study.

    Science.gov (United States)

    Dai, Zhi-Jun; Liu, Xing-Han; Ma, Yun-Feng; Kang, Hua-Feng; Jin, Tian-Bo; Dai, Zhi-Ming; Guan, Hai-Tao; Wang, Meng; Liu, Kang; Dai, Cong; Yang, Xue-Wen; Wang, Xi-Jing

    2016-01-01

    DNA polymerases are responsible for ensuring stability of the genome and avoiding genotoxicity caused by a variety of factors during DNA replication. Consequently, these proteins have been associated with an increased cancer risk. DNA polymerase kappa (POLK) is a specialized DNA polymerase involved in translesion DNA synthesis (TLS) that allows DNA synthesis over the damaged DNA. Recently, some studies investigated relationships between POLK polymorphisms and cancer risk, but the role of POLK genetic variants in breast cancer (BC) remains to be defined. In this study, we aimed to evaluate the effects of POLK polymorphisms on BC risk.We used the Sequenom MassARRAY method to genotype 3 single nucleotide polymorphisms (SNPs) in POLK (rs3213801, rs10077427, and rs5744533), in order to determine the genotypes of 560 BC patients and 583 controls. The association of genotypes and BC was assessed by computing the odds ratio (OR) and 95% confidence intervals (95% CIs) from logistic regression analyses.We found a statistically significant difference between patient and control groups in the POLK rs10077427 genotypic groups, excluding the recessive model. A positive correlation was also found between positive progesterone receptor (PR) status, higher Ki67 index, and rs10077427 polymorphism. For rs5744533 polymorphism, the codominant, dominant, and allele models frequencies were significantly higher in BC patients compared to healthy controls. Furthermore, our results indicated that rs5744533 SNP has a protective role in the postmenopausal women. However, we failed to find any associations between rs3213801 polymorphism and susceptibility to BC.Our results indicate that POLK polymorphisms may influence the risk of developing BC, and, because of this, may serve as a prognostic biomarker among Chinese women. PMID:26765445

  6. Expression of the difference between the Cold(Han) and Hot(Re) natures of traditional Chinese medicines(Strobal and Rhubarb) based on the cold/hot plate differentiating assay

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    In this study, objective differences between the Cold (Han) and Hot (Re) nature of traditional Chinese medicines, e.g. Strobal and Rhubarb, are determined by using a cold/hot plate differentiation technology. A novel, self-designed cold/hot plate differentiating instrument, with methodological study, was used to investigate the intervention of Strobal and Rhubarb on the temperature tropism of mice. Compared with the ICR and BALB/c mice, it was found that KM mice on the cold/hot plate were more sensitive to the change of temperature, within the tolerant temperature range of 15-40 ℃ . The temperature tropism behavior of mice is influenced by treatment with Rhubarb and Strobal, as is the activity of ATPase in liver tissue. These trends are consistent with the definition of the Cold/Hot nature of Chinese medicines based on traditional Chinese medicinal theory. This study showed that the differences of the Cold/Hot nature of traditional Chinese medicines. might be objectively represented by the temperature tropism of animal by means of cold/hot differentiating assay.

  7. -141C insertion/deletion polymorphism of the dopamine D2 receptor gene is associated with schizophrenia in Chinese Han population: Evidence from an ethnic group-specific meta-analysis.

    Science.gov (United States)

    Zhao, Xiaofeng; Huang, Yinglin; Chen, Kaiyuan; Li, Duolu; Han, Chao; Kan, Quancheng

    2016-09-01

    Accumulate evidence has implicated dopamine D2 receptor gene polymorphisms in the etiology of schizophrenia. A single nucleotide polymorphism, -141C insertion/deletion (Ins/Del) (rs1799732), in the promoter region of the dopamine D2 receptor gene has been linked to schizophrenia; however, the data are inconclusive. This study investigated whether the -141C polymorphism is associated with the risk of schizophrenia in different ethnic groups by performing a meta-analysis. A total of 24 case-control studies examining the association between -141C Ins/Del polymorphism and schizophrenia were identified according to established inclusion criteria. Significant association was revealed between -141C Ins/Del polymorphism and schizophrenia risk in dominant genetic model (Ins/Ins + Ins/Del versus Del/Del) (odds ratio = 0.33, 95% confidence interval = 0.14-0.81, z = 2.41, P = 0.02) in Chinese Han but not in Caucasian, Japanese or India populations. Our results indicate that -141C Ins/Del polymorphism might be a susceptibility factor for schizophrenia in Chinese Han population. PMID:26346037

  8. TP53 polymorphisms are involved in inverse colorectal cancer comorbidity in Chinese schizophrenia patients

    Institute of Scientific and Technical Information of China (English)

    Sun Liming; Huang Guoxin; Zhao Leyong; Chen Xiaofen; Chen Wenjiao

    2015-01-01

    The inverse cancer comorbidity in schizophrenia patients may be related to the genetic factors ,involving the regu‐lation of apoptosis .The tumour suppressor gene TP53 ,involved in neural apoptosis ,is one of the potential candidate genes associat‐ed with schizophrenia which might reduce colorectal cancer risk .We recruited 270 schizophrenia patients and 312 colorectal cancer patients without schizophrenia .To examine the genetic association between schizophrenia and colorectal cancer ,we analysed eight SNPs (rs12951053 ,rs1625895 ,rs2909430 ,rs9895829 ,rs1042522 ,rs8079544 ,rs8064946 ,rs17806770) covering 14 .35 kb in the re‐gion of TP53 .We observed that one of the eight genetic polymorphisms showed statistically significant differences between the colo‐rectal cancer subjects and the schizophrenia subjects (rs12951053 ,P=0 .000 1 ,OR 1 .70 ,95% CI 1 .30-2 .23) .In addition ,the hap‐lotype of A‐G (rs12951053‐rs8064946) ,giving a global P=0 .001 8 ,was the most significant .Our data indicate that the polymor‐phisms of rs12951053 in TP53 confer reduced susceptibility to colorectal cancer and suggest a potential protective mechanism a‐gainst colorectal cancer in the schizophrenia patients of Han Chinese origin .

  9. Glucose intolerance in Chinese patients with chronic hepatitis C

    Institute of Scientific and Technical Information of China (English)

    Liang-Kung Chen; Shinn-Jang Hwang; Shih-Tzer Tsai; Jiing-Chyuan Luo; Shou-Dong Lee; Full-Young Chang

    2003-01-01

    AIM: To investigate the prevalence and the risk factors of glucose intolerance in Chinese patients with chronic hepatitis C and to evaluate the relationship between interferon (IFN)treatment and glucose intolerance in these patients.METHODS: Prospective cross-sectional study was done to evaluate the prevalence of glucose intolerance in Chinese patients with chronic hepatitis C virus (HCV) infection from the outpatient clinic of Department of Family Medicine, Taipei Veterans General Hospital. Chronic hepatitis C was defined as persistent presence of anti-HCV and persistent elevation of liver transaminase for at least 1.5 folds for at least 6 months. Moreover, patients were further categorized into normal fasting glucose and glucose intolerance (diabetes mellitus (DM) and impaired fasting glucose) according to the diagnostic criteria of American Diabetic Association. RESULTS: Totally, 359 Chinese patients with chronic hepatitis C were enrolled (212 males and 147 females, mean age=58.1±13.0 years). One hundred and twenty-three patients (34.3 %) had various forms of IFN treatment. One hundred and twenty-five patients (34.6 %)had glucose intolerance, including 99 patients (27.6 %) with DM and 26 patients (7.0 %) with impaired fasting glucose.Tn comparison with those with normal fasting glucose levels,patients with chronic hepatitis C with glucose intolerance were significantly older, had a significantly higher body mass index, and they were more likely to suffer from obesity, to have family history of diabetes and to have had previous IFN treatment. Stepwise multivariate logistic regression revealed significantly that age ≥ 57 years, obesity,previous history of IFN treatment and the presence of family history of diabetes were independent risk factors associated with the presence of glucose intolerance in chronic hepatitis C patients.CONCLUSION: In conclusion, 34.6 % of Chinese patients with chronic hepatitis C had glucose intolerance. Chronic hepatitis C patients who

  10. Prediabetes Is Associated with HNF-4α P2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

    Science.gov (United States)

    Wang, Changyi; Chen, Sihan; Zhang, Tao; Chen, Zhongwei; Liu, Shengyuan; Peng, Xiaolin; Ma, Jianping; Zhong, Xiaohong; Yan, Yanqiong; Tang, Linlin; Mai, Yifeng; Han, Liyuan

    2014-01-01

    Background. Controversy remains for the association between hepatocyte nuclear factor 4α (HNF-4α) P2 promoter polymorphism rs1884613 and type 2 diabetes (T2D). There was no association test of this polymorphism with prediabetes and T2D in the Chinese population. Moreover, an updated meta-analysis in various ethnic groups is needed to establish the contribution of rs1884613 to T2D risk. Methods. Using the Sequenom MassARRAY platform approach, we genotyped rs1884613 of HNF-4α in the P2 promoter region among 490 T2D patients, 471 individuals with prediabetes, and 575 healthy controls. All the individuals were recruited from 16 community health service centers in Nanshan district in Shenzhen province. Using STATA 11.0 software, meta-analysis was performed to summarize the overall contribution of rs1884613 to T2D risk. Results. Polymorphism rs1884613 was associated with genetic susceptibility to prediabetes in the whole samples (OR = 1.40, 95% CI = 1.16–1.68, P = 0.0001) and the female subgrouped samples (OR = 1.48, 95% CI = 1.14–1.92, P = 0.003) after adjusting for age and body mass index (BMI). In contrast, there was no association of rs1884613 with T2D in the whole samples and male in our case-control study and meta-analysis. Conclusions. Our results suggest that rs1884613 contributes to susceptibility to prediabetes, whereas this polymorphism may not play an important role in the development of T2D. PMID:25400315

  11. Prediabetes Is Associated with HNF-4α P2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Changyi Wang

    2014-01-01

    Full Text Available Background. Controversy remains for the association between hepatocyte nuclear factor 4α (HNF-4α P2 promoter polymorphism rs1884613 and type 2 diabetes (T2D. There was no association test of this polymorphism with prediabetes and T2D in the Chinese population. Moreover, an updated meta-analysis in various ethnic groups is needed to establish the contribution of rs1884613 to T2D risk. Methods. Using the Sequenom MassARRAY platform approach, we genotyped rs1884613 of HNF-4α in the P2 promoter region among 490 T2D patients, 471 individuals with prediabetes, and 575 healthy controls. All the individuals were recruited from 16 community health service centers in Nanshan district in Shenzhen province. Using STATA 11.0 software, meta-analysis was performed to summarize the overall contribution of rs1884613 to T2D risk. Results. Polymorphism rs1884613 was associated with genetic susceptibility to prediabetes in the whole samples (OR = 1.40, 95% CI = 1.16–1.68, P=0.0001 and the female subgrouped samples (OR = 1.48, 95% CI = 1.14–1.92, P=0.003 after adjusting for age and body mass index (BMI. In contrast, there was no association of rs1884613 with T2D in the whole samples and male in our case-control study and meta-analysis. Conclusions. Our results suggest that rs1884613 contributes to susceptibility to prediabetes, whereas this polymorphism may not play an important role in the development of T2D.

  12. Challenges to culturally sensitive care for elderly chinese patients: a first-generation Chinese-American perspective.

    Science.gov (United States)

    Chan, Karen C

    2013-01-01

    Physicians and medical institutions in the United States are placing increasing emphasis on providing culturally sensitive care for patients, such as implementing a Confucian family-based model of medical decision making when caring for elderly Chinese patients. In this article, I articulate various reasons why deferring to the family is not a guarantee of culturally sensitive care, particularly when family members are first-generation Chinese-Americans. Nonetheless, I offer several suggestions to help physicians, medical institutions, and family members to provide more culturally sensitive care for elderly Chinese patients. PMID:24597422

  13. Association of ACE gene I/D polymorphism and diabetic nephropathy in Chinese Han population: a Meta-analysis%中国汉族人群糖尿病肾病ACE基因I/D多态性的Meta-分析

    Institute of Scientific and Technical Information of China (English)

    刘晓丹; 范秋灵; 姚丽; 朱新旺; 刘强; 王力宁

    2012-01-01

    [Objective] To evaluate the relationship between genetic polymorphism of angiotensin-converting enzyme (ACE) and diabetic nephropathy (DN) in Chinese Han population. [Methods] Databases including Pubmed, CNKI, CBM and WanFang Data were searched from their establishment to December 2011 to collect the literature about the relationship between genetic polymorphism of ACE and DN in Chinese Han population. Meta analysis by Stata11.0 was adopted to conduct consistency check and data merging, and to evaluate publication bias. [Results] Meta-analysis results showed that the pooled OR of DD genotype compared to DI+Ⅱ genotype under recessive model was 1.96(95%CI, 1.72~2.22), and the pooled OR value of DI+DD genotype compared to Ⅱ genotype under dominant model was 1.78(95% CI, 1.49~2.12), both with significant difference. [Conclusion] ACE gene I/D polymorphism is associated with susceptibility of DN in Chinese Han population.%[目的]综合评价中国汉族人群血管紧张素转换酶(angiotensin convertion enzyme,ACE)基因多态性与糖尿病肾病(diabetic nephropathy,DN)的相关性.[方法]通过检索文献数据库收集ACE基因多态性与中国汉族人群DN相关性的文献.应用Stata1 1.0统计学软件运用Meta-分析法对各研究结果进行一致性检验和数据合并,并评估发表偏倚.[结果]通过37项研究Meta分析,结果显示,隐性模型下DD基因型相对于DI+Ⅱ基因型的OR值为1.96(95%CI,1.72~2.22);显性模型下DI+DD基因型相对于Ⅱ基因型的OR值为1.78(95%CI,1.49 ~ 2.12),差异具有统计学意义.[结论]ACE基因I/D多态性与我国汉族人群DN的易感性相关.

  14. WARM CONGRATULATIONS TO PROFESSOR CHEN QINGRU,QIAN MINGGAO AND HAN DEXIN ON BEING ELECTED AS ACADEMICIANS OF THE CHINESE ACADEMY OF ENGINEERING

    Institute of Scientific and Technical Information of China (English)

    张振康

    1995-01-01

    On June 20, 1995, the Chinese Academy of Engineering Presidet Zhu Guangya informed the Ministry of Coal Industry that with the approval of the State Council, Professor Chen Qingru, Qian Minggao and Hart Dexin from China University of Mining and Technology were elected as academicians of the Chinese Academy of Engineering in May 1995. Professor Chen Qingru was elected for his outstanding contributions in the areas of chemical, metallurgical and materials engineering. Professor Qian Minggao and Hart Dexin were elected for their remarkable contributions in the areas of energy resources and mining engineering.

  15. Treating malignant glioma in Chinese patients: update on temozolomide

    Directory of Open Access Journals (Sweden)

    Chang L

    2014-02-01

    Full Text Available Liang Chang,1 Jun Su,1 Xiuzhi Jia,2,3 Huan Ren2,3 1Department of Neurosurgery, The Tumor Hospital of Harbin Medical University, 2Department of Immunology, Harbin Medical University, 3Key Lab Infection and Immunity, Heilongjiang Province, Harbin, People's Republic of China Abstract: Malignant glioma, ie, anaplastic astrocytoma and glioblastoma, is the most common type of primary malignant brain tumor in the People's Republic of China, and is particularly aggressive. The median survival of patients with newly diagnosed glioblastoma is only 12–14 months despite advanced therapeutic strategies. Treatment of malignant glioma consists mainly of surgical resection followed by adjuvant radiation and chemotherapy. Temozolomide (TMZ, a second-generation oral alkylating agent, is playing an increasingly important role in the treatment of malignant glioma in Chinese patients. Since the publication of a study by Stupp et al in 2005, which used a protocol of conventional fractionated irradiation with concomitant TMZ followed by standard TMZ for six cycles, many clinical studies in the People's Republic of China have demonstrated that such a treatment strategy has significantly improved efficacy with limited side effects for newly diagnosed glioblastoma after surgery as compared with strategies that do not contain TMZ. However, as a relatively new agent, the history and development of TMZ for malignant glioma is not well documented in Chinese patients. Multicenter, randomized controlled trials including appropriately sized patient populations investigating multiple aspects of TMZ therapy and related combination therapies are warranted in patients with malignant glioma. This review provides an update on the efficacy, mechanism of action, adverse reactions, and clinical role of TMZ in the treatment of malignant glioma in Chinese patients. Keywords: malignant glioma, chemotherapy, temozolomide, efficacy, side effect, People's Republic of China

  16. 中国汉人 X染色体上情感障碍易感性基因的遗传学研究及关联分析%Susceptible gene for affection disorder of chromosome X in Han people of Chinese:genetical study and relative analysis

    Institute of Scientific and Technical Information of China (English)

    吴怀安; 闫小华; 邓小敏; 沈其杰

    2002-01-01

    Objective In order to detect the Susceptible gene on X chromosome for Han nationality of Chinese who suffer from affective disorder(AD),to explore the association between DXS1114 polymorphism and AD and the feature of genetics.Method We used the technique of the amplified fragment length polymorphism(Amp FLP)to detect the polymorphism distribution of DXS1114 for 40 patients with AD and 40 normal controls.Results We found that there were 4 polymorphism fragments of DXS1114 on the γ -chromosome in AD and normal controls.The result of statistics showed that four polymorphism fragments(117bp.113bp.111bp 109bp)had not significant difference(P>0.05)between patients and normal controls.Conclusion We report that the DXS1114 is not associated with Chinese who suffer from AD.The results indicate that there maybe no a susceptible gene of AD on xq26.1 in our research simples.

  17. Large C9orf72 repeat expansions are seen in Chinese patients with sporadic amyotrophic lateral sclerosis.

    Science.gov (United States)

    Chen, Yongping; Lin, Ziqiang; Chen, Xueping; Cao, Bei; Wei, Qianqian; Ou, Ruwei; Zhao, Bi; Song, Wei; Wu, Ying; Shang, Hui-Fang

    2016-02-01

    An intronic GGGGCC hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 (C9orf72) gene was considered as the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in Caucasian populations. Using repeat-primed polymerase chain reaction analysis and Southern blotting methods, we assessed the frequency and size of hexanucleotide repeat expansion in a cohort of 918 sporadic ALS (SALS) patients and 632 control individuals of Han Chinese origin. We identified 8 (0.87%) of the SALS patients and none of control individuals as carriers of C9orf72 expansions with 700-3500 repeats. A comprehensive neuropsychological battery was conducted on 4 expansion-positive ALS patients, where 3 patients were found to have cognitive impairment. All expansion-positive patients were genotyped for the previously reported 20 single-nucleotide polymorphism (SNP) risk haplotypes on chromosome 9p21. Among them, 13 SNP risk haplotypes were shared in all expansion carriers, suggesting a common founder from European ancestry. Further meta-analysis demonstrated that the intermediate expansion size with 24-30 repeats, rare in both patients and controls, were significantly associated with the risk for ALS. To our knowledge, this is the first study to identify a proportion of Chinese SALS patients carrying this pathologic expansion of up to ∼3500 repeats and to completely elaborate the 20-SNP risk haplotypes in Chinese expansion-positive patients, providing indispensable evidence for the origin, geographical range, and population prevalence of the C9orf72-associated ALS. PMID:26725464

  18. Analysis of Y-chromosomal biallelic potymorphisms in Sichuan Han of Chinese population%中国四川汉族人群Y染色体单核苷酸多态性分析

    Institute of Scientific and Technical Information of China (English)

    宋晓红; 张海军; 云力兵; 高爽; 王玉; 吴谨; 彦静; 李英碧; 侯一平

    2008-01-01

    Objective To evaluate the forensic utility of Y-single nucleotide polymorphisms(SNPs) markers.Methods Allele-specffic PCR,restriction enzyme digestion or direct PCR were performed to examine 10 different SNP loci on Y chromosome,namely M9,M15,M45,M89,M95,M122, M134, M145,M173 and P25 in 161 Chinese Han males.Results A total of 8 of the 10 SNIPs are reported to be polymorphic in Chincse.The gene diversity for the loci showing polymorphism ranged from 0.988/0.012-0.752/0.248,with a power of discrimination 0.094-0.373.Loci M122 and M134 were the most polymorphic markers in Chinese Hans.Nine different haplogroups with frequencies from 1.2%tO 51.6% were observed and 3 of the haplogroups-K * (x 02a,03,P),03 *(x 03e) and 03e were found in 75.2%of Chinese Hans.Conclusion A comprehensive gene diversity data of Y chromosome and haplogroups were obtained in Sichuan Han population.which will be served as the base for using these Y-SNP markers in forensic medicine and individual identification in Sichuan Hans.%目的 评估Y染色体单核苷酸多态性(single nucleotide polymorphisms,SNPs)遗传标记的法医学应用价值.方法 用等位基因特异性PCR,限制性酶切和直接扩增法检测了161名中国四川汉族人Y染色体上10个SNPs位点M9,M15,M45,M89,M95,M122,M134,M145,M173和P25的多态性.结果 有8个位点发现遗传多态性,多态性频率0.988/0.012~0.752/0.248.个人识别能力0.094~0.373,累积个人识别能力为0.8308,M122和M134在中国四川汉族人群中的多态性最高.按照国际Y染色体学会的命名原则,10个位点命名了9种单倍组型,单倍组型频率1.2%~52.2%,其中75.2%的中国四川汉族人主要是K*(XO2a,O3,P),O3*(XO3e)和O3e 3种单倍组型.结论 该研究获得了中国四川汉族人群Y染色体的10个SNPs位点的多态性频率分布及其构建的9种单倍组型,为Y-SNPs做为法医遗传学个人识别和亲子鉴定的遗传标记奠定了基础.

  19. Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    Mutations in mitochondrial DNA are one of the important causes of hearing loss. We report here the clinical, genetic, and molecular characterization of two Han Chinese pedigrees with maternally transmitted aminoglycoside-induced and nonsyndromic bilateral hearing loss. Clinical evaluation revealed the wide range of severity, age-at-onset, and audiometric configuration of hearing impairment in matrilineal relatives in these families. The penetrances of hearing loss in these pedigrees were 20% and 18%, when aminoglycoside-induced deafness was included. When the effect of aminoglycosides was excluded, the penetrances of hearing loss in these seven pedigrees were 10% and 15%. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the presence of the deafness-associated 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations. Their distinct sets of mtDNA polymorphism belonged to Eastern Asian haplogroup C4a1, while other previously identified six Chinese mitochondrial genomes harboring the C1494T mutation belong to haplogroups D5a2, D, R, and F1, respectively. This suggested that the C1494T or G7444A mutation occurred sporadically and multiplied through evolution of the mitochondrial DNA (mtDNA). The absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in their mtDNA suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the 12S rRNA C1494T and CO1/tRNASer(UCN) G7444A mutations in those Chinese families. However, aminoglycosides and other nuclear modifier genes play a modifying role in the phenotypic manifestation of the C1494T mutation in these Chinese families

  20. A Comparison of English Writing of Ethnic Minority Students and Han Chinese Students in a Local University%地方高校少数民族与汉族学生英语写作对比分析

    Institute of Scientific and Technical Information of China (English)

    石常艳; 杨艳

    2011-01-01

    从某地方高校少数民族学生与汉族学生英语写作对比分析显示,少数民族学生主要受第二语言汉语的负迁移影响,因此同汉族学生一样,写作中出现了发展性偏误、汉语负迁移偏误。另外,少数民族学生和以汉语为母语学生英语基本都不扎实,作文中本体层次的偏误较多,而且少数民族语熟练学生在英语学习中,同时受母语和汉语的干扰,但汉语干扰多于母语干扰。%An analysis of English writing of both ethnic minority students and Han students in a local university showsthat ethnic minority students were mainly influenced by Chinese as the second language,so developmental errors and Chinesenegative transfer errors appeared frequently in their English writing.On the other hand,ethnic minority students and students with Chinese as native language were weakin the basic English knowledge,and there are many grammar errors intheir compositions.Furthermore,ethnic minority students who are fluent in their mother language are affected by both mother language and Chinese in their English study,and Chinese transfer is more than that of mother language.

  1. Two novel mutations of the GTP cyclohydrolase 1 gene and genotype-phenotype correlation in Chinese Dopa-responsive dystonia patients.

    Science.gov (United States)

    Yu, Lihua; Zhou, Huayong; Hu, Fayun; Xu, Yanming

    2013-07-01

    The most common form of Dopa-responsive dystonia (DRD) is caused by heterozygous mutations in the GTP cyclohydrolase I (GCH1) gene. We screened two unrelated, DRD-symptomatic Chinese Han individuals, for GCH1 gene mutations by direct sequencing. As the clinical manifestations of DRD are highly variable, we also explored the association between genotype and phenotype in all Chinese DRD patients reported so far in the literature, comprising 62 DRD-affected patients from 36 Chinese families. Two novel missense mutations (T94M, L145F) and a novel variant (c. 453+6 G>T) were identified in our two new patients. None of these variants was detected in 200 healthy controls. On the basis of this and other reports, heterozygous mutations were detected in 90.3% of Chinese Han subjects with DRD. Seeming the age of onset for males and females, the mean age was 13 years older in males than in females (P=0.006). Different mutation types did not show any significant differences in age of onset, gender composition, initial symptoms, or the L-dopa dose that abolished the symptoms. Among DRD patients lacking missense or exon-intron boundary mutations, 68.4% were found to possess a large deletion in GCH1, which were detected by multiplex ligation-dependent probe amplification. Most GCH1 mutations were found to cluster in two regions of the coding sequence, suggesting the probable existence of mutation hotspot for the first time. The genotype-phenotype correlation described here may improve our understanding of DRD in Chinese individuals. PMID:23211702

  2. 新疆地区部分汉族职业人群症状自评量表常模建立%Establishment of SCL-90 norm for part of Han-Chinese occupational population in Xinjiang region

    Institute of Scientific and Technical Information of China (English)

    宁丽; 连玉龙; 刘继文

    2012-01-01

    目的 建立新疆地区部分汉族职业人群症状自评量表(SCL-90)常模,为当地职业人群的心理健康研究提供本底资料.方法 采用SCL-90对新疆2 246名石油工人、中小学教师、医生、银行职员、环境保护管理技术人员心理健康状况进行测查,计算信度、效度,并分析相关结果.结果 全量表内部一致性高达0.981,总体折半相关系数为0.944;各个分量表之间的相关系数为0.537 ~0.822,各分量表与总量表的相关系数为0.669 ~0.908;信度、效度良好.2 246名汉族职业人群SCL-90量表得分与全国常模比较,人际敏感得分低于全国常模(P<0.05);躯体化、强迫、抑郁、焦虑、敌对、精神病性因子得分均显著高于全国常模(P<0.05).各因子分、总分存在职业、年龄、工龄的差异.结论 新疆地区部分汉族职业人群SCL-90常模具有较高的内部一致性和较好的内容结构效度,可进行推广应用.%Objective To establish a SCL-90 norm for part of occupational population of Han-Chinese in Xinjiang region and to collect localized background information and data for further research on psychological health in this occupational group. Methods With SCL-90, the psychological health conditions were assessed among 2 246 Han-Chinese working people including oil workers, primary and middle school teachers, physicians, bank staff and environmental workers. The reliability, validity and correlation of the data were calculated and analyzed. Results The overall internal consistency value of the full scale was 0.981 and the split-half reliability coefficient was 0. 944; the correlation coefficients values between the subscales were varied from 0. 337 to 0. 822, the correlation coefficient values between the general scale and different subscales were varied from 0. 669 to 0. 908. Compared with the national norm of the SCL-90, the results of 2 246 Han-Chinese working people showed that the score of interpersonal

  3. Health Literacy, Computer Skills and Quality of Patient-Physician Communication in Chinese Patients with Cataract

    OpenAIRE

    Xianchai Lin; Mei Wang; Yajing Zuo; Mingge Li; Xiaofeng Lin; Siping Zhu; Yongxin Zheng; Minbin Yu; Lamoureux, Ecosse L.

    2014-01-01

    PURPOSE: The aim of the study was to assess levels of health literacy and computer skills in Chinese patients with cataract, and their impact on the doctor-patient relationship. METHODS: We undertook a cross-sectional study of cataract patients scheduled for cataract extraction procedures in Guangdong Province, China. Generic health literacy was assessed using 3 established screening questions. Adequate computer skills was determined if patients had used a computer and routinely used search e...

  4. Clinical and laboratory characteristics of systemic anaplastic large cell lymphoma in Chinese patients

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    Wang Yan-Fang

    2012-07-01

    Full Text Available Abstract Background Systemic anaplastic large cell lymphoma (S-ALCL is a rare disease with a highly variable prognosis and no standard chemotherapy regimen. Anaplastic lymphoma kinase (ALK has been reported as an important prognostic factor correlated with S-ALCL in many but not all studies. In our study, we retrospectively analyzed 92 patients with S-ALCL from the Peking University Lymphoma Center for clinical and molecular prognostic factors to make clear the role of ALK and other prognostic factors in Han Chinese S-ALCL. Results The majority of Chinese S-ALCL patients were young male patients (median age 26, male/female ratio 1.7 and the median age was younger than previous reports regardless of ALK expression status. The only statistically significant different clinical characteristic in S-ALCL between ALK positive (ALK+ and ALK negative (ALK- was age, with a younger median age of 22 for ALK+ compared with 30 for ALK-. However, when pediatric patients (≤18 were excluded, there was no age difference between ALK+ and ALK-. The groups did not differ in the proportion of males, those with clinical stage III/IV (49 vs 51% or those with extranodal disease (53 vs 59%. Of 73 evaluable patients, the 3-year and 5-year survival rates were 60% and 47%, respectively. Univariate analysis showed that three factors: advanced stage III/IV, lack of expression of ALK, and high Ki-67 expression, were associated with treatment failure in patients with S-ALCL. However, ALK expression correlated with improved survival only in patients younger than 14 years, while not in adult patients. In multivariate analysis, only clinical stage was an independent prognostic factor for survival. Expressions of Wilms tumor 1 (WT1 and B-cell lymphoma 2 protein (BCL-2 correlated with the expression of ALK, but they did not have prognostic significance. High Ki-67 expression was also a poor prognostic factor. Conclusions Our results show that ALK expression alone is not

  5. High incidence of thrombophilia detected in Chinese patients with venous thrombosis

    OpenAIRE

    Liu, HW; Kwong, YL; BOURKE, C; Lam, CK; Lie, AKW; Wei, D; Chan, LC

    1994-01-01

    Venous thromboembolism is rare in Chinese. To determine the incidence and disease profile of thrombophilia in Chinese patients with thrombosis, 52 unselected Chinese patients with documented venous thrombosis were studied for the presence of thrombophilia. Levels of antithrombin III (AT III), protein C (PC) and protein S (PS) as well as the presence of acquired lupus anticoagulant (LA) and anticardiolipin antibody (ACA) were investigated. Thirty patients were found to be abnormal. These consi...

  6. Characteristics of Agraphia in Chinese Patients with Alzheimer's Disease and Amnestic Mild Cognitive Impairment

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    Jiong Zhou

    2016-01-01

    Conclusions: Our study confirmed that agraphia is an important feature in patients with AD. The writing error profile in patients whose native language is Chinese was unique compared to patients using the alphabetic language system.

  7. Frequency of RBC Alloantibodies in Chinese Surgical Patients.

    Science.gov (United States)

    Wang, Qiushi; Yang, Qiaoni; Bai, Yingzhe; Zhang, Chengxin; Diao, Yanni; Fang, Deqiang

    2012-08-01

    BACKGROUND: The aim of this study was to evaluate the frequency of red blood cell (RBC) alloantibodies in surgical patients. METHODS: Blood samples of 18,980 Chinese surgical patients were collected and tested between January 2009 and September 2010. For patients with RBC alloantibodies, sequences of antibodies were identified with the DiaMed Asia antibody screening system. Data regarding sex, age, transfusion history, pregnancy history, and alloantibody specificity were collected. RESULTS: 39 alloantibodies were identified from 18,980 samples, yielding a prevalence of 0.21%. The most frequently identified alloantibodies were Rhesus system antibodies (28/39, 71.8%), including anti-E (17/39; 1 anti-E accompanied by anti-Fy(b)), anti-c (5/39), anti-cE (2/39), anti-C(w) (1/39), anti-D (1/39), and anti-e (1/39). Other antibodies included anti-M (5/39), anti-Le(a) (2/39), anti-Le(b) (1/39), anti-K+S (1/39), anti-JK(a) (1/39), and anti-JS(a) (1/39). The frequency of alloantibodies was greater in females than in males (31 vs. 8). CONCLUSION: The results show a higher prevalence of RBC alloantibodies in females than in males. Anti-E was the most common alloantibody identified in this Chinese surgical population and was also more frequent in females compared to males. PMID:22969699

  8. Somatosensory abnormalities in Chinese patients with painful temporomandibular disorders

    DEFF Research Database (Denmark)

    Yang, Guangju; Baad-Hansen, Lene; Wang, Kelun;

    2016-01-01

    BACKGROUND: The somatosensory phenotype of Chinese temporomandibular disorders (TMD) patients is not sufficiently studied with the use of contemporary techniques and guidelines. METHODS: A standardized quantitative sensory testing (QST) battery consisting of 13 parameters with a stringent.......0 % had abnormalities confined to the right hand. The most frequent abnormalities were somatosensory gain to pinprick (35.0 %) and pressure (35.0 %) stimuli, somatosensory loss to pinprick (25.0 %), cold (22.5 %), and heat (15.0 %) nociceptive stimuli. The most frequent loss/gain score was L0G2 (no...

  9. Prediabetes Is Associated with HNF-4α P2 Promoter Polymorphism rs1884613: A Case-Control Study in Han Chinese Population and an Updated Meta-Analysis

    OpenAIRE

    Changyi Wang; Sihan Chen; Tao Zhang; Zhongwei Chen; Shengyuan Liu; Xiaolin Peng; Jianping Ma; Xiaohong Zhong; Yanqiong Yan; Linlin Tang; Yifeng Mai; Liyuan Han; Shiwei Duan

    2014-01-01

    Background. Controversy remains for the association between hepatocyte nuclear factor 4α (HNF-4α) P2 promoter polymorphism rs1884613 and type 2 diabetes (T2D). There was no association test of this polymorphism with prediabetes and T2D in the Chinese population. Moreover, an updated meta-analysis in various ethnic groups is needed to establish the contribution of rs1884613 to T2D risk. Methods. Using the Sequenom MassARRAY platform approach, we genotyped rs1884613 of HNF-4α in the P2 promoter...

  10. Association of variants in CDKN2A/2B and CDKAL1 genes with gestational insulin sensitivity and disposition in pregnant Han Chinese women

    OpenAIRE

    Mei, Jie; Liao, Shunyao; Liu, Yunqiang; Tan, Yuande; Wang, Hailian; Liang, Yaming; Dong, Xianjue; Song, Wenzhong; Gan, Lu; Deng, Shaoping

    2015-01-01

    Aims/Introduction Variants in cell cycle regulation genes, CDKAL1 and CDKN2A/2B, have been suggested to be associated with type 2 diabetes, and also play a role in insulin procession in non-diabetic European individuals. Rs7754580 in CDKAL1 and rs7020996 in CDKN2A/2B were found to be associated with gestational diabetes in Chinese individuals. In order to understand the metabolism mechanism of greatly upregulated maternal insulin signaling during pregnancy and the pathogenesis of gestational ...

  11. 11个携带线粒体tRNASer(UCN)G7444A突变的中国汉族非综合征型耳聋家系分析评估%Evaluation of mitochondrial tRNASer(UCN) G7444A mutation associated with non-syndromic hearing loss in eleven Han Chinese pedigrees

    Institute of Scientific and Technical Information of China (English)

    唐霄雯; 管敏鑫; 阳娅玲; 高应龙; 肖红利; 何哲耘; 郑静; 郑斌娇; 吕建新; 金龙金

    2014-01-01

    Chinese Han pedigrees with mitochondrial tRNASer(UCN) G7444A mutation underwent audiological testing, deafness associated mutational hot spots screen-ing and pedigree assessment.Results: Among the 2 650 Han Chinese non-syndromic deafness subjects, 22 pa-tients belonging to 11 pedigrees carried mitochondrial tRNASer(UCN) G7444A mutation, account for 0.7%. Num-ber of pedigree carry both mitochondrial tRNASer(UCN) G7444A mutation and mitochondrial 12S rRNA A1555G, mitochondrial 12S rRNA C1494T orGJB2 c.235delC mutation were 3, 1, 2 respectively. Clinical data showed that there were huge difference in the severity of hearing loss, age of onset and penetrance among these 11 Chi-nese Han non-syndromic deafness pedigrees. The average penetrance of these pedigrees carrying mitochondrial tRNASer(UCN) G7444A mutation and mitochondrial 12S rRNA A1555G, C1494T orGJB2 c.235delC mutation were 29.4%, 42.9% and 19.0% respectively. The average penetrance of 4 pedigrees carrying the mitochondrial tRNASer(UCN) G7444A mutation and mitochondrial 12S rRNA A1555G or C1494T mutation is signiifcantly higher than that of carry mitochondrial tRNASer(UCN) G7444A mutation, it was 14.0%.Conclusion: Mitochondrial tRNASer(UCN) G7444A mutation and mitochondrial 12S rRNA A1555G or C1494T mutations may co-modulate the variable penetrance and expressivity of deafness among these Han Chinese non-syndromic pedigrees.

  12. The application of Han Dynasty cultural elements to modern product design

    OpenAIRE

    Chen, L.; KANG, J; Zhang, L.; Wang, M.; Wang, D

    2014-01-01

    Chinese Han Culture, as Chinese nation's "core culture", is the cultural symbol of Chinese nation, and played an important role in the history of Chinese cultural development, even in the history of world cultural development. Designing in the Han Dynasty, while inheriting Chinese traditional culture, but also having its unique style, are appreciated and respected by the people nowadays. In a modern society where the design is becoming more diversified, the innovative design based on traditio...

  13. Prevalence of diabetes among Han, Manchu and Korean ethnicities in the Mudanjiang area of China: a cross-sectional survey

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    Feng Yan

    2012-01-01

    Full Text Available Abstract Background Rapid socioeconomic development resulting in changing lifestyles and life expectancy appears to be accompanied by an increasing prevalence of type 2 diabetes. Genetic predisposition related to ethnicity is a major determinant of diabetes risk. This study investigates the prevalences of diabetes and prediabetes in different ethnic populations residing in the Mudanjiang area located in the northeast of China. Methods A cross-sectional survey was carried out among Han, Manchu and Korean Chinese aged 20 years or older. Diabetes and prediabetes were diagnosed using standard oral glucose tolerance tests. Results The prevalence of diabetes in Manchu (8.39% and Korean Chinese (9.42% was significantly lower than that in Han (12.10%. The prevalence of prediabetes was 18.96%, 19.36% and 20.47% in Han, Manchu and Korean populations, respectively. Korean Chinese had a lower prevalence of isolated impaired fasting glucose and higher prevalence of isolated impaired glucose tolerance than the other two ethnic groups. Most patients with diabetes, especially ethnic minority patients, were undiagnosed. A multiple logistic regression analysis showed that age, family history of diabetes, control of diet, self-monitoring of weight, central obesity, increased heart rate, hypertension, elevated plasma triglyceride level, elevated plasma low-density lipoprotein cholesterol, and Han ethnicity were significantly associated with an increased risk of diabetes. Further, Manchu Chinese were found to have the lowest risk of diabetes. Conclusions Our study indicates that diabetes is a major public health problem in the Mudanjiang area of China. Ethnicity plays a role in the different prevalences of diabetes and prediabetes among the three ethnic groups. Diabetes is less prevalent among Manchu Chinese compared with Han and Korean Chinese.

  14. Risk factors for postoperative seromas in Chinese breast cancer patients

    Institute of Scientific and Technical Information of China (English)

    LIN Yan-ping; YIN Wen-jin; YAN Ting-ting; ZHOU Li-heng; DI Geng-hong; WU Jiong; SHEN Zhen-zhou; SHAO Zhi-min; LU Jin-song

    2011-01-01

    S:Background Seroma formation is one of the most common complications after breast cancer surgery. Various risk factors have been evaluated for their associations with the development of seromas in Western populations. However,similar data are not available in Chinese series. Therefore, we sought to investigate the potential risk factors for Chinese breast cancer patients.Methods A prospective study of female breast cancer patients undergoing surgery was carried out in Cancer Hospital of Fudan Unversity, Shanghai, China. Univariate analyses were performed by chi-square test or Student's t test or Mann-Whitney test and multivariate analyses by stepwise Logistic regression. The logistic model included age (years),total serum protein concentration (g/L), drainage volume on postoperative day 3 (POD 3; ml) and time to daily drainage volume not more than 30 ml (TTV30; days).Results A total of 158 patients with breast cancer were studied. The mean age at diagnosis was (52.14±10.77) years (range 25-92). During the follow-up period, 24 (15.2%) patients developed seromas. Calculated as continuous variables in the stepwise Logistic regression, age (OR=1.090, 95% CI 1.028-1.155, P=0.004), total serum protein concentration (OR=0.886, 95% Cl 0.791-0.992, P=0.036), drainage volume on POD3 (OR=1.013, 95% CI 1.002-1.023, P=0.017) and TTV30 (OR=1.273, 95% CI 1.039-1.561, P=0.020) were independent risk factors for seroma formation. Additionally,significant difference in daily drainage volume was substantiated in the analysis by seroma formation (P=0.034) rather than by type of surgery (P=0.713).Conclusions Although the pathogenesis of seroma remains controversial, such risk factors as age, nutritional status,drainage volume on POD3 and TTV30 should be considered for prediction and prevention of seroma formation in Chinese breast cancer patients.

  15. Correlates of 25-hydroxyvitamin D among Chinese breast cancer patients.

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    Liang Shi

    Full Text Available BACKGROUND: Few studies have investigated vitamin D status in association with modifiable lifestyle factors and clinical characteristics among breast cancer patients, with no studies among Chinese women, who may be at higher risk of vitamin D deficiency. We aimed to evaluate circulating 25-hydroxyvitamin D (25(OHD levels in association with clinical and lifestyle factors among 1,940 Chinese breast cancer patients. METHODS: Participants included breast cancer cases aged 22-77 from a population-based case-control study conducted in Shanghai, China during 1996-1998 (n = 1,044 and 2002-2005 (n = 896. Circulating 25(OHD levels were measured in plasma samples (95% collected ≤6 months post-diagnosis. Prevalence ORs and 95% CIs were derived from multinomial logistic regression models, adjusting for age, season, and other factors. RESULTS: About 23% and 48% of women were vitamin D deficient (<30 nmol/L or insufficient (30-50 nmol/L, respectively. Tumor characteristics were not associated with vitamin D status. Higher BMI was associated with increased odds of vitamin D deficiency (ORs (95% CIs: 1 (reference, 1.12 (0.85,1.47, and 1.57 (1.02,2.42, for <23, 23-<27.5, and ≥27.5 kg/m(2, respectively, Ptrend <0.06. Total physical activity was associated with reduced odds of vitamin D deficiency (ORs (95% CIs:1 (reference, 0.84 (0.59,1.20, 0.65 (0.45,0.93, and 0.69 (0.48,1.00, for <7.65, 7.65-<10.6, 10.6-<13.5, ≥13.5 MET-hours/day, respectively, Ptrend <0.02. Smoking was associated with vitamin D insufficiency and deficiency (ORs (95% CIs: 2.50 (1.07,5.84 and 2.78 (1.11,6.95, respectively. CONCLUSIONS: In the largest study to date, the prevalence of low vitamin D status was high among Chinese breast cancer patients and associated with higher BMI, smoking, and lower physical activity. Our findings support careful monitoring of vitamin D status and recommendations for supplementation and other lifestyle modifications that may improve vitamin D status

  16. Clinical utility and patient consideration in the use of lenalidomide for multiple myeloma in Chinese patients

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    Wang J

    2015-06-01

    Full Text Available Jing Wang, Hongfeng Guo, Xin Zhou Department of Hematology, Wuxi People’s Hospital, Nanjing Medical University, Wuxi, People’s Republic of China Abstract: Multiple myeloma (MM is an incurable hematologic malignancy caused by the autonomous growth of malignant plasma cells. In the last decade, the introduction of novel targeted agents such as thalidomide, bortezomib, and lenalidomide has dramatically improved the clinical outcome of MM patients in both the frontline and recurrent settings. Lenalidomide is a synthetic derivative of thalidomide, which has been shown to significantly improve overall survival, time to progression, and overall response rates in patients with MM. The China Food and Drug Administration approved the use of lenalidomide in patients with MM in 2013. In a Phase II trial, lenalidomide plus low-dose dexamethasone was associated with a high response rate and acceptable safety profile in heavily pretreated Chinese patients with relapsed/refractory MM, including those with renal impairment and IgD subtype. However, lenalidomide will remain as a second-line antimyeloma drug in the near future because of its high price and the policy of health insurance reimbursement in People’s Republic of China. In this review, we summarize the clinical utility and patient considerations in the use of lenalidomide for MM in Chinese patients. Further studies with larger sample sizes are required to investigate the better quality, longer duration, and more clinically meaningful outcomes of lenalidomide in the treatment of MM in Chinese patients. Keywords: lenalidomide, multiple myeloma, clinical efficacy, Chinese patients

  17. Germline RECQL mutations in high risk Chinese breast cancer patients.

    Science.gov (United States)

    Kwong, Ava; Shin, Vivian Y; Cheuk, Isabella W Y; Chen, Jiawei; Au, Chun H; Ho, Dona N; Chan, Tsun L; Ma, Edmond S K; Akbari, Mohammad R; Narod, Steven A

    2016-06-01

    Recently, RECQL was reported as a new breast cancer susceptibility gene. RECQL belongs to the RECQ DNA helicase family which unwinds double strand DNA and involved in the DNA replication stress response, telomere maintenance and DNA repair. RECQL deficient mice cells are prone to spontaneous chromosomal instability and aneuploidy, suggesting a tumor-suppressive role of RECQL in cancer. In this study, RECQL gene mutation screening was performed on 1110 breast cancer patients who were negative for BRCA1, BRCA2, TP53 and PTEN gene mutations and recruited from March 2007 to June 2015 in the Hong Kong Hereditary and High Risk Breast Cancer Program. Four different RECQL pathogenic mutations were identified in six of the 1110 (0.54 %) tested breast cancer patients. The identified mutations include one frame-shift deletion (c.974_977delAAGA), two splicing site mutations (c.394+1G>A, c.867+1G>T) and one nonsense mutation (c.796C>T, p.Gln266Ter). Two of the mutations (c.867+1G>T and p.Gln266Ter) were seen in more than one patients. This study provides the basis for existing of pathogenic RECQL mutations in Southern Chinese breast cancer patients. The significance of rare variants in RECQL gene in the estimation of breast cancer risk warranted further investigation in larger cohort of patients and in other ethnic groups. PMID:27125668

  18. Clinical features of primary cicatricial alopecia in Chinese patients

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    Shiling Qi

    2014-01-01

    Full Text Available Background: There have been few reports on primary cicatricial alopecias (PCR especially from Asia (PCA. Aims: To study the clinical, pathological and dermoscopic characteristics of PCA among Chinese patients. Methods: A retrospective analysis of the clinical data of 59 patients with PCA was conducted and the dermoscopic, pathological, treatment and prognosis characteristics analyzed. Fisher′s Chi-square exact test, Kruskal-Wallis and Spearman rank correlation test were performed. Results: The ratio of neutrophilic to lymphocytic cicatricial alopecias was about 1.3:1 in this group. The most frequent disorder was folliculitis decalvans. Follicular openings were absent on dermoscopy in all cases except alopecia mucinosa. Patulous follicular openings were characterisitc of alopecia mucinosa. After treatment, an increase in short vellus hairs was the earliest feature, while telangiectasia, epidermal scale, follicular hyperkeratosis, pustules and hair diameter diversity gradually decreased or even disappeared. Improvement in the areas of hair loss after treatment was seen more often in discoid lupus erythematosus, folliculitis decalvans and dissecting cellulitis than in patients with classic pseudopelade of Brocq. Nine patients (13.6% relapsed after cessation of therapy. Female patients needed longer treatment times. Long duration, large areas of hair loss and shorter treatment courses were the major factors in relapses. Conclusions: Dermatoscopy provides a rapid, practical and useful aid for the diagnosis of PCA and also to assess disease activity. Patulous follicular openings are a specific dermoscopic sign of alopecia mucinosa. Lichen planopilaris is less common in China than in the West.

  19. How to Tonify Asthma Patients with Chinese Drugs?

    Institute of Scientific and Technical Information of China (English)

    Tao Chunxiang; Duan Shumin

    2006-01-01

    @@ Asthma can be generally divided into the onset stage and the remission stage. At the onset stage, the symptoms should be under control. Patients with pulmonary infection should be treated with anti-infective drug. During this stage, the patient should not be tonified except those with general qi deficiency. For patients with general qi deficiency,they can be slightly nourished to strengthen the body resistance and eliminate pathogenic factors. At the remission stage, patient may have deficiency of the lung, spleen and kidney. Those who have deficiency of the lung and spleen have a mild illness while those with deficiency of the kidney have a severe illness.Therefore, at the remission stage, Chinese drugs can be used to strengthen the body resistance, improve the constitution and balance the internal organs, qi,blood, yin and yang so as to reduce further attacks of asthma. According to the degree of deficiency of the lung, spleen and kidney, syndrome differentiation can be carried out in an attempt to provide the patients with proper nourishing and invigorating food or drugs.

  20. 民国中西药学汇通代表作《汉药新觉》考略%Textual research on the Han yao xin jue (New Recognition of Chinese Medicines), a representative book of amalgamation of Chinese and western pharmacy in the Republican period

    Institute of Scientific and Technical Information of China (English)

    陈仁寿

    2013-01-01

    郭若定《汉药新觉》为民国时期中西药学汇通的代表作,其上集曾被民国时期北平杂志《明日医药》连载,并刊有单行本.续集内容由其家属收藏,全书完整本于2010年由上海科学技术文献出版社出版,载药208种,以单味中药为主,并收部分复方药及西药.该书中西药学汇通思想,体现在3个方面:中西药物,兼收并蓄;衷中参西,继承创新;中西合参,旨在汇通.%Guo Ruo-ding's Han yao xin jue (New Recognition of Chinese Medicines) was the representative work of amalgamating Chinese and western pharmacy of the Republican period.Its first volume was published in Medicine Tomorrow in Peiping in installments,also with offprints; while the second volume was collected by his relatives.The whole book was published by the Shanghai Press of Science and Technology,carrying 208 kinds of Chinese materia medica mainly with individual drug descriptions,some compound prescriptions,and some western medicines.The amalgamating idea was expressed in three points:collection of both Chinese and western drugs; inheritance and creation with new idea of amalgamating Chinese and western medical systems; mutual consultation of Chinese and western medicine aiming at their amalgamation.

  1. 历史民族志视野下的中国汉族宗族研究反思%Reflection on the Study of Chinese Han Clans f rom the Perspective of Historical Ethnography

    Institute of Scientific and Technical Information of China (English)

    陈兴贵

    2016-01-01

    Historical ethnography is the product of anthropology and history .From the perspec‐tive of historical ethnography ,history and reality are not definitely contrary ,but are correlated with each other .Any event or phenomenon has its ow n specific historical origin ,long process of develop‐ment and complicated structure .History ,process ,structure and function work together to establish diverse human‐society picture .Conducting a study on Chinese Han clans from the perspective of his‐torical ethnography ,we should first reflect on the limitation of the functionalism research paradigm represented by Freedman ,paying attention to the historical process of the clans .Secondly ,we should get out of the village’s static analysis model for the clans ,to analyze the clans’ construction process and the cultural background of construction ,and the social significance when it was produced .Finally , the study on Chinese Han clans is not only about its own research on clans ,but contains multiple his‐torical narratives .%历史民族志是人类学与历史学互动交融的产物。在历史民族志看来,历史与现实并非决然对立,而是相互关联,密切互动。任何一个事件或现象均具有特定的历史渊源、漫长的发展过程、复杂的结构及功能。历史、过程、结构、功能等相互交织,共同构建了多样化的人类社会图景。历史民族志视野下的中国汉族宗族研究,首先要反思以弗里德曼为代表的功能主义研究范式的局限性,关注宗族的历史过程。其次,要走出宗族乡村的静态分析模式,在历史发展的进程中分析宗族的建构过程及其被建构的文化背景和建构后所产生的社会意义。最后,中国汉族宗族的研究并不只是宗族本身的研究,而是包含着多重的历史叙事。

  2. Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics

    Directory of Open Access Journals (Sweden)

    Zhou Jianjin

    2011-01-01

    Full Text Available Abstract Background Aminoglycoside ototoxicity is one of the common health problems. Mitochondrial 12S rRNA mutations are one of the important causes of aminoglycoside ototoxicity. However, the incidences of 12S rRNA mutations associated with aminoglycoside ototoxicity are less known. Methods A total of 440 Chinese pediatric hearing-impaired subjects were recruited from two otology clinics in the Ningbo and Wenzhou cities of Zhejiang Province, China. These subjects underwent clinical, genetic evaluation and molecular analysis of mitochondrial 12S rRNA. Resultant mtDNA variants were evaluated by structural and phylogenetic analysis. Results The study samples consisted of 227 males and 213 females. The age of all participants ranged from 1 years old to 18 years, with the median age of 9 years. Ninety-eight subjects (58 males and 40 females had a history of exposure to aminoglycosides, accounting for 22.3% cases of hearing loss in this cohort. Molecular analysis of 12S rRNA gene identified 41 (39 known and 2 novel variants. The incidences of the known deafness-associated 1555A > G, 1494C > T and 1095T > C mutations were 7.5%, 0.45% and 0.91% in this entire hearing-impaired subjects, respectively, and 21.4%, 2% and 2% among 98 subjects with aminoglycoside ototoxicity, respectively. The structural and phylogenetic evaluations showed that a novel 747A > G variant and known 839A > G, 1027A > G, 1310C > T and 1413T > C variants conferred increased sensitivity to aminoglycosides or nonsyndromic deafness as they were absent in 449 Chinese controls and localized at highly conserved nucleotides of this rRNA. However, other variants were polymorphisms. Of 44 subjects carrying one of definite or putative deafness-related 12S rRNA variants, only one subject carrying the 1413T > C variant harbored the 235DelC/299DelAT mutations in the GJB2 gene, while none of mutations in GJB2 gene was detected in other 43 subjects. Conclusions Mutations in mitochondrial 12S r

  3. Population Pharmacokinetics of Rifampicin in Chinese Patients With Pulmonary Tuberculosis.

    Science.gov (United States)

    Jing, Ying; Zhu, Li Qin; Yang, Jian Wei; Huang, Shu Ping; Wang, Qian; Zhang, Jie

    2016-05-01

    Rifampicin (RIF) induces cytochrome P450, which in turn catalyzes drug metabolism; however, pharmacokinetic studies on this phenomenon in the Chinese population, especially in the context of disease, are limited. Therefore, we sought to establish population-based pharmacokinetic models of RIF in a Chinese population with pulmonary tuberculosis (TB). Clinical data were retrospectively collected from 54 patients with pulmonary TB and analyzed alongside RIF blood levels from 95 samples collected prior to RIF administration and between 2 and 12 hours after treatment. HPLC was used to measure serum RIF concentrations. A nonlinear mixed model used to characterize RIF pharmacokinetics and the data generated from the present study were validated using a bootstrap method. Covariates, including demographics, as well as hematological and biological indicators were analyzed. We observed a 1-compartment model with first-order absorption. Typical population values of apparent clearance (CL/F) and apparent volume of distribution (VD /F) were 4.02 L/h and 57.8 L, respectively. No covariate significantly changed the parameters of CL/F and VD . The present study may serve as a foundation for individualized therapy and offer a basis for pharmacokinetic-pharmacodynamic (PK-PD) analysis. PMID:26387492

  4. Rs4948496 within ARID5B gene is associated with clinical features of systemic lupus erythematosus in the Chinese Han population.

    Science.gov (United States)

    Jiang, Long; Wu, Jianping; Li, Weiran; Du, Juan; Wang, Wenjun; Zhu, Zhengwei; Gao, Jinping; Sheng, Yujun; Yin, Xianyong; Zheng, Xiaodong; Li, Hui; Li, Yang; Meng, Li; Fan, Xing; Liu, Shengxiu; Zeng, Ming; Wang, Zaixing; Cui, Yong; Tang, Huayang; Sun, Liangdan; Yang, Sen; Zhang, Xuejun

    2015-06-01

    In our previous meta-analysis of genome-wide association study, we identified the single nucleotide polymorphism (SNP) rs4948496 (P = 5.1 × 10(-11) , odds ratio [OR] = 0.85) within the ARID5B gene associated with systemic lupus erythematosus (SLE) in a Chinese population. To investigate its association with disease subphenotypes, we further analyzed the genotype data of rs4948496 in 4348 cases and 6679 controls from our previous meta-analysis and an independent replication cohort in this study. The SNP rs4948496 was significantly associated with SLE (P = 1.61 × 10(-5) , OR = 0.88, 95% confidence interval [CI] = 0.83-0.93) in our group. In case-only study, the genotype of rs4948496 was associated with antinuclear antibodies (P = 0.03, OR = 0.81, 95% CI = 0.68-0.98) and anti-RNP (P = 0.03, OR = 0.86, 95% CI = 0.76-0.99). This study showed that rs4948496 in ARID5B is associated with several subphenotypes of SLE and this gene may cause the complicacy of clinical features. PMID:25808444

  5. Bioimpedance Spectroscopy for the Detection of Fluid Overload in Chinese Peritoneal Dialysis Patients

    OpenAIRE

    Kwan, Bonnie Ching-Ha; Szeto, Cheuk-Chun; Chow, Kai-Ming; Law, Man-Ching; Cheng, Mei Shan; Leung, Chi-Bon; Pang, Wing-Fai; Kwong, Vickie Wai-Ki; Li, Philip Kam-tao

    2014-01-01

    ♦ Background: Fluid overload probably contributes to the cardiovascular risk of peritoneal dialysis (PD) patients. We studied the relationship between over-hydration as determined by bioimpedance spectroscopy and dialysis adequacy, nutritional status, and arterial stiffness in Chinese PD patients.

  6. A potential interaction between COMT and MTHFR genetic variants in Han Chinese patients with bipolar II disorder

    OpenAIRE

    Wang, Liang-Jen; Lee, Sheng-Yu; Chen, Shiou-Lan; Chang, Yun-Hsuan; Chen, Po See; Huang, San-Yuan; Tzeng, Nian-Sheng; Chen, Kao Chin; Lee, I Hui; Wang, Tzu-Yun; Yang, Yen Kuang; Lu, Ru-Band

    2015-01-01

    Bipolar II disorder (BP-II), characterized by recurrent dysregulation of mood, is a serious and chronic psychiatric illness. However, BP-II is commonly under-recognized, even in psychiatric settings. Because dopaminergic disturbance is thought to be involved in the development of bipolar disorder (BPD), it seems essential to investigate dopamine-related genes like the catechol-O-methyltransferase (COMT) gene, which are involved in dopamine metabolism, and the methylenetetrahydrofolate reducta...

  7. Validity of Asthma Control Test in Chinese patients

    Institute of Scientific and Technical Information of China (English)

    ZHOU Xin; LI Jing; WANG Chang-zheng; DING Feng-ming; LIN Jiang-tao; YIN Kai-sheng; CHEN Ping; HE Quan-ying; SHEN Hua-hao; WAN Huan-ying; LIU Chun-tao

    2007-01-01

    Background So far, in China, there has been no effective or easy procedure to define the control of asthma. This study assesses the validity of Asthma Control Test in Chinese patients.Methods Three questionnaires (Asthma Control Test, Asthma Control Questionnaire and the 30 second asthma test)were administered to 305 asthma patients from 10 teaching hospitals across China. Spirometry was also used. Asthma specialists rated the control of asthma according to patients' symptoms, medications and forced expiratory volume in first second. The patients were divided into noncontrolled group and controlled group according to the specialists' rating.Reliability, empirical validity and screening accuracy were conducted for Asthma Control Test scores. Screening accuracy was compared among 3 questionnaires. The patients' self rating and the specialists' rating were also compared.Results The internal consistency reliability of the 5-item Asthma Control Test was 0.854. The correlation coefficient between Asthma Control Test and the specialists' rating was 0.729, which was higher than other instruments. Asthma Control Test scores discriminated between groups of patients differing in the percent predicted forced expiratory volume in first second (F=26.06, P<0.0001), the specialists' rating of asthma control (F=88.24, P<0.0001) and the Asthma Control Questionnaire scores (F=250.57, P<0.0001). Asthma Control Test showed no significant difference with Asthma Control Questionnaire in the percent correctly classified, while the percent correctly classified by Asthma Control Test was much higher than 30 second asthma test. The patients' self rating was the same as assessment of the specialists (t=0.65, P=0.516).Conclusion The Asthma Control Test is an effective and practicable method for assessing asthma control in China.

  8. A Survey of Mental Health of New Patients at Traditional Chinese Medical Clinic

    OpenAIRE

    Xiao Lu Wang; Ted Chun Tat Fong; Siu Man Ng

    2011-01-01

    In Chinese societies, traditional Chinese medical clinics are popular and play a significant role in primary healthcare. The current study aimed to examine the mental health of new patients at Chinese medical clinic. A cross-sectional questionnaire survey was conducted. Subjects were new patients of a Chinese medical clinic recruited through 100% consecutive sampling during a 5-week period. A response rate of 84.2% and a sample size of 367 were achieved. Sample included 111 (30.2%) men and 25...

  9. Mitochondrial tRNAMet mutation in Chinese Han essential hypertensive individuals%中国汉族原发性高血压患者线粒体tRNAMet基因突变

    Institute of Scientific and Technical Information of China (English)

    李宗斌; 刘昱圻; 李彦华; 陈瑞; 王琳; 朱庆磊; 李泱; 王士雯

    2011-01-01

    为探讨线粒体tRNAMet基因突变与中国汉族人原发性高血压发生发展之间的关系,文章收集990名原发性高血压患者一般资料(性别、年龄、发病年龄、体重指数、家族遗传史等)、血常规、血生化及心脏彩色超声检查结果;采集入选者的静脉血,分离并提取白细胞中的DNA,PCR扩增线粒体tRNAMet,纯化后测序.以发生tRNAMet突变的原发性高血压患者为指示病例,匹配8例未发生突变的原发性高血压患者为对照病例,统计分析指示病例和对照病例在血常规、血生化及心脏彩色超声检查等方面的异同.结果显示在990名原发性高血压患者中,有8名患者发生线粒体tRNAMet突变,突变分布在6个位点,分别为A4401G、C4410A、U4418C、A4435G、U4454C和C4456U.与对照病例相比,指示病例的平均发病时间显著提前,这种早发现象与体重指数无关.指示病例高密度脂蛋白胆固醇的平均值明显高于对照病例;血红蛋白平均值明显低于对照病例:舒张末期左室内径、每搏输出量、和心脏指数平均值等明显高于对照病例,射血分数平均值低于对照病例.在指示病例中,有5名患者有高血压母系遗传史,1名患者具有父系遗传史,2名患者否认有家族遗传史.以上研究结果提示线粒体tRNAMet突变可能会导致其结构和功能的变化,进而通过干扰血脂代谢、血细胞的稳态以及心脏的结构与功能,参与了原发性高血压的发生和发展.%The objective of the present study was to explore the relationship between mitochondrial tRNAMet mutation and development of essential hypertension in Chinese Han individuals.A total of 990 patients with essential hypertension were involved.The general data (sex, age, body mass index, onset age, and family history) and information on routine blood test,blood biochemical examination, and color Doppler echocardiography of these patients were collected.A11 subjects underwent

  10. Utilization of and Attitudes towards Traditional Chinese Medicine Therapies in a Chinese Cancer Hospital: A Survey of Patients and Physicians

    OpenAIRE

    McQuade, Jennifer L.; ZhiQiang Meng; Zhen Chen; Qi Wei; Ying Zhang; WenYing Bei; J. Lynn Palmer; Lorenzo Cohen

    2012-01-01

    Background. In China, the use of traditional Chinese medicine (TCM) is very popular, but little is known about how it is integrated with conventional cancer care. We conducted parallel surveys of patients and physicians on TCM utilization. Methods. Two hundred forty-five patients and 72 allopathic physicians at the Fudan University Shanghai Cancer Center completed questions on their use of and attitude towards TCM. Results. Patient mean age was 51, with 60% female. Eighty-three percent of pa...

  11. Genetic Variants in Human Leukocyte Antigen-DP Influence Both Hepatitis C Virus Persistence and Hepatitis C Virus F Protein Generation in the Chinese Han Population

    Directory of Open Access Journals (Sweden)

    Xiaodong Xu

    2014-06-01

    Full Text Available Chronic hepatitis C is a serious liver disease that often results in cirrhosis or hepatocellular carcinoma. The aim of this study was to assess the association of human leukocyte antigen-DP (HLA-DP variants with risk of chronic hepatitis C virus (HCV or anti-F antibody generation. We selected two single nucleotide polymorphisms (SNPs in a region including HLA-DPA1 (rs3077 and HLA-DPB1 (rs9277534 and genotyped SNPs in 702 cases and 342 healthy controls from the Chinese population using TaqMan SNP genotyping assay. Moreover, the exon 2 of the HLA-DPA1 and HLA-DPB1 genes were amplified and determined by sequencing-based typing (SBT. The results showed that rs3077 significantly increased the risk of chronic HCV infection in additive models and dominant models (odds ratio (OR = 1.32 and 1.53. The rs3077 also contributed to decrease the risk of anti-F antibody generation in additive models and dominant models (OR = 0.46 and 0.56. Subsequent analyses revealed the risk haplotypes (DPA1*0103-DPB1*0501 and DPA1*0103-DPB1*0201 and protective haplotypes (DPA1*0202-DPB1*0501 and DPA1*0202-DPB1*0202 to chronic HCV infection. Moreover, we also found that the haplotype of DPA1*0103-DPB1*0201 and DPA1*0202-DPB1*0202 were associated with the anti-F antibody generation. Our findings show that genetic variants in HLA-DP gene are associated with chronic HCV infection and anti-F antibody generation.

  12. Polymorphisms in C-Reactive Protein and Glypican-5 Are Associated with Lung Cancer Risk and Gartrokine-1 Influences Cisplatin-Based Chemotherapy Response in a Chinese Han Population

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    Shuo Zhang

    2015-01-01

    Full Text Available The role of genetics in progression of cancer is an established fact, and susceptibility risk and difference in outcome to chemotherapy may be caused by the variation in low-penetrance alleles of risk genes. We selected seven genes (CRP, GPC5, ACTA2, AGPHD1, SEC14L5, RBMS3, and GKN1 that previously reported link to lung cancer (LC and genotyped single nucleotide polymorphisms (SNPs of these genes in a case-control study. A protective allele “C” was found in rs2808630 of the C-reactive protein (CRP. Model association analysis found genotypes “T/C” and “C/C” in the dominant model and genotype “T/C” in the overdominant model of rs2808630 associated with reduced LC risk. Gender-specific analysis in each model showed that genotypes “T/T” and “C/C” in rs2352028 of the Glypican 5 (GPC5 were associated with increased LC risk in males. Logistic regression analysis showed “C/T” genotype carriers of rs4254535 in the Gastrokine 1 (GKN1 had less likelihood to have chemotherapy response. Our results suggest a potential association between CRP and GPC5 variants with LC risk; variation in GKN1 is associated with chemotherapy response in the Chinese Han population.

  13. Neuropsychological investigation in Chinese patients with progressive muscular atrophy.

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    Bo Cui

    Full Text Available Progressive muscular atrophy (PMA is a rare type of degenerative motor neuron disease (MND of which the onset happens in adult period. Despite its well-defined clinical characteristics, its neuropsychological profile has remained poorly understood, considering the consensus of cognitive and behavioral impairment reached in amyotrophic lateral sclerosis (ALS.We conducted a cross-sectional evaluation of Chinese PMA patients with a series of comprehensive batteries emphasizing the executive and attention function, and covering other domains of memory, language, visuospatial function, calculation and behavior as well. Their performances were compared with those of age- and education-matched ALS and healthy controls (HC.21 patients newly diagnosed with PMA were consecutively enrolled into our ALS and other MND registry platform, accounting for 14.7% of all the incident MND cases registered during the same period. 20 patients who completed the neuropsychological batteries were included into analysis. Compared with HC, PMA performed significantly worse in maintenance function of attention, while they exhibited quantitative similarity to ALS in all behavioral inventories and neuropsychological tests except the time for Stroop interference effect.PMA could display mild cognitive dysfunction in the same frontal-mediated territory of ALS but in a lesser degree, whereas they did not differ from ALS behaviorally.

  14. Reliability assessment and correlation analysis of evaluating orthodontic treatment outcome in Chinese patients

    OpenAIRE

    Song, Guang-Ying; Zhao, Zhi-He; Ding, Yin; Bai, Yu-Xing; Lin WANG; He, Hong; Shen, Gang; Li, Wei-Ran; Baumrind, Sheldon; Geng, Zhi; XU, TIAN-MIN

    2013-01-01

    This study aimed to assess the reliability of experienced Chinese orthodontists in evaluating treatment outcome and to determine the correlations between three diagnostic information sources. Sixty-nine experienced Chinese orthodontic specialists each evaluated the outcome of orthodontic treatment of 108 Chinese patients. Three different information sources: study casts (SC), lateral cephalometric X-ray images (LX) and facial photographs (PH) were generated at the end of treatment for 108 pat...

  15. Family functioning, marital quality and social support in Chinese patients with epilepsy

    OpenAIRE

    Wang, Yi-he; Haslam, Michelle; Yu, Ming; Ding, Juan; Lu, Qian; Pan, Fang

    2015-01-01

    Background The purpose of this study was to examine family functioning, marital quality, social support, and anxiety and depression in Chinese patients with Epilepsy (PWE) in comparison with healthy people. Methods This case–control study included 42 PWE and 42 healthy controls. Participants completed the Zung’s self-rating depression scale, the Zung’s self-rating anxiety scale, the Chinese version of family cohesion and flexibility evaluation scales, the Chinese version of the marital invent...

  16. An association analysis between mitochondrial DNA content, G10398A polymorphism, HPV infection, and the prognosis of cervical cancer in the Chinese Han population.

    Science.gov (United States)

    Feng, Dali; Xu, Hui; Li, Xin; Wei, Yuehua; Jiang, Huangang; Xu, Hong; Luo, Aihua; Zhou, Fuxiang

    2016-04-01

    The aim was to analyze quantitative (mitochondrial DNA (mtDNA) content) and qualitative (G10398A polymorphism) mtDNA alterations as well as human papillomavirus (HPV) infection in cervical cancer prognosis. One hundred and twenty-two cases of formalin-fixed paraffin-embedded cervical carcinoma specimens were collected from the Yichang Tumor Hospital and Zhongnan Hospital of Wuhan University in the recent 10 years together with medical records. A quantitative real-time PCR (RT-PCR) was used to determine the copy number of the mitochondrial DNA and HPV expression levels. G10398A polymorphism was determined by PCR-RFLP assay. The overall survival of patients with higher mtDNA content was significantly reduced compared with lower mtDNA content patients (P = 0.029). But there was no difference of prognosis between the mtDNA 10398 A allele and G allele. However, the Kaplan-Meier survival curve illustrated a significantly reduced overall survival in the patients with 10398A plus high mtDNA copy number compared with the other groups (P cancer prognosis was observed, 10398A got increased mtDNA content compared with 10398G (P cancer prognosis. High mitochondrial DNA content plus 10398 A may be a marker of poor prognosis in cervical cancer. And mtDNA variation may potentially influence the predisposition to HPV infection and cervical carcinogenesis. PMID:26577855

  17. Aged-Related Changes in Body Composition and Association between Body Composition with Bone Mass Density by Body Mass Index in Chinese Han Men over 50-year-old.

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    Ying Jiang

    Full Text Available Aging, body composition, and body mass index (BMI are important factors in bone mineral density (BMD. Although several studies have investigated the various parameters and factors that differentially influence BMD, the results have been inconsistent. Thus, the primary goal of the present study was to further characterize the relationships of aging, body composition parameters, and BMI with BMD in Chinese Han males older than 50 years.The present study was a retrospective analysis of the body composition, BMI, and BMD of 358 Chinese male outpatients between 50 and 89 years of age that were recruited from our hospital between 2009 and 2011. Qualified subjects were stratified according to age and BMI as follows: 50-59 (n = 35, 60-69 (n = 123, 70-79 (n = 93, and 80-89 (n = 107 years of age and low weight (BMI: < 20 kg/m2; n = 21, medium weight (20 ≤ BMI < 24 kg/m2; n = 118, overweight (24 ≤ BMI < 28 kg/m2; n = 178, and obese (BMI ≥ 28 kg/m2; n = 41. Dual-energy X-ray absorptiometry (DEXA was used to assess bone mineral content (BMC, lean mass (LM, fat mass (FM, fat-free mass (FFM, lumbar spine (L1-L4 BMD, femoral neck BMD, and total hip BMD. Additionally, the FM index (FMI; FM/height2, LM index (LMI; LM/height2, FFM index (FFMI; [BMC+LM]/height2, percentage of BMC (%BMC; BMC/[BMC+FM+LM] × 100%, percentage of FM (%FM; FM/[BMC+FM+LM] × 100%, and percentage of LM (%LM; LM/(BMC+FM+LM × 100% were calculated. Osteopenia or osteoporosis was identified using the criteria and T-score of the World Health Organization.Although there were no significant differences in BMI among the age groups, there was a significant decline in height and weight according to age (p < 0.0001 and p = 0.0002, respectively. The LMI and FFMI also declined with age (both p < 0.0001 whereas the FMI exhibited a significant increase that peaked in the 80-89-years group (p = 0.0145. Although the absolute values of BMC and LM declined with age (p = 0.0031 and p < 0

  18. Use of Chinese medicine by cancer patients: a review of surveys

    Directory of Open Access Journals (Sweden)

    Smith Caroline A

    2011-06-01

    Full Text Available Abstract Chinese medicine has been used to treat a variety of cancer-related conditions. This study aims to examine the prevalence and patterns of Chinese medicine usage by cancer patients. We reviewed articles written in English and found only the Chinese medicine usage from the studies on complementary and alternative medicine (CAM. Seventy four (74 out of 81 articles reported rates of CAM usage ranging from 2.6 to 100%. Acupuncture was reported in 71 out of 81 studies. Other less commonly reported modalities included Qigong (n = 17, Chinese herbal medicine (n = 11, Taichi (n = 10, acupressure (n = 6, moxibustion (n = 2, Chinese dietary therapy (n = 1, Chinese massage (n = 1, cupping (n = 1 and other Chinese medicine modalities (n = 19. This review also found important limitations of the English language articles on CAM usage in cancer patients. Our results show that Chinese medicine, in particular Chinese herbal medicine, is commonly used by cancer patients. Further research is warranted to include studies not written in English.

  19. Association Between the Single Nucleotide Polymorphism and the Level of Aquaporin-4 Protein Expression in Han and Minority Chinese with Inflammatory Demyelinating Diseases of the Central Nervous System.

    Science.gov (United States)

    Chu, Lan; Dai, Qingqing; Xu, Zhu; He, Dian; Wang, Hao; Wang, Qingsong; Zhang, Yifan; Zhu, Yingwu; Li, Yuan; Cai, Gang; Slavica, Krantic; Allan, Kermode

    2016-07-01

    The purpose of this study was to determine whether or not aquaporin-4 (AQP4) gene mutations are related to the pathogenesis of inflammatory demyelinating diseases in the central nervous system. Polymorphisms of AQP4 exons 1-5 were determined by sequencing DNA from 67 patients with central nervous system inflammatory demyelinating diseases, including neuromyelitis optica (NMO), multiple sclerosis, recurrent or simultaneous bilateral optic neuritis, and longitudinally extensive transverse myelitis. A plasmid with the identified new missense mutation was constructed, and human embryonic kidney cells (HEK293A) were transfected with either the pEGFP-N1-AQP4-M23 vector (bearing the identified mutated cDNA sequence) or with the plasmid bearing the wild-type AQP4 gene sequence. AQP4 protein expression was analyzed in both experimental groups using Western Blot analysis following protein extraction from transfected cells. A synonymous mutation (rs1839318) was detected on exon 3, and an additional synonymous mutation was detected on the exon 2-2 (rs72557968). Most importantly, a new missense mutation was detected on exon 2-1. According to Western blot analysis, the mutated cDNA sequence yielded increased AQP4 protein expression in comparison with the wild-type cDNA sequence (P < 0.05). AQP4 gene mutations are uncommon, occurring in only 3 out of 67 patients. Although it is possible that the mutations contributed to an increased risk of inflammatory central nervous system disease in these individuals, it is unlikely that mutations are a significant contributor to most patients with NMO spectrum disorders in China. PMID:25895050

  20. Utilization of and Attitudes towards Traditional Chinese Medicine Therapies in a Chinese Cancer Hospital: A Survey of Patients and Physicians

    Directory of Open Access Journals (Sweden)

    Jennifer L. McQuade

    2012-01-01

    Full Text Available Background. In China, the use of traditional Chinese medicine (TCM is very popular, but little is known about how it is integrated with conventional cancer care. We conducted parallel surveys of patients and physicians on TCM utilization. Methods. Two hundred forty-five patients and 72 allopathic physicians at the Fudan University Shanghai Cancer Center completed questions on their use of and attitude towards TCM. Results. Patient mean age was 51, with 60% female. Eighty-three percent of patients had used TCM. Use was greatest for Chinese herbal medicine (CHM; 55.8%. Only 1.3% of patients used acupuncture and 6.8% Qi Gong or Tai Qi. Sixty-three percent of patients notified their oncologist about TCM use. The most common reason for use was to improve immune function. CHM was often used with a goal of treating cancer (66.4%, a use that 57% of physicians agreed with. Physicians were most concerned with interference with treatment, lack of evidence, and safety. Ninety percent of physicians have prescribed herbs and 87.5% have used TCM themselves. Conclusion. The use of TCM by Chinese cancer patients is exceptionally high, and physicians are generally well informed and supportive of patients’ use. Botanical agents are much more commonly used than acupuncture or movement-based therapies.

  1. Helicobacter pylori infection in Chinese patients with atrial fibrillation

    Directory of Open Access Journals (Sweden)

    Wang DZ

    2015-04-01

    Full Text Available De-Zhao Wang,1 Wei Chen,1 Song Yang,2 Jun Wang,3 Qun Li,1 Qiang Fu,2 Shi-Jing Li,3 Bu-Xing Chen1 1Department of Cardiology, Beijing Tiantan Hospital, Capital Medical University, 2Department of Ultrasonography, Beijing Tiantan Hospital, Capital Medical University, 3Department of Cardiology, Beijing Mentougou District Hospital, Beijing, People’s Republic of China Objective: To explore the relationship between Helicobacter pylori (Hp infection and atrial fibrillation (AF in Chinese patients.Methods: A total of 285 hospitalized patients with AF and 300 patients from Health Screening Center who matched age and sex with AF group were enrolled. AF patients were divided into two groups: the short-standing AF category (less than a year and the long-standing AF category (more than a year. All patients had laboratory testing of 13C urea breath test, high-sensitive C-reactive protein (hs-CRP and left atrial diameter (LAD. We analyzed the difference of these factors in all groups and explored the correlation between Hp infection and AF using logistic regression analysis.Results: Both AF groups had more hypertension, diabetes, and Hp infection than the control group. The Hp value and the hs-CRP level in patients with long-standing AF were higher than those in the short-standing AF and the control groups (for Hp value: P<0.001 for both and for hs-CRP level: P=0.003, 0.002, respectively. The LAD of patients in the long-standing AF group was significantly larger than those in the short-standing AF group and control group (P=0.001 and P<0.001, respectively. The values of Hp, hs-CRP, and LAD in the long-standing AF category were significantly higher than those in the short-standing AF category (all P<0.05. After controlling the potential confounders, Hp value ≥4‰, hs-CRP >5 mg/L, and LAD >36 mm were significantly related to long-standing AF.Conclusion: The values of Hp in patients with long-standing AF were significantly higher than those in short

  2. Polymorphisms of TLR7 and TLR8 associated with risk of asthma and asthma-related phenotypes in a southeastern Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    Qian Zhang; Fenhong Qian; Linfu Zhou; Guozhen Wei; Ying Wang; Zhibin Hu; Guangfu Jin; Jianling Bai; Kaisheng Yin

    2009-01-01

    Objective:To evaluate the effects of polymorphisms in TLR7 and TLR8(as potential candidate genes) on asthma risk and asthma-related phenotypes.Methods:We consecutively recruited 318 unrelated adult asthmatic patients and 352 healthy volunteers from the same area of southeast China.Genotyping of each selected SNP was performed using multiplex PCR in conjunction with tagged array single base extension technology.We conducted case-control and case-only association studies between the selected SNPs in TLR7 and TLR8 and asthma or asthma-related phenotypes.Results:The T allele of rs5935436 SNP in TLR7 was protective from developing asthma in males (adjusted ORs=0.126,95% CIs=0.016-0.995).The CT/TT genotype of rs5935436 was less frequent in female asthmatics with allergic rhinitis (adjusted ORs=0.18,95% CIs=0.04-0.90).The homozygote AA of rs3761623 and GG of rs3764880 were positively associated with lower FEV1% and asthma severity in female asthmatics.These results were confirmed by haplotype analysis.Conclusion:TLR7 and TLR8 polymorphisms may play an important role in the pathogenesis of asthma that is gender-dependent.This could be clinically useful,both for identifying patients at risk of asthma and for preventing its occurrence.

  3. Clinical features of progressive supranuclear palsy in 105 Chinese patients

    Institute of Scientific and Technical Information of China (English)

    Jing Hou; Ruibiao Guo; Tong Chen; Xiaohong Zhang; Weiping Wu; Zhenfu Wang

    2011-01-01

    OBJECTIVE: To thoroughly investigate clinical characteristics of progressive supranuclear palsy (PSP) in a Chinese population.METHODS: Computer-based online searches through China National Knowledge Infrastructure and Weipu Periodical Database were performed to collect case reports of PSP published between 1980 and 2009. Clinical characteristics were analyzed.RESULTS: A total of 58 studies comprising 105 patients (76 males and 29 females) were included. All cases were sporadic and free of family history. The mean age at onset was 60.6 ± 9.1 years, and the mean course from onset of symptoms to diagnosis was 3.4 ± 2.4 years. The male-to-female ratio was approximately 3: 1. Onset was characterized by akinetic-rigid features and accounted for 34.3% of all cases, followed by early postural instability (25.5%), pseudobulbar palsy (9.8%), cognitive impairment (9.8%), and vertical supranuclear ophthalmoplegia (7.8%). With disease progression, vertical supranuclear ophthalmoplegia was reported in 95.1% of cases, followed by akinetic-rigid features (83.3%), pseudobulbar palsy (82.4%), axial dystonia (75.5%), cognitive impairment (72.5%), and early postural instability (69.6%). A total of 70.5% of patients exhibited abnormal electroencephalograms, and 21.4% exhibited mild abnormalities in cerebrospinal fluid. Brain CT scanning results of 37 patients showed 37.8% with midbrain and concurrent cerebral hemisphere atrophy, and 5.4% and 24.3% with midbrain and cerebral hemisphere atrophy, respectively. Brain MRI scanning results of 55 patients revealed a total of 16.4% patients with midbrain atrophy, 23.6% with midbrain and concurrent cerebral hemisphere atrophy, 32.7% with cerebral hemisphere atrophy, and 11% with brainstem atrophy. The percentage of midbrain atrophy revealed by MRI was greater than by CT. All 11 patients subjected to Mini-Mental State Examination scored < 23. A total of 10 patients underwent brain electrophysiological examination, and 80% presented with

  4. Pharmacogenetics of response to simvastatin in Chinese patients with hyperlipidaemia

    Institute of Scientific and Technical Information of China (English)

    TOMLINSON B; MAK V W L; HU M; CHU T T W; TSUI T; LEE V W Y

    2008-01-01

    Objective To examine the relationship of single-nucleotide polymorphisms (SNPs) in candidate genes with the lipid responses to simvastatin. Methods Chinese patients were treated with simvastatin 40 mg daily for at least 6 weeks. 20 SNPs in 11 genes were genotyped. Results 95 patients age (mean±SD) 57.5±10.6 years completed the treatment. The Adiponectin 45 T > G polymorphism was significantly related to absolute reductions in total cholesterol (TC) and LDL-ehohsterol with a trend (P=0.053) for percentage reductions in TC(TT: TG: GG =-38.4% :-35.6% :-32.6%). Similar findings were seen with LDL-Receptor (LDLR) SNPs (2052T > C and 1866C > T) with absolute reductions in TC and LDL-cholesterol significantly associated. The Breast Cancer Resistance Protein (ABCG2) 421C > A polymorphism was related (P<0.05) to HDL-cholesterol response ( CC : CA : AA =+0.50% : - 5.73% : -11.41% ). Conclusions Adiponeetin, LDLR and ABCG2 SNPs had some influence on the lipid responses to simvastatin.

  5. A Functional Polymorphism (rs937283) in the MDM2 Promoter Region is Associated with Poor Prognosis of Retinoblastoma in Chinese Han Population.

    Science.gov (United States)

    Jiao, Yongfa; Jiang, Zhongming; Wu, Yuxia; Chen, Xiaochong; Xiao, Xing; Yu, Haiying

    2016-01-01

    The effect of single nucleotide polymorphisms (SNPs) at MDM2 has been investigated in several cancer types. Three MDM2 SNPs(rs937283, rs2270744 and rs769412) have previously been suggested to be positively correlated with cancer. In this study, we aimed to explore the association of rs937283, rs2270744 and rs769412 polymorphisms with retinoblastoma (RB) risk, clinicopathological characteristics, and prognosis. Compared with wild-type genotype AA at rs937283, individuals carrying AG and GG genotype had a significantly increased risk for developing RB (OR = 1.86, 95% CI 1.13-3.08; OR = 2.48, 95% CI 1.10-5.62, respectively). RB patients with allele G at rs937283 were more susceptible to invasion and high tumor aggression (OR = 2.42, 95% CI 1.43-4.11; OR = 2.15, 95% CI 1.27-3.64, respectively). Kaplan-Meier curves and log-rank results revealed that RB patients harboring genotype GG and G allele at rs937283 had worse survival (P < 0.02 and P < 0.01, respectively). In addition, the A to G substitution at rs937283 significantly enhanced the transcription activity of the MDM2 gene in vitro. In vivo, we found that MDM2 mRNA and protein were overexpressed in individuals who carried the G allele at rs937283. This study suggested that the MDM2 rs937283 polymorphism is a novel functional SNP both in vitro and in vivo as well as a biomarker for poor prognosis in RB. PMID:27506496

  6. Effect of mitochondrial tRNAGln mutation on development of essential hypertension in Chinese Han individuals%线粒体tRNAGln对中国汉族人原发性高血压发病的影响

    Institute of Scientific and Technical Information of China (English)

    李宗斌; 刘昱圻; 李彦华; 朱梅; 王琳; 李泱; 朱庆磊; 王士雯

    2011-01-01

    Objective To observe the relationship between the mitochondrial tRNA mutation and the essential hypertension by examining the mutation of tRNAGln in Chinese Han individuals, and to explored the genetic signs and clinical characteristics of maternally inherited essential hypertension. Methods We collected the data of all subjects, including general information, routine blood test, blood biochemical examination and color Doppler echocardiography. The white blood cells were isolated and DNA extraction were performed. The target gene fragment was amplified using the special primers. The polymerase chain reaction products were purified and sequenced. The sequencing results were compared against databases of known sequences using Basic Local Alignment Search Tool (BLAST). We also carried out a 1:1 case-control study to compare the collected data of the essential hypertensive subjects who carried tRNAGln mutation and those who did not carry the mutation. Results The analysis of mitochondrial DNA mutation were performed in 990 essential hypertensive subjects, and we found a total of 8 mutation sites in 33 subjects. The most frequent mutation was A4386G, which was observed in 16 subjects. The onset age of essential hypertension was earlier in individuals carrying the tRNAGln mutation than those who did not bear the tRNAGln mutation, but which was not associated with the change of body mass index. The tRNAGln mutation significantly affected the results of blood biochemical examination, routine blood test, and heart structure and function, also in a tRNAGln mutation-dependent manner. Most essential hypertensive patients carrying tRNAGln mutation had maternally inherited history, which fulfilled the feature of mitochondrial hereditary. Conclusion Part of the essential hypertension patients clinically present with the characteristics of maternal inheritance, which might be associated with the tRNAGln mutation. tRNAGln mutation might result in the change of mitochondrial

  7. A functional variant at miR-34a binding site in toll-like receptor 4 gene alters susceptibility to hepatocellular carcinoma in a Chinese Han population.

    Science.gov (United States)

    Jiang, Zi-Cheng; Tang, Xian-Mei; Zhao, Ying-Ren; Zheng, Lei

    2014-12-01

    Toll-like receptor 4 (TLR4) plays a key role in prompting the innate or immediate response. A growing body of evidence suggests that genetic variants of TLR4 gene were associated with the development of cancers. This study aimed to investigate the relationship of a functional variant (rs1057317) at microRNA-34a (miR-34a) binding site in toll-like receptor 4 gene and the risk of hepatocellular carcinoma. A single center-based case-control study was conducted. In this study, the polymerase chain reaction (PCR) and direct sequencing were used to genotype sequence variants of TLR4 in 426 hepatocellular carcinoma cases and 438 controls. The modification of rs1057317 on the binding of hsa-miR-34a to TLR4 messenger RNA (mRNA) was measured by luciferase activity assay. Individuals carrying the AA genotypes for the rs1057317 were associated significantly with increased risk of hepatocellular carcinoma comparing with those carrying wild-type homozygous CC genotypes (adjusted odds ratio [OR] by sex and age, from 1.116 to 2.452, P = 0.013). The activity of the reporter vector was lower in the reporter vector carrying C allele than the reporter vector carrying A allele. Furthermore, the expression of TLR4 was detected in the peripheral blood mononucleated cell of hepatocellular carcinoma (HCC) patients, suggesting that mRNA and protein levels of TLR4 might be associated with SNP rs1057317. Collectively, these results suggested that the risk of hepatocellular carcinoma was associated with a functional variant at miR-34a binding site in toll-like receptor 4 gene. miR-34a/TLR4 axis may play an important role in the development of hepatocellular carcinoma. PMID:25179842

  8. Spillover of Chinese Lacquer Culture along the Silk Road in Han and Tang Dynasties:Opportunities, Pathways and Effects%汉唐丝路漆器文化外溢:契机、途径与效应

    Institute of Scientific and Technical Information of China (English)

    胡玉康

    2016-01-01

    在全球范围内,汉唐漆器文化外溢既是文化输出、传播与互动的形式,又是与诸番文化对话、交融与增益的手段,它具有中华文化外溢的示范意义与独特内涵。丝路、港口及通商为汉唐漆器文化外溢提供契机,贸易、宗教、遣使及朝贡是汉唐漆器文化外溢的主要途径。尽管漆器作为汉唐文化对诸番文化的提升效应是强势的,但汉唐人容纳万有的文化气概与兼容并包的宇宙胸怀必然使得他们在接纳异域文化中实现了双向互动,进而提升与改造了自我文化。文章在阐释中发现,当输出国拥有传统文化优势时,被输入的海外文化对输出国能产生更有益的文化影响。如果输入国与输出国文化是互补或互通有无的,潜在的文化外溢效应必将更容易地被广泛摄取。%In a global context, the spillover of lacquer culture in the Han and Tang Dynasties is a form of cultural export, diffusion and interaction, and a way of mutually beneficial dialogue and integration with foreign cultures as well. It is exemplary of Chinese culture spillover and has its unique content. The Silk Road, ports, and trade provided opportunities for the spillover of the lacquer culture in Han and Tang Dynasties, while trade, religion, envoy-dispatching and tribute missions served as the principal ways of cultural export. Although the lacquer culture was strong for its positive effects upon foreign cultures, the people of Han and Tang Dynasties of inclusive cultural mentality and global perspective certainly achieved bidirectional interaction as they accepted foreign cultures and so improved and reformed their own culture. During the analysis, the author finds out the imported foreign cultures usually have positive impact upon the exporter when the latter has advantages in traditional culture. If the cultures of the exporter and importer are complementary, the potential cultural spillover effects are

  9. The Researches to Nationalization of Chinese Animation Composition:Taking Han Dynasty's Carving Bricks as an Example%试论汉画像砖与中国动画民族化创作

    Institute of Scientific and Technical Information of China (English)

    杜明星

    2016-01-01

    The Chinese portrait brick is a bright pearl in the history of our country. The ancient artistic, vivid sculpture and full composition and brilliant story make many people have captivated. At the same time, it should also become our formative arts inexhaustible treasure house, The traits we mentioned above should be elements in the creation of animation in China urgently needs to be injected. In the professional direction of the research of animation creation, domestic animation lack combine form with profound connotation of nation and gives the story its unique form of expression, which requires to make exploratory comparison from the modeling method of the Han Dynasty's carving bricks, through the art of the two ift to explore the way of nationality in Chinese animation composition.%汉画像砖是我国历史上一颗灿烂的明珠,其古朴的艺术手法、生动的造型、饱满的构图以及强烈的故事性,使得无数人为之倾倒。汉画像砖是造型艺术取之不尽的宝库,也是当前我国动画创作迫切需要注入的元素。在研究动画创作的专业方向上,国产动画所缺少的是寓形式以深刻民族内涵和赋予故事以独特的表现形式,这就要求从汉画像砖的造型方法、故事性等方面,与我国动画创作做出探索性的对比,通过二者的艺术的契合性,去探索我国动画创作本土化、民族化的出路。

  10. Mitochondrial COX2 G7598A Mutation May Have a Modifying Role in the Phenotypic Manifestation of Aminoglycoside Antibiotic-Induced Deafness Associated with 12S rRNA A1555G Mutation in a Han Chinese Pedigree

    Science.gov (United States)

    Chen, Tianbin; Liu, Qicai; Jiang, Ling; Liu, Can

    2013-01-01

    , in the AmAn-induced deafness and NSHL associated with 12S rRNA A1555G mutation in the Han Chinese pedigree. PMID:23256547

  11. Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a case–control and a family-based association study in a Chinese Han pulation

    Indian Academy of Sciences (India)

    YI ZENG; LE ZHANG; ZHIPING HU; QIDONG YANG; MINGMING MA; BAOQIONG LIU; JIAN XIA; HONGWEI XU; YUNHA I LIU; XIAOPING DU

    2016-06-01

    Protein Z (PZ) and factor (F) VII are two important factors in the clotting pathway which have similar structure, linkedfunction and nearby gene sites. The aims of this study were to investigate whether the common variants of PZ and FVII genesare associated with the risk of cerebral hemorrhage (CH) and to explore the combined effects of PZ and FVII polymorphismsfor CH risk. We performed genotyping analysis for two single-nucleotide polymorphisms (SNPs) of FVII (rs510317 andrs6046) and three SNPs of PZ (rs2273971, rs3024718 and rs3024731) both in a population-based case–control study andin a family-based association study. Case–control analysis found no evidence of significant association. But family-basedassociation study revealed that the G allele of PZ rs2273971, and three haplotypes carrying the ‘G’ allele of PZ rs2273971:haplotype GA, CG and CGA of PZ and FVII genes, all had a significant effect on CH susceptibility (Z =1.882,P =0.049;Z =1.922,P =0.044; Z =1.826,P =0.047; Z =1.977,P =0.048, respectively). While, the A allele of PZ rs2273971, andfour haplotypes carrying or crossing the ‘A’ allele of PZ rs2273971: haplotypes CA, ACAA, ACAT and ACAAT of PZ andFVII genes, may confer protection against CH (Z =−1.882,P =0.049; Z =−2.000,P =0.045; Z =−2.319,P =0.020;Z =−2.002,P =0.045; Z =−2.015,P =0.043, respectively). This is a first family-based association study providing geneticevidences that PZ and FVII genes, especially PZ rs2273971 are involved in the development of CH in Han-Chinese families.

  12. Quality of Life in Chinese Patients with Breast Cancer

    OpenAIRE

    Sun, Angela; Wong-Kim, Evaon; Stearman, Sarah; Chow, Edward A.

    2005-01-01

    Chinese are the largest Asian group in the U.S., constituting 23.8% of the nation’s total Asian-American population. Cancer is the leading cause of death for female Asian Americans, and breast cancer is the most frequently diagnosed cancer among females for all racial/ethic groups in San Francisco, which ranks 4th in the number of Asian Americans and where 152,620 Chinese account for 19.6% of the city’s total population. Previous observations among Chinese immigrant women suggested that a dia...

  13. Tacrolimus in preventing transplant rejection in Chinese patients – optimizing use

    Directory of Open Access Journals (Sweden)

    Li CJ

    2015-01-01

    Full Text Available Chuan-Jiang Li,1,* Liang Li2,* 1Department of Surgery, Nanfang Hospital, 2Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, People’s Republic of China *The authors contributed equally to this work Abstract: Tacrolimus is a product of fermentation of Streptomyces, and belongs to the family of calcineurin inhibitors. It is a widely used immunosuppressive drug for preventing solid-organ transplant rejection. Compared to cyclosporine, tacrolimus has greater immunosuppressive potency and a lower incidence of side effects. It has been accepted as first-line treatment after liver and kidney transplantation. Tacrolimus has specific features in Chinese transplant patients; its in vivo pharmacokinetics, treatment regimen, dose and administration, and adverse-effect profile are influenced by multiple factors, such as genetics and the spectrum of primary diseases in the Chinese population. We reviewed the clinical experience of tacrolimus use in Chinese liver- and kidney-transplant patients, including the pharmacology of tacrolimus, the immunosuppressive effects of tacrolimus versus cyclosporine, effects of different factors on tacrolimus metabolism on Chinese patients, personalized medicine, clinical safety profile, and patient satisfaction and adherence. This article provides guidance for the rational and efficient use of tacrolimus in Chinese organ-transplant patients. Keywords: tacrolimus, liver transplantation, kidney transplant, Chinese, personalized medicine

  14. Analysis on association between anti-gliadin IgA and anti-gliadin IgG antibodies and schizophrenia in Chinese Han population%人血浆抗谷胶蛋白 IgA和IgG 抗体与精神分裂症发病及临床表型的关联性分析

    Institute of Scientific and Technical Information of China (English)

    王嘉欣; 武宁; 杜伟利; 赵鑫丽; 赵晓霞; 惠李; 王珍琦; 张萱

    2014-01-01

    目的:检测中国北方汉族人群精神分裂症患者血浆中抗谷胶蛋白 IgA(anti-gliadin IgA)和抗谷胶蛋白IgG(anti-gliadin IgG)抗体水平,探讨人血浆抗谷胶蛋白 IgA和 IgG 抗体水平与中国北方汉族人群精神分裂症发病及临床表型的关系,阐明谷胶蛋白在精神分裂症发病中的作用。方法:收集428例中国北方汉族人群精神分裂症患者与555例健康对照者全血样品,分离血浆,采用 ELISA法检测血浆中抗谷胶蛋白 IgA和抗谷胶蛋白IgG 抗体水平。应用χ2检验比较精神分裂症组和健康对照组受试者血浆抗谷胶蛋白 IgA和 IgG 抗体阳性率,采用 Mann-Whitney U检验比较精神分裂症组和健康对照组受试者血浆抗谷胶蛋白 IgA和抗谷胶蛋白 IgG 抗体水平。结果:与健康对照组比较,精神分裂症组患者血浆抗谷胶蛋白 IgA 阳性率及 IgA 水平均明显升高(P<0.01),抗谷胶蛋白 IgG 阳性率及 IgG 水平差异无统计学意义(P>0.05)。携带关系妄想、读心症、被迫害妄想、嫉妒妄想、夸大妄想、思维连贯性障碍、思维逻辑性障碍、古怪行为、攻击性行为、幻觉-妄想综合征、思维贫乏、情感迟钝/淡漠和意志缺乏等临床表型的精神分裂症患者血浆中抗谷胶蛋白 IgA水平均显著高于健康对照者(P<0.05);携带读心症和夸大妄想等临床表型的精神分裂症患者血浆抗谷胶蛋白 IgG水平显著高于健康对照者(P<0.05)。结论:谷胶蛋白与中国北方汉族人群精神分裂症发病密切相关,血浆中的谷胶蛋白自身抗体在精神分裂症发病中可能发挥重要作用。%Objective To detect the levels of anti-gliadin IgA and anti-gliadin IgG antibodies in the plasma of the patients with schizophrenia, and to investigate the association between schizophrenia and anti-gliadin IgA, IgG bodies in a Chinese Han population, and to clarify the effect of

  15. Special issue: Hans Bethe

    CERN Multimedia

    Gottfried, Kurt

    2005-01-01

    "There are a handful of people who soar, whose accompalishments are so off-scale as to nearly defy belief. Hans Bethe (2 July 1906 - 6 March 2005) was of that caliber. As just one measure of his stature, imagine the task of copying his published opus by hand, for that is how he wrote most of it" (2 pages)

  16. Hans Christian Andersen

    DEFF Research Database (Denmark)

    Nørgaard, Jørgen

    2007-01-01

    The Danish author, Hans Christian Andersen, living in the 1800s expressed through his fairy tales and other stories an enthusiasm for the technological breakthroughs in that century with trains, etc. But he also showed great concern for what the natural science did to people by narrowing their mind...

  17. Differences in Platelet Indices between Healthy Han Population and Tibetans in China

    OpenAIRE

    Niu, Qian; Zhang, Ruke; Zhao, Min; Zeng, Sugen; Huang, Xunbei; Jiang, Hong; An, Youfang; Zhang, Luwen

    2013-01-01

    Introduction The present data on the evaluation of platelet (PLT) parameters in Chinese Han population and Tibetans are still limited. The objective of this study was to determine the differences in common PLT indices between Han population and Tibetans in China, through a large-scale investigation of healthy people. Methods 2131 Han people from Chengdu Plain, 1099 Tibetans from Qinghai-Tibet Plateau and 956 Plateau Han migrants were included in this study. All the subjects were healthy peopl...

  18. Paliperidone extended-release tablets in Chinese patients with schizophrenia: meta-analysis of randomized controlled trials

    OpenAIRE

    Cai, Shangli; Lu, Huafei; BAI, Zhihua; Wu, Renrong; Zhao, Jingping

    2015-01-01

    Background Previous meta-analyses have compared paliperidone extended-release (ER) tablets with other antipsychotics, but none have involved Chinese patients or studies from People’s Republic of China. Further, the results of these meta-analyses may not be applicable to Chinese patients. In the present study, we evaluated the efficacy, safety, and acceptability of paliperidone ER compared with other second-generation antipsychotics (SGAs) for Chinese patients with schizophrenia. Methods Rando...

  19. Porcelain in the Ming Dynasty:Cultural and Artistic Exchanges Between Hans and Tibetans

    Institute of Scientific and Technical Information of China (English)

    WuMingdi

    2004-01-01

    As an example of Chinese arts and crafts, porcelain is an important element of Chinese culture. In ancient times, when transport and communications were extremely backward, the continuous flow of porcelain items between Han Chinese and Tibetans played an essential role in their material and cultural life. Put specifically, the close relationship between porcelain and Han-Tibetan cultural and artistic exchanges can be observed as follows:

  20. "The medicine from China has rapid effects": Chinese medicine patients in Tanzania.

    Science.gov (United States)

    Hsu, Elisabeth

    2002-01-01

    Traditional Chinese Medicine (TCM) involves both biomedical and traditional medical training, which makes well-trained TCM doctors inexpensive health care providers for primary health care. The Tanzanian Ministry of Health and Ministry of Commerce recognised this potential, and in the mid-1990s issued short-term licences for private TCM enterprises. In Dar es Salaam, some of these practices experienced a period of considerable growth, but by the year 2000 a degree of ambivalence if not resentment existed against Chinese medical doctors who were accused of unlawfully using biomedical medication, and the government refused to issue further licences. In addition, some 'doctors' had insufficient training or minimal clinical experience (though I also met some notable exceptions). This article asks why Tanzanian patients turn to the Chinese for medical treatment, and what patients know about Chinese medicine and medication. One of the chief findings is that the Swahili term dawa ya Kichina is vague, which allows patients to transfer their positive experiences with Chinese biomedical doctors during the period of socialist orientation onto the current, entrepreneurial TCM doctors. Dawa ya Kichina is often considered a rapidly effective 'advanced' 'traditional' medicine; its ready-made patent formulas, which make it look 'scientific' and 'modern', are easy to consume; and its entrepreneurial set-up has several advantages over the bureaucratic structures of 'hospital medicine'. Chinese anti-malarials, artesiminin derivatives, reduce malarial fevers within hours, and though, strictly speaking, they are biomedical drugs, they are indeed dawa ya Kichina . Moreover, patients of TCM doctors sometimes experience rapid recovery, mostly due to skilled integration of biomedical and Chinese medical treatment. Further research is recommended to investigate the primary health care potential of such integrated Chinese and biomedical treatment. PMID:26869121

  1. On Professor HAN Bi-ying's Academic Experience

    Institute of Scientific and Technical Information of China (English)

    赵杰

    2006-01-01

    @@ Professor HAN Bi-ying is a chief doctor in the acupuncture department of Guang An Men Hospital of China Academy of Chinese Medical Science. She has been engaged in clinical practice for nearly 40 years and accumulated abundant clinical experience, especially in clinical syndrome differentiation. I am fortunate to follow professor HAN to practice acupuncture on weekends and learn from him. I now present her academic thoughts and clinical experience with proven cases for References.

  2. Tacrolimus in preventing transplant rejection in Chinese patients – optimizing use

    Science.gov (United States)

    Li, Chuan-Jiang; Li, Liang

    2015-01-01

    Tacrolimus is a product of fermentation of Streptomyces, and belongs to the family of calcineurin inhibitors. It is a widely used immunosuppressive drug for preventing solid-organ transplant rejection. Compared to cyclosporine, tacrolimus has greater immunosuppressive potency and a lower incidence of side effects. It has been accepted as first-line treatment after liver and kidney transplantation. Tacrolimus has specific features in Chinese transplant patients; its in vivo pharmacokinetics, treatment regimen, dose and administration, and adverse-effect profile are influenced by multiple factors, such as genetics and the spectrum of primary diseases in the Chinese population. We reviewed the clinical experience of tacrolimus use in Chinese liver- and kidney-transplant patients, including the pharmacology of tacrolimus, the immunosuppressive effects of tacrolimus versus cyclosporine, effects of different factors on tacrolimus metabolism on Chinese patients, personalized medicine, clinical safety profile, and patient satisfaction and adherence. This article provides guidance for the rational and efficient use of tacrolimus in Chinese organ-transplant patients. PMID:25609922

  3. Clopidogrel metabolism related gene polymorphisms in Chinese patients with acute coronary syndrome

    Institute of Scientific and Technical Information of China (English)

    冯广迅

    2013-01-01

    Objective To detect the single nucleotide polymorphisms of clopidogrel metabolism related genes(CYP2C19,ABCB1 and PON1) in Chinese patients with acute coronary syndrome(ACS) by genotype analysis. Methods Genetic analysis was performed in patients admitted to

  4. Hans Bethe's early life

    Science.gov (United States)

    Bernstein, Jeremy

    2012-10-01

    In 1937, two years after he moved to the US to escape Nazi persecution, the physicist Hans Bethe sent a letter to his mother in Germany. In it, he wrote, "I think I am about the leading theoretician in America. [Eugene] Wigner is certainly better and [Robert] Oppenheimer and [Edward] Teller probably just as good. But I do more and talk more and that counts too."

  5. 苯扎贝特在中国汉族和藏族健康人体内的药动学初探%Pharmacokinetics of bezafibrate in Chinese Han and Tibetan healthy volunteers

    Institute of Scientific and Technical Information of China (English)

    李忠亮; 张治然; 袭荣刚

    2012-01-01

    Objective To determine the pharmacokinetics of bezafibrate tablets after a single oral dose in Han and Tibetan healthy volunteers. Methods Ten healthy Han volunteers and 10 healthy Tibetan volunteers enrolled in the study. Each subject received a single dose of 400 mg bezafibrate tablets. The plasma concentration was determined by HPLC. The pharmacokinetic parameters were calculated by DAS and statistically analyzed by SPSS. Results The main pharmacokinetic parameters of Chinese Han were as follows: Cmax (11.33±3.02) μg · mL-1, tmax (1.96±0. 21) h, t1/2 (2.05±0.37) h, AUC0-12 (40. 54± 11. 25) μg · H · mL-1, and AUC0-∞ (46. 63 ±12. 42) μg · H · mL-1. The main pharmacokinetic parameters of Tibetan were as follows- C (11.17±3. 26) μg · mL-1, tmax(2. 05±0. 32) h, t1/2 (2.04±0.31) h, AUC0-12 (38.25±9.74) μg · H · mL-1, and AUC0-∞ (44. 52± 10. 35) vg · H · mL-1. Conclusion The plasma concentration-time curve of bezafibrate fits a two-compartment open model. Due to the small number of volunteers in the trial, further research is needed.%目的 研究汉族和藏族健康志愿者单剂量口服苯扎贝特片的药物动力学.方法 健康志愿者20名(其中汉族和藏族各10名,男女各半),单剂量口服笨扎贝特片400 mg,采用HPLC法测定血浆中苯扎贝特的含量.用DAS软件程序进行数据处理,用SPSS软件对不同性别药动学参数进行统计分析.结果 受试者单剂量口服400 mg苯扎贝特片后,汉族健康志愿者的主要药动学参数:Gmax为(11.33±3.02)μg·mL-1,tamx为(1.96±0.21)h,t1/2为(2.05±0.37)h,AUC0-12为(40.54±11.25)μg·h·mL-1;AUC0~∞为(46.63±12.42)μg·h·mL-1.藏族健康志愿者的主要药动学参数:Cmax为(11.17±3.26)μg·mL-1,tmax为(2.05±0.32)h,t1/2为(2.04±0.31)h,AUC0~12为(38.25±9.74)μg·h·mL-1; AUC0-∞为(44.52±10.35)μg·b·mL-1.结论 健康志愿者单剂量口服苯扎贝特片的体内药动学过程符合二室开放模型.由于样本数太少,

  6. Tribute to Hans Sann

    CERN Multimedia

    2003-01-01

    1945-2003 Hans Sann, an internationally recognized scientist, beloved colleague and friend, died in a tragic car accident, on May 27th, on one of his many travels to CERN. Employed at GSI, in Darmstadt, since 1979, Hans Sann devoted most of his scientific career to the development of large size gas detectors for nuclear and high-energy physics experiments at GSI, CERN and Berkeley. One of his main achievements, among many others, was the famous MUSIC detector, on which several projects at GSI, Berkeley and other research Institutes were based. The innovative results obtained in the study of the fluid-gas transition in nuclear matter would not have been possible without his contribution and the application of the MUSIC detector. A member of the ALICE Collaboration since 1996, Hans was leading two main ALICE sub-programmes, the development of the gas system and the cooling system for the TPC detector. In addition, he was involved in the development of a new technological concept for the resistor chain of the ...

  7. Psychometric Evaluation of the Chinese Version of the Patient Perceptions of Empowerment Scale (PPES

    Directory of Open Access Journals (Sweden)

    Mei-Yu Yeh

    2014-01-01

    Full Text Available Objectives. To evaluate the psychometric properties of the Chinese version of the Patient Perceptions of Empowerment Scale (PPES and to perform a cross-cultural validity assessment. Methods. In this cross-sectional survey, 554 inpatients in three general hospitals in northern Taiwan were recruited. Principal component analysis was used to examine the factor structure of the scale. Confirmatory factor analyses were conducted on the measurement model of the Chinese version of the PPES. Results. Confirmatory factor analyses supported the presence of a second-order four-factor model (information, decision, individual, and self-management of the Chinese version of the PPES when used with a Taiwanese inpatient population. The results indicate that the 11-item, second-order, four-factor Chinese version of the PPES provided best goodness-of-fit for the data in this study. Conclusion. The 11-item four-factor Chinese version of the PPES is a self-completion scale. This study demonstrated that the Chinese version of the PPES is a reliable and valid self-report instrument for the assessment of patient perceptions of empowerment in clinical practice. Further adaptation and evaluation of the scale will hopefully stimulate further studies on PPES in the fields of psychometrics in Taiwan.

  8. Association analysis of the tyrosine hydroxylase gene polymorphisms with early-onset schizophrenia in Chinese population

    Institute of Scientific and Technical Information of China (English)

    吕钦谕

    2014-01-01

    Objective To investigate the relationship between the tyrosine hydroxylase(TH)gene and early-onset schizophrenia in Chinese Han population.Methods To tag single nucleotide polymorphisms(tag SNPs)rs2070762,rs6356 and rs11042978 in the TH gene were genotyped in 315 early-onset schizophrenics(188 male patients,127 female patients)and 391 controls subjects

  9. A novel CFTR mutation found in a Chinese patient with cystic fibrosis

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Background Cystic fibrosis (CF) is rare in Chinese. We investigated the mutations in the gene of cystic fibrosis transmembrane conductance regulator (CFTR) in a Chinese CF patient and reviewed the clinical features, gene mutations in Chinese CF cases. Methods Blood samples were collected from a previously reported CF girl and her parents. The 24 coding exons of CFTR of the proband were amplified and sequenced. Results A Chinese girl of 16 years old was diagnosed as CF at the age of 14. She had recurrent productive cough with bronchiectasis in bilateral upper lobes, parasinusitis and otitis media, but without pancreatic involvement. Her sweat chloride was (108.9 ±3.3) mmol/L. A heterozygous novel missense mutation of 699 C→A which results in the amino acid change of N189K was identified in exon 5. In addition, a heterozygous 3821-3823 delT mutation in exon 19 was found in CFTR. The mutation 699C→A was inherited from her father, and the 3821-3823delT mutation was from her mother. Twenty patients with CF in Chinese reported from 1974 to 2004 were also reviewed. DelF508 mutation was not found in the nine cases whose CFTR mutations were analyzed. Conclusions The CF proband carries two heterozygous mutations (699C→A and 3821-3823delT) in CFTR. 699C→A mutation is a novel mutation which is not reported previously. Review of reported Chinese cases suggests that the genotype of Chinese CF may be different from those of white cases. More studies are needed to understand the spectra of CFTR and clinical CF features in Chinese.

  10. Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease.

    Science.gov (United States)

    Wu, Hongwei; Lu, Xingjiao; Xie, Fei; Cen, Zhidong; Zheng, Xiaosheng; Luo, Wei

    2016-08-26

    CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients. PMID:27353515

  11. Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy

    OpenAIRE

    Jianying Xi; Gaelle Blandin; Jiahong Lu; Sushan Luo; Wenhua Zhu; Christophe Beroud; Christophe Pecheux; Veronique Labelle; Nicolas Levy; Jon Andoni Urtizberea; Chongbo Zhao; Martin Krahn

    2014-01-01

    Background and Aims: Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational spectrum in the largest cohort of Chinese patients analyzed to date. Patients and Methods: A total of 36 unrelated Chinese patients with diagnostic suspicion of dysferlinopathy were clinically and genetically characterized. Results: Patients were divided into five phenotypes: 19 patients with limb gir...

  12. Detection of anti-aquaporin-4 autoantibodies in the sera of Chinese neuromyelitis optica patients

    Institute of Scientific and Technical Information of China (English)

    Miao Li; Weiheng Su; Jie Wang; Francesco Pisani; Antonio Frigeri; Tonghui Ma

    2013-01-01

    In this study, we recruited 10 neuromyelitis optica patients, two multiple sclerosis patients and two myelitis patients. Chinese hamster lung fibroblast (V79) cells transfected with a human aquaporin-4-mCherry fusion protein gene were used to detect anti-aquaporin-4 antibody in neuromyelitis optica patient sera by immunofluorescence. Anti-aquaporin-4 autoantibody was stably detected by immunofluorescence in neuromyelitis optica patient sera exclusively. The sensitivity of the assay for neuromyelitis optica was 90% and the specificity for neuromyelitis optica was 100%. The anti-aquaporin-4 antibody titers in sera were tested with serial dilutions until the signal disappeared. A positive correlation was detected between Expanded Disability Status Scale scores and serum anti-aquaporin-4 antibody titers. The anti-aquaporin-4 antibody assay is highly sensitive and specific in the sera of Chinese neuromyelitis optica patients. Detection of aquaporin-4 autoantibody is important for the diagnosis and treatment of neuromyelitis optica.

  13. The Hans Tausen drill

    DEFF Research Database (Denmark)

    Johnsen, Sigfus Johann; Dahl-Jensen, Dorthe; Steffensen, Jørgen Peder;

    2007-01-01

    In the mid-1990s, excellent results from the GRIP and GISP2 deep drilling projects in Greenland opened up funding for continued ice-coring efforts in Antarctica (EPICA) and Greenland (NorthGRIP). The Glaciology Group of the Niels Bohr Institute, University of Copenhagen, was assigned the task of...... providing drilling capability for these projects, as it had done for the GRIP project. The group decided to further simplify existing deep drill designs for better reliability and ease of handling. The drill design decided upon was successfully tested on Hans Tausen Ice Cap, Peary Land, Greenland, in 1995...

  14. Singer Han Hong

    Institute of Scientific and Technical Information of China (English)

    KIRIN; KID

    2000-01-01

    HAN Hong had a happy childhood in the beautiful Xigaze City, Tibet. From the children's chorus, the military art troupe, the Prize Winning Competition on TV, up to the institute of art, she has never stopped singing. The difference to other singers her age is that she not only wishes to be a singer but a composer. Not satisfied with just singing the songs of others, she began expressing her happiness and sadness by writing her own. Finally she finished her first collection Rays in Tibet, which is the fi...

  15. Risk of cancer other than breast or ovarian in Chinese Han women with BRCA1/2 mutations%中国汉族BRCA1/2突变的乳腺癌家系中其他肿瘤发病风险分析

    Institute of Scientific and Technical Information of China (English)

    刘静; 张娟; 欧阳涛; 李金峰; 王天峰; 范照青; 范铁; 林本耀; 解云涛

    2013-01-01

    Objective To investigate the risk of cancer other than breast or ovarian in Chinese Han women with family breast cancer who carried a BRCA1 or BRCA2 mutation.Methods Germline mutations in BRCA1/2 genes in the cohort of 465 Chinese Han patients with familial breast cancer were screened using a PCR-sequencing assay.The proportion of cancer other than breast or ovarian was compared in mutantion group and non mutation group.Results Among the 465 familial breast cancer patients,47 (10.1%) were BRCA1/2 mutation carriers and 418 (89.9%) were non-carriers.There was no significant difference in the total proportion of cancers other than breast or ovarian in the family between BRCA1/2 mutation carriers and non-carriers (27.7% ∶29.9%,x2 =0.10,P=0.75).But the tumor spectrum was different between the BRCA1/2 carriers and non-carriers.In the family of BRCA1/2 carriers,the most common cancers were gastric cancer,pancreatic cancer,and prostate cancer; while in the non-carriers,the most common cancers were lung cancer,gastric cancer,and esophageal cancer.The relative risk of gastric cancer,pancreatic cancer and prostate cancer was significantly higher in the families of BRCA1/2 mutation carriers than that of non-carriers (17%∶7.7%,odd ratio:2.47,95% CI:1.07-5.74,P =O.048).Conclusion This study suggests that the relative risk of gastric cancer,pancreatic cancer and prostate cancer in BRCA1/2 carriers is moderate higher than in non-carriers in Chinese Han women.%目的 研究携带BRCA1/2突变的中国汉族家族性乳腺癌家系中非乳腺癌和卵巢癌的其他肿瘤发病风险.方法 采用聚合酶链反应(PCR)-直接测序法检测465个汉族家族性乳腺癌家系中先证者的BRCA1/2基因胚系突变,比较突变组与非突变组有非乳腺癌和卵巢癌的其他肿瘤家族史的比例.结果 在465例汉族家族性乳腺癌先证者中,BRCA1/2突变者47例(10.1%),非突变者418例(89.9%).在BRCA1/2突变组和非突变组中,两者总

  16. Ovulation dysfunction infertility in patients with Chinese Medicine Analysis of five-pattern personality and anxiety

    OpenAIRE

    Ying-yin MO; Guo, Li; Mei-xia WEI; Lan ZENG; Gui-yun TAN; Yang, Jun-Wen

    2014-01-01

    Objective: Finding out the relationship between five-pattern personality and anxiety 、depression characteristics of the DOI patients. Methods: 200 DOI patients were selected in the Infertility Specialist of Guangzhou Liwan District Hospital of Chinese Medicine,at the same time, researchers choose normal women as controls. Respondents filled in the Five-pattern Personality Scales、SAS、SDS and general information questionnaire. Results: The proportion of shaoyin personality of the DOI patients(5...

  17. Accelerated Partial Breast Irradiation with Intensity-Modulated Radiotherapy Is Feasible for Chinese Breast Cancer Patients

    OpenAIRE

    He, Zhenyu; Wu, Sangang; Zhou, Juan; Li, Fengyan; Sun, Jiayan; Lin, Qin; Lin, Huanxin; Guan, Xunxing

    2014-01-01

    Purpose Several accelerated partial breast irradiation (APBI) techniques are being investigated in patients with early-stage breast cancer. The present study evaluated the feasibility, early toxicity, initial efficacy, and cosmetic outcomes of accelerated partial breast intensity-modulated radiotherapy (IMRT) for Chinese female patients with early-stage breast cancer after breast-conserving surgery. Methods A total of 38 patients met the inclusion criteria and an accelerated partial breast in...

  18. Genetic analysis of SLC41A1 in Chinese Parkinson's disease patients.

    Science.gov (United States)

    Wang, Ling; Cheng, Lan; Li, Nan-Nan; Yu, Wen-Juan; Sun, Xiao-Yi; Peng, Rong

    2015-12-01

    Sequence variants in SLC41A1 (solute carrier family 41 member 1) within the PARK16 locus have been reported to be associated with Parkinson's disease (PD). We performed direct DNA sequencing of the SLC41A1 gene in 100 early-onset PD cases. A novel intron variant (NM_173854.5:c.993-90delA) and a known synonymous-coding variant (NM_173854.5:c.339 C>T, causing p.Thr113Thr, rs11240569) were identified in the SLC41A1 gene. Then we genotyped the rs11240569 variant in a total of 2237 Han Chinese comprising of 1063 sporadic PD and 1174 controls to investigate the association with risk of PD, we also conducted further stratified analysis according to age at onset and compared the clinical characteristics of CC + CT subjects with TT subjects. In this study, we confirmed that the C allele of SLC41A1 (rs11240569) polymorphism reduces the risk to develop sporadic PD (P = 0.018). Additionally, subjects with CC + CT genotypes have a reduced risk compared to those with TT genotype (P = 0.022), the association was modestly seen among the younger age group (P = 0.05), but was not significant among the older age group (P = 0.641). Besides, we demonstrated that CC + CT subjects cannot be distinguished from TT subjects based on their clinical features. Our study, the first demonstrates that SLC41A1 (rs11240569) is associated with a lower risk of PD in a Han Chinese population from mainland China. PMID:26308152

  19. Genetic analysis of mitochondfial DNA in two consanguineous Chinese Han Leber's hereditary optic neuropathy families%中国汉族Leber遗传性视神经病变家系的遗传学检测与分析

    Institute of Scientific and Technical Information of China (English)

    陈雪娟; 高翔; 赵晨; 赵堪兴

    2013-01-01

    Objective To investigate the genetic basis for two consanguineous Chinese Han Leber's hereditary optic neuropathy(LHON) families.Methods All participants in two families were examined clinically and the genomic DNA was extracted from peripheral venous blood.PCR and Sanger sequencing were performed to screen mutations in the whole mitochondfial DNA(mtDNA).The sequence results were analyzed and compared with the updated consensus Cambridge sequence to identify new mutations and classify the haplotype.Results Genetic analysis identified the ND4 m.11778G>A primary mutaion in both families.The whole mtDNA sequence analysis results showed 45 variants,which classified the two families separately to haplogroup R11b and haplogroup B4b.Conclusion Primary mutation ND4 m.11778G>A is very likely the pathogenical mutation for the two LHON families.In addition,belong to different haplogroups would like the main reason for the differences in penetrance,the age of onset and the severity between the two families.%目的 探讨2个中国汉族Leber遗传性视神经病变(LHON)家系的遗传学基础.方法 提取所有参与者外周血全基因组DNA,并对2个先证者及其他母系成员进行详细的眼科检查.采用PCR方法扩增ND1 m.3460G>A、ND4 m.11778G>A和ND6 m 14484T>C三个原发突变,Sanger测序明确原发突变后,对2个先证者扩增线粒体DNA(mtDNA)全序列;测序结果与最新剑桥标准mtDNA序列比对,分析2个家系的线粒体单体型.结果 2个家系均携带ND4 m 11778G>A原发突变,但LHON的外显性、发病年龄及病情严重程度存在一定差异.2个家系mtDNA全序列测序结果共存在45个mtDNA变异位点,分别归属于东亚单体组R11b和B4b.结论 除受ND4m.11778G>A纯合原发突变影响外,线粒体单体型也可能调控LHON.

  20. 广东省6~15周岁汉族人牙龄的研究%The study on dental age of Chinese Han nationality adolescents aged 6 ~ 15 years old in Guangdong province

    Institute of Scientific and Technical Information of China (English)

    张田; 袁雅洁; 田雪梅; 汪冠三; 赖跃; 张彦甫; 董迎春; 谭宇; 张慧; 李雪英

    2011-01-01

    Objective To observe explorer the development of dental calcification through orthopantomographs collected from the groups aged 6 ~ 15 years old in Guangdong province, then to set up methods for age estimation. Methods Referring to the reported standard to grade the stage of low mandibular dental calcification showing in the digital orthopantomograms belonging to 2 710(male 1 363, female 1 347) samples aged 6-15 years old in Guangdong, and deal the figure with SPSS 13.0 and set up equations for age estimation, then to do blind test based on 100 samples(male 60, female 40). Results There are no significant statistic differences in the low mandibular dental calcification stage between sides, but the differences do exist between gender; meanwhile, there is a good relation between chronological age and dental calcification; the blind test proves that the method used in this study is practical. Conclusion The method set up in this study will play an important role in estimating age for Chinese Han nationality adolescents aged from 6 to 15 years old in Guangdong.%目的 研究广东省6~15周岁人群牙齿钙化的规律,建立根据牙齿钙化程度推断未成年人年龄的方法.方法 观测2710例(男性1 363例,女性1 347例)广东省6~15周岁汉族人全口曲面断层影像片,对其下颌牙齿钙化程度进行评分分级,所得数据经SPSS软件统计分析,建立根据牙齿钙化程度推断年龄的方程,并以100例(男60例、女40例)研究外样本进行盲测.结果 数据统计显示,两侧同名牙钙化评分分级值的差异无显著性意义(P>0.05),而性别间差异有显著性意义(P<0.05);下颌单侧8颗牙齿的钙化评分分级值与年龄相关系数(r)女性为0.552 ~0.759,男性为0.672~0.838;所建回归模型拟合优度(R2)均在0.7以上,估计值标准误男性为0.91~1.11岁,女性为0.92 ~0.98岁;盲测推测年龄与真实年龄平均误差男性为0.429±0.282岁、女性为0.399±0.252岁.结论

  1. 单剂量静滴头孢吡肟在中国五个民族人群中的药动学%Pharmacokinetcs of Single Dose Cefepime Injection in Chinese Han,Mongolia,Korean,Uigur,and Hui Healthy Volunteers

    Institute of Scientific and Technical Information of China (English)

    郭涛; 夏东亚; 段威; 赵龙山; 曾平; 肖勇; 赵东祥; 杨长青; 白音

    2012-01-01

    and compare the pharmacokinetics of cefepime in healthy volunteers of different Chinese nationalities (Han,Mongolia,Uigur,Korea,and Hui) and different genders,thus to provide instruction and help for using cefepime safely,rationaly and effectively in both ordinary clinic and remedy of battle wound. METHODS A single dose of 1. 0 g cefepime was given by intravenous infusion under fasting condition to ten healthy volunteers (five males and five females) of each Chinese nationality. Plasma samples were obtained before dosing and at various predetermined time points after the dosing,and the plasma concentrations were determined by a validated HPLC-UV method. The pharmacokinetic parameters were calculated by DAS2.0 software and were compared by SPSS11.5 software. RESULTS The PK parameters of cefepime in Han,Mongolia,Uigur,Korea and Hui nationalities after a single intravenous administration of 1.0 g were as follows · t1/2β (1. 97 ± 0. 20),(2. 10 ± 0. 33),(2.06 ± 0. 33),(2.40 ±0.65),and(1.94 ±0. 24) h; AUC0-∞ (139.69 ± 23. 78 ),( 153.92 ± 22.79),(165.58 ±24.49),(142.11 ±29.77),and (132.78 ±23. 79) mg · h · L-1 ;ρmax(68.75 ± 10.41) ,(78.22 ±13.87) ,(83.19 ± 10. 31) ,(73. 82 ±9.59),and(62.91 ±10.09) mg · L-1,respectively. The PK parameters of cefepime in 25 male volunteers and 25 female volunteers after a single intravenous administration of 1.0 g were as follows: t1/2β(2. 06 ±0.54)and(2. 13 ±0.44)h; AUC0-∞ (134. 06 ±22. 33)and( 158. 68 ±24. 85)mg · h· L-1;ρmax(66.94±9. 14)and(78.95±12.71)mg · L-1 respectively. Results of ANOVA and Kruskal-Wallis rank test showed that there were no significant differences in the PK parameters Vd,CL,InAUC,and t1/2β of different nationalities and in Vd and t1/2β of different genders,but there were significant differences in lnρmax of different nationalities and CL,InAUC,and lnρmaxof dif-ferent genders. Then,it was found there was high linear correlation( P <0. 01 ) between body weight and CL,InAUC and In

  2. Identification of CFTR Gene Mutations in Chinese Patients with Congenital Obstructive Azoospermia

    Institute of Scientific and Technical Information of China (English)

    曾国华; 吴开俊; 梅骅; 庄广伦

    2001-01-01

    Objective To analyze the frequency and hot spot of CFTR gene mutations in Chinese patients with congenital obstructive azoospermia Materials & Methods Mutations in CFTR exon 2,3,4,5,6a,8,10,11,12,13,15A 17b, 19A,20,21and 23 were detected. PCR-single strand conformation poly-morphism (SSCP) and direct sequencing were performed on 32 patients with congenital bilateral absence of the vas deferens (CBAVD), 17 patients with congenital unilateral absence of the vas deferens (CUAVD) and 50 normal Chinese.Results No CFTR gene mutations were detected in 50 normal Chinese. One CBAVD patient exhibited an abnormal band on SSCP for exon 10 of the CFTR gene and subsequent DNA sequencing showed a 3 bp deletion at position 1 653~ 1 655, which caused the deletion of a single amino acid, phenyalanine, in codon 508, i. e. , △F 508. A shift mutation was detected in another CBAVD patient in exon 2, a 1 bp deletion at position 225, 225 delC. One CUAVD patient exhibited an abnormal band on SSCP for exon 17 b of CFTR gene. Subsequent DNA sequencing showed a C-to-A transversion at position 3 295, which led to a predicted change of Leusine (codon 1 055,CUU) to Isoleucine (codon AUU), L1055I.Conclusion CFTR mutation could be detected in Chinese patients with congenital obstructive azoospermia. But no hot spots of mutations are discovered. 225 delC and L1055I are identified as two novel mutations, which are found only in Chinese.

  3. Expectation in Life Review: A Term of Spiritual Needs Easily Understood by Chinese Hospice Patients.

    Science.gov (United States)

    Deng, Di; Deng, Qing; Liu, Xiaofang; Xie, Cong Hua; Wu, Xin

    2015-11-01

    Terms such as spirituality and spiritual needs are abstract and difficult to understand. Realization of spirituality of hospice patients was premise in addressing expression of their spiritual needs. This study investigated expectations expressed during life review and tried to prove that the expectation was intelligible term for spiritual needs in Chinese hospice from May 2011 to June 2013. Among the 107 recruited patients, families were the most frequent emotion-expressing recipients, and 133 expectations related to patients' spiritual needs were identified. The emotion-expressing recipients and the patient's expectations were not affected by demographic characteristics. The expectations in life review with hospice patients and their families had the features of spiritual essence. The identified expectation contents could be used to address spiritual needs in hospice care in Chinese. PMID:24963084

  4. Clinical use of azelnidipine in the treatment of hypertension in Chinese patients

    Directory of Open Access Journals (Sweden)

    Chen BL

    2015-02-01

    Full Text Available Bi-Lian Chen,1,* Yin-Zhuang Zhang,1,* Jian-Quan Luo,2,3 Wei Zhang2,3 1Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China; 2Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China; 3Institute of Clinical Pharmacology, Central South University, Changsha, Hunan, People’s Republic of China *These authors contributed equally to this work Background: Hypertension is the most common chronic disease and the calcium channel antagonist is the most popularly used antihypertensive drug in Chinese patients. Azelnidipine is a third generation and long-acting dihydropyridine calcium channel antagonist. A series of research has demonstrated that azelnidipine produced an effective antihypertensive effect in patients with essential hypertension. Now it is need to summarize clinical use of azelnidipine in the treatment of hypertension in Chinese patients. Methods: Relevant literature was identified by performing searches in PubMed and CNKI (China National Knowledge Infrastructure, covering the period from January 2003 (the year azelnidipine was launched to July 2014. We included studies that described pharmacology of azelnidipine, especially the pharmacokinetics, clinical efficacy, and safety and tolerability of azelnidipine in a Chinese population. The full text of each article was strictly reviewed, and data interpretation was performed. Results: In Chinese healthy volunteers, a single-dose oral administration of azelnidipine 8–16 mg had a peak plasma concentration of 1.66–23.06 ng/mL and time to peak plasma concentration was 2.6–4.0 hours and the area under the plasma concentration versus time curve from time 0 hour to 96 hours was 17.9–429 ng/mL·h and elimination half-life was 16.0–28.0 hours. A number of clinical trials have demonstrated that azelnidipine produced a significant reduction in blood pressure in

  5. 中国南方汉族散发早发性帕金森综合征的parkin基因突变分析%Analysis of parkin gene mutations in Han Chinese with sporadic early-onset parkinsonism in southern China

    Institute of Scientific and Technical Information of China (English)

    聂利珞; 唐北沙; 严新翔; 郭纪锋; 张海南; 张学伟; 王磊; 罗林紫; 沈璐; 江泓; 夏昆

    2010-01-01

    目的 探讨中国南方汉族散发早发性帕金森综合征(early onset parkinsonism,EOP)的parkin基因突变特点.方法 应用实时荧光定量PCR技术结合DNA直接测序技术对156例中国南方汉族散发EOP患者进行parkin基因突变分析.结果 19例患者parkin基因突变,包括15例杂合突变、2例纯合突变、2例复杂杂合突变.17例患者外显子重排突变,其中12例外显子缺失突变,5例外显子双重重复突变.此外,3例患者存在点突变和(或)小片段缺失突变,其中ⅣS9+18C>T、c.202-203delAG为已报道突变,c.813delT为未报道的新突变;parkin基因突变位点主要分布在其1~7号外显子.无parkin基因突变与有parkin基因突变的患者在临床表现及病情严重程度方面差异无统计学意义,但发病年龄[(40.9±6.8)岁与(35.5±10.0)岁,Z=-2.271,P=0.023)]、病程[(4.4±3.6)年与(7.6±4.0)年,Z=-3.680,P=0.000)]等方面差异有统计学意义.结论 中国南方汉族散发EOP患者parkin基因突变的频率为12.18%(19/156),外显子重排突变是其重要突变类型;外显子缺失突变是主要的突变形式;parkin基因1~7号外显子为突变热点.parkin基因突变与无parkin基因突变的EOP患者在临床表型上无明显差异,但其发病年龄较轻,病程较长,进展较缓慢.%Objective To investigate the spectrum and features of parkin gene mutations in Chinese patients with sporadic early-onset Parkinsonism (EOP) in southern China.Methods All 156 Han Chinese patients with sporadic EOP were screened for mutations in parkin gene using SYBR Green Ⅰ Real-time PGR combined with sequencing of the entire coding region of the gene.Results Nineteen cases carried parkin mutations, including 2 homozygous, 2 compound heterozygous and 15 heterozygous mutations.Seventeen parkin gene rearrangement mutations ( 12 exon deletions and 5 exon duplications) and three small sequence mutations (ⅣS9 + 18C > T,c.202-203delAG and c.813delT) were identified

  6. Association Study of IL-12B Polymorphisms Susceptibility with Ankylosing Spondylitis in Mainland Han Population.

    Directory of Open Access Journals (Sweden)

    Li Zhang

    Full Text Available This study aims to determine whether the genetic polymorphisms of IL-12B gene is a susceptibility factor to Ankylosing spondylitis (AS in mainland Han Chinese population.Eight single-nucleotide polymorphisms (SNPs (rs10045431, rs11167764, rs3212227, rs6556412, rs6556416, rs6871626, rs6887695 and rs7709212 in the IL-12B gene were genotyped by iMLDR Assay technology in 400 patients [96% (384/400 HLA-B27(+] and 395 geographically and ethnically matched healthy controls in mainland Han Chinese population. The correlation between IL-12B genetic polymorphisms and AS activity index (BASDAI, BASFI were tested.The significant difference was found in genotype distribution between AS and healthy controls (χ2 = 6.942, P-value = 0.031 of the SNP rs6871626. Furthermore, significant evidence was also detected under the recessive model for minor allele A. The AA genotype carrier had 1.830 fold risk compared with C allele carrier (with CC and AC genotypes [OR (95% CI = 1.830 (1.131-2.961, P-value = 0.014]. Nevertheless, the difference was no longer significant after Bonferroni correction. Subset analysis on cases with HLA-B27(+ did find the same results. Three genotypic groups (AA, CC and CA in rs6871626 site was highly associated with the BASDAI and BASFI (P-value = 0.012 and P-value = 0.023, respectively, after adjustment for effect of age, sex, and disease duration, the P-value was 0.031 and 0.041, respectively. The AA genotype of rs6871626 was also significantly correlated with an increased BASDAI and BASFI compared to the AC and CC genotypes in AS patients.Our findings suggest that rs6871626 may be associated AS susceptibility and with disease activity (BASDAI, BASFI in mainland Han Chinese population.

  7. HLA-DRB1基因多态性与急性淋巴细胞白血病和慢性髓性白血病易感性关联的研究%Association between HLA-DRB1 allele polymorphism and susceptibility to acute lymphoblastic leukemia and chronic myelogenous leukemia in Chinese Han

    Institute of Scientific and Technical Information of China (English)

    曹孟德; 陈宗德; 苏堤; 秦东春; 岳保红; 苏天水; 燕桂香; 盛光耀

    2001-01-01

    目的探讨急性淋巴细胞白血病(ALL)和慢性髓性白血病(CML)易感性与HLA-DRB1基因多态性之间的关联性,找出急性淋巴细胞白血病和慢性髓性白血病的易感基因。方法采用序列特异性引物聚合酶链反应(PCR-SSP)DNA分型技术对56例ALL患者、48例CML患者和105例健康对照进行了HLA-DRB1基因分型。结果 ALL患者组与HLA-DR7基因关联,基因频率为24.1%,RR =2.56,χ2=7.34,P<0.01;CML患者组与HLA-DR4基因关联,基因频率为22.9%,RR =5.076,χ2=17.88,P<0.01;其他等位基因频率在实验组与对照组间差异无显著性。结论提示在河南汉族人群中,HLA-DR7与ALL有关联,HLA-DR4与CML有关联。%Objective To explore the possible association between HLA-DRB1 allele polymorphism and susceptibility to acute lymphoblastic leukemia(ALL) as well as chronic myelogenous leukemia(CML) in Chinese He′nan Han People and to find the predisposing genes of ALL and CML. Methods 105 normal people and 56 ALL patients and 48 CML patients of He′nan Han nationality were tested for HLA-DRB1 by polymerase chain reaction with sequence specific primers(PCR-SSP). Results Compared with normal controls, the frequency of HLA-DR7 was significantly increased in ALL group with a relative risk (RR) as 2.56 (χ2 =7.34, P<0.01) and with an etiological fraction (EF) as 0.29; the frequencies of other DRB1 alleles were not significantly increased in the ALL group. The frequency of HLA-DR4 was significantly increased in CML patient group, with a relative risk (RR) as 5.076 (χ2=17.88, P<0.01) and with an etiological fraction (EF) as 0.18, while the frequencies of other DRB1 alleles were not significantly increased in CML group. Conclusion These results showed that susceptibility to ALL is positively related to HLA-DR7 gene and susceptibility to CML is strongly correlated with HLA-DR4 gene.

  8. T细胞受体α链稳定区基因-575A/G与原发抗中性粒细胞抗体相关性小血管炎的关联分析%Relationship of TCRCα-575A/G polymorphism with anti-neutrophil antibody associated vasculitis in Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    薛超; 张益民; 廖蕴华; 杨桢华; 黄莉; 许佳; 项新

    2009-01-01

    Objective To investigate the relationship of TCRCα-575A/G polymorphism with anti-neutrophil antibody(ANCA) associated vasculitis in Chinese Han population. Methods 86 cases of ANCA associated vasculi-tis in Chinese Han population and 196 healthy subjects were enrolled. TCRCα-575A/G was genotyped by PCR-re-striction fragment length polymorphism (PCR-RFLP) assay. Case-control study was performed. Results No signifi-cant difference was found in either genotype distribution(AA,AG,GG) or allele frequencies between 86 patients and healthy subjects(P>0.05);But significant differences between AA group, AG group, and GG group in systolic pres-sure[(127.47±24.18)、(124.11±25.21)、(148.92±19.23) mm Hg],diastolic pressure [(75.35±14.12)、 (74.50±13.01)、(85.46±9.40) mm Hg],red blood cell count[(3.41±1.01)×109/L、(3.46±1.04)× 109/L、(2.68±0.67)×109/L] and hemoglobin [(90.45±20.69)、(100.66±29.80)、(77.61±15.81) g/L (P0.05 ). Conclusions In Chi-nese Han population,TCRCα-575A/G polymorphism might not be related to genetic susceptibility and chronic renal failure of ANCA associated vaseulitis;but G allele might be associated with more serious anaemia and hypertension.%目的 探讨T细胞受体α链稳定区(TCRCα)基因-575 A/G多态性与汉族人群原发抗中性粒细胞抗体(ANCA)相关性小血管炎的关联关系.方法 86例原发ANCA相关性小血管炎汉族患者与196例汉族健康人作对照,PCR-RFLP鉴定其TCRCα-575A/G基因型,进行病例-对照研究与临床分析.结果 86例患者中,TCRCα基因-575 A/G存在从、AG、GG 3种基因型和A、G 2种等位基因,与正常对照组相比,分布频率差异均无统计学意义(P均>0.05);TCRCα基因-575A/G基因型不同的患者组(AA组、AG组、GG组)相比,在收缩压[(127.47±24.18)、(124.11±25.21)、(148.92±19.23)mm Hg]、舒张压[(75.35±14.12)、(74.50±13.01)、(85.46±9.40)mm Hg]、红细胞数[(3.41±1.01)×109/L、(3.46±1.04)×109/L、(2.68±0.67)×109/L

  9. Risk factors and therapeutic response in Chinese patients with peptic ulcer disease

    Institute of Scientific and Technical Information of China (English)

    Shou-Wu; Lee; Teng-Yu; Lee; Hong-Zen; Yeh; Chun-Fang; Tung; Yen-Chun; Peng

    2010-01-01

    AIM:To assess the risk factors and the eff icacy of medications of patients with gastric and duodenal ulcers among Chinese patients in Taiwan.METHODS:Patients with peptic ulcers,diagnosed by upper endoscopy,were retrospectively collected between January 2008 and December 2008.The differences were compared.RESULTS:Among all 448 cases,254(56.6%) and 194(43.4%) patients had gastric ulcers and duodenal ulcers respectively.Patients with gastric ulcers were younger than those with duodenal ulcers.Although more me...

  10. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

    Directory of Open Access Journals (Sweden)

    Shuzhi Yang

    Full Text Available Waardenburg Syndrome (WS is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF gene mutations account for about 15% of WS type II (WS2 cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0% and heterochromia iridum (20/20, 100.0% were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0% had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14, which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients.

  11. Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.

    Science.gov (United States)

    Yang, Shuzhi; Dai, Pu; Liu, Xin; Kang, Dongyang; Zhang, Xin; Yang, Weiyan; Zhou, Chengyong; Yang, Shiming; Yuan, Huijun

    2013-01-01

    Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the MITF gene of 20 Chinese WS2 patients from 14 families. A high level of clinical variability was identified. Sensorineural hearing loss (17/20, 85.0%) and heterochromia iridum (20/20, 100.0%) were the most commonly observed clinical features in Chinese WS2 patients. Five affected individuals (5/20, 25.0%) had numerous brown freckles on the face, trunk, and limb extremities. Mutation screening of the MITF gene identified five mutations: c.20A>G, c.332C>T, c.647_649delGAA, c.649A>G, and c.763C>T. The total mutational frequency of the MITF gene was 21.4% (3/14), which is significantly higher than the 15.0% observed in the fair-skinned WS2 population. Our results indicate that MITF mutations are relatively common among Chinese WS2 patients. PMID:24194866

  12. Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.

    Science.gov (United States)

    Huang, Zhuo; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Zhang, Huiwen; Yu, Yongguo; Liang, Lili; Gong, Zhuwen; Gu, Xuefan

    2016-04-01

    Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder caused by defective synthesis of all steroids. This disorder is characterized by 46,XY sex reversal, skin hyperpigmentation, early-onset adrenal crisis and enlarged adrenal with fatty accumulation. CLAH is caused by mutations in the STAR gene. The clinical features and STAR gene mutation spectrum of a large cohort of Chinese patients with CLAH were not reported previously. We performed clinical retrospective review and genetic analysis of the STAR gene in ten unrelated Chinese phenotypic female patients who were clinically diagnosed with CLAH and followed up in our hospital from 2006 to 2015. All ten patients, including two 46,XY females and eight 46,XX females, presented skin hyperpigmentation and early salt-wasting episode, and showed normal growth and development after steroid replacement treatment. Totally 20 mutant alleles containing 11 different STAR gene mutations were identified in these ten patients, including five novel variants (two missense and three null variants), all predicted to be pathogenic in bioinformatics analysis, and six mutations described in previous literature. Among these 11 mutations, a reported mutation c.772C>T and a novel variant c.707_708delinsCTT were most frequent, accounting for 35% and 15% of the total mutant alleles, respectively. This is the first report of a large Chinese cohort with CLAH, presenting the mutation spectrum of the STAR gene and two possible founder mutations in the Chinese population, which may contribute to better genetic counseling and prenatal diagnosis. PMID:26827627

  13. Evaluating the Effectiveness of a Participatory Empowerment Group for Chinese Type 2 Diabetes Patients

    Science.gov (United States)

    Lou, Vivian W. Q.; Zhang, Yiqi

    2006-01-01

    Objective: This study evaluated the effectiveness of a Participatory Empowerment Group (PEG) for Chinese type 2 diabetes patients in Shanghai. Method: A randomized waiting list control and pretest and posttest comparisons were used to evaluate the effectiveness of the intervention by comparing blood sugar level and health-related quality of life.…

  14. Treatment of abdominal compartment syndrome in severe acute pancreatitis patients with traditional Chinese medicine

    OpenAIRE

    Zhang, Min-Jie; Zhang, Guo-Lei; Yuan, Wen-Bin; Ni, Jun; Huang, Li-Feng

    2008-01-01

    AIM: To investigate the therapeutic effect of traditional Chinese traditional medicines Da Cheng Qi Decoction (Timely-Purging and Yin-Preserving Decoction) and Glauber’s salt combined with conservative measures on abdominal compartment syndrome (ACS) in severe acute pancreatitis (SAP) patients.

  15. Association between HLA-A,HLA-B,HLA-DRB1 polymorphisms and chronic kidney disease in Han Chi-nese population from northwestern plateau%西北高原汉族人群人类白细胞抗原-A、B、DRB1基因多态性与慢性肾衰竭相关性分析

    Institute of Scientific and Technical Information of China (English)

    欧剑锋; 任晖; 张茜; 王存邦; 白海

    2014-01-01

    目的:研究西北高原汉族人群人类白细胞抗原(human leukocyte antigen,HLA)-A、B、DRB1基因多态性与慢性肾脏疾病(chronic kidney disease,CKD)的相关性。方法选择410例等待肾移植的CKD患者和403例健康个体作为研究对象,且所有研究对象均来自中国西北高原地区并在当地生活多年。采用序列特异引物聚合酶链式反应技术对研究对象进行基因分型,比较两个群体HLA-A、HLA-B和 HLA-DRB1基因频率的差异,并采用相对风险系数评价 HLA与CKD的相关性。结果与健康对照组比较,CKD 组 HLA-A∗32(2.43%比0.37%,P=0.001;odds ratio [OR]=6.692,confidence interval [CI]:1.981~22.608)、HLA-A∗68(2.07%比0.37%,P=0.002;OR=5.667,CI:1.654~19.412)和HLA-DRB1∗16(3.41%比0.87%,P=0.001;OR=4.035;CI:1.753~9.292)具有高频率,而HLA-B∗14(0.36%比1.48%,P=0.02;OR=0.243;CI:0.068~0.864)却频率较低。结论西北汉族人群中,HLA-A∗32、HLA-A∗68和 HLA-DRB1∗16可能是 CKD 的易感基因,而HLA-B∗14则可能是保护性基因。%Objective To investigate the association between chronic kidney disease (CKD)and the polymorphism of human leukocyte antigen (HLA)-A,B,DRB1 and to find susceptible genes and protective genes in Han Chinese population from northwestern plateau.Methods 410 patients with CKD who underwent HLA typing for future kidney transplantation and 403 healthy individuals were enrolled in this study.All participants were northwestern Han Chinese who have been living in high al-titude for several decades.HLA genes were detected by a polymerase chain reaction (PCR)method,u-sing DNA sequence-specific primers (SSP).Then the frequencies of HLA genotypes were statistically analyzed and relative risks (RR)for the disease were calculated between CKD patients and healthy in-dividuals.Results Our results showed that the gene frequencies of HLA-A∗32 (2.43% vs.0.37%, P=0.001,odds ratio [OR]=6.692,confidence interval [CI]:1.981-22.608),HLA

  16. Interview Hans Blix

    CERN Multimedia

    2013-01-01

    The Thorium Energy Conference, ThEC13, ran from 27 to 31 October at CERN, addressing the scientific and technical advances offered by thorium – a silvery white metal four times more abundant than uranium in the Earth's crust – in alternative nuclear technologies for energy production and for the destruction of nuclear waste. Conference Chair Egil Lillestol invited Swedish diplomat and politician Hans Blix to talk about "Thorium Nuclear Power and Non-Proliferation". In a career spanning more than 50 years, Blix has been head of the International Atomic Energy Agency and the United Nations Monitoring, Verification and Inspection Commission. During the 1990s, CERN has been pioneering thorium technologies research with experiments instigated by Nobel laureate Carlo Rubbia, testing the basic concepts of a thorium-fuelled reactor driven by a proton accelerator.

  17. Clinicopathological Characteristics and Prognosis of Colorectal Cancer in Chinese Adolescent Patients

    Institute of Scientific and Technical Information of China (English)

    Feng Du; Su-Sheng Shi; Yong-Kun Sun; Jin-Wan Wang; Yihebali Chi

    2015-01-01

    Background: Colorectal adenocarcinoma rarely occurred in adolescent.Clinical feature and prognosis of this population are not clear until now.In addition, DNA mismatch repair (MMR) status may relate to the early disease occurrence.The present study aimed to perform a retrospective analysis of adolescent patients with colorectal cancer, including clinicopathological characteristics and prognosis.Methods: The medical records of 11,503 patients diagnosed as colorectal cancer in Cancer Hospital, Chinese Academy of Medical Sciences from January 1999 to December 2009 were retrospectively reviewed.Finally, 19 patients who were between 10 and 20 years old were selected as the study group.We summarized the clinicopathological characteristics, analyzed the association with prognosis and assessed the expression of MMR protein by immunohistochemical method.Results: The most common primary site was the right colon in 7 patients.Ten patients had Stage Ⅲ colorectal cancer, 5 patients had Stage Ⅳ disease.Signet ring cell carcinoma was the most fiequent pathological type (7/19).Deficient MMR was identified in 2 patients.The 5-year survival rate and median survival time were 23.2% and 26 months.Distant metastasis was identified as an independent prognostic factor (P =0.02).Conclusions: Colorectal cancer in Chinese adolescents was very rare.The chinese adolecents with colorectal cancer were frequently diagnosed in the right colon, as Stage Ⅲ/Ⅳ disease with signet ring cell carcinoma.The prognosis was relatively poor.

  18. Polymorphisms of angiotensin-converting enzyme 2 gene confer a risk to lone atrial fibrillation in Chinese male patients

    Institute of Scientific and Technical Information of China (English)

    WANG Shu-xia; TAO Tao; FU Zhi-qing; XIE Xiang-zhu; WANG Hao; WANG Yu-tang

    2013-01-01

    Background Growing epidemiologic evidence has indicated that genetics can predispose individuals to the occurrence of lone atrial fibrillation (AF).The angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with hypertension and left ventricular hypertrophy.The objective of our study was to investigate the association of ACE2 gene polymorphisms with lone AF.Methods A total of 265 consecutive lone AF patients and 289 healthy controls were successfully investigated.The polymorphisms rs2106809 and rs2285666 were genotyped by polymerase chain reaction (PCR) and direct sequencing.A Logistic regression model was used to determine the odds ratio (OR) and 95% confidence intervals (CI) of variations of ACE2 for lone AF.Results The T allele of rs2106809 conferred an increased risk for lone AF (OR 1.24,95% CI 1.01-1.52,P=0.03) in males after adjustment for conventional risk factors.SNP at rs2285666 in males was not significantly different between AF patients and controls.No association was found between the two polymorphisms in the female population with lone AF.After (36.3±4.5) months of follow-up,the end point data were obtained:death (cardiac and noncardiac),ischemic stroke,and heart failure.In the male subgroup,the associations between rs2106809 T male carriers and combined end points including ischemic stroke,heart failure,and death in our study were of significance (OR 3.6,95% CI 1.0-13.1,P=0.04).Conclusions The results indicate that polymorphism at ACE2 gene is associated with male lone AF in a Chinese Han population.Lone AF males who carry the rs2106809 T allele are associated with adverse cardiac events.

  19. Clinical and genetic features of variegate porphyria in a Chinese patient

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Acute porphyria is rare in orientals. We describe a Chinese woman with recurrent generalised tonic-clonic seizures and abdominal pain. Genomic DNA studies identified a heterozygous base substitution from guanine to adenine at nucleotide position 503, resulting in substitution of arginine by histidine at position 168 of the protein (R168H). This genetic abnormality is similar to the mutation reported in Caucasians with variegate porphyria. To the best of our knowledge, this is the first report in the English literature a Chinese patient with variegate porphyria with an identifiable mutation. A brief review of porphyria is presented.

  20. Clinicopathological Characteristics and Her-2/neu Status in Chinese Patients with Uterine Papillary Serous Carcinoma

    OpenAIRE

    Ren, Yulan; Wang, Huaying; Zhou, Xiaoyan; Yang, Wentao; Huang, Xiaowei; Lu, Yongming; Shi, Daren

    2011-01-01

    Objective. To analyze clinico-pathological features of Chinese patients with UPSC, and investigate roles of Her-2/neu protein expression and gene amplification in UPSC prognosis. Methods. Thirty-six patients with UPSC treated in Cancer Hospital of Fudan University from 1996 to 2006 were analysed retrospectively. Chromogenic in situ hybridization (CISH) and immunohistochemistry (IHC) were performed to evaluate Her-2/neu gene amplification and protein expression respectively. Results. The media...

  1. Clinicopathological Characteristics and Her-2/neu Status in Chinese Patients with Uterine Papillary Serous Carcinoma

    OpenAIRE

    Ren, Yulan; Wang, Huaying; Zhou, Xiaoyan; Yang, Wentao; Huang, Xiaowei; Lu, Yongming; Shi, Daren

    2010-01-01

    Objective. To analyze clinico-pathological features of Chinese patients with UPSC, and investigate roles of Her-2/neu protein expression and gene amplification in UPSC prognosis. Methods. Thirty-six patients with UPSC treated in Cancer Hospital of Fudan University from 1996 to 2006 were analysed retrospectively. Chromogenic in situ hybridization (CISH) and immunohistochemistry (IHC) were performed to evaluate Her-2/neu gene amplification and protein expression respectively. Results. The media...

  2. The clinical and genetic features in a cohort of mainland Chinese patients with thyrotoxic periodic paralysis

    OpenAIRE

    Li, Xiaobing; YAO, SHENG; Xiang, Yining; Zhang, Xiaolei; Wu, Xiangbing; LUO, LAIMIN; Huang, Haihua; Zhu, Min; Wan, Hui; Hong, Daojun

    2015-01-01

    Background Thyrotoxic periodic paralysis (TPP) is a life-threatening channelopathy manifesting as recurrent episodes of hypokalemia and muscle weakness in the presence of hyperthyroidism. Recent findings indicate defects of inward rectifying K+ (Kir) channels are associated with some TPP patients. The associations are not only found in Caucasian population (mainly Brazilian), but also in Singaporean population. However, potential genetic risk factors for mainland Chinese patients, the largest...

  3. Olanzapine in Chinese patients with schizophrenia or bipolar disorder: a systematic literature review

    Directory of Open Access Journals (Sweden)

    Xue HBH

    2014-05-01

    Full Text Available Hai Bo Haber Xue,1 Li Liu,1 Hena Zhang,2 William Montgomery,3 Tamás Treuer41Lilly Suzhou Pharmaceutical Co, Ltd, Shanghai Branch, Shanghai, 2China Pharmaceutical University, Nanjing, People’s Republic of China; 3Eli Lilly Australia Pty Ltd, West Ryde, Australia; 4Eli Lilly & Co, Budapest, HungaryBackground: Despite the burden of schizophrenia and bipolar disorder in the Chinese population, country-specific data to guide practitioners regarding antipsychotic therapy are lacking. The primary aim of this systematic review was to examine evidence of the efficacy, effectiveness, and safety of olanzapine in Chinese populations.Methods: A systematic literature search was conducted using databases covering international and Chinese core journals using search terms related to schizophrenia and bipolar disorder, specified countries (People’s Republic of China, Hong Kong, Taiwan, and olanzapine treatment. Following initial screening, inclusion and exclusion criteria were applied to the search results to identify relevant studies from which data were extracted.Results: A total of 489 publications were retrieved and 61 studies were identified for inclusion. Most studies were related to schizophrenia (n=54, with six studies related to bipolar disorder and one study related to both conditions. The quality of study methods and reporting in international journals was noticeably better than in Chinese language journals. Most studies included relatively small patient populations and were of short duration. The efficacy of olanzapine in Chinese populations was confirmed by multiple comparative and noncomparative studies that found statistically significant reductions in symptom measures in studies conducted for ≥6 weeks (schizophrenia or ≥3 weeks (bipolar disorder. Findings related to effectiveness (treatment discontinuation, quality of life, and neurocognitive improvements were generally consistent with those observed in non-Chinese populations. No new

  4. Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease

    Science.gov (United States)

    Xiao, Yuan; Wang, Xin-Qiong; Yu, Yi; Guo, Yan; Xu, Xu; Gong, Ling; Zhou, Tong; Li, Xiao-Qin; Xu, Chun-Di

    2016-01-01

    AIM: To perform sequencing analysis in patients with very early-onset inflammatory bowel disease (VEO-IBD) to determine the genetic basis for VEO-IBD in Chinese pediatric patients. METHODS: A total of 13 Chinese pediatric patients with VEO-IBD were diagnosed from May 2012 and August 2014. The relevant clinical characteristics of these patients were analyzed. Then DNA in the peripheral blood from patients was extracted. Next generation sequencing (NGS) based on an Illumina-Miseq platform was used to analyze the exons in the coding regions of 10 candidate genes: IL-10, IL-10RA, IL-10RB, NOD2, FUT2, IL23R, GPR35, GPR65, TNFSF15, and ADAM30. The Sanger sequencing was used to verify the variations detected in NGS. RESULTS: Out of the 13 pediatric patients, ten were diagnosed with Crohn’s disease, and three diagnosed with ulcerative colitis. Mutations in IL-10RA and IL-10RB were detected in five patients. There were four patients who had single nucleotide polymorphisms associated with IBD. Two patients had IL-10RA and FUT2 polymorphisms, and two patients had IL-10RB and FUT2 polymorphisms. Gene variations were not found in the rest four patients. Children with mutations had lower percentile body weight (1.0% vs 27.5%, P = 0.002) and hemoglobin (87.4 g/L vs 108.5 g/L, P = 0.040) when compared with children without mutations. Although the age of onset was earlier, height was shorter, and the response to treatment was poorer in the mutation group, there was no significant difference in these factors between groups. CONCLUSION: IL-10RA and IL-10RB mutations are common in Chinese children with VEO-IBD. Patients with mutations have an earlier disease onset, lower body weight and hemoglobin, and poorer prognosis. PMID:27350736

  5. Multicenter validation of the value of BASFI and BASDAI in Chinese ankylosing spondylitis and undifferentiated spondyloarthropathy patients

    OpenAIRE

    Lin, Zhiming; Gu, Jieruo; He, Peigen; Gao, Jiesheng; Zuo, Xiaoxia; Ye, Zhizhong; Shao, Fengmin; Zhan, Feng; Lin, Jinying; Li, Li; Wei, Yanlin; Xu, Manlong; Liao, Zetao; Lin, Qu

    2009-01-01

    The objectives of this study were to evaluate the reliability of Bath ankylosing spondylitis functional index (BASFI) and Bath ankylosing spondylitis disease activity index (BASDAI) in Chinese ankylosing spondylitis (AS) and undifferentiated spondyloarthropathy (USpA) patients. 664 AS patients by the revised New York criteria for AS and 252 USpA patients by the European Spondyloarthropathy Study Group criteria were enrolled. BASDAI and BASFI questionnaires were translated into Chinese. Partic...

  6. Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    Objective To describe two Chinese patients with severe forms of Marfan syndrome and to report findings of mutational analysis of the fibrillin-1 (FBN1) gene.Methods Two Chinese patients were studied, one suffering from Marfan syndrome of infantile onset and the other of neonatal onset. Their clinical features were described. Mutational analysis of the FBN1 gene was performed using polymerase chain reaction (PCR) technique and direct sequencing of exons 23 - 32,where the mutational hotspots for severe forms of Marfan syndrome are located.Results Two missense mutations were successfully identified, a G3037A transition and an A3083T transversion, the latter being an unreported mutation.Conclusion Taking advantage of the clustering phenomenon of mutations in severe forms of Marfan syndrome, one can identify FBN1 mutations in these patients by first screening the mutational hotspots,thus reducing the effort that would otherwise be much greater because of the size of the gene.

  7. 福建汉族CYP2C19基因多态性与缺血性脑卒中复发长期风险的相关性%Association of CYP2C19 gene polymorphisms with long-term recurrent risk of ischemic stroke among ethnic Han Chinese from Fujian

    Institute of Scientific and Technical Information of China (English)

    方玲; 赵玉亭; 王柠; 杨珍珍; 黄惠萍; 林珉婷

    2015-01-01

    Objective To assess the association of genetic polymorphisms of CYP2C19 * 2, * 3, * 17 with the recurrence risk of ischemic stroke during clopidogrel prevention in ethnic Han Chinese from Fujian Province.Methods Clinical data of 985 patients with acute ischemic stroke was collected.After 1 year postdischarge follow-up evaluations, only 114 patients with persistence of clopidogrel were enrolled.CYP2C19 genetic polymorphisms were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)and direct sequencing , then we analysis the correlation between polymorphisms and the recurrence of stroke.Results Among the 114 patients, 23 had a second onset whilst receiving clopidogrel treatment.During the antiplatelet therapy with clopidogrel, carriers of CYP2C19 poor metabolizer (CYP2C19 * 2/* 2 or * 2/* 3) had a higher rate of recurrent stroke compared with extensive metabolizers (CYP2C19*1/*1) (OR=4.71, 95%CI: 1.18 18.80, P<0.05).Carriers of CYP2C19 *2 mutant allele had increased recurrence compared with those carrying none loss-of-function allele (OR=2.31, 95%CI: 1.20-4.46, P<0.05).The rate of recurrent stroke in those carrying homozygous mutant * 2 allele (CYP2C19 * 2/* 2) was 6.14 times greater than the rate of wild-type homozygotes (CYP2C19 * 1/* 1) (95%CI: 1.54-24.54, P<0.05).Patients with previous stroke history had increased risk of recurrence (OR=4.146, 95%CI: 1.259-13.655, P<0.05).However, CYP2C19 * 17 was not detected in the group.Conclusion For ethnic Han Chinese patients receiving clopidogrel treatment, carriers of poor metabolizer or homozygous mutant * 2 allele (CYP2C19 * 2/* 2) have a higher risk of recurrent stroke.The CYP2C19 * 2 allele is an independent risk factor for recurrent stroke.Those with previous history of stroke are more prone to the recurrence.%目的 分析应用氯吡格雷进行缺血性脑卒中二级预防患者CYP2C19基因多态性与卒中复发长期风险的相关性.方法 收集985例

  8. Clinical features and risk factor analysis for lower extremity deep venous thrombosis in Chinese neurosurgical patients

    Directory of Open Access Journals (Sweden)

    Fuyou Guo

    2015-01-01

    Full Text Available Background: Deep venous thrombosis (DVT contributes significantly to the morbidity and mortality of neurosurgical patients; however, no data regarding lower extremity DVT in postoperative Chinese neurosurgical patients have been reported. Materials and Methods: From January 2012 to December 2013, 196 patients without preoperative DVT who underwent neurosurgical operations were evaluated by color Doppler ultrasonography and D-dimer level measurements on the 3rd, 7th, and 14th days after surgery. Follow-up clinical data were recorded to determine the incidence of lower extremity DVT in postoperative neurosurgical patients and to analyze related clinical features. First, a single factor analysis, Chi-square test, was used to select statistically significant factors. Then, a multivariate analysis, binary logistic regression analysis, was used to determine risk factors for lower extremity DVT in postoperative neurosurgical patients. Results: Lower extremity DVT occurred in 61 patients, and the incidence of DVT was 31.1% in the enrolled Chinese neurosurgical patients. The common symptoms of DVT were limb swelling and lower extremity pain as well as increased soft tissue tension. The common sites of venous involvement were the calf muscle and peroneal and posterior tibial veins. The single factor analysis showed statistically significant differences in DVT risk factors, including age, hypertension, smoking status, operation time, a bedridden or paralyzed state, the presence of a tumor, postoperative dehydration, and glucocorticoid treatment, between the two groups (P < 0.05. The binary logistic regression analysis showed that an age greater than 50 years, hypertension, a bedridden or paralyzed state, the presence of a tumor, and postoperative dehydration were risk factors for lower extremity DVT in postoperative neurosurgical patients. Conclusions: Lower extremity DVT was a common complication following craniotomy in the enrolled Chinese neurosurgical

  9. Combination therapy analysis of ezetimibe and statins in Chinese patients with acute coronary syndrome and type 2 diabetes

    OpenAIRE

    Li, Lulu; Zhang, Minli; Su, Fuxiang; LI Yang; SHEN, YALI; Shen, Jie; Zhang, Daqing

    2015-01-01

    Background Dyslipidemia management situation in Chinese patients with high risk and very high risk has been demonstrated very low, despite the wide use of statins. The effects and safety of the combined treatment of ezetimibe (EZ) and statins in Chinese patients with acute coronary syndrome (ACS) and type 2 diabetes mellitus (T2DM) remain unknown. Methods Chinese Patients with ACS and T2DM were divided into the statins group (n = 40) and the combination group of EZ and statins (n = 44). In or...

  10. Celiac Disease Autoimmunity in Patients with Autoimmune Diabetes and Thyroid Disease among Chinese Population

    Science.gov (United States)

    Zhao, Zhiyuan; Zou, Jing; Zhao, Lingling; Cheng, Yan; Cai, Hanqing; Li, Mo; Liu, Edwin; Yu, Liping; Liu, Yu

    2016-01-01

    The prevalence of celiac disease autoimmunity or tissue transglutaminase autoantibodies (TGA) amongst patients with type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) in the Chinese population remains unknown. This study examined the rate of celiac disease autoimmunity amongst patients with T1D and AITD in the Chinese population. The study included 178 patients with type 1 diabetes and 119 with AITD where 36 had both T1D and AITD, classified as autoimmune polyglandular syndrome type 3 variant (APS3v). The study also included 145 patients with type 2 diabetes (T2D), 97 patients with non-autoimmune thyroid disease (NAITD), and 102 healthy controls. Serum islet autoantibodies, thyroid autoantibodies and TGA were measured by radioimmunoassay. TGA positivity was found in 22% of patients with either type 1 diabetes or AITD, much higher than that in patients with T2D (3.4%; pdiseases were present. Routine TGA screening in patients with T1D or AITD will be important to early identify celiac disease autoimmunity for better clinical care of patients. PMID:27427767

  11. Characteristics of Agraphia in Chinese Patients with Alzheimer's Disease and Amnestic Mild Cognitive Impairment

    Science.gov (United States)

    Zhou, Jiong; Jiang, Biao; Huang, Xian-Hong; Kong, Lin-Lin; Li, Hong-Lei

    2016-01-01

    Background: Patients with Alzheimer's disease (AD) manifest progressive decline in writing abilities. Most studies on agraphia in AD have been performed in the alphabetic system, such as English. However, these findings may not be applicable to other written language systems. The unique features of the Chinese written script could affect the patterns of agraphia in Chinese AD patients. The aim of this study was to explore the features of writing errors in Chinese patients with AD and amnestic mild cognitive impairment (a-MCI), as well as to study the relationship between their writing errors and neuropsychological functions. Methods: In this study, we performed an observational study in a group of subjects including 17 AD patients, 14 patients with a-MCI, and 16 elderly healthy controls. We analyzed the writing errors in these subjects and also studied the relationship between their writing errors and neuropsychological functions. Results: Our study showed that in patients whose mother tongue is Chinese, writing ability was comparatively well preserved in the MCI phase but significantly impaired when the disease progressed to the stage of AD. The writing errors showed corresponding increase with the severity of cognition decline, both in the types of errors and rate of occurrence. Analysis of the writing errors showed that word substitution and unintelligible words were the most frequent error types that occurred in all the three study groups. The occurrence rate of unintelligible words was significantly higher in the AD group compared with the a-MCI group (P = 0.024) and control group (P = 0.018). In addition, the occurrence rates of word substitution were also significantly higher in AD (P = 0.013) and a-MCI groups (P = 0.037) than that of control group. However, errors such as totally no response, visuospatial impairment, paragraph agraphia, ideograph, and perseverative writing errors were only seen in AD group. Besides, we also found a high occurrence rate of

  12. Social cognition and interaction training for patients with stable schizophrenia in Chinese community settings.

    Science.gov (United States)

    Wang, Yongguang; Roberts, David L; Xu, Baihua; Cao, Rifang; Yan, Min; Jiang, Qiongping

    2013-12-30

    Accumulated evidence suggests that Social Cognition and Interaction Training (SCIT) is associated with improved performance in social cognition and social skills in patients diagnosed with psychotic disorders. The current study examined the clinical utility of SCIT in patients with schizophrenia in Chinese community settings. Adults with stable schizophrenia were recruited from local community health institutions, and were randomly assigned to SCIT group (n = 22) or a waiting-list control group (n = 17). The SCIT group received the SCIT intervention plus treatment-as-usual, whereas the waiting-list group received only treatment-as-usual during the period of the study. All patients were administered the Chinese versions of the Personal and Social Performance Scale (PSP), Face Emotion Identification Task (FEIT), Eyes task, and Attributional Style Questionnaire (ASQ) at baseline of the SCIT treatment period and at follow-up, 6 months after completion of the 20-week treatment period. Patients in SCIT group showed a significant improvement in the domains of emotion perception, theory of mind, attributional style, and social functioning compared to those in waiting-list group. Findings indicate that SCIT is a feasible and promising method for improving social cognition and social functioning among Chinese outpatients with stable schizophrenia. PMID:24018268

  13. Computed tomographic cephalometric analysis of chinese patients with obstructive sleep apnoea

    International Nuclear Information System (INIS)

    Variations of craniofacial and upper airway structures are recognized to contribute to the phenomenon of obstructive sleep apnoea (OSA). Most previous cephalometric studies were performed using erect lateral radiographs in Caucasian patients. The present project aims to determine cephalometric measurements, utilizing CT, in normal Chinese subjects and in Chinese patients with OSA. Computed tomography of 25 patients with OSA (proven using overnight polysomnography), and of 25 age-, sex-, height-, bodyweight- and body mass index (BMI)-matched control subjects were prospectively performed. Thirteen standard bony and soft-tissue measurements were obtained from the CT lateral scout view of the head and neck, taken with each subject in the neutral supine position. The cross-sectional area was calculated at two axial levels (velopharynx and hypopharynx). The measurements in the two groups, OSA and control subjects, were compared. The measurements for hyoid position (P=0.00), nasal cavity length (P=0.01), mandibular prognathism (P = 0.05), tongue size (P = 0.02), oropharyngeal airway space (P = 0.02), posterior tongue airway space (P = 0.04) and cross-sectional areas at the level of the velopharynx (P = 0.00) and hypopharynx (P = 0.01) differed significantly between the two groups. In conclusion, CT cephalometric measurements show that certain anatomical variations in the head and neck are likely to contribute to the pathogenesis of OSA in Chinese patients. Copyright (1999) Blackwell Science Pty Ltd

  14. Role of capecitabine in treating metastatic colorectal cancer in Chinese patients

    Directory of Open Access Journals (Sweden)

    Wang F

    2014-04-01

    Full Text Available Feng Wang,* Feng-Hua Wang,* Long Bai, Rui-Hua XuDepartment of Medical Oncology, Sun Yat-sen University Cancer Center, Guangzhou, People's Republic of China *These authors contributed equally to this workAbstract: The China Food and Drug Administration approved the use of capecitabine in patients with metastatic colorectal cancer (mCRC in 2004. This paper reviews the available information of capecitabine in Chinese patients with mCRC, focusing on its effectiveness and safety against mCRC. Identification of all eligible studies was made by searching the PubMed and Wanfang database from 2000 to 2013. Published data examining various aspects of clinical response and tolerability with capecitabine alone or in combination with other chemotherapeutic or biological agents for first- and second-line mCRC were examined. Capecitabine and its combination displayed high efficacy in Chinese patients with mCRC. Toxicities are generally manageable, and elderly patients can tolerate capecitabine well.Keywords: capecitabine, metastatic colorectal cancer, Chinese

  15. Adaptation of Individual Meaning-Centered Psychotherapy for Chinese Immigrant Cancer Patients | Division of Cancer Prevention

    Science.gov (United States)

    The purpose of the study is to modify a type of counseling called "Individual Meaning Centered Psychotherapy" to meet the needs of Chinese cancer patients. Many cancer patients use counseling or other resources to help cope with the emotional burden of their illnesses. Counseling often helps them cope with cancer by giving them a place to express their feelings. "Meaning-Centered" counseling aims to teach cancer patients how to maintain or even increase a sense of meaning and purpose in their lives, despite cancer. |

  16. Relationship between Various Chinese Medicine Types and T-cell Subsets in Patients with Ulcerative Colitis

    Institute of Scientific and Technical Information of China (English)

    常廷民; 李秀敏; 赵习德

    2009-01-01

    Objective:To investigate the relationship between various Chinese medicine(CM) types and T-cell subsets(CD4~+ and CD8~+) in the colonic mucous membranes of patients with ulcerative colitis(UC).Methods: Fifty UC patients were enrolled,after differentiation into four types by CM syndromes,i.e.,the internal heat-damp accumulation type(IHDA),the qi-stagnancy with blood stasis type(QSBS),the Pi(脾)-Shen(肾) yang-deficiency type(PSYD) and the yin-blood deficiency type(YBD).From every patient,3-5 pieces of intest...

  17. Rare ligamentum flavum cyst causing incapacitating lumbar spinal stenosis: Experience with 3 Chinese patients

    Directory of Open Access Journals (Sweden)

    Cheung Kai-Yin

    2010-11-01

    Full Text Available Abstract Three Chinese patients suffered from severe lumbar spinal stenosis with debilitating symptoms due to a rare condition of ligamentum flavum cysts in the midline of the lumbar spine. This disease is distinct from synovial cyst of the facet joints or ganglion cysts, both intraoperatively and histopathologically. Magnetic Resonance imaging features of the ligamentum flavum cyst are also demonstrated. We share our surgical experiences of identification of the ligamentum flavum cysts, decompression and excision for two of the patients with demonstrably good recovery. This disease should be considered in the differential diagnosis of an extradural instraspinal mass in patients with lumbar spinal stenosis.

  18. Early and late outcomes in Hong Kong Chinese patients undergoing carotid endarterectomy

    Institute of Scientific and Technical Information of China (English)

    丁志伟; 郑永强; 钟培言; 何蓓; 邬丽霞; 张颂恩

    2002-01-01

    Objective To determine the benefit of carotid endarterectomy (CEA) for stroke prevention by reviewing the early and late outcomes of Hong Kong Chinese patients undergoing CEA who have a high reported incidence of intracranial atherosclerotic disease (IAD).Methods Fifty-nine Chinese patients underwent 62 CEA. There were 48 males and 11 females, with a mean age of 70±7 years (range: 52-86 years). Twenty-one CEA (34%) were performed for asymptomatic disease. Duplex scan was the primary tool of evaluation prior to surgery. Preoperative angiography was done in 36 instances (58%). All CEA were performed under general anaesthesia with routine intraoperative shunting. The arteriotomy was closed primarily in all patients except three. Patients were followed up regularly with six-monthly Duplex scan surveillance.Results There were 2 perioperative neurological events consisting of one transient ischemic attack and one minor stroke. There was no operative mortality or major morbidity such as bleeding or cranial nerve injury. Mean hospital stay was 6.5±4 days (range: 3-26 days). The patients were followed up for a mean interval of 24±17 months (range: 1-57 months). Seven patients died during follow-up and subsequent neurological events occurred in 5 patients, including 2 fatal strokes. The 3-year survival, freedom from stroke and stroke free survival were 86%, 87% and 83%, respectively. One recurrent stenosis of 80% was detected on follow-up Duplex scan.Conclusions Despite a high incidence of IAD, CEA in Hong Kong Chinese patients is associated with acceptable perioperative morbidity and mortality with satisfactory long-term efficacy in stroke prevention.

  19. Molecular genetic study of Han nationality dopa-responsive dystonia in three Chinese families%汉族多巴敏感性肌张力障碍三个家系的分子遗传学研究

    Institute of Scientific and Technical Information of China (English)

    张社卿; 郑惠民; 谢惠君; 任大明; 林大宇

    2004-01-01

    背景:多巴敏感性肌张力障碍(dopa-responsive dystonia,DRD)的基本病因为遗传的缺陷,自1990年以来,中国有关本病的临床报道已有40余例,但相关的分子遗传研究报道较少.目的:分析国人DRD患者发病与三磷酸鸟苷环化水解酶1(GCH-1)基因突变的关系.设计:典型调查.地点和对象:来自3个家庭的5例于2000-10/2001-07在解放军第二军医大学长海医院神经内科确诊的DRD患者及其亲属共12个成员.方法:经静脉采血2 mL,常规提取基因组DNA,以PCR扩增GCH-1基因,反应产物用自动DNA测序仪直接测序.主要观察指标:三个家系中是否有基因突变.结果:在A家系,先证者母亲为正常个体,基因测序显示无基因突变,其中3例患病个体DNA测序发现第2个外显子142号碱基由鸟嘌呤转换为腺嘌呤(G→A),导致半胱氨酸被替换为酪氨酸;估计其突变基因来自已故父系一方.在B家庭,先证者第一个外显子71号碱基由胸腺嘧啶转换为胞嘧啶(T→C),导致亮氨酸被替换为脯氨酸;而其父母及弟均为正常个体.C家庭无GCH-1基因突变.结论:GCH-1基因突变只是部分DRD患者的发病原因.%BACKGROUND: The basic cause of Dopa-responsive dystonia(DRD) is the genetic defect. Since 1990, the clinical reports about this disease in China have already been more than 40, however, research about the molecular genetics of this disease is rarely.OBJECTIVE: To analyze the relationship between Chinese DRD onset and gene mutation of guanosine triphosphate cyclohydrolase 1 (GCH-1 ).DESIGN: Typical investigation,SETTING and PARTICIPANTS: Five patients with DRD, 2000 - 10/2001 -07 in Changhai Hospital of the Second Military Hospital of Chinese PLA, and their families, totally 12 members from 3 families, were involved in this research.METHODS: Venous blood(2 mL) was drawn and genomic DNA was extracted by standard technique. GCH-1 genes were amplified by PCR, and reaction products were directly sequenced

  20. DVL2基因多态性与中国汉族人群先天性脊柱侧凸遗传易感性的关联研究%Association of DVL2 gene polymorphisms with susceptibility to congenital scoliosis in a Chinese Han population

    Institute of Scientific and Technical Information of China (English)

    费琦; 吴志宏; 王以朋; 周熹; 王海; 李想; 邱贵兴

    2011-01-01

    BACKGROUND: In recent 20 years, mouse molecular embryology research has achieved much molecular information regardingvertebrae development. It is possible to determine the candidate gene for congenital scoliosis (CS) using linear analysis.OBJECTIVE: To investigate the association of DVL2 polymorphisms with CS clinical phenotypes in a Chinese Han population byscreening key single nucleotide polymorphism sites of candidate gene DVL2.METHODS: A case-control design was applied in this study. A total of 127 patients diagnosed with CS and 127 scoliosis-freecontrol subjects were enrolled in this study. According to genotype data from International HapMap project, the key singlenucleotide polymorphisms (SNPs) of DVL2 were initially selected using Haploview 4.1 software. The patient group was classifiedinto different clinical phenotypes according to vertebral defect type, deformity location, defect degree, combined rib malformationsand neural canal deformity. All selected SNPs were genotype identified using SNPstream UHT Genotyping system. Anassociation analysis based on genotype/allele frequency was further performed. Pairwised linkage disequilibrium was evaluatedin the control group using Haploview 4.1 software.RESULTS AND CONCLUSION: Five SNPs of DVL2 gene were genotyped: SNP1 (rs2074222), SNP2 (rs222837), SNP3(rs222835), SNP4 (rs10671352) and SNP5 (rs222836), and all polymorphisms were in Hardy-Weinberg equilibrium both incontrol and in patient groups. Five SNPs were in linkage disequilibrium. No association (P > 0.05) was observed between SNPgenotypes/allele polymorphisms/haploid and CS risk and clinical phenotypes. Results showed that genetic variants of DVL2 genemay not be associated with the susceptibility to CS and different clinical phenotypes of CS in a Chinese Han population.%背景:近20年来小鼠的分子胚胎学研究进展获得了大量关于脊椎发育的分子信息,用同线性分析法确立先天性脊柱侧凸的候选基因已成为可

  1. Composition of common bile duct stones in Chinese patients during and after endoscopic sphincterotomy

    Institute of Scientific and Technical Information of China (English)

    Wei-Lun Tsai; Kwok-Hung Lai; Chiun-Ku Lin; Hoi-Hung Chan; Ching-Chu Lo; Ping-I Hsu; Wen-Chi Chen; Jin-Shiung Cheng; Gin-Ho Lo

    2005-01-01

    AIM: Endoscopic sphincterotomy (ES) is a well-established therapeutic modality for the removal of common bile duct (CBD) stones. After ES there are still around 10% of patients that experience recurrent CBD stones. The aim of this study is to investigate the composition of CBD stones before and after ES and its clinical significance in Chinese patients.METHODS: From January 1996 to December 2003, 735Veterans General Hospital and stone specimens from 266patients were sent for analysis. Seventy-five patients had recurrent CBD stones and stone specimens from 44patients were sent for analysis. The composition of the stones was analyzed by infrared (IR) spectrometry and they were classified as cholesterol or bilirubinate stones according to the predominant composition. Clinical data were analyzed.RESULTS: In the initial 266 stone samples, 217 (82%)were bilirubinate stones, 42 (16%) were cholesterol stones,3 were calcium carbonate stones, 4 were mixed cholesterol and bilirubinate stones. Patients with bilirubinate stones were significantly older than patients with cholesterol stones (66±13 years vs 56±17 years, P= 0.001). In the 44 recurrent stone samples, 38 (86%) were bilirubinate stones, 3 (7%) were cholesterol stones, and 3 were mixed cholesterol and bilirubinate stones. In 27 patients, bothinitial and recurrent stone specimens can be obtained,23 patients had bilirubinate stones initially and 2 became cholesterol stones in the recurrent attack. In the four patients with initial cholesterol stones, three patients had bilirubinate stones and one patient had a cholesterol stone in the recurrent attack.CONCLUSION: Bilirubinate stone is the predominant composition of initial or recurrent CBD stone in Chinese patients. The composition of CBD stones may be different from initial stones after ES.

  2. Chinese female breast cancer patients show a better overall survival than their male counterparts

    Institute of Scientific and Technical Information of China (English)

    XIA Liang-ping; ZHOU Fei-fei; GUO Gui-fang; WANG Fang; WANG Xi; YUAN Zhong-yu; ZHANG Bei

    2010-01-01

    Backgroud It is not clear if there is a difference in prognosis between male breast cancer (MBC) and female breast cancer (FBC) patients. The aim of this study was to compare the prognosis of MBC and FBC patients in China and the prognosis of MBC and their corresponding postmenopausal FBC patients.Methods Thirty-five MBC patients who were treated at the Sun Yat-sen University Cancer Center between 1969 and 2004 were enrolled in the study. Seventy FBC patients who were matched with the MBC patients for TNM stage, year of diagnosis, and age at diagnosis were simultaneously enrolled in the study. A second group comprising 18 MBC patients and their corresponding 36 matched postmenopausal FBC patients were also enrolled. The whole group and the postmenopausal groups were compared for five- and ten-year survivals. Results All the factors that could potentially affect prognosis were comparable among the groups except more FBC than MBC patients underwent endocrine therapy and a modified radical mastectomy. The 5- and 10-year survivals in the whole group were 81.6% and 60.3% for men and 90.7% and 73.5% for women (P=0.02). The 5- and 10-year survival in the postmenopausal group was 82.5% and 100% for men and 66.0% and 85.9% for women (P=0.159).Conclusions Chinese FBC patients had a better prognosis than Chinese MBC patients. However, MBC patients and their corresponding postmenopausal FBC patients had a similar prognosis.

  3. Hans Jürman 85 : Hans Jürman: kes ma olen? / Hans Jürman

    Index Scriptorium Estoniae

    Jürman, Hans, 1923-2014

    2010-01-01

    Hans Jürmani lapsepõlvest, kooliaastatest ning ülikooliajast. Olles hariduselt eesti filoloog on Hans Jürman töötanud ka apteekrina ja õpetajana, kuid suurema osa oma elust raamatukogudes, põhiliselt Tallinna Keskraamatukogus ja Eesti NSV Riiklikus Avalikus Raamatukogus, viimasel ajal tegeleb terminoloogiaga

  4. Incidence of Deep Vein Thrombosis in Hospitalized Chinese Medical Patients and the Impact of DVT Prophylaxis

    OpenAIRE

    Wong, Raymond S. M.; Lai Shan Tsang; Pui Kwan Ernest Yeung; Ka Ling Ng; Mei Mei Wong; Yee Fun Choy; Ying Ting Liu; Crystal Chan; Gregory Cheng

    2011-01-01

    Objective. To evaluate the incidence of deep vein thrombosis in hospitalized Chinese medical patients and the impact of DVT prophylaxis. Methods. All cases of confirmed proximal DVT from 1 January 2005 to 31 December 2008 were reviewed retrospectively to determine the presence of risk factors and whether DVT developed: during hospitalization in medical wards or in case of readmission with a diagnosis of DVT within 14 days of discharge from a recent admission to medical wards. The impact of pr...

  5. Genetic and Phenotypic Heterogeneity in Chinese Patients with Waardenburg Syndrome Type II

    OpenAIRE

    Shuzhi Yang; Pu Dai; Xin Liu; Dongyang Kang; Xin Zhang; Weiyan Yang; Chengyong Zhou; Shiming Yang; Huijun Yuan

    2013-01-01

    Waardenburg Syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss and pigmentary abnormalities of the eyes, hair, and skin. Microphthalmia-associated transcription factor (MITF) gene mutations account for about 15% of WS type II (WS2) cases. To date, fewer than 40 different MITF gene mutations have been identified in human WS2 patients, and few of these were of Chinese descent. In this study, we report clinical findings and mutation identification in the ...

  6. Tacrolimus in preventing transplant rejection in Chinese patients – optimizing use

    OpenAIRE

    Li, Chuan-Jiang; Li, Liang

    2015-01-01

    Tacrolimus is a product of fermentation of Streptomyces, and belongs to the family of calcineurin inhibitors. It is a widely used immunosuppressive drug for preventing solid-organ transplant rejection. Compared to cyclosporine, tacrolimus has greater immunosuppressive potency and a lower incidence of side effects. It has been accepted as first-line treatment after liver and kidney transplantation. Tacrolimus has specific features in Chinese transplant patients; its in vivo pharmacokinetics, t...

  7. The experience of admission to psychiatric hospital among Chinese adult patients in Hong Kong

    Directory of Open Access Journals (Sweden)

    Lam Linda

    2008-10-01

    Full Text Available Abstract Background The paper reports on a study to evaluate the psychometric properties and cultural appropriateness of the Chinese translation of