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Sample records for genetic case-control women

  1. IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan.

    Science.gov (United States)

    Miyake, Yoshihiro; Tanaka, Keiko; Arakawa, Masashi

    2011-10-21

    Several genetic association studies have examined the relationships between single nucleotide polymorphisms (SNPs) in the IL13 gene and eczema, and have provided contradictory results. We investigated the relationship between the IL13 SNPs rs1800925 and rs20541 and the risk of eczema in Japanese young adult women. Included were 188 cases who met the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC) for eczema. Control subjects were 1,082 women without eczema according to the ISAAC criteria, who had not been diagnosed with atopic eczema by a doctor and who had no current asthma as defined by the European Community Respiratory Health Survey criteria. Adjustment was made for age, region of residence, number of children, smoking, and education. The minor TT genotype of SNP rs1800925 was significantly associated with an increased risk of eczema in the co-dominant model: the adjusted odds ratio was 2.19 (95% confidence interval: 1.03-4.67). SNP rs20541 was not related to eczema. None of the haplotypes were significantly associated with eczema. Compared with women with the CC or CT genotype of SNP rs1800925 who had never smoked, those with the TT genotype who had ever smoked had a 2.85-fold increased risk of eczema, though the adjusted odds ratio was not statistically significant, and neither multiplicative nor additive interaction was statistically significant. Our findings suggest that the IL13 SNP rs1800925 is significantly associated with eczema in Japanese young adult women. We could not find evidence for an interaction between SNP rs1800925 and smoking with regard to eczema.

  2. IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

    Directory of Open Access Journals (Sweden)

    Arakawa Masashi

    2011-10-01

    Full Text Available Abstract Background Several genetic association studies have examined the relationships between single nucleotide polymorphisms (SNPs in the IL13 gene and eczema, and have provided contradictory results. We investigated the relationship between the IL13 SNPs rs1800925 and rs20541 and the risk of eczema in Japanese young adult women. Methods Included were 188 cases who met the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC for eczema. Control subjects were 1,082 women without eczema according to the ISAAC criteria, who had not been diagnosed with atopic eczema by a doctor and who had no current asthma as defined by the European Community Respiratory Health Survey criteria. Adjustment was made for age, region of residence, number of children, smoking, and education. Results The minor TT genotype of SNP rs1800925 was significantly associated with an increased risk of eczema in the co-dominant model: the adjusted odds ratio was 2.19 (95% confidence interval: 1.03-4.67. SNP rs20541 was not related to eczema. None of the haplotypes were significantly associated with eczema. Compared with women with the CC or CT genotype of SNP rs1800925 who had never smoked, those with the TT genotype who had ever smoked had a 2.85-fold increased risk of eczema, though the adjusted odds ratio was not statistically significant, and neither multiplicative nor additive interaction was statistically significant. Conclusions Our findings suggest that the IL13 SNP rs1800925 is significantly associated with eczema in Japanese young adult women. We could not find evidence for an interaction between SNP rs1800925 and smoking with regard to eczema.

  3. IL13 genetic polymorphisms, smoking, and eczema in women: a case-control study in Japan

    OpenAIRE

    Arakawa Masashi; Tanaka Keiko; Miyake Yoshihiro

    2011-01-01

    Abstract Background Several genetic association studies have examined the relationships between single nucleotide polymorphisms (SNPs) in the IL13 gene and eczema, and have provided contradictory results. We investigated the relationship between the IL13 SNPs rs1800925 and rs20541 and the risk of eczema in Japanese young adult women. Methods Included were 188 cases who met the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC) for eczema. Control subjects were 1,...

  4. Genetic polymorphisms of XRCC1 (codon 399) and susceptibility to breast cancer in Iranian women, a case-control study.

    Science.gov (United States)

    Saadat, Mostafa; Kohan, Leila; Omidvari, Shahpour

    2008-10-01

    The X-ray repair cross-complementation group 1 (XRCC1) protein plays an important role in base excision repair. In the present study, we specifically investigated whether common genetic variant in XRCC1 (exon 10, codon Arg399Gln) was associated with an altered risk of breast cancer. The eligible cases were patients at chemotherapy unit of Nemazi hospital, Shiraz Iran, from October 1999 to August 2000 and from July 2004 to July 2005. The present study included 186 females with breast cancer. Age frequency-matched controls were randomly selected from the healthy females blood donor, according to the age distribution of the cases. A total of 187 healthy females included in the study. Using PCR-based method, the XRCC1 Arg399Gln polymorphism was determined. In control group the 399Gln allele frequency was 32.6%. The genotypic frequencies of the control subjects did not show significant deviation from Hardy-Weinberg equilibrium (chi(2) = 1.683, df = 1, P > 0.05). A statistically significant association was observed in comparison between Gln/Gln and Arg/Arg genotype (OR = 2.01, 95% CI:1.02-3.94, P = 0.041). There was no linear trend for presence of 0, 1, and 2 of the 399Gln allele and risk of breast cancer (chi(2) = 1.212, P = 0.271). In the recessive effect of the Gln allele (comparison between Gln/Gln vs. Arg/Arg+Arg/Gln), Gln/Gln genotype significantly increased the risk of breast cancer (OR = 2.31, 95% CI:1.21-4.35, P = 0.010). In the dominant effect of the Gln allele (comparison between Gln/Gln+Arg/Gln vs. Arg/Arg), Gln/Gln+Arg/Gln genotypes was not associated with the risk of breast cancer (OR = 0.95, 95% CI:0.63-1.42, P = 0.799). It is concluded that 399Gln allele may act as a recessive allele and increase the breast cancer risk.

  5. Risk factors for syphilis in women: case-control study

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    Vilma Costa de Macêdo

    2017-08-01

    Full Text Available ABSTRACT OBJECTIVE To determine the sociodemographic, behavioral, and health care factors related to the occurrence of syphilis in women treated at public maternity hospitals. METHODS This is a case-control study (239 cases and 322 controls with women admitted to seven maternity hospitals in the municipality of Recife, Brazil, from July 2013 to July 2014. Eligible women were recruited after the result of the VDRL (Venereal Disease Research Laboratory under any titration. The selection of cases and controls was based on the result of the serology for syphilis using ELISA (enzyme-linked immunosorbent assay. The independent variables were grouped into: sociodemographic, behavioral, clinical and obstetric history, and health care in prenatal care and maternity hospital. Information was obtained by interview, during hospitalization, with the application of a questionnaire. Odds ratios and 95% confidence intervals were estimated using logistic regression to identify the predicting factors of the variable to be explained. RESULTS The logistic regression analysis identified as determinant factors for gestational syphilis: education level of incomplete basic education or illiterate (OR = 2.02, lack of access to telephone (OR = 2.4, catholic religion (OR = 1.70 , four or more pregnancies (OR = 2.2, three or more sexual partners in the last year (OR = 3.1, use of illicit drugs before the age of 18 (OR = 3.0, and use of illicit drugs by the current partner (OR = 1.7. Only one to three prenatal appointments (OR = 3.5 and a previous history of sexually transmitted infection (OR = 9.7 were also identified as determinant factors. CONCLUSIONS Sociodemographic, behavioral, and health care factors are associated with the occurrence of syphilis in women and should be taken into account in the elaboration of universal strategies aimed at the prevention and control of syphilis, but with a focus on situations of greater vulnerability.

  6. Risk factors for syphilis in women: case-control study

    Science.gov (United States)

    de Macêdo, Vilma Costa; de Lira, Pedro Israel Cabral; de Frias, Paulo Germano; Romaguera, Luciana Maria Delgado; Caires, Silvana de Fátima Ferreira; Ximenes, Ricardo Arraes de Alencar

    2017-01-01

    ABSTRACT OBJECTIVE To determine the sociodemographic, behavioral, and health care factors related to the occurrence of syphilis in women treated at public maternity hospitals. METHODS This is a case-control study (239 cases and 322 controls) with women admitted to seven maternity hospitals in the municipality of Recife, Brazil, from July 2013 to July 2014. Eligible women were recruited after the result of the VDRL (Venereal Disease Research Laboratory) under any titration. The selection of cases and controls was based on the result of the serology for syphilis using ELISA (enzyme-linked immunosorbent assay). The independent variables were grouped into: sociodemographic, behavioral, clinical and obstetric history, and health care in prenatal care and maternity hospital. Information was obtained by interview, during hospitalization, with the application of a questionnaire. Odds ratios and 95% confidence intervals were estimated using logistic regression to identify the predicting factors of the variable to be explained. RESULTS The logistic regression analysis identified as determinant factors for gestational syphilis: education level of incomplete basic education or illiterate (OR = 2.02), lack of access to telephone (OR = 2.4), catholic religion (OR = 1.70 ), four or more pregnancies (OR = 2.2), three or more sexual partners in the last year (OR = 3.1), use of illicit drugs before the age of 18 (OR = 3.0), and use of illicit drugs by the current partner (OR = 1.7). Only one to three prenatal appointments (OR = 3.5) and a previous history of sexually transmitted infection (OR = 9.7) were also identified as determinant factors. CONCLUSIONS Sociodemographic, behavioral, and health care factors are associated with the occurrence of syphilis in women and should be taken into account in the elaboration of universal strategies aimed at the prevention and control of syphilis, but with a focus on situations of greater vulnerability. PMID:28832758

  7. Violence against Women and Gastroschisis: A Case-Control Study

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    Daniel Ruiz

    2013-10-01

    Full Text Available Background: Gastroschisis, a birth defect characterized by herniated fetal abdominal wall, occurs more commonly in infants born to teenage and young mothers. Ischemia of the vascular vitelline vessels is the likely mechanism of pathogenesis. Given that chronic stress and violence against women are risk factors for cardiovascular disease we explored whether these may represent risk factors for gastroschisis, when they occur during pregnancy. A case-control study was conducted, with 15 incident cases of children born with gastroschisis in the Region of Murcia, Spain, from December 2007 to June 2013. Forty concurrent controls were recruited at gestation weeks 20–24 or post-partum. All mothers of cases and controls completed a comprehensive, in-person, ‘green sheet’ questionnaire on environmental exposures. Results: Mothers of children with gastroschisis were younger, smoked more cigarettes per week relative to controls, were exposed to higher amounts of illegal drugs, and suffered from domestic violence more frequently than the controls. Multivariable logistic regression analysis highlights periconceptional ‘gender-related violence’ (OR: 16.6, 95% CI 2.7 to 101.7 and younger maternal age (OR 1.1, 95% CI 1.0–1.3. Conclusions: Violence against pregnant women is associated with birth defects, and should be studied in more depth as a cause-effect teratogenic. Psychosocial risk factors, including gender-based violence, are important for insuring the health and safety of the pregnant mother and the fetus.

  8. Case control study of Electrocardiographic changes in pregnant women

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    Sharddha Singh

    1995-09-01

    Full Text Available Pregnancy causes significant haemodynamic changes and imposes stress on the cardiovascular system. Many healthy women develop signs and symptoms of cardiovascular overload during pregnancy. Knowledge of established normal changes in EKG during normal pregnancy is important. The aim of our study was to detect any early damage to myocardium during pregnancy with the help of electrocardiography. Total of 20 pregnant and 20 non pregnant women were studied. The most significant change observed in ECG was T wave inversion with odds ratio 7.43 (95%. Cl = 1.49 to 41.00. P= 0.005. Stratified analysis showed that there was no confounding role of age in the relationship of T wave inversion and ECG findings. Moreover, a significant relationship between anaemia and T wave inversion was also observed. (0=1.74 ■ 1101.06; P= 0.007.

  9. Putative periodontopathic bacteria and herpesviruses in pregnant women: a case-control study

    OpenAIRE

    Lu, Haixia; Zhu, Ce; Li, Fei; Xu, Wei; Tao, Danying; Feng, Xiping

    2016-01-01

    Little is known about herpesvirus and putative periodontopathic bacteria in maternal chronic periodontitis. The present case-control study aimed to explore the potential relationship between putative periodontopathic bacteria and herpesviruses in maternal chronic periodontitis.Saliva samples were collected from 36 pregnant women with chronic periodontitis (cases) and 36 pregnant women with healthy periodontal status (controls). Six putative periodontopathic bacteria (Porphyromonas gingivalis ...

  10. Multilocus Heterozygosity and Coronary Heart Disease: Nested Case-Control Studies in Men and Women

    DEFF Research Database (Denmark)

    Mukamal, Kenneth J.; Jensen, Majken K.; Pers, Tune Hannes

    2015-01-01

    genome scans in parallel case-control studies of coronary heart disease (CHD) nested in the Health Professionals Follow-up Study and Nurses' Health Study. We examined ∼ 700,000 single nucleotide polymorphisms (SNPs) in 435 men with incident CHD and 878 matched controls and 435 women with incident CHD...... to risk of CHD in either men or women (adjusted odds ratios per 2000 heterozygous SNPs 1.01 [95% confidence interval, 0.91-1.13] in women and 0.94 [0.84-1.06] in men). We also found no consistent associations of genome-wide heterozygosity with levels of lipids, inflammatory markers, adhesion molecules...

  11. Challenges in Recruiting Aging Women Holocaust Survivors to a Case Control Study of Breast Cancer.

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    Vin-Raviv, Neomi; Dekel, Rachel; Barchana, Micha; Linn, Shai; Keinan-Boker, Lital

    2015-01-01

    Older adults are underrepresented in medical research for many reasons, including recruitment difficulties. Recruitment of older adults for research studies is often a time-consuming process and can be more challenging when the study involves older adults with unique exposures to traumatic events and from minority groups. The current article provides a brief overview of (a) challenges encountered while recruiting aging women Holocaust survivors for a case control study and (b) strategies used for meeting those challenges. The case group comprised women Holocaust survivors who were recently diagnosed with breast cancer and the control group comprised healthy women from a Holocaust-survivor community in Israel. Copyright 2015, SLACK Incorporated.

  12. Women with learning disabilities and access to cervical screening: retrospective cohort study using case control methods

    Science.gov (United States)

    Reynolds, Fiona; Stanistreet, Debbi; Elton, Peter

    2008-01-01

    Background Several studies in the UK have suggested that women with learning disabilities may be less likely to receive cervical screening tests and a previous local study in had found that GPs considered screening unnecessary for women with learning disabilities. This study set out to ascertain whether women with learning disabilities are more likely to be ceased from a cervical screening programme than women without; and to examine the reasons given for ceasing women with learning disabilities. It was carried out in Bury, Heywood-and-Middleton and Rochdale. Methods Carried out using retrospective cohort study methods, women with learning disabilities were identified by Read code; and their cervical screening records were compared with the Call-and-Recall records of women without learning disabilities in order to examine their screening histories. Analysis was carried out using case-control methods – 1:2 (women with learning disabilities: women without learning disabilities), calculating odds ratios. Results 267 women's records were compared with the records of 534 women without learning disabilities. Women with learning disabilities had an odds ratio (OR) of 0.48 (Confidence Interval (CI) 0.38 – 0.58; X2: 72.227; p.value learning disabilities. Conclusion The reasons given for ceasing and/or not screening suggest that merely being coded as having a learning disability is not the sole reason for these actions. There are training needs among smear takers regarding appropriate reasons not to screen and providing screening for women with learning disabilities. PMID:18218106

  13. Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study

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    Wozniak Marcella A

    2009-12-01

    Full Text Available Abstract Background Population-based association studies are used to identify common susceptibility variants for complex genetic traits. These studies are susceptible to confounding from unknown population substructure. Here we apply a model-based clustering approach to our case-control study of stroke among young women to examine if self-reported ethnicity can serve as a proxy for genetic ancestry. Findings A population-based case-control study of stroke among women aged 15-49 identified 361 cases of first ischemic stroke and 401 age-comparable control subjects. Thirty single nucleotide polymorphisms (SNPs throughout the genome unrelated to stroke risk and with established ancestry-based allele frequency differences were genotyped in all participants. The Structure program was used to iteratively evaluate for K = 1 to 5 potential genetic-based subpopulations. Evaluating the population as a whole, the Structure output plateaued at K = 2 clusters. 98% of self-reported Caucasians had an estimated probability ≥50% of belonging to Cluster 1, while 94% of self-reported African-Americans had an estimated probability ≥50% of belonging to Cluster 2. Stratifying the participants by self-reported ethnicity and repeating the analyses revealed the presence of two clusters among Caucasians, suggesting that potential substructure may exist. Conclusions Among our combined sample of African-American and Caucasian participants there is no large unknown subpopulation and self-reported ethnicity can serve as a proxy for genetic ancestry. Ethnicity-specific analyses indicate that population substructure may exist among the Caucasian participants indicating that further studies are warranted.

  14. Women with learning disabilities and access to cervical screening: retrospective cohort study using case control methods

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    Stanistreet Debbi

    2008-01-01

    Full Text Available Abstract Background Several studies in the UK have suggested that women with learning disabilities may be less likely to receive cervical screening tests and a previous local study in had found that GPs considered screening unnecessary for women with learning disabilities. This study set out to ascertain whether women with learning disabilities are more likely to be ceased from a cervical screening programme than women without; and to examine the reasons given for ceasing women with learning disabilities. It was carried out in Bury, Heywood-and-Middleton and Rochdale. Methods Carried out using retrospective cohort study methods, women with learning disabilities were identified by Read code; and their cervical screening records were compared with the Call-and-Recall records of women without learning disabilities in order to examine their screening histories. Analysis was carried out using case-control methods – 1:2 (women with learning disabilities: women without learning disabilities, calculating odds ratios. Results 267 women's records were compared with the records of 534 women without learning disabilities. Women with learning disabilities had an odds ratio (OR of 0.48 (Confidence Interval (CI 0.38 – 0.58; X2: 72.227; p.value X2: 24.236; p.value X2: 286.341; p.value Conclusion The reasons given for ceasing and/or not screening suggest that merely being coded as having a learning disability is not the sole reason for these actions. There are training needs among smear takers regarding appropriate reasons not to screen and providing screening for women with learning disabilities.

  15. PedGenie: meta genetic association testing in mixed family and case-control designs

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    Allen-Brady Kristina

    2007-11-01

    Full Text Available Abstract Background- PedGenie software, introduced in 2006, includes genetic association testing of cases and controls that may be independent or related (nuclear families or extended pedigrees or mixtures thereof using Monte Carlo significance testing. Our aim is to demonstrate that PedGenie, a unique and flexible analysis tool freely available in Genie 2.4 software, is significantly enhanced by incorporating meta statistics for detecting genetic association with disease using data across multiple study groups. Methods- Meta statistics (chi-squared tests, odds ratios, and confidence intervals were calculated using formal Cochran-Mantel-Haenszel techniques. Simulated data from unrelated individuals and individuals in families were used to illustrate meta tests and their empirically-derived p-values and confidence intervals are accurate, precise, and for independent designs match those provided by standard statistical software. Results- PedGenie yields accurate Monte Carlo p-values for meta analysis of data across multiple studies, based on validation testing using pedigree, nuclear family, and case-control data simulated under both the null and alternative hypotheses of a genotype-phenotype association. Conclusion- PedGenie allows valid combined analysis of data from mixtures of pedigree-based and case-control resources. Added meta capabilities provide new avenues for association analysis, including pedigree resources from large consortia and multi-center studies.

  16. Outcomes for Women with Gestational Diabetes Treated with Metformin: A Retrospective, Case-Control Study

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    Rachel T. McGrath

    2018-03-01

    Full Text Available Metformin is increasingly being used a therapeutic option for the management of gestational diabetes mellitus (GDM. The aim of this study was to compare the maternal characteristics and perinatal outcomes of women with GDM treated with metformin (with or without supplemental insulin with those receiving other management approaches. A retrospective, case-control study was carried out and 83 women taking metformin were matched 1:1 with women receiving insulin or diet and lifestyle modification alone. Women managed with diet and lifestyle modification had a significantly lower fasting plasma glucose (p < 0.001 and HbA1c (p < 0.01 at diagnosis of GDM. Furthermore, women managed with metformin had a higher early pregnancy body mass index (BMI compared to those receiving insulin or diet and lifestyle modification (p < 0.001. There was no difference in mode of delivery, birth weight or incidence of large- or small-for-gestational-age neonates between groups. Women receiving glucose lowering therapies had a higher rate of neonatal hypoglycaemia (p < 0.05. The incidence of other adverse perinatal outcomes was similar between groups. Despite their greater BMI, women with metformin-treated GDM did not have an increased risk of adverse perinatal outcomes. Metformin is a useful alternative to insulin in the management of GDM.

  17. Reproductive life disorders in Italian celiac women. A case-control study

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    Martinelli Domenico

    2010-08-01

    Full Text Available Abstract Background The aim of this study is to explore the association between celiac disease and menstrual cycle, gestation and puerperal disorders. Methods The association between celiac disease and menstrual cycle, gestation and puerperal disorders in a sample of 62 childbearing age women (15-49 age was assessed within an age and town of residence matched case-control study conducted in 2008. Main outcome measures were the presence of one or more disorders in menstrual cycle and the presence of one or more complication during pregnancy. Results 62 celiac women (median age: 31.5, range: 17-49 and 186 healthy control (median age: 32.5, range: 15-49 were interviewed. A higher percentage of menstrual cycle disorders has been observed in celiac women. 19.4% frequency of amenorrhea was reported among celiac women versus 2.2% among healthy controls (OR = 33, 95% CI = 7.17-151.8;, p = 0.000. An association has been observed between celiac disease and oligomenorrhea, hypomenorrhea, dysmenorrhea and metrorrhagia (p Conclusions The occurrence of a significant correlation between celiac disease and reproductive disorders could suggest to consider celiac disease diagnostic procedures (serological screening in women affected by these disorders.

  18. Modified metabolic syndrome and second cancers in women: A case control study.

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    Ortiz-Mendoza, Carlos-Manuel; Pérez-Chávez, Ernesto; Fuente-Vera, Tania-Angélica De-la

    2016-01-01

    According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. To find out the implication of the modified metabolic syndrome in women with second cancers. This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases) and age-matched women with only one neoplasm (controls). The analysis comprised: Tumor (s), anthropometric features, and body mass index (BMI); moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 ) was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1). Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

  19. Modified metabolic syndrome and second cancers in women: A case control study

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    Carlos-Manuel Ortiz-Mendoza

    2016-01-01

    Full Text Available Background: According to some studies, the metabolic syndrome causes diverse primary cancers; however, there is no evidence about metabolic syndrome impact on second cancers development in women. Aim: To find out the implication of the modified metabolic syndrome in women with second cancers. Materials and Methods: This was a case-control study, at a general hospital in Mexico City, in women with second cancers (cases and age-matched women with only one neoplasm (controls. The analysis comprised: Tumor (s, anthropometric features, and body mass index (BMI; moreover, presence of diabetes mellitus, hypertension, and fasting serum levels of total cholesterol, triglycerides and glucose. Results: The sample was of nine cases and 27 controls. In cases, the metabolic syndrome (diabetes mellitus or glucose > 99 mg/dL + hypertension or blood pressure ≥ 135/85 mm Hg + triglycerides > 149 mg/dL or BMI ≥ 30 kg/m 2 was more frequent (odds ratio 20.8, 95% confidence interval: 1.9-227.1. Conclusion: Our results suggest that in women, the modified metabolic syndrome may be a risk factor for second cancers.

  20. Postural changes in women with chronic pelvic pain: a case control study

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    Nogueira Antonio A

    2009-07-01

    Full Text Available Abstract Background Chronic pelvic pain (CPP is a lower abdominal pain lasting at least 6 months, occurring continuously or intermittently and not associated exclusively with menstruation or intercourse. Although the musculoskeletal system has been found to be involved in CPP, few studies have assessed the contribution of posture in women with CPP. We aimed to determine if the frequency of postural changes was higher in women with CPP than healthy subjects. Methods A case-control study included 108 women with CPP of more than 6 months' duration (CPP group who consecutively attended at the Hospital of the University of São Paulo and 48 healthy female volunteers (control group. Postural assessment was noninvasive and performed in the standing position, with the reference points of Kendall used as normal parameters. Factors associated with CPP were assessed by logistic regression analysis. Results Logistic regression showed that the independent factors associated with CPP were postural changes in the cervical spine (OR 4.1; 95% CI 1.6–10.7; p Conclusion Musculoskeletal changes were associated with CPP in 34% of women. These findings suggest that a more detailed assessment of women with CPP is necessary for better diagnosis and for more effective treatment.

  1. Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study.

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    Firouzabadi, Negar; Ghazanfari, Nima; Alavi Shoushtari, Ali; Erfani, Nasrallah; Fathi, Farshid; Bazrafkan, Mozhdeh; Bahramali, Ehsan

    2016-01-01

    Autism is a disease of complex nature with a significant genetic component. The importance of renin-angiotensin system (RAS) elements in cognition and behavior besides the interaction of angiotensin II (Ang II), the main product of angiotensin-converting enzyme (ACE), with neurotransmitters in CNS, especially dopamine, proposes the involvement of RAS in autism. Since the genetic architecture of autism has remained elusive, here we postulated that genetic variations in RAS are associated with autism. Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291) with the level of ACE activity, we have investigated this association with autism, in a case-control study. Genotype and allele frequencies of polymorphisms were determined in DNAs extracted from venous blood of 120 autistic patients and their age and sex-matched healthy controls, using polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) methods. There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively). Furthermore, a significant association between the G allele of rs4343 and autism was observed (P = 0.006, OR = 1.84, 95%CI = 1.26-2.67). Moreover, haplotype analysis revealed an association between DTG haplotype and autism (P = 0.008). Our data suggests the involvement of RAS genetic diversity in increasing the risk of autism.

  2. Genetic Variants of Angiotensin-Converting Enzyme Are Linked to Autism: A Case-Control Study.

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    Negar Firouzabadi

    Full Text Available Autism is a disease of complex nature with a significant genetic component. The importance of renin-angiotensin system (RAS elements in cognition and behavior besides the interaction of angiotensin II (Ang II, the main product of angiotensin-converting enzyme (ACE, with neurotransmitters in CNS, especially dopamine, proposes the involvement of RAS in autism. Since the genetic architecture of autism has remained elusive, here we postulated that genetic variations in RAS are associated with autism.Considering the relation between the three polymorphisms of ACE (I/D, rs4343 and rs4291 with the level of ACE activity, we have investigated this association with autism, in a case-control study. Genotype and allele frequencies of polymorphisms were determined in DNAs extracted from venous blood of 120 autistic patients and their age and sex-matched healthy controls, using polymerase chain reaction (PCR and PCR-restriction fragment length polymorphism (PCR-RFLP methods.There were strong associations between both DD genotype of ACE I/D and the D allele, with autism (P = 0.006, OR = 2.9, 95% CI = 1.64-5.13 and P = 0.006, OR = 2.18, 95% CI = 1.37-3.48 respectively. Furthermore, a significant association between the G allele of rs4343 and autism was observed (P = 0.006, OR = 1.84, 95%CI = 1.26-2.67. Moreover, haplotype analysis revealed an association between DTG haplotype and autism (P = 0.008.Our data suggests the involvement of RAS genetic diversity in increasing the risk of autism.

  3. Psychological burden among women with polycystic ovarian syndrome in Oman: a case-control study.

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    Sulaiman, Maha Ah; Al-Farsi, Yahya M; Al-Khaduri, Maha M; Waly, Mostafa I; Saleh, Jumana; Al-Adawi, Samir

    2017-01-01

    Previous studies in Euro-American populations have shown that women with polycystic ovarian syndrome (PCOS) have increased levels of "psychological burden". While PCOS has been reported in Arab countries such as Oman, there is a dearth of studies of the occurrence of psychological burden among PCOS women in the Arab region. This study aimed to compare sociodemographic and clinical characteristics of PCOS women diagnosed with non-PCOS women and prevalence of severity of depression, anxiety and stress and to explore the association between PCOS and indices of psychological disturbances after adjusting for potential confounding factors. This hospital-based case-control study was conducted among women aged 16-49 years. The study included 52 women diagnosed with PCOS (as per Rotterdam 2003 criteria) and 60 control who were PCOS-free. The presence of psychological burden - depression, anxiety and stress - was quantified using Depression, Anxiety and Stress Scale-21 (DASS-21). The crude odds ratios (ORs) generated by logistic regression models indicated an increased risk of depression, anxiety and stress among women with PCOS compared to controls. The adjusted OR also indicated an increased risk of depression (OR =1.10; 95% confidence interval [CI] 0.50, 2.43), anxiety (OR =1.09; 95% CI 0.47, 2.52) and stress (OR =1.45; 95% CI 0.68, 3.12), However, no statistical differences were observed along the three psychological distresses ( p >0.05) between the two study groups. The study indicates that the presence of PCOS is associated with an increased risk of psychological burden. If this study will withstand further scrutiny, meeting psychological needs of such population would need to be contemplated.

  4. Simple Algorithms to Calculate Asymptotic Null Distributions of Robust Tests in Case-Control Genetic Association Studies in R

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    Wing Kam Fung

    2010-02-01

    Full Text Available The case-control study is an important design for testing association between genetic markers and a disease. The Cochran-Armitage trend test (CATT is one of the most commonly used statistics for the analysis of case-control genetic association studies. The asymptotically optimal CATT can be used when the underlying genetic model (mode of inheritance is known. However, for most complex diseases, the underlying genetic models are unknown. Thus, tests robust to genetic model misspecification are preferable to the model-dependant CATT. Two robust tests, MAX3 and the genetic model selection (GMS, were recently proposed. Their asymptotic null distributions are often obtained by Monte-Carlo simulations, because they either have not been fully studied or involve multiple integrations. In this article, we study how components of each robust statistic are correlated, and find a linear dependence among the components. Using this new finding, we propose simple algorithms to calculate asymptotic null distributions for MAX3 and GMS, which greatly reduce the computing intensity. Furthermore, we have developed the R package Rassoc implementing the proposed algorithms to calculate the empirical and asymptotic p values for MAX3 and GMS as well as other commonly used tests in case-control association studies. For illustration, Rassoc is applied to the analysis of case-control data of 17 most significant SNPs reported in four genome-wide association studies.

  5. Case-control study of intracranial meningiomas in women in Los Angeles County, California

    International Nuclear Information System (INIS)

    Preston-Martin, S.; Paganini-Hill, A.; Henderson, B.E.; Pike, M.C.; Wood, C.

    1980-01-01

    A case-control study was conducted among women in Los Angeles County to investigate possible causes of intracranial meningiomas. Questionnaires sought information from patients and from a neighbor of each one on characteristics and past experiences that might be associated with the development of this disease. Information was obtained on 188 matched patient-neighbor pairs. Three primary factors appeared to be associated with meningioma occurrence: 1) a history of head trauma (odds ratio = 2.0, p = 0.01), 2) consumption of certain cured meats (odds ratio = 2.8, p = less than 0.01), and 3) exposure to medical and dental diagnostic X-rays to the head. For diagnostic X-rays, the strongest association was with early exposure (less than 20 yr old) to full-mouth dental X-ray series

  6. Risk factors for breast cancer among women in Bhopal urban agglomerate: a case-control study.

    Science.gov (United States)

    Lodha, Rama S; Nandeshwar, Sunil; Pal, D K; Shrivastav, Atul; Lodha, K M; Bhagat, Vimal K; Bankwar, Vishal V; Nandeshwar, Sunil; Saxena, D M

    2011-01-01

    Breast cancer is the most common cancer in females worldwide, and the second leading cause of cancer deaths in women. The incidence is on the rise in India, and breast cancer is the second most common malignancy in Indian women. To assess the risk factors for breast cancer patients living in Bhopal. This case-control study was conducted in Bhopal urban agglomerate for a period of a year from October 2008 to August 2009. Demographic data and reproductive risk factor related information was collected using a structured questionnaire with analyses by Epi-info and SPSS 16. A history of oral contraceptive pill use (OR=2.77, 95% CI: 1.15-6.65), history of not having breastfeeding (OR=3.49, 95% CI:1.22-9.97), over weight (OR=0.11, 95%CI:0.02-0.49), obese women (OR=0.24, 95%CI: 0.06-0.88) and family history of breast cancer (OR=3.89, 95% CI: 1.01-14.92) were associated significantly with the occurrence of breast cancer on multivariate analysis. The findings of the present study suggests that positive family history of breast cancer and history of using OCP may be the epigenetic factors promoting the occurrence of breast cancer while breastfeeding reduces the possibility of acquiring breast cancer.

  7. Putative periodontopathic bacteria and herpesviruses in pregnant women: a case-control study.

    Science.gov (United States)

    Lu, Haixia; Zhu, Ce; Li, Fei; Xu, Wei; Tao, Danying; Feng, Xiping

    2016-06-15

    Little is known about herpesvirus and putative periodontopathic bacteria in maternal chronic periodontitis. The present case-control study aimed to explore the potential relationship between putative periodontopathic bacteria and herpesviruses in maternal chronic periodontitis.Saliva samples were collected from 36 pregnant women with chronic periodontitis (cases) and 36 pregnant women with healthy periodontal status (controls). Six putative periodontopathic bacteria (Porphyromonas gingivalis [Pg], Aggregatibacer actinomycetemcomitans [Aa], Fusobacterium nucleatum [Fn], Prevotella intermedia [Pi], Tannerella forsythia [Tf], and Treponema denticola [Td]) and three herpesviruses (Epstein-Barr virus [EBV], human cytomegalovirus [HCMV], and herpes simplex virus [HSV]) were detected. Socio-demographic data and oral health related behaviors, and salivary estradiol and progesterone levels were also collected. The results showed no significant differences in socio-demographic background, oral health related behaviors, and salivary estradiol and progesterone levels between the two groups (all P > 0.05). The detection rates of included periodontopathic microorganisms were not significantly different between the two groups (all P > 0.05), but the coinfection rate of EBV and Pg was significantly higher in the case group than in the control group (P = 0.028). EBV and Pg coinfection may promote the development of chronic periodontitis among pregnant women.

  8. Study of environmental and genetic factors in children with craniosynostosis: A case-control study

    Science.gov (United States)

    Barik, Mayadhar; Bajpai, Minu; Das, Rashmi Ranjan; Panda, Shasanka Shekhar

    2013-01-01

    Background: Craniosynostosis is a congenital defect that causes one or more sutures on an infant's skull to close earlier than normal. Though both genetic and environmental factors play a role in its pathogenesis, there is no published Indian data to verify this. Materials and Methods: In this case-control study, we investigated the association of craniosynostosis with parental age in 50 children with craniosynostosis attending the surgical outpatient department of a tertiary care institution in North India. Results: There was a significant association of craniosynostosis with advanced parental [OR 2.17 (95% CI 1.08 to 4.36)] but not maternal age. Education status of parents also revealed that those having a higher education had an increased risk of having a child with craniosynostosis [maternal education, OR 2.32 (95% CI 1.2 to 4.76); paternal education, OR 2.51 (95% CI 1.21 to 5.0)]. Molecular analysis by sequencing confirmed following amino-acid substitution in different Exons of the FGFR2 gene. Besides these, we found other novel identical mutations in FGFR2 gene in both syndromic and non-syndromic craniosynostoses. Conclusion: This is the first epidemiological study in India that provides evidence that, advanced paternal age and higher parental education level might be associated with an increased risk of craniosynostosis. New mutations were identified in cases of both syndromic and non-syndromic craniosynostosis. PMID:24082921

  9. MSX1 gene variant - its presence in tooth absence - a case control genetic study.

    Science.gov (United States)

    Reddy, Naveen Admala; Adusumilli, Gopinath; Devanna, Raghu; Pichai, Saravanan; Rohra, Mayur Gobindram; Arjunan, Sharmila

    2013-10-01

    Non Syndromic tooth agenesis is a congenital anomaly with significant medical, psychological and social ramifications. There is sufficient evidence to hypothesize that locus for this condition can be identified by candidate genes. The aim of this study was to test whether MSX1 671 T>C gene variant was involved in etiology of Non Syndromic tooth agenesis in Raichur Patients. Blood samples were collected with informed consent from 50 subjects having Non Syndromic tooth agenesis and 50 controls. Genomic DNA was extracted from the blood samples, Polymerase Chain Reaction was performed (PCR) and Restriction Fragment Length Polymorphism (RFLP) was performed for digestion products that were evaluated. The RESULTS showed positive correlation between MSX1671 T>C gene variant and Non Syndromic tooth agenesis in Raichur Patients. MSX1 671 T>C gene variant may be a good screening marker for Non Syndromic tooth agenesis in Raichur Patients . How to cite this article:Reddy NA, Adusumilli G, Devanna R, Pichai S, Rohra MG, Arjunan S. Msx1 Gene Variant - Its Presence in Tooth Absence - A Case Control Genetic Study. J Int Oral Health 2013; 5(5):20-6.

  10. Serum Taurine and Stroke Risk in Women: A Prospective, Nested Case-Control Study

    Science.gov (United States)

    Wu, Fen; Koenig, Karen L.; Zeleniuch-Jacquotte, Anne; Jonas, Saran; Afanasyeva, Yelena; Wójcik, Oktawia P.; Costa, Max; Chen, Yu

    2016-01-01

    Background Taurine (2-aminoethanesulfonic acid), a conditionally essential sulfur-containing amino acid, is mainly obtained from diet in humans. Experimental studies have shown that taurine’s main biological actions include bile salt conjugation, blood pressure regulation, anti-oxidation, and anti-inflammation. Methods We conducted a prospective case-control study nested in the New York University Women’s Health Study, a cohort study involving 14,274 women enrolled since 1985. Taurine was measured in pre-diagnostic serum samples of 241 stroke cases and 479 matched controls. Results There was no statistically significant association between serum taurine and stroke risk in the overall study population. The adjusted ORs for stroke were 1.0 (reference), 0.87 (95% CI, 0.59–1.28), and 1.03 (95% CI, 0.69–1.54) in increasing tertiles of taurine (64.3–126.6, 126.7–152.9, and 153.0–308.5 nmol/mL, respectively). A significant inverse association between serum taurine and stroke risk was observed among never smokers, with an adjusted OR of 0.66 (95% CI, 0.37–1.18) and 0.50 (95% CI, 0.26–0.94) for the second and third tertile, respectively (p for trend = 0.01), but not among past or current smokers (p for interaction taurine and stroke risk, although a protective effect was observed in never smokers, which requires further investigation. Taurine, Stroke, Epidemiology, Prospective, Case-control study, NYUWHS. PMID:26866594

  11. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating in th...

  12. Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

    DEFF Research Database (Denmark)

    Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B

    2010-01-01

    Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence breast cancer risk in white women of European ancestry using case-control studies participating...

  13. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins

    Directory of Open Access Journals (Sweden)

    Moreno Victor

    2011-08-01

    Full Text Available Abstract Background Colorectal cancer (CRC is the second leading cause of cancer death in developed countries. Familial aggregation in CRC is also important outside syndromic forms and, in this case, a polygenic model with several common low-penetrance alleles contributing to CRC genetic predisposition could be hypothesized. Mucins and GALNTs (N-acetylgalactosaminyltransferase are interesting candidates for CRC genetic susceptibility and have not been previously evaluated. We present results for ten genetic variants linked to CRC risk in previous studies (previously identified category and 18 selected variants from the mucin gene family in a case-control association study from the Spanish EPICOLON consortium. Methods CRC cases and matched controls were from EPICOLON, a prospective, multicenter, nationwide Spanish initiative, comprised of two independent stages. Stage 1 corresponded to 515 CRC cases and 515 controls, whereas stage 2 consisted of 901 CRC cases and 909 controls. Also, an independent cohort of 549 CRC cases and 599 controls outside EPICOLON was available for additional replication. Genotyping was performed for ten previously identified SNPs in ADH1C, APC, CCDN1, IL6, IL8, IRS1, MTHFR, PPARG, VDR and ARL11, and 18 selected variants in the mucin gene family. Results None of the 28 SNPs analyzed in our study was found to be associated with CRC risk. Although four SNPs were significant with a P-value ADH1C (OR = 1.63, 95% CI = 1.06-2.50, P-value = 0.02, recessive, rs1800795 in IL6 (OR = 1.62, 95% CI = 1.10-2.37, P-value = 0.01, recessive, rs3803185 in ARL11 (OR = 1.58, 95% CI = 1.17-2.15, P-value = 0.007, codominant, and rs2102302 in GALNTL2 (OR = 1.20, 95% CI = 1.00-1.44, P-value = 0.04, log-additive 0, 1, 2 alleles], only rs3803185 achieved statistical significance in EPICOLON stage 2 (OR = 1.34, 95% CI = 1.06-1.69, P-value = 0.01, recessive. In the joint analysis for both stages, results were only significant for rs3803185 (OR = 1

  14. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins

    International Nuclear Information System (INIS)

    Abulí, Anna; Morillas, Juan D; Rigau, Joaquim; Latorre, Mercedes; Fernández-Bañares, Fernando; Peña, Elena; Riestra, Sabino; Payá, Artemio; Jover, Rodrigo; Xicola, Rosa M; Llor, Xavier; Fernández-Rozadilla, Ceres; Carvajal-Carmona, Luis; Villanueva, Cristina M; Moreno, Victor; Piqué, Josep M; Carracedo, Angel; Castells, Antoni; Andreu, Montserrat; Ruiz-Ponte, Clara; Castellví-Bel, Sergi; Alonso-Espinaco, Virginia; Muñoz, Jenifer; Gonzalo, Victoria; Bessa, Xavier; González, Dolors; Clofent, Joan; Cubiella, Joaquin

    2011-01-01

    Colorectal cancer (CRC) is the second leading cause of cancer death in developed countries. Familial aggregation in CRC is also important outside syndromic forms and, in this case, a polygenic model with several common low-penetrance alleles contributing to CRC genetic predisposition could be hypothesized. Mucins and GALNTs (N-acetylgalactosaminyltransferase) are interesting candidates for CRC genetic susceptibility and have not been previously evaluated. We present results for ten genetic variants linked to CRC risk in previous studies (previously identified category) and 18 selected variants from the mucin gene family in a case-control association study from the Spanish EPICOLON consortium. CRC cases and matched controls were from EPICOLON, a prospective, multicenter, nationwide Spanish initiative, comprised of two independent stages. Stage 1 corresponded to 515 CRC cases and 515 controls, whereas stage 2 consisted of 901 CRC cases and 909 controls. Also, an independent cohort of 549 CRC cases and 599 controls outside EPICOLON was available for additional replication. Genotyping was performed for ten previously identified SNPs in ADH1C, APC, CCDN1, IL6, IL8, IRS1, MTHFR, PPARG, VDR and ARL11, and 18 selected variants in the mucin gene family. None of the 28 SNPs analyzed in our study was found to be associated with CRC risk. Although four SNPs were significant with a P-value < 0.05 in EPICOLON stage 1 [rs698 in ADH1C (OR = 1.63, 95% CI = 1.06-2.50, P-value = 0.02, recessive), rs1800795 in IL6 (OR = 1.62, 95% CI = 1.10-2.37, P-value = 0.01, recessive), rs3803185 in ARL11 (OR = 1.58, 95% CI = 1.17-2.15, P-value = 0.007, codominant), and rs2102302 in GALNTL2 (OR = 1.20, 95% CI = 1.00-1.44, P-value = 0.04, log-additive 0, 1, 2 alleles], only rs3803185 achieved statistical significance in EPICOLON stage 2 (OR = 1.34, 95% CI = 1.06-1.69, P-value = 0.01, recessive). In the joint analysis for both stages, results were only significant for rs3803185 (OR = 1.12, 95% CI = 1

  15. A case-control study on risk factors of breast cancer in Han Chinese women.

    Science.gov (United States)

    Liu, Li-Yuan; Wang, Fei; Cui, Shu-De; Tian, Fu-Guo; Fan, Zhi-Min; Geng, Cui-Zhi; Cao, Xu-Chen; Yang, Zhen-Lin; Wang, Xiang; Liang, Hong; Wang, Shu; Jiang, Hong-Chuan; Duan, Xue-Ning; Wang, Hai-Bo; Li, Guo-Lou; Wang, Qi-Tang; Zhang, Jian-Guo; Jin, Feng; Tang, Jin-Hai; Li, Liang; Zhu, Shi-Guang; Zuo, Wen-Shu; Yu, Li-Xiang; Xiang, Yu-Juan; Zhou, Fei; Li, Liang; Zhang, Qiang; Fu, Qin-Ye; Ma, Zhong-Bing; Gao, De-Zong; Li, Yu-Yang; Liu, Lu; Ye, Chun-Miao; Wang, Yong-Jiu; Zhou, Wen-Zhong; Yu, Zhi-Gang

    2017-11-14

    This study aimed to investigate risk factors associated with breast cancer among Han Chinese women in northern and eastern China. A matched case-control study involving 1489 patients with breast cancer and 1489 controls was conducted across 21 hospitals in 11 provinces in China, from April 2012 to April 2013. We developed a structured questionnaire to record information from face-to-face interviews with participants. Student's t-tests, Pearson's chi-square tests, and univariate and multivariate conditional logistic regression analyses were used to identify variables with significant differences between the case and control groups. Ten variables were identified (P ratio, menopause, family history of breast cancer, present life satisfaction, sleep satisfaction, milk products, behavior prevention scores, and awareness of breast cancer. We identified a comprehensive range of factors related to breast cancer, among which several manageable factors may contribute to breast cancer prevention. Further prospective studies concerning psychological interventions, sleep regulation, health guidance, and physical exercise are required. A screening model for high-risk populations should be put on the agenda.

  16. A multicentre matched case control study of risk factors for Preeclampsia in healthy women in Pakistan

    Directory of Open Access Journals (Sweden)

    Qadri Zeeshan

    2010-04-01

    Full Text Available Abstract Background Preeclampsia is one of the leading causes of maternal and perinatal morbidity and mortality world-wide. The risk for developing preeclampsia varies depending on the underlying mechanism. Because the disorder is heterogeneous, the pathogenesis can differ in women with various risk factors. Understanding these mechanisms of disease responsible for preeclampsia as well as risk assessment is still a major challenge. The aim of this study was to determine the risk factors associated with preeclampsia, in healthy women in maternity hospitals of Karachi and Rawalpindi. Methods We conducted a hospital based matched case-control study to assess the factors associated with preeclampsia in Karachi and Rawalpindi, from January 2006 to December 2007. 131 hospital-reported cases of PE and 262 controls without history of preeclampsia were enrolled within 3 days of delivery. Cases and controls were matched on the hospital, day of delivery and parity. Potential risk factors for preeclampsia were ascertained during in-person postpartum interviews using a structured questionnaire and by medical record abstraction. Conditional logistic regression was used to estimate matched odds ratios (ORs and 95% confidence intervals (95% CIs. Results In multivariate analysis, women having a family history of hypertension (adjusted OR 2.06, 95% CI; 1.27-3.35, gestational diabetes (adjusted OR 6.57, 95% CI; 1.94 -22.25, pre-gestational diabetes (adjusted OR 7.36, 95% CI; 1.37-33.66 and mental stress during pregnancy (adjusted OR 1.32; 95% CI; 1.19-1.46, for each 5 unit increase in Perceived stress scale score were at increased risk of preeclampsia. However, high body mass index, maternal age, urinary tract infection, use of condoms prior to index pregnancy and sociodemographic factors were not associated with higher risk of having preeclampsia. Conclusions Development of preeclampsia was associated with gestational diabetes, pregestational diabetes, family

  17. Risk factors for inguinal hernia in women: a case-control study. The Coala Trial Group.

    Science.gov (United States)

    Liem, M S; van der Graaf, Y; Zwart, R C; Geurts, I; van Vroonhoven, T J

    1997-11-01

    Potential risk factors for inguinal hernia in women were investigated and the relative importance of these factors was quantified. In women, symptomatic but nonpalpable hernias often remain undiagnosed. However, knowledge on this subject only concerns hernia and operation characteristics, which have been obtained by review of case series. Virtually nothing is known about risk factors for inguinal hernia. The authors performed a hospital-based case-control study of 89 female patients with an incident inguinal hernia and 176 age-matched female controls. Activity since birth with two validated questionnaires was measured and smoking habits, medical and operation history, Quetelet index (kg/m2), and history of pregnancies and deliveries were recorded. Response for cases was 81% and for controls 73%. Total physical activity was not associated with inguinal hernia (univariate odds ratio (OR) = 0.8, 95% confidence interval (CI) 0.6-1.1), but high present sports activities was associated with less inguinal hernia (multivariate OR = 0.2, 95% CI 0.1-0.7). Obesity (Quetelet index > 30) was also protective for inguinal hernia (OR = 0.2, 95% CI 0.04-1.0). Independent risk factors were positive family history (OR = 4.3, 95% CI 1.9-9.7) and obstipation (OR = 2.5, 95% CI 1.0-6.7). In particular, smoking, appendectomy, other abdominal operations, and multiple deliveries were not associated with inguinal hernia in females. The protective effect of present sports activity may be explained by optimizing the resistance of the abdominal musculature protecting the relatively small inguinal weak spot in the female. The individual predisposition for inguinal hernia may be quantified by these risk factors, and, with this in mind, the authors advise that further evaluation might be needed for the patient with unexplained inguinal pain.

  18. Using case-control designs for genome-wide screening for associations between genetic markers and disease susceptibility loci.

    Science.gov (United States)

    Yang, Q; Khoury, M J; Atkinson, M; Sun, F; Cheng, R; Flanders, W D

    1999-01-01

    We used a case-control design to scan the genome for any associations between genetic markers and disease susceptibility loci using the first two replicates of the Mycenaean population from the GAW11 (Problem 2) data. Using a case-control approach, we constructed a series of 2-by-3 tables for each allele of every marker on all six chromosomes. Odds ratios (ORs) and 95% confidence intervals (95% CI) were estimated for all alleles of every marker. We selected the one allele for which the estimated OR had the minimum p-value to plot in the graph. Among these selected ORs, we calculated 95% CI for those that had a p-value Mycenaean population, the case-control design identified allele number 1 of marker 24 on chromosome 1 to be associated with a disease susceptibility gene, OR = 2.10 (95% CI 1.66-2.62). Our approach failed to show any other significant association between case-control status and genetic markers. Stratified analysis on the environmental risk factor (E1) provided no further evidence of significant association other than allele 1 of marker 24 on chromosome 1. These data indicate the absence of linkage disequilibrium for markers flanking loci A, B, and C. Finally, we examined the effect of gene x environment (G x E) interaction for the identified allele. Our results provided no evidence of G x E interaction, but suggested that the environmental exposure alone was a risk factor for the disease.

  19. Correlates of Lymphedema in Women with Breast Cancer: a Case Control Study in Shiraz, Southern Iran.

    Science.gov (United States)

    Honarvar, Behnam; Sayar, Negin; Tahmasebi, Sedigheh; Zakeri, Zeinab; Talei, Asra; Rostami, Sara; Khademi, Sahar; Sabzi Sarvestani, Amene; Sekhavati, Eghbal

    2016-01-01

    Globally, the burden of breast cancer (BC) continues to increase. BC related lymphedema (BCRL) is currently non curable and as a life time risk it affects at least 25% of BC patients. Knowing more about BCRL and appropriate control of its modifiable risk factors can improve quality of life (QOL) of the affected patients. In this case control study to detect factors, 400 women with BCRL (as the case group) and 283 patients with BC without lymphedema (as the control group) that were referred to Shiraz University of Medical Sciences affiliated BC clinic center were assessed. The data were analyzed in SPSS. The mean age of the case group was 52.3±11.0 years and of the control group was 50.1±10.9 years. In patients with BCRL, 203(50.7%) had left (Lt) side BC and in non- lymphedema group 151 (53.3%) had Lt side BC. Out of all BCRL patients, 204 (51%) had lymphedema in all parts of their affected upper extremities, 100 (25%) had swelling in the arm and forearm and 23 (5.7%) had edema in both the upper extremity and trunk. Edema, heaviness, concern about changing body image, pain and paresthesia were the most common signs/symptoms among patients with BCRL. In BCRL patients, the difference of circumference between the affected upper limb and non-affected limb was 4.4±2.5 cm and the difference in volume displacement was 528.7±374.4 milliliters. Multiple variable analysis showed that moderate to severe activity (OR; odds ratio =14, 95% CI: 2.6-73.3 ), invasiveness of BC (OR =13.7, 95% CI: 7.3-25.6), modified radical mastectomy (OR=4.3, 95% CI: 2.3-7.9), BMI =>25 (OR=4.2, 95% CI: 2-8.7), radiotherapy (OR=3.9, 95% CI: 1.8-8.2 ), past history of limb damage (OR=1.7, 95% CI: 0.9-3.1) and the number of excised lymph nodes (OR=1.06, 95% CI: 1.02-1.09) were the significant predictors of lymphedema in women with BC. Modifiable risk factors of BCRL such as non-guided moderate to severe physical activity, high BMI and trauma to the limb should be controlled as early as possible in

  20. Determinants of institutional delivery among childbearing age women in Western Ethiopia, 2013: unmatched case control study.

    Directory of Open Access Journals (Sweden)

    Tesfaye Regassa Feyissa

    Full Text Available BACKGROUND: Place of delivery is a crucial factor which affects the health and wellbeing of the mother and newborn. Institutional delivery helps the women to access skilled assistance, drugs, equipment, and referral transport. Even though 34% of pregnant women received at least one antenatal care from a skilled provider in Ethiopia by 2013, institutional delivery was 10%. The main objective of the study was to assess determinants of institutional delivery in Western Ethiopia. METHODS: Retrospective unmatched case control study design was used to assess determinants of institutional delivery in Western Ethiopia from September to October 2013. A total of 320 respondents from six districts of East Wollega zone, West Ethiopia were included. Data were collected using pretested and structured questionnaires. Data were entered and cleaned by Epi-info then exported and analyzed using SPSS software. Statistical significance was determined through a 95% confidence level. RESULTS: Education [Adjusted Odds Ratio (AOR (95% Confidence Interval (CI = 2.754(1.510-8.911], family size [AOR (95% CI = .454(.209-.984], residence [AOR (95% CI = 3.822 (1.766-8.272] were important predictors of place of delivery. Four or more antenatal care [(ANC (AOR (95% CI = 2.914(1.105-7.682], birth order [(AOR (95% CI = .136(.054-.344, age at last delivery [(AOR (95% CI = 9.995(2.101-47.556], birth preparedness [AOR (95% CI = 6.957(2.422-19.987], duration of labour [AOR (95% CI = 3.541(1.732-7.239] were significantly associated with institutional delivery. Moreover service related factors such as distance from health institutions [AOR (95% CI = .665(.173-.954], respondents' awareness of skill of health care professionals [AOR (95% CI = 2.454 (1.663-6.255], mode of transportations [AOR (95% CI = .258(.122-.549] were significantly associated with institutional delivery. CONCLUSIONS AND RECOMMENDATIONS: Policy makers, health service

  1. Determinants of institutional delivery among childbearing age women in Western Ethiopia, 2013: unmatched case control study.

    Science.gov (United States)

    Feyissa, Tesfaye Regassa; Genemo, Gebi Agero

    2014-01-01

    Place of delivery is a crucial factor which affects the health and wellbeing of the mother and newborn. Institutional delivery helps the women to access skilled assistance, drugs, equipment, and referral transport. Even though 34% of pregnant women received at least one antenatal care from a skilled provider in Ethiopia by 2013, institutional delivery was 10%. The main objective of the study was to assess determinants of institutional delivery in Western Ethiopia. Retrospective unmatched case control study design was used to assess determinants of institutional delivery in Western Ethiopia from September to October 2013. A total of 320 respondents from six districts of East Wollega zone, West Ethiopia were included. Data were collected using pretested and structured questionnaires. Data were entered and cleaned by Epi-info then exported and analyzed using SPSS software. Statistical significance was determined through a 95% confidence level. Education [Adjusted Odds Ratio (AOR) (95% Confidence Interval (CI)) = 2.754(1.510-8.911)], family size [AOR (95% CI) = .454(.209-.984)], residence [AOR (95% CI) = 3.822 (1.766-8.272)] were important predictors of place of delivery. Four or more antenatal care [(ANC) (AOR (95% CI) = 2.914(1.105-7.682)], birth order [(AOR (95% CI) = .136(.054-.344), age at last delivery [(AOR (95% CI) = 9.995(2.101-47.556)], birth preparedness [AOR (95% CI) = 6.957(2.422-19.987)], duration of labour [AOR (95% CI) = 3.541(1.732-7.239)] were significantly associated with institutional delivery. Moreover service related factors such as distance from health institutions [AOR (95% CI) = .665(.173-.954)], respondents' awareness of skill of health care professionals [AOR (95% CI) = 2.454 (1.663-6.255)], mode of transportations [AOR (95% CI) = .258(.122-.549)] were significantly associated with institutional delivery. Policy makers, health service organizations, community leaders and other concerned bodies have

  2. Genetic variations in the Dravidian population of South West coast of India: Implications in designing case-control studies.

    Science.gov (United States)

    D'Cunha, Anitha; Pandit, Lekha; Malli, Chaithra

    2017-06-01

    Indian data have been largely missing from genome-wide databases that provide information on genetic variations in different populations. This hinders association studies for complex disorders in India. This study was aimed to determine whether the complex genetic structure and endogamy among Indians could potentially influence the design of case-control studies for autoimmune disorders in the south Indian population. A total of 12 single nucleotide variations (SNVs) related to genes associated with autoimmune disorders were genotyped in 370 healthy individuals belonging to six different caste groups in southern India. Allele frequencies were estimated; genetic divergence and phylogenetic relationship within the various caste groups and other HapMap populations were ascertained. Allele frequencies for all genotyped SNVs did not vary significantly among the different groups studied. Wright's FSTwas 0.001 per cent among study population and 0.38 per cent when compared with Gujarati in Houston (GIH) population on HapMap data. The analysis of molecular variance results showed a 97 per cent variation attributable to differences within the study population and variation due to differences between castes. Phylogenetic analysis showed a separation of Dravidian population from other HapMap populations and particularly from GIH population. Despite the complex genetic origins of the Indian population, our study indicated a low level of genetic differentiation among Dravidian language-speaking people of south India. Case-control studies of association among Dravidians of south India may not require stratification based on language and caste.

  3. Power for genetic association study of human longevity using the case-control design

    DEFF Research Database (Denmark)

    Tan, Qihua; Zhao, Jing Hua; Zhang, Dongfeng

    2008-01-01

    The efficiency of the popular case-control design in gene-longevity association studies needs to be verified because, different from a binary trait, longevity represents only the extreme end of the continuous life span distribution without a clear cutoff for defining the phenotype. In this paper...

  4. The Relation of Diabetes Type 2 with Sexual Function among Reproductive Age Women in Iran, a Case-Control Study

    Directory of Open Access Journals (Sweden)

    Poorandokht Afshari

    2017-01-01

    Full Text Available Background. Diabetic patients are at the greater risk of retinopathy, nephropathy, neuropathy, and sexual dysfunction compared to the general population. Objective. The aim of this study was to evaluate the sexual dysfunction in type 2 diabetes reproductive age women in Iran. Method. This was a case-control study carried out on 130 women with type 2 diabetes and 130 healthy women. The type 2 diabetes diagnosis was confirmed with abnormal fasting blood sugar, abnormal random blood sugar test, and abnormal level of HbA1C. Eligible women were requested to complete a demographic questionnaire and female sexual function index (FSFI. The chi-square test, independent t-test, and Multivariate Analysis of Covariance (MANCOVA were used for analyzing data. Results. Results of this study showed that diabetic women had significantly lower sexual desire, arousal, lubrication, and orgasm and more pain compared to the healthy women (p<0.05. Also diabetic women had lower sexual satisfaction compared to the healthy women (p=0.002. The total score of sexual function was significantly lower in the diabetic women compared to the healthy women (21.25±7.04 versus 22.43±7.6, p=0.004. Conclusion. Results of this study showed that the score of all dimensions of sexual function in diabetic patients was lower than that in healthy women. Education and counseling about controlling diabetes and sexual function among diabetic women in reproductive age are recommended.

  5. Childhood risk factors in Korean women with anorexia nervosa: two sets of case-control studies with retrospective comparisons.

    Science.gov (United States)

    Kim, Youl-Ri; Heo, Si Young; Kang, Heechan; Song, Ki Jun; Treasure, Janet

    2010-11-01

    The aim of this study was to investigate the characteristics of the risk factors for anorexia nervosa (AN) in Korean women. Two sets of case-control comparisons were conducted, in which 52 women with lifetime AN from Seoul, S. Korea, were compared with 108 Korean healthy controls and also with 42 women with lifetime AN from the UK in terms of their childhood risk factors. A questionnaire designed to conduct a retrospective assessment of the childhood risk factors was administered to all participants. The Korean AN women were more likely to report premorbid anxiety, perfectionism, and emotional undereating and were less likely to report having supportive figures in their childhood than the Korean healthy controls. There were no overall differences in the childhood risk factors between the Korean and British women with AN. Premorbid anxiety, perfectionism, less social support, and emotional undereating merit attention as risk factors in Korean AN. The current results are informative, but an epidemiologically robust prospective case-control study would be needed to validate these findings. © 2009 by Wiley Periodicals, Inc.

  6. Women with learning disabilities and access to cervical screening: retrospective cohort study using case control methods

    OpenAIRE

    Reynolds, Fiona; Stanistreet, Debbi; Elton, Peter

    2008-01-01

    Abstract Background Several studies in the UK have suggested that women with learning disabilities may be less likely to receive cervical screening tests and a previous local study in had found that GPs considered screening unnecessary for women with learning disabilities. This study set out to ascertain whether women with learning disabilities are more likely to be ceased from a cervical screening programme than women without; and to examine the reasons given for ceasing women with learning ...

  7. Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study

    Czech Academy of Sciences Publication Activity Database

    Suarez-Gestal, M.; Calaza, M.; Endreffy, E.; Pullmann, R.; Ordi-Ros, J.; Sebastiani, D.G.; Růžičková, Šárka; Santos, J.M.; Papasteriades, C.; Marchini, M.; Skopouli, F.N.; Suarez, A.; Blanco, F.J.; D'Alfonso, S.; Bijl, M.; Carreira, P.; Witte, T.; Migliaresi, S.; Gomez-Reino, J.J.; Gonzalez, A.

    2009-01-01

    Roč. 11, č. 3 (2009), R69 ISSN 1478-6362 Keywords : Single nucleotide polymorphism susceptibility * sytemic lupus erythematosus Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.271, year: 2009

  8. Placental vascular complications in HIV-infected pregnant women: a case-control study

    OpenAIRE

    CANLORBE, Geoffroy

    2012-01-01

    Background: Data from international literature suggest a link between HIV infection and placental vascular complications during pregnancy. Current studies on the subject are conflicting.Objective: The aim of the study was to evaluate the incidence of placental vascular complications during pregnancy among HIV+ and HIV- patients.Study Design: It is a single-center case-control study comparing the rates of gestational hypertension, preeclampsia, eclampsia and vascular intrauterine growth retard...

  9. Pregnant womens' concerns when invited to a randomized trial: a qualitative case control study

    NARCIS (Netherlands)

    Oude Rengerink, Katrien; Logtenberg, Sabine; Hooft, Lotty; Bossuyt, Patrick M.; Mol, Ben Willem

    2015-01-01

    Pregnant women were excluded from clinical trials until the 1990s, but the Food and Drug Administration nowadays allows--and even encourages--responsible inclusion of pregnant women in trials with adequate safety monitoring. Still, randomized trials in pregnant women face specific enrolment

  10. Pregnant womens' concerns when invited to a randomized trial : a qualitative case control study

    NARCIS (Netherlands)

    Oude Rengerink, Katrien; Logtenberg, Sabine; Hooft, Lotty; Bossuyt, Patrick M; Mol, Ben Willem; Oude Rengerink, K

    2015-01-01

    BACKGROUND: Pregnant women were excluded from clinical trials until the 1990s, but the Food and Drug Administration nowadays allows--and even encourages--responsible inclusion of pregnant women in trials with adequate safety monitoring. Still, randomized trials in pregnant women face specific

  11. Genetic variations of GAK in two Chinese Parkinson's disease populations: a case-control study.

    Directory of Open Access Journals (Sweden)

    Wei-En Johnny Tseng

    Full Text Available Cyclin G-associated kinase (GAK modifies α-synuclein expression levels and affects the susceptibility of Parkinson's disease (PD. The single-nucleotide polymorphism (SNP rs1564282 of GAK gene has a significant association to the risk of PD among Caucasian populations. To date there is only one data with regards to ethnic Chinese from Mainland China. Here, we conducted a case-control study in two independent cohorts of Han Chinese populations from Taiwan and Singapore to validate this association. A total of 1,755 subjects (871 PD patients and 884 controls were recruited. The results showed that neither the CT, TT genotypes nor the minor allele T of SNP rs1564282 were associated with PD among the subjects from Taiwan and Singapore as well as in the pooled analysis. Differences in our study population with regards to published literature may be due to epigenetic factors and gene-gene or gene-environmental interactions. Further studies in other Chinese populations will be of interest to validate these findings.

  12. Determinants of Excess Genetic Risk of Acute Myocardial Infarction - A Matched Case-Control Study

    Czech Academy of Sciences Publication Activity Database

    Valenta, Zdeněk; Mazura, Ivan; Kolář, M.; Feglarová, Petra; Peleška, Jan; Tomečková, Marie; Kalina, Jan; Slovák, Dalibor; Zvárová, Jana

    2012-01-01

    Roč. 8, č. 1 (2012), s. 34-43 ISSN 1801-5603 R&D Projects: GA MŠk(CZ) 1M06014 Institutional support: RVO:67985807 Keywords : genome-wide association study * gene expression * myocardial infarction * genetic predisposition * predictive modeling Subject RIV: BB - Applied Statistics, Operational Research http://www.ejbi.org/img/ejbi/2012/1/Valenta_en.pdf

  13. The yerba mate intake has a neutral effect on bone: A case-control study in postmenopausal women.

    Science.gov (United States)

    da Veiga, Denise T A; Bringhenti, Raísa; Bolignon, Aline A; Tatsh, Etiane; Moresco, Rafael N; Comim, Fabio V; Premaor, Melissa O

    2018-01-01

    Nutritional factors have been associated with osteoporosis and fractures. The intake of coffee may increase the risk of fracture whereas the intake of black and green tea is associated with its reduction. Recently, consumption of yerba mate was associated with increased bone mineral density in postmenopausal women. Nonetheless, its influence on fracture is not known. The aim of this study was to evaluate the effect of yerba mate tea intake on fractures, bone markers, calcium homeostasis, and oxidative stress in postmenopausal women. A case-control study was carried out in South Brazil, 46 women with fractures and 49 controls completed the study. There was no significant difference between the frequency of fractures in women who drank mate tea and women who did not (48.3% vs. 48.5%, p = .99). Moreover, there was no significant difference concerning the serum levels of total calcium, phosphorus, PTH, vitamin D, P1NP, and CTX in the subjects with the history of yerba mate use when compared to controls. Higher serum levels of NOx were found in women who drank the yerba mate infusion. In conclusion, the yerba mate intake is not associated with fracture, and it appears to have a neutral effect on the bone metabolism. Copyright © 2017 John Wiley & Sons, Ltd.

  14. Oral changes in pregnant and nonpregnant women: A case-control study

    Directory of Open Access Journals (Sweden)

    Santosh R Patil

    2013-01-01

    Full Text Available Aim: The numerous changes occurring during pregnancy affect every body system, resulting in localized physical alterations in almost all parts of the body, including the oral cavity. The aim of the present study was to find the incidence of oral conditions seen particularly in the pregnant women than in the nonpregnant women. Materials and Methods: The oral health condition of 120 pregnant women referred to the outpatient department of Jodhpur Dental College General Hospital from a gynecology clinic were examined and compared with 120 nonpregnant women. The pregnant women were divided in a 3 groups of 40 each, according to the stage of pregnancy. The common oral conditions seen during pregnancy were assessed. Results: Pregnant women had a higher incidence of gingivitis and pyogenic granuloma. Gingivitis and erosion of teeth due to vomiting was seen commonly in the 3 rd trimester. The results indicated that pregnancy had an effect on the oral condition, which was mainly due to the hormonal changes seen during this period rather than other factors. Conclusion: Women planning a pregnancy or those already pregnant should be informed about the role of oral health during pregnancy and the possible outcomes of these conditions for the welfare of their foetus. They should be referred to the dental clinician for necessary counselling for preventive oral self-care and treatment, if required.

  15. Polymorphisms of the lipoprotein lipase gene as genetic markers for stroke in colombian population: a case control study.

    Science.gov (United States)

    Velásquez Pereira, Leydi Carolina; Vargas Castellanos, Clara Inés; Silva Sieger, Federico Arturo

    2016-12-30

    To analyze if there is an association between the presence of polymorphisms in the LPL gene (rs320, rs285 and rs328) with development of acute ischemic stroke in Colombian population. In a case control design, 133 acute ischemic stroke patients (clinical diagnosis and x-ray CT) and 269 subjects without stroke as controls were studied. PCR -RFLP technique was used to detect rs320, rs285 and rs328 polymorphisms in the LPL gene. In the present research was not found any association between any of the LPL gene polymorphism and acute ischemic stroke in the population studied; the allele and genotypic frequencies of the studied polymorphisms were similar in cases and controls and followed the Hardy-Weinberg equilibrium. The study was approved by the IRB and each subject signed the informed consent. LPL gene polymorphisms are not genetic markers for the development of stroke in the Colombian sample used.

  16. Genetic polymorphisms and asthma: findings from a case-control study in the Madeira island population.

    Science.gov (United States)

    Berenguer, Anabela Gonçalves; Fernandes, Ana Teresa; Oliveira, Susana; Rodrigues, Mariana; Ornelas, Pedro; Romeira, Diogo; Serrão, Tânia; Rosa, Alexandra; Câmara, Rita

    2014-09-04

    Asthma is a complex disease influenced by multiple genetic and environmental factors. While Madeira has the highest prevalence of asthma in Portugal (14.6%), the effect of both genetic and environmental factors in this population has never been assessed. We categorized 98 asthma patients according to the Global Initiative for Asthma (GINA) guidelines, established their sensitization profile, and measured their forced expiratory volume in 1 second (FEV1) and forced vital capacity (FVC) indexes. Selected single nucleotide polymorphisms (SNPs) were analysed as potential markers for asthma susceptibility and severity in the interleukin 4 (IL4), interleukin 13 (IL13), beta-2-adrenergic receptor (ADRB2), a disintegrin and metalloprotease 33 (ADAM33), gasdermin-like (GSDML) and the signal transducer and activator of transcription 6 (STAT6) genes comparatively to a population reference set. Although mites are the major source of allergic sensitization, no significant difference was found amongst asthma severity categories. IL4-590*CT/TT and IL4-RP2*253183/183183 were found to predict the risk (2-fold) and severity (3 to 4-fold) of asthma and were associated with a lower FEV1 index. ADRB2-c.16*AG is a risk factor (3.5-fold), while genotype GSDML-236*TT was protective (4-fold) for moderate-severe asthma. ADAM33-V4*C was associated to asthma and mild asthma by the transmission disequilibrium test (TDT). Finally, ADAM33-V4*CC and STAT6-21*TT were associated with higher sensitization (mean wheal size ≥10 mm) to house dust (1.4-fold) and storage mite (7.8-fold). In Madeira, IL4-590C/T, IL4-RP2 253/183, GSDML-236C/T and ADAM33-V4C/G SNPs are important risk factors for asthma susceptibility and severity, with implications for asthma healthcare management.

  17. Case-control study of genetic and environmental influences on premature death of adult adoptees.

    Science.gov (United States)

    Petersen, Liselotte; Nielsen, Gert G; Andersen, Per Kragh; Sørensen, Thorkild I A

    2002-08-01

    Genetic and environmental influence on risk of premature death in adulthood was investigated by estimating the associations in total and cause-specific mortality of adult Danish adoptees and their biological and adoptive parents. Among all 14,427 nonfamilial adoptions formally granted in Denmark during the period 1923 through 1947, we identified 976 case families in which the adoptee died before a fixed date. As control families, we selected 976 families where the adoptees were alive on that date, and matched to the case adoptees with regard to gender and year and month of birth. The data were viewed as a cohort of case parents and a cohort of control parents, and lifetime distributions in the two cohorts were compared using a Cox regression, stratified with regard to the matching variables: gender and year of birth. In the main analyses, the sample was restricted with regard to birth year of the adoptees, and age of transfer to the adoptive parents, and age at death was restricted to the same range for parents and offspring (25-64 years) in order to consider a symmetric lifetime distribution. This reduces the sample to 459 case families and 738 control families. Various truncations, restrictions, and stratifications were used in order to examine the robustness of the results. The results showed a higher mortality among biological parents who had children dying in the age range 25 through 64 years, and this was significant for death from natural causes, infectious causes, vascular causes, and from all causes combined. There were no significant effects for the adoptive parents. This study supports that there are moderate genetic influences on the risk of dying prematurely in adulthood, and only a small, if any, effect of the family environment. Copyright 2002 Wiley-Liss, Inc.

  18. Soya food intake and risk of endometrial cancer among Chinese women in Shanghai: population based case-control study

    Science.gov (United States)

    Xu, Wang Hong; Zheng, Wei; Xiang, Yong Bing; Ruan, Zhi Xian; Cheng, Jia Rong; Dai, Qi; Gao, Yu Tang; Shu, Xiao Ou

    2004-01-01

    Objective To evaluate the association of intake of soya food, a rich source of phytoestrogens, with the risk of endometrial cancer. Design Population based case-control study, with detailed information on usual soya food intake over the past five years collected by face to face interview using a food frequency questionnaire. Setting Urban Shanghai, China. Participants 832 incident cases of endometrial cancer in women aged of 30 to 69 years diagnosed during 1997-2001 and identified from the Shanghai Cancer Registry; 846 control women frequency matched to cases on age and randomly selected from the Shanghai Residential Registry. Main outcome measures Odds ratios for risk of endometrial cancer in women with different intakes of soya foods. Results Regular consumption of soya foods, measured as amount of either soya protein or soya isoflavones, was inversely associated with the risk of endometrial cancer. Compared with women with the lowest quarter of intake, the adjusted odds ratio of endometrial cancer was reduced from 0.93 to 0.85 and 0.67 with increasing quarter of soya protein intake (P for trend 0.01). A similar inverse association was observed for soya isoflavones and soya fibre intake. The inverse association seemed to be more pronounced among women with high body mass index and waist:hip ratio. Conclusion Regular intake of soya foods is associated with a reduced risk of endometrial cancer. PMID:15136343

  19. Passive Smoking and Breast Cancer Risk among Non-Smoking Women: A Case-Control Study in China.

    Directory of Open Access Journals (Sweden)

    Bin Li

    Full Text Available The role of passive smoking on breast cancer risk was unclear. This study aimed to evaluate the association between passive smoking and breast cancer risk among Chinese women.A hospital-based case-control study, including 877 breast cancer cases and 890 controls, frequency-matched by age and residence, was conducted. A structured questionnaire was used to collect information on passive smoking history through face-to-face interview by trained interviewers. Unconditional logistic regression models were used to estimate the association between passive smoking and breast cancer risk. A positive association between any passive smoking exposure and breast cancer risk was observed. Compared with women who were never exposed to passive smoking, women who were ever exposed had a higher breast cancer risk, with the adjusted odds ratio (OR and 95% confidence interval (CI of 1.35 (1.11-1.65. Similar result was found on home passive smoking exposure and breast cancer risk, but not on workplace passive smoking exposure. Women who were ever exposed to tobacco smoke at home had a higher risk of breast cancer compared with never exposed women, with the adjusted OR (95% CI of 1.30 (1.05-1.61. Home passive smoking exposure showed significant dose-response relationships with breast cancer risk in smoker-years, cigarettes/day and total pack-years (Ptrend=0.003, 0.006 and 0.009, respectively. An increased total smoker-years of any passive exposure significantly elevated the risk of breast cancer (Ptrend<0.001. Positive associations and dose-response relationships were found among postmenopausal women and all subtypes of estrogen receptor (ER and progesterone receptor (PR status of breast cancer.Passive smoking was associated with an increased risk of breast cancer among non-smoking Chinese women. A stronger positive association with breast cancer risk was seen mainly among postmenopausal women.

  20. Occupation and breast cancer risk in Polish women: a population-based case-control study.

    Science.gov (United States)

    Peplonska, Beata; Stewart, Patricia; Szeszenia-Dabrowska, Neonila; Rusiecki, Jennifer; Garcia-Closas, Montserrat; Lissowska, Jolanta; Bardin-Mikolajczak, Alicja; Zatonski, Witold; Gromiec, Jan; Brzeznicki, Slawomir; Brinton, Louise A; Blair, Aaron

    2007-02-01

    The etiology of breast cancer is not well understood and the role of occupational exposures in breast carcinogenesis is still uncertain. The population-based case-control study included 2,386 incident breast cancer cases diagnosed in 2000-2003, and 2,502 controls. Lifetime occupational histories and information on other potential breast cancer risk factors were obtained through personal interviews. Conditional logistic regression analyses calculated odds ratios (ORs) associated with various occupations and industries after control for potential confounders. We found statistically significant excesses of breast cancer among engineers (OR=2.0; 95% CI: 1.0-3.8), economists (2.1; 1.1-3.8), sales occupations-retail (1.2; 1.0-1.5), and other sales occupations (1.2; 1.0-1.5). Industries showing significantly elevated risks included special trade contractors (2.2; 1.2-4.3), electronic and electric equipment manufacturers (1.7; 1.1-2.7); and public administration/general government n.e.c. (2.7; 1.3-5.7). Each of these findings was supported by a statistically significant positive trend for duration of employment (Pelectronic and electric equipment manufacturing industry and for the occupations with potential exposure to magnetic fields deserve further evaluation.

  1. A case-control study of lung cancer in Polish women

    Energy Technology Data Exchange (ETDEWEB)

    Rachtan, J. [M Sklodowska Curie Member Institute, Krakow (Poland)

    2002-07-01

    This study was undertaken to examine the influence of active and passive smoking, cancer family history, occupational exposure, usual diet and alcohol consumption on female lung cancer risk. A total of 242 women with histologically confirmed primary lung cancer and 352 healthy controls were involved in the study. All subjects were interviewed in the hospital. Data were analysed using multivariate logistic regression. Multivariate analysis has shown that smoking was the most strongly active risk factor in female lung cancer, Positive dose-response relationship was observed between lung cancer risk and number of pack-years. Passive smoking exposure during childhood significantly increased the risk (OR=2.65). There was also observed a significantly increased risk of lung cancer among women who had siblings with history of cancer (OR=3.42). Occupational exposure to coal dust, acid fumes (sulphuric and/or hydrochloric) and materials used for rubber making significantly increased the risk. Frequent intake of carrots (at least five times a week) and also daily intake of other vegetables significantly lowered the risk (OR=0.13, OR=0.24). A significant protective effect was also observed in women frequently using margarine on bread (OR=0.14). Vodka drinkers showed significantly higher risk than non-drinking women. The analysis of dose-response relationship in reference to vodka drinking, also confirmed significant influence of this factor on the risk.

  2. Safety and Efficacy of Ferric Carboxymaltose in Anemic Pregnant Women: A Retrospective Case Control Study

    NARCIS (Netherlands)

    Pels, Anouk; Ganzevoort, Wessel

    2015-01-01

    Background. Anemia during pregnancy is commonly caused by iron deficiency and can have severe consequences for both the mother and the developing fetus. The aim of this retrospective study was to assess the safety and efficacy of intravenous ferric carboxymaltose (FCM) in pregnant women. Methods.

  3. Helicobacter pylori infection in women with Hashimoto thyroiditis: A case-control study.

    Science.gov (United States)

    Shmuely, Haim; Shimon, Ilan; Gitter, Limor Azulay

    2016-07-01

    An association between Helicobacter pylori (H pylori) infection as environmental risk factors for Hashimoto thyroiditis (HT) has been reported. We investigated this hypothesis in women in which HT is more common. Serum immunoglobulin G antibodies against H pylori (enzyme-linked immunosorbent assay), CagA protein (Western blot assay), circulating antibodies to thyroid antigens, mainly thyroperoxidase (TPOAbs) and thyroglobulin (TgAbs), were tested in 101 females with HT and 111 non-HT control women without a history of autoimmune disease. Thyroid function, socioeconomic status at childhood, and family history of thyroid malfunction were also studied. Forty-seven HT women (46.5%) tested seropositive for H pylori versus 48 controls (43.2%; P = 0.63). The prevalence of anti-CagA antibodies was 21.3% in HT-infected patients and 31.2% in infected controls (P = 0.352). Women with HT were older than the controls at a significance level of 0.03, and higher prevalence of hypothyroidism (69% vs 13.5%, respectively) and family history of thyroid malfunction (59% vs 34%, respectively) (P thyroid malfunction was independently associated with an increased risk of HT (odds ratio 3.39, 95% confidence interval 1.86-6.18, P thyroid malfunction is a risk factor for HT.

  4. Predictors of HIV positivity among pregnant women presenting for obstetric care in South India - a case-control study.

    Science.gov (United States)

    Solomon, Eileen; Visnegarwala, Fehmida; Philip, Philimol; Alexander, Glory

    2011-10-01

    Feminization of the HIV epidemic in India has increasingly burdened the public health infrastructure to provide prevention of mother-to-child transmission (PMTCT) services. A mere 20% of pregnant women in the country receive HIV counseling and testing. One of the strategies, for expansion of PMTCT services is to ascertain an accurate identification of HIV-positive pregnant women. Thus, we sought to characterize a demographic profile of pregnant women at high-risk for HIV infection. We performed a retrospective case-control study. We included as cases, all HIV-positive women identified in a PMTCT program implemented in 23 charitable faith-based hospitals in four states in South India over a period of 75 months, starting in January 2003. Thus a total of 320 HIV-positive cases were frequency matched using stratified random sampling to 365 HIV-negative pregnant women presenting for antenatal care during the same time period. Cases and controls were compared using Chi-square test for categorical variables and Student's t-test for continuous variables. Multivariate step-wise logistic regression analysis was performed. On multivariate analysis, following factors were independently predictive of HIV positivity: age ≤25 years (odds ratio [OR] 0.50; confidence interval [CI] 0.33-0.76; p = 0.001); illiteracy (OR 4.89; CI 2.79-8.57; p women presenting for antenatal care in the Indian setting. This type of profiling of HIV-positive pregnant women may help expand PMTCT services in a focused and cost-effective manner in India.

  5. Increased Risk of Venous Thromboembolism in Women with Uterine Leiomyoma: A Nationwide, Population-Based Case-Control Study

    Science.gov (United States)

    Huang, Hung-Kai; Kor, Chew-Teng; Chen, Ching-Pei; Chen, Hung-Te; Yang, Po-Ta; Tsai, Chen-Dao; Huang, Ching-Hui

    2018-01-01

    Background Venous thromboembolism (VTE) is a sex-specific disease that has different presentations between men and women. Women with uterine leiomyoma can present with VTE without exhibiting the traditional risk factors. We investigated the relationship between a history of uterine leiomyoma and the risk of VTE using the National Health Insurance Research Database (NHIRD). Methods We conducted a retrospective, nationwide, population-based case-control study using the NHIRD. We identified 2,282 patients with diagnosed VTE and 392,635 subjects without VTE from 2000 to 2013. After development of an age and index diagnosis year frequency-matched model and propensity score-matched model, 2 models with a case-to-control ratio of 1 to 4 were established. Using the diagnosis of uterine leiomyoma as the exposure factor, conditional logistic regression was performed to examine the association between uterine leiomyoma and VTE. Multiple logistic regression analysis was used to investigate the joint effect of uterine leiomyoma and comorbid diseases on the risk of VTE. Results A strong association was observed between uterine leiomyoma and VTE in the overall patient model, frequency-matched model and propensity score-matched model [p leiomyoma who were ≥ 45 years old were less likely to experience VTE, but women with uterine leiomyoma and anemia, cancer, coronary artery disease or heart failure were more likely to experience VTE. Conclusions Women with uterine leiomyomas have an increased risk of developing VTE, especially during reproductive periods or in the presence of specific diseases. PMID:29375226

  6. Risk factors for breast cancer for women in Punjab, Pakistan:Results from a case-control study

    Directory of Open Access Journals (Sweden)

    Ghausia Masood Gilani

    2006-01-01

    Full Text Available Over the last three decades an increase in the incidence of breast cancer has been observed in the previously low-risk Asian countries. This study is designed to determine the risk factors of breast cancer for Pakistani women as little information exists in this regard. A case-control study of 564 female breast cancer cases diagnosed at the two cancer hospitals at Lahore (INMOL and SKMCH during the time period Jan 1, 1998 to Dec 31, 1998 was carried out. Four hundred and forty eight women aged 24-80 years out of 564 cases were complete with respect to defined criteria and were eligible for the study. Population-based controls were selected to match for age of cases in the ratio 1:2. The data were analyzed considering ‘all women’ and then separate analyses were done for ‘premenopausal’ and ‘postmenopausal women’. Women with family history of breast cancer, history of consanguineous marriage, smoking and high BMI (≥28 are at increased risk of breast cancer for all three groups. Early menarche (45 years was a strong determinant of breast cancer. Higher number of full-term pregnancies (>3 was protective for ‘all women’ and ‘premenopausal women’ but in case of ‘postmenopausal women’ the poor with higher number of pregnancies were significantly protected. Late age at first FTP (>25 years is a significant risk factor for postmenopausal women.

  7. Fertility drug use and the risk of ovarian tumors in infertile women: a case-control study.

    Science.gov (United States)

    Asante, Albert; Leonard, Phoebe H; Weaver, Amy L; Goode, Ellen L; Jensen, Jani R; Stewart, Elizabeth A; Coddington, Charles C

    2013-06-01

    To assess the influence of infertility and fertility drugs on risk of ovarian tumors. Case-control study (Mayo Clinic Ovarian Cancer Study). Ongoing academic study of ovarian cancer. A total of 1,900 women (1,028 with ovarian tumors and 872 controls, frequency matched on age and region of residence) who had provided complete information in a self-report questionnaire about history of infertility and fertility drug use. None. Effect of infertility history, use of fertility drugs and oral contraception, and gravidity on the risk of ovarian tumor development, after controlling for potential confounders. Among women who had a history of infertility, use of fertility drugs was reported by 44 (24%) of 182 controls and 38 (17%) of 226 cases. Infertile women who used fertility drugs were not at increased risk of developing ovarian tumors compared with infertile women who did not use fertility drugs; the adjusted odds ratio was 0.64 (95% CI, 0.37, 1.11). The findings were similar when stratified by gravidity and when analyzed separately for borderline versus invasive tumors. We found no statistically significant association between fertility drug use and risk of ovarian tumors. Further larger, prospective studies are needed to confirm this observation. Published by Elsevier Inc.

  8. Association between group A beta-haemolytic streptococci and vulvovaginitis in adult women: a case-control study.

    Science.gov (United States)

    Bruins, M J; Damoiseaux, R A M J; Ruijs, G J H M

    2009-08-01

    Guidelines for the management of vaginal discharge mention Candida albicans, Trichomonas vaginalis, bacterial vaginosis, Chlamydia trachomatis and Neisseria gonorrhoeae as causes and do not recommend full microbiological culture. The role of non-group B beta-haemolytic streptococci in vaginal cultures is unclear, except for group A streptococci that are known to cause vulvovaginitis in children. In a case-control study, we investigated the association between non-group B beta-haemolytic streptococci and vulvovaginitis in adult women. Cases were women with recurrent vaginal discharge from whom a sample was cultured. Controls were asymptomatic women who consented to submitting a vaginal swab. Group A streptococci were isolated from 49 (4.9%) of 1,010 cases and not from the 206 controls (P < 0.01). Isolation rates of group C, F and G streptococci were low and did not differ statistically between cases and controls. Group A beta-haemolytic streptococci are associated with vaginal discharge in adult women. The other non-group B streptococci require more study. For the adequate management of vaginal discharge, culturing is necessary if initial treatment fails. Guidelines should be amended according to these results.

  9. Looking for Celiac Disease in Italian Women with Endometriosis: A Case Control Study

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    Luca Santoro

    2014-01-01

    Full Text Available In the last years, a potential link between endometriosis and celiac disease has been hypothesized since these disorders share some similarities, specifically concerning a potential role of oxidative stress, inflammation, and immunological dysfunctions. We investigated the prevalence of celiac disease among Italian women with endometriosis with respect to general population. Consecutive women with a laparoscopic and histological confirmed diagnosis of endometriosis were enrolled; female nurses of our institution, without a known history of endometriosis, were enrolled as controls. IgA endomysial and tissue transglutaminase antibodies measurement and serum total IgA dosage were performed in both groups. An upper digestive endoscopy with an intestinal biopsy was performed in case of antibodies positivity. Presence of infertility, miscarriage, coexistence of other autoimmune diseases, and family history of autoimmune diseases was also investigated in all subjects. Celiac disease was diagnosed in 5 of 223 women with endometriosis and in 2 of 246 controls (2.2% versus 0.8%; P=0.265. Patients with endometriosis showed a largely higher rate of infertility compared to control group (27.4% versus 2.4%; P<0.001. Our results confirm that also in Italian population an increased prevalence of celiac disease among patients with endometriosis is found, although this trend does not reach the statistical significance.

  10. Weight, height, body mass index and risk of breast cancer in postmenopausal women: a case-control study

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    Vahdaninia Mariam

    2008-09-01

    Full Text Available Abstract Background Many women in Iran have a relatively high body mass index. To investigate whether the condition contributes to excess breast cancer cases, a case-control study was conducted to assess the relationships between anthropometric variables and breast cancer risk in Tehran, Iran. Methods All incident cases of breast cancer in the Iranian Centre for Breast Cancer (ICBC were identified through the case records. Eligible cases were all postmenopausal women with histological confirmed diagnosis of breast cancer during 1996 to year 2000. Controls were randomly selected postmenopausal women attending the ICBC for clinical breast examination during the same period. The body mass index (BMI was calculated based on weights and heights as measured by the ICBC nursing staff. Both tests for trend and logistic regression analysis were performed to calculate odds ratios and 95% confidence intervals as measures of relative risk. Results In all, 116 breast cancer cases and 116 controls were studied. There were no significant differences between cases and control with regard to most independent variables studied. However, a significant difference was observed between cases and controls indicating that the mean BMI was higher in cases as compared to controls (P = 0.004. Performing logistic regression analysis while controlling for age, age at menopause, family history of breast cancer and parity, the results showed that women with a BMI in the obese range had a three fold increased risk of breast cancer [odds ratio (OR = 3.21, 95% confidence interval (CI: 1.15–8.47]. Conclusion The results suggest that obesity in postmenopausal women could increase risk of breast cancer and it merits further investigation in populations such as Iran where it seems that many women are short in height, and have a relatively high body mass index.

  11. The impact of socioeconomic position on severe maternal morbidity outcomes among women in Australia: a national case-control study.

    Science.gov (United States)

    Lindquist, A; Noor, N; Sullivan, E; Knight, M

    2015-11-01

    Studies in other developed countries have suggested that socioeconomic position may be a risk factor for poorer pregnancy outcomes. This analysis aimed to explore the independent impact of socioeconomic position on selected severe maternal morbidities among women in Australia. A case-control study using data on severe maternal morbidities associated with direct maternal death collected through the Australasian Maternity Outcomes Surveillance System. Australia. 623 cases, 820 controls. Logistic regression analysis to investigate differences in outcomes among different socioeconomic groups, classified by Socio-Economic Indexes for Areas (SEIFA) quintile. Severe maternal morbidity (amniotic fluid embolism, placenta accreta, peripartum hysterectomy, eclampsia or pulmonary embolism). SEIFA quintile was statistically significantly associated with maternal morbidity, with cases being twice as likely as controls to reside in the most disadvantaged areas (adjusted OR 2.00, 95%CI 1.29-3.10). Maternal age [adjusted odds ratio (aOR) 2.20 for women aged 35 or over compared with women aged 25-29, 95%CI 1.64-3.15] and previous pregnancy complications (aOR 1.30, 95%CI 1.21-1.87) were significantly associated with morbidity. A parity of 1 or 2 was protective (aOR 0.58, 95%CI 0.43-0.79), whereas previous caesarean delivery was associated with maternal morbidity (aOR 2.20 for women with one caesarean delivery, 95%CI 1.44-2.85, compared with women with no caesareans). The risk of severe maternal morbidity among women in Australia is significantly increased by social disadvantage. This study suggests that future efforts in improving maternity care provision and maternal outcomes in Australia should include socioeconomic position as an independent risk factor for adverse outcome. © 2014 Royal College of Obstetricians and Gynaecologists.

  12. Family history of hypertension increases risk of preeclampsia in pregnant women: a case-control study

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    Mulualem Endeshaw

    2016-12-01

    Advanced maternal age (AOR=4.79;95% CI 1.031-22.18, family history of hypertension (AOR=11.16;95% CI 5.41-41.43, history of diabetes mellitus (AOR=6.17;95% CI 2.11-20.33, UTI in the current pregnancy (AOR=6.58;95% CI 2.93-14.73, failure to comply with iron and folic acid supplement during pregnancy (AOR=8.32;95% CI 3.35-20.62, lack of exercise (AOR=3.33;95% CI 1.35-8.17, multiple pregnancy (AOR=4.05;95% CI 1.57-12.27, anemia (AOR=4.19;95% CI 1.27-13.92, and periodontal disease or gingivitis (AOR =3.51;95% CI 1.14-10.83 were associated with preeclampsia. Conclusion Family history of hypertension was the most dominant risk factor for preeclampsia in pregnant women. Encouraging pregnant women to have health seeking behavior during pregnancy would provide a chance to diagnose preeclampsia as early as possible.

  13. Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies

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    Finch Stephen J

    2005-04-01

    Full Text Available Abstract Background Phenotype error causes reduction in power to detect genetic association. We present a quantification of phenotype error, also known as diagnostic error, on power and sample size calculations for case-control genetic association studies between a marker locus and a disease phenotype. We consider the classic Pearson chi-square test for independence as our test of genetic association. To determine asymptotic power analytically, we compute the distribution's non-centrality parameter, which is a function of the case and control sample sizes, genotype frequencies, disease prevalence, and phenotype misclassification probabilities. We derive the non-centrality parameter in the presence of phenotype errors and equivalent formulas for misclassification cost (the percentage increase in minimum sample size needed to maintain constant asymptotic power at a fixed significance level for each percentage increase in a given misclassification parameter. We use a linear Taylor Series approximation for the cost of phenotype misclassification to determine lower bounds for the relative costs of misclassifying a true affected (respectively, unaffected as a control (respectively, case. Power is verified by computer simulation. Results Our major findings are that: (i the median absolute difference between analytic power with our method and simulation power was 0.001 and the absolute difference was no larger than 0.011; (ii as the disease prevalence approaches 0, the cost of misclassifying a unaffected as a case becomes infinitely large while the cost of misclassifying an affected as a control approaches 0. Conclusion Our work enables researchers to specifically quantify power loss and minimum sample size requirements in the presence of phenotype errors, thereby allowing for more realistic study design. For most diseases of current interest, verifying that cases are correctly classified is of paramount importance.

  14. [Domestic and family violence against women: a case-control study with victims treated in emergency rooms].

    Science.gov (United States)

    Garcia, Leila Posenato; Duarte, Elisabeth Carmen; Freitas, Lúcia Rolim Santana de; Silva, Gabriela Drummond Marques da

    2016-01-01

    This study aimed to identify factors associated with treatment of victims of domestic and family violence in emergency rooms in Brazil. This is a case-control study based on the Surveillance System for Violence and Accidents (VIVA), 2011. Women ≥ 18 years who were victims of family and domestic violence were selected as cases and compared to accident victims (controls). Adjusted odds ratios were estimated by unconditional logistic regression. 623 cases and 10,120 controls were included. Risk factors according to the adjusted analysis were younger age (18-29 years), low schooling, lack of paid work, alcohol consumption, having sought treatment in a different health service, and violence on weekends or at night or in the early morning hours. The study concludes that domestic and family violence shows alcohol consumption as a strongly associated factor. Days and hours with the highest ocurrence reveal the need to adjust emergency services to treat victims.

  15. Physical activity in adolescence and abdominal obesity in adulthood: a case-control study among women shift workers.

    Science.gov (United States)

    Garcez, Anderson da Silva; Olinto, Maria Teresa Anselmo; Canuto, Raquel; Olinto, Beatriz Anselmo; Pattussi, Marcos Pascoal; Paniz, Vera Maria Vieira

    2015-01-01

    Physical activity may have a protective effect against abdominal obesity, an important risk factor for cardiometabolic diseases. Thus, the aim of this study was to examine the association between the practice of physical activities in adolescence and abdominal obesity in adulthood among women shift workers in Southern Brazil in 2011. This case-control study included 215 cases (waist circumference greater than or equal to 88 cm) and 326 controls. For both the case and control groups, participation in leisure-time physical activities was most frequent in adolescence and was significantly less in adulthood. After adjusting for potential confounding factors, women who participated in five or more physical activities in adolescence were 50 percent less likely to have abdominal obesity than women who participated in one activity or no physical activities (Odds Ratio = 0.50; 95% confidential interval: 0.27-0.93, p value = .029). Participation in various types of leisure-time physical activities in adolescence may protect against abdominal obesity in adulthood, even if the number of physical activities decreases over time. This finding demonstrated the importance of physical activity as well as the period of life in which these should be encouraged for the prevention of health disorders, such as abdominal obesity.

  16. Hormonal contraceptive use and risk of glioma among younger women a nationwide case-control study

    DEFF Research Database (Denmark)

    Andersen, Lene; Friis, Søren; Hallas, Jesper

    2015-01-01

    AIM: Oral contraceptive use influences the risk for certain cancers; however, few studies have examined any link with risk of central nervous system tumors. We investigated the association between hormonal contraceptive use and glioma risk among premenopausal women in a population-based setting...... risk set sampling. Based on prescription data, exposure until 2 years prior to the index date was categorized according to hormonal contraceptive type, i.e., combined estrogen-progestagen or progestagen-only, and duration of use (... to compute odds ratios (ORs) with 95% confidence intervals (CIs) for glioma associated with hormonal contraceptive use, adjusting for potential confounders. RESULTS: We identified 317 cases and 2,126 controls. Ever use of hormonal contraceptive was associated with an OR of 1.5 (95% CI: 1...

  17. DNA methylation profiles of polycystic ovarian syndrome in Chinese women: A case-control study

    DEFF Research Database (Denmark)

    Li, Shuxia; Duan, Hongmei; Zhu, D

    As a universally common endocrinopathy in women of reproductive age, the polycystic ovarian syndrome is characterized by composite clinical phenotypes refl ecting the contributions of reproductive impact of ovarian dysfunction and metabolic abnormalities with widely varying symptoms resulting from...... interference of the genome with the environment through integrative biological mechanisms including epigenetics. We have performed a genome-wide DNA methylation analysis on polycystic ovarian syndrome using Illumina’s HumanMethylation450 BeadChip array. We identifi ed a substantial number of genomic sites diff...... rateovarian tissue under PCOS condition. Most importantly, our genome-wide profi ling focusing on PCOS patients revealed a large number of DNA methylation sites and their enriched functional pathways signifi cantly associated with diverse...

  18. Determinants of Desire for Children among HIV-Positive Women in the Afar Region, Ethiopia: Case Control Study.

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    Fatimetu Mohammed

    Full Text Available The desire for a child in Ethiopian society is normal. Among HIV positive women, due to the risk of MTCT, it is imperative to understand factors influencing women's desire for children. This study aimed at assessing factors associated with desire for children among HIV-positive women in two selected hospitals of Afar Regional State, Ethiopia.A facility based case-control study was conducted among 157 cases (with a desire and 157 controls of HIV positive individuals registered in the selected health facilities. The participants were selected by random sampling technique. Data were collected using face-to-face interview and was analyzed using logistic regression.Factors found to be independently associated with desire for children were age categories of 20-24 years (OR = 6.22, 1.29-10.87 and 25-29 years (OR = 14.6, 3.05-21.60, being married (OR = 5.51, 2.19-13.54, Afar ethnicity (OR 6.93, 1.19-12.14, having HIV-positive children (OR 0.23, 0.09-0.63, duration on ART more than one year (3.51, 1.68-9.05, CD4 count greater than 350 (OR 4.83, 1.51-7.27 and discussion of reproductive health issues with health providers (OR 0.31, 0.12-0.51.Women who were young, married, Afar, those who received ART more than one year, and had CD4 count >350 were more likely to have a desire for children.Health care workers at ART clinic should openly discuss about the reproductive options for the women living with HIV/AIDS.

  19. Association of Oxidative Stress Biomarkers with Gestational Diabetes Mellitus in Pregnant Women: A Case-Control Study

    Science.gov (United States)

    Zhu, Chunyan; Yang, Hongling; Geng, Qingshan; Ma, Qingling; Long, Yan; Zhou, Cheng; Chen, Ming

    2015-01-01

    Objective The relationship between gestational diabetes mellitus (GDM) and oxidative stress has not been fully elucidated. This study examined the association between biomarkers of oxidative stress and GDM. Methods We conducted a case-control study which included 36 women presenting with GDM and 36 asymptomatic matched control subjects who visited Guangzhou Women and Children’s Medical Centre, China, from June 2012 to December 2012. Pregnant women were prospectively recruited to the study, and blood samples were collected at the time of a routine oral glucose tolerance test. These samples were then analyzed for levels of endocrine and surrogate markers of oxidative stress. Results Compared to control subjects, women with GDM exhibited elevated values for plasma glucose, insulin, and insulin resistance (IR), and showed reduced HOMA pancreatic β-cell function (HOMA-B), insulin sensitivity index (ISI), insulinogenic index, and corrected insulin response at 24–28 weeks gestation. A bivariate logistic regression analysis showed that levels of high-sensitivity C reactive protein (hs-CRP) and high fluorescence reticulocytes at fasting, and hs-CRP in a 1-h OGTT, were significantly associated with GDM. A linear regression analysis showed that levels of hs-CRP (P = 0.003) and reticulocytes (P = 0.029) at fasting were associated with IR, and levels of hs-CRP (P = 0.002) and monocytes (P = 0.006) in a 1-h OGTT were associated with ISI. Conclusions Pregnant women with GDM developed a pathological IR and exhibited β-cell dysfunction. Their decreased ability to compensate for oxidative stress was associated with increased IR and a reduced ISI, which might be important factors in GDM. PMID:25915047

  20. Association of oxidative stress biomarkers with gestational diabetes mellitus in pregnant women: a case-control study.

    Directory of Open Access Journals (Sweden)

    Chunyan Zhu

    Full Text Available The relationship between gestational diabetes mellitus (GDM and oxidative stress has not been fully elucidated. This study examined the association between biomarkers of oxidative stress and GDM.We conducted a case-control study which included 36 women presenting with GDM and 36 asymptomatic matched control subjects who visited Guangzhou Women and Children's Medical Centre, China, from June 2012 to December 2012. Pregnant women were prospectively recruited to the study, and blood samples were collected at the time of a routine oral glucose tolerance test. These samples were then analyzed for levels of endocrine and surrogate markers of oxidative stress.Compared to control subjects, women with GDM exhibited elevated values for plasma glucose, insulin, and insulin resistance (IR, and showed reduced HOMA pancreatic β-cell function (HOMA-B, insulin sensitivity index (ISI, insulinogenic index, and corrected insulin response at 24-28 weeks gestation. A bivariate logistic regression analysis showed that levels of high-sensitivity C reactive protein (hs-CRP and high fluorescence reticulocytes at fasting, and hs-CRP in a 1-h OGTT, were significantly associated with GDM. A linear regression analysis showed that levels of hs-CRP (P = 0.003 and reticulocytes (P = 0.029 at fasting were associated with IR, and levels of hs-CRP (P = 0.002 and monocytes (P = 0.006 in a 1-h OGTT were associated with ISI.Pregnant women with GDM developed a pathological IR and exhibited β-cell dysfunction. Their decreased ability to compensate for oxidative stress was associated with increased IR and a reduced ISI, which might be important factors in GDM.

  1. Hormonal exposures and the risk of intracranial meningioma in women: a population-based case-control study

    International Nuclear Information System (INIS)

    Custer, Brian; Longstreth, WT Jr; Phillips, Leslie E; Koepsell, Thomas D; Van Belle, Gerald

    2006-01-01

    The role of exogenous hormone exposures in the development of meningioma is unclear, but these exposures have been proposed as one hypothesis to explain the over-abundance of such tumors in women. The association between oral contraception (OC) or hormone replacement therapy (HRT) and intracranial meningioma in women was investigated using a population-based, matched case-control study. Exposures for 143 cases and 286 controls matched on age within five years were obtained by interview. Diagnoses were confirmed histopathologically and estrogen and progesterone receptor assays conducted. Although risk of meningioma appeared modestly elevated in past OC users (OR = 1.5, 95% CI 0.8 – 2.7), and in current users (OR = 2.5, 95% CI 0.5 – 12.6), the confidence intervals were wide. No significant association between meningioma risk and duration of OC use was found. Likewise, risk of meningioma was only weakly associated with past use of HRT (OR = 0.7, 95% CI 0.4 – 1.3), and not at all with current use of HRT (OR = 1.0, 95% CI 0.5 – 2.2). Of 142 available specimens, 2 (1%) expressed estrogen receptors, whereas 130 (92%) expressed progesterone receptors (PR). OC use was associated with increased risk of a meningioma expressing less rather than more PR (OR = 3.2, 95% CI 1.3 – 8.0). Overall, in post menopausal women, HRT use appeared to confer a non-significant protective effect, and was not associated with low or high PR expressing meningiomas. This study found little evidence of associations between meningioma and exogenous hormone exposures in women but did suggest that some hormonal exposures may influence tumor biology in those women who develop meningioma

  2. Neck circumference might predict gestational diabetes mellitus in Han Chinese women: A nested case-control study.

    Science.gov (United States)

    He, Fang; He, Hua; Liu, Wenqi; Lin, Junyu; Chen, Bingjun; Lin, Yucong; Zhao, Yitao; Tao, Wen; Xia, Xuefeng

    2017-03-01

    A large neck circumference might be an indicator of metabolic syndrome and its components, and for certain patients is more practical as an index than waist circumference. The demarcation value for neck circumference that suggests metabolic syndrome appears to vary by ethnic group. Gestational diabetes mellitus is considered a component of metabolic syndrome in pregnant women. We investigated whether neck circumference in Han Chinese women is associated with gestational diabetes mellitus in early pregnancy, and determined a predictive demarcation value. A nested case-control study was carried out with 255 women aged 18-35 years. Gestational diabetes mellitus was diagnosed according to the criteria of the American Diabetes Association through a 2-h, 75-g oral glucose tolerance test. Of the total population, 41 (16%) women developed gestational diabetes mellitus by 24-28 weeks of gestation. Neck circumference at gestational week 16 positively correlated with pre-pregnancy waist circumference, bodyweight and body mass index, and maternal age (P = 0.029) and hemoglobin A1c at gestational week 24 (P ≤ 0.001). By binary logistic regression, neck circumference was an independent predictor of gestational diabetes mellitus (odds ratio 1.840, 95% confidence interval 1.040-3.254; P = 0.036). According to the receiver operating characteristic curve, for predicting gestational diabetes mellitus the optimal demarcation for neck circumference at gestational week 16 was 35.15 cm. Neck circumference is a viable tool to screen for gestational diabetes mellitus. In this population of pregnant Han Chinese women, a neck circumference of ≥35.15 cm was a predictor of gestational diabetes mellitus. © 2016 The Authors. Journal of Diabetes Investigation published by Asian Association for the Study of Diabetes (AASD) and John Wiley & Sons Australia, Ltd.

  3. Correlation of Serum Lipoprotein Ratios with Insulin Resistance in Infertile Women with Polycystic Ovarian Syndrome: A Case Control Study.

    Science.gov (United States)

    Ghaffarzad, Aisa; Amani, Reza; Mehrzad Sadaghiani, Mahzad; Darabi, Masoud; Cheraghian, Bahman

    2016-01-01

    Dyslipidemia and insulin resistance (IR), occurring in most infertile women with polycystic ovarian syndrome (PCOS), increase the risk of cardiovascular disease (CVD) and type 2 diabetes. This study aimed to assess the relationships between lipoprotein ratios and IR in PCOS women. Thirty six infertile women with PCOS selected based on Androgen Excess Society (AES) criteria and 29 healthy women matched for age were recruited to this case-control study. After physical measurements, fasting serum glucose (Glu), insulin and lipid profile levels [triglycerides (TGs), total cholesterol (TC), low-density lipoproteincholesterol (LDL-C) and high-density lipoprotein-cholesterol (HDL-C)] were measured, while lipoprotein ratios (TC/HDL-C, LDL-C/HDL-C, TG/HDL-C) were calculated. IR was also calculated using homeostasis model assessment (HOMA)-IR. The optimal cutoffs of lipoprotein ratios in relation to HOMA-IR were calculated based on the Receiver Operating Characteristics (ROC) curve analysis using the area under curve (AUC). Waist circumference (WC), insulin levels, HOMA-IR, TG levels, and all lipoprotein ratios were significantly higher, while HDL-C was lower in PCOS group as compared to healthy controls. All lipoprotein ratios, TG levels, and WC are significantly correlated with insulin levels and HOMA-IR. Among lipoprotein ratios, the highest AUC of the ROC belonged to TG/HDL-C ratio with sensitivity of 63.6% and specificity of 84.4% (TG/HDL-C>3.19) as a marker of IR in infertile PCOS women. Lipoprotein ratios, particularly TG/HDL-C, are directly correlated with insulin levels and can be used as a marker of IR (HOMA-IR) in infertile PCOS patients.

  4. Correlation of Serum Lipoprotein Ratios with Insulin Resistance in Infertile Women with Polycystic Ovarian Syndrome: A Case Control Study

    Directory of Open Access Journals (Sweden)

    Aisa Ghaffarzad

    2016-05-01

    Full Text Available Background: Dyslipidemia and insulin resistance (IR, occurring in most infertile women with polycystic ovarian syndrome (PCOS, increase the risk of cardiovascular disease (CVD and type 2 diabetes. This study aimed to assess the relationships between lipoprotein ratios and IR in PCOS women. Materials and Methods: Thirty six infertile women with PCOS selected based on Androgen Excess Society (AES criteria and 29 healthy women matched for age were recruited to this case-control study. After physical measurements, fasting serum glucose (Glu, insulin and lipid profile levels [triglycerides (TGs, total cholesterol (TC, low-density lipoproteincholesterol (LDL-C and high-density lipoprotein-cholesterol (HDL-C] were measured, while lipoprotein ratios (TC/HDL-C, LDL-C/HDL-C, TG/HDL-C were calculated. IR was also calculated using homeostasis model assessment (HOMA-IR. The optimal cutoffs of lipoprotein ratios in relation to HOMA-IR were calculated based on the Receiver Operating Characteristics (ROC curve analysis using the area under curve (AUC. Results: Waist circumference (WC, insulin levels, HOMA-IR, TG levels, and all lipoprotein ratios were significantly higher, while HDL-C was lower in PCOS group as compared to healthy controls. All lipoprotein ratios, TG levels, and WC are significantly correlated with insulin levels and HOMA-IR. Among lipoprotein ratios, the highest AUC of the ROC belonged to TG/HDL-C ratio with sensitivity of 63.6% and specificity of 84.4% (TG/HDL-C>3.19 as a marker of IR in infert ile PCOS women. Conclusion: Lipoprotein ratios, particularly TG/HDL-C, are directly correlated with insulin levels and can be used as a marker of IR (HOMA-IR in infertile PCOS patients.

  5. Increased Urinary Phthalate Levels in Women with Uterine Leiomyoma: A Case-Control Study.

    Science.gov (United States)

    Kim, Young Ah; Kho, Younglim; Chun, Kyoung Chul; Koh, Jae Whoan; Park, Jeong Woo; Bunderson-Schelvan, Melisa; Cho, Yoon Hee

    2016-12-15

    We assessed the urinary concentration of 16 phthalate metabolites in 57 women with and without uterine leiomyoma ( n = 30 and 27; respectively) to determine the association between phthalate exposure and uterine leiomyoma. To evaluate exposure to di-(2-ethylhexyl) phthalate (DEHP); we calculated the molar sum of DEHP metabolites; ∑3-DEHP (combining mono-(2-ethylhexyl) phthalate (MEHP); mono-(2-ethyl-5-hydroxyhexyl) phthalate (MEHHP); and mono-(2-ethyl-5-oxohexyl) phthalate); ∑4-DEHP (∑3-DEHP plus mono-(2-ethyl-5-carboxypentyl) phthalate); and ∑5-DEHP (∑4-DEHP plus mono (2-(carboxylmethyl)hexyl) phthalate (2cx-MMHP)). The log transformed urinary levels of MEHP; MEHHP; 2cx-MMHP; ∑3-DEHP; ∑4-DEHP; and ∑5-DEHP in the leiomyoma group were significantly higher than those of controls. When we adjusted for age; waist circumference; and parity using multiple logistic regression analyses; we found log ∑3-DEHP (OR = 10.82; 95% CI = 1.25; 93.46) and ∑4-DEHP (OR = 8.78; 95% CI = 1.03; 75.29) were significantly associated with uterine leiomyoma. Our findings suggest an association between phthalate exposure and uterine leiomyoma. However; larger studies are needed to investigate potential interactions between phthalate exposure and uterine leiomyoma.

  6. Clinical characterization of women with burning mouth syndrome in a case-control study.

    Science.gov (United States)

    Acharya, Shikha; Carlén, Anette; Wenneberg, Bengt; Jontell, Mats; Hägglin, Catharina

    2018-05-01

    Burning mouth syndrome (BMS) is a chronic orofacial pain disorder that is defined by a burning sensation in the oral mucosa. The aim of this study was to investigate the underlying factors, clinical characteristics and self-reported oral and general health factors associated with BMS. Fifty-six women with BMS (mean age: 67.7) and their age-matched controls were included in the study. A general questionnaire, an OHRQL index and BMS-specific questionnaires were used. Each subject underwent an oral examination. The mean severity of the BMS symptoms (VAS, 0-100) was 66.2 (SD 19.7). Overall, 45% of the patients reported taste disturbances. More of the patients than the controls rated their general health, oral health and life situation as 'less satisfactory'. The patients also reported more frequently on-going medications, diseases/disorders, xerostomia, allergy and skin diseases. Except for more bruxofacets among the patients, there were no significant differences regarding signs of parafunction. In a multiple logistic regression analysis, xerostomia and skin diseases showed the strongest prediction for BMS and no significant effect was found for medication, allergy or bruxofacets. Skin diseases and xerostomia but not parafunction were strongly associated with BMS. Our findings provide the basis for additional studies to elucidate the causal factors of BMS.

  7. Genetic and environmental risk factors for rheumatoid arthritis in a UK African ancestry population: the GENRA case-control study.

    Science.gov (United States)

    Traylor, Matthew; Curtis, Charles; Patel, Hamel; Breen, Gerome; Hyuck Lee, Sang; Xu, Xiaohui; Newhouse, Stephen; Dobson, Richard; Steer, Sophia; Cope, Andrew P; Markus, Hugh S; Lewis, Cathryn M; Scott, Ian C

    2017-08-01

    To evaluate whether genetic and environmental factors associated with RA in European and Asian ancestry populations are also associated with RA in African ancestry individuals. A case-control study was undertaken in 197 RA cases and 868 controls of African ancestry (Black African, Black Caribbean or Black British ethnicity) from South London. Smoking and alcohol consumption data at RA diagnosis was captured. Genotyping was undertaken (Multi-Ethnic Genotyping Array) and human leukocyte antigen (HLA) alleles imputed. The following European/Asian RA susceptibility factors were tested: 99 genome-wide loci combined into a genetic risk score; HLA region [20 haplotypes; shared epitope (SE)]; smoking; and alcohol consumption. The SE was tested for its association with radiological erosions. Logistic regression models were used, including ancestry-informative principal components, to control for admixture. European/Asian susceptibility loci were associated with RA in African ancestry individuals. The genetic risk score provided an odds ratio (OR) for RA of 1.53 (95% CI: 1.31, 1.79; P = 1.3 × 10 - 7 ). HLA haplotype ORs in European and African ancestry individuals were highly correlated ( r = 0.83, 95% CI: 0.56, 0.94; P = 1.1 × 10 - 4 ). Ever-smoking increased (OR = 2.36, 95% CI: 1.46, 3.82; P = 4.6 × 10 - 4 ) and drinking alcohol reduced (OR = 0.34, 95% CI: 0.20, 0.56; P = 2.7 × 10 - 5 ) RA risk in African ancestry individuals. The SE was associated with erosions (OR = 2.61, 95% CI: 1.36, 5.01; P = 3.9 × 10 - 3 ). Gene-environment RA risk factors identified in European/Asian ancestry populations are relevant in African ancestry individuals. As modern statistical methods facilitate analysing ancestrally diverse populations, future genetic studies should incorporate African ancestry individuals to ensure their implications for precision medicine are universally applicable. © The Author 2017. Published by Oxford University Press on behalf of the British Society for

  8. Determinants of vct uptake among pregnant women attending two ANC clinics in Addis Ababa City: unmatched case control study.

    Science.gov (United States)

    Maedot, Paulos; Haile, Amaha; Lulseged, Sileshi; Belachew, Ayele

    2007-10-01

    With HAART PMTCT interventions can reduce the risk of MTCT below 2%. However, low uptake of VCT is challenging effectiveness of PMTCT programs in sub-Saharan Africa. The aim of this study is to identify factors that determine VCT uptake among pregnant women attending ANC services. A case-control study was conducted from August 30, 2005 - November 30, 2005 among pregnant women attending ANC PMTCT services at Teklehaimanot Health Center and Gandhi memorial Hospital in Addis Ababa City. Cases were pregnant mothers who accepted VCT (n=202) and controls were pregnant mothers who refused VCT (n=200). Data was collected by counselor nurses working at the respective services Factors that determine VCT acceptance were women's perceived ability to cope with a positive result (OR = 5.5, 95% CI 3.5-8.5, MHOR = 6.3, 95% CI 3.9-10.2); perceived favorable reaction of husband's after sharing positive test result (OR = 2.7 95% CI 1.4-5.1, MHOR = 2.9, 95% CI 1.4-5.7); perceived positive community response (OR = 2.2 95% CI 1.1-4.2, MHOR = 2.6 95% CI 1.3-5.2); perceived ability to get continuous medical care if found out to be positive (OR = 2.0, 95% CI 1.2-3.5, MHOR = 2.4, 95% CI 1.3-4.5). Women's perceived ability to cope with a positive result, accesses to medical care, fear of husband's negative reaction and the stigma and discrimination following a positive test result were key determinants of uptake of VCT. Therefore, increasing uptake of VCT/PMTCT services needs policy makers and service providers' effort to promote couple counseling, intensifying the fight against stigma and discrimination and ensuring continuous HIV/AIDS related medical care.

  9. Leptin receptor Gln223Arg polymorphism and breast cancer risk in Nigerian women: A case control study

    International Nuclear Information System (INIS)

    Okobia, Michael N; Taioli, Emanuela; Bunker, Clareann H; Garte, Seymour J; Zmuda, Joseph M; Ezeome, Emmanuel R; Anyanwu, Stanley N; Uche, Emmanuel E; Kuller, Lewis H; Ferrell, Robert E

    2008-01-01

    Leptin, a 16 kDa polypeptide hormone, implicated in various physiological processes, exerts its action through the leptin receptor, a member of the class I cytokine receptor family. Both leptin and leptin receptor have recently been implicated in processes leading to breast cancer initiation and progression in animal models and humans. An A to G transition mutation in codon 223 in exon 6 of the leptin receptor gene, resulting in glutamine to arginine substitution (Gln223Arg), lies within the first of two putative leptin-binding regions and may be associated with impaired signaling capacity of the leptin receptor. This study was designed to assess the role of this polymorphism in breast cancer susceptibility in Nigerian women. We utilized a polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay to evaluate the association between the Gln223Arg polymorphism of the leptin receptor gene and breast risk in Nigeria in a case control study involving 209 women with breast cancer and 209 controls without the disease. Study participants were recruited from surgical outpatient clinics and surgical wards of four University Teaching Hospitals located in Midwestern and southeastern Nigeria between September 2002 and April 2004. Premenopausal women carrying at least one LEPR 223Arg allele were at a modestly increased risk of breast cancer after adjusting for confounders (OR = 1.8, 95% confidence interval [CI] 1.0–3.2, p = 0.07). There was no association with postmenopausal breast cancer risk (OR = 0.9, 95% CI 0.4–1.8, p = 0.68). Our results suggest that the LEPR Gln223Arg polymorphism in the extracellular domain of the LEPR receptor gene is associated with a modestly increased risk of premenopausal breast cancer in Nigerian women

  10. Clinical factors associated with readmission for postpartum hypertension in women with pregnancy-related hypertension: a nested case control study.

    Science.gov (United States)

    Hirshberg, A; Levine, L D; Srinivas, S K

    2016-05-01

    To evaluate the association between mode of delivery and length of labor on readmission for postpartum hypertension in women with pregnancy-related hypertension. Nested case control study within a cohort of 99 women with pregnancy-related hypertension who delivered at our institution between 2005 and 2009. Data were abstracted for clinical and labor information. Mode of delivery and length of labor were compared between women with previously diagnosed pregnancy-related hypertension readmitted within 4 weeks post partum (25 cases) and those not readmitted (74 controls). Categorical and continuous variables were compared using χ(2) and T-tests, respectively. Multivariable logistic regression controlled for confounders. Hypertension readmission was not associated with mode of delivery (cases: 10(40%) spontaneous vaginal delivery, 15(60%) cesarean delivery; controls: 38(51%) spontaneous vaginal delivery, 36(49%) cesarean delivery, P=0.33). Length of labor appeared longer in cases, with a trend toward significance (median: 15.5 [7,28] h vs 10.75 [5.8,15.9] h, P=0.12) and was significantly associated with readmission after controlling for delivery mode, induction and parity (adjusted odds ratio=1.06 [1 to 1.12], P=0.048). Readmitted patients were less likely to have initially been started on antihypertensive medications after controlling for age, race and chronic hypertension (adjusted odds ratio=0.23 [0.06 to 0.88], P=0.03). Postpartum readmission for hypertension in women with known pregnancy-related hypertension is not associated with mode of delivery, appears increased in those with longer length of labor and decreased in those initially started on antihypertensive medications. This provides targets for future research to continue to improve transitions of care and reduce preventable readmissions.

  11. Association of functional MMP-2 gene variant with intracranial aneurysms: case-control genetic association study and meta-analysis.

    Science.gov (United States)

    Alg, Varinder S; Ke, Xiayi; Grieve, Joan; Bonner, Stephen; Walsh, Daniel C; Bulters, Diederik; Kitchen, Neil; Houlden, Henry; Werring, David J

    2018-01-15

    Abnormalities in Matrix Metalloproteinase (MMP) genes, which are important in extracellular matrix (ECM) maintenance and therefore arterial wall integrity are a plausible underlying mechanism of intracranial aneurysm (IA) formation, growth and subsequent rupture. We investigated whether the rs243865 C > T SNP (single nucleotide polymorphism) within the MMP-2 gene (which influences gene transcription) is associated with IA compared to matched controls. We conducted a case-control genetic association study, adjusted for known IA risk factors (smoking and hypertension), in a UK Caucasian population of 1409 patients with intracranial aneurysms (IA), and 1290 matched controls, to determine the association of the rs243865 C > T functional MMP-2 gene SNP with IA (overall, and classified as ruptured and unruptured). We also undertook a meta-analysis of two previous studies examining this SNP. The rs243865 T allele was associated with IA presence in univariate (OR 1.18 [95% CI 1.04-1.33], p = .01) and in multi-variable analyses adjusted for smoking and hypertension status (OR 1.16 [95% CI 1.01-1.35], p = .042). Subgroup analysis demonstrated an association of the rs243865 SNP with ruptured IA (OR 1.18 [95% CI 1.03-1.34] p = .017), but, not unruptured IA (OR 1.17 [95% CI 0.97-1.42], p = .11). Our study demonstrated an association between the functional MMP-2 rs243865 variant and IAs. Our findings suggest a genetic role for altered extracellular matrix integrity in the pathogenesis of IA development and rupture.

  12. Work and family: associations with long-term sick-listing in Swedish women – a case-control study

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    Sandmark Hélène

    2007-10-01

    Full Text Available Abstract Background The number of Swedish women who are long-term sick-listed is high, and twice as high as for men. Also the periods of sickness absence have on average been longer for women than for men. The objective of this study was to investigate the associations between factors in work- and family life and long-term sick-listing in Swedish women. Methods This case-control study included 283 women on long-term sick-listing ≥90 days, and 250 female referents, randomly chosen, living in five counties in Sweden. Bivariate and multivariate logistic regression analyses with odds ratios were calculated to estimate the associations between long-term sick-listing and factors related to occupational work and family life. Results Long-term sick-listing in women is associated with self-reported lack of competence for work tasks (OR 2.42 1.23–11.21 log reg, workplace dissatisfaction (OR 1.89 1.14–6.62 log reg, physical workload above capacity (1.78 1.50–5.94, too high mental strain in work tasks (1.61 1.08–5.01 log reg, number of employers during work life (OR 1.39 1.35–4.03 log reg, earlier part-time work (OR 1.39 1.18–4.03 log reg, and lack of influence on working hours (OR 1.35 1.47–3.86 log reg. A younger age at first child, number of children, and main responsibility for own children was also found to be associated with long-term sick-listing. Almost all of the sick-listed women (93% wanted to return to working life, and 54% reported they could work immediately if adjustments at work or part-time work were possible. Conclusion Factors in work and in family life could be important to consider to prevent women from being long-term sick-listed and promote their opportunities to remain in working life. Measures ought to be taken to improve their mobility in work life and control over decisions and actions regarding theirs lives.

  13. Predictors of breast cancer among women in a northern state of Malaysia: a matched case-control study.

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    Matalqah, Laila; Radaideh, Khaldoon; Yusoff, Zuraidah Mohd; Awaisu, Ahmed

    2011-01-01

    Breast cancer has been increased in South East Asia countries, but there are limited data for breast cancer risk factors in these countries. To clarify the risk for breast cancer among the Malaysian women, a matched case-control study was conducted. Between October 2009 and April 2010, a survey was prospectively conducted among women admitted to clinics of Penang General Hospital for examination and/or treatment by using a questionnaire. Therefore, characteristics of patients diagnosed with breast cancer (n=150) were compared with control cases (n=150) admitted to hospital for non-neoplastic, non-hormone related diseases. Family history of a distant relative with breast cancer (OR=2.84), history of first-degree relatives with breast cancer (OR=2.95), history of benign breast disease (OR=2.43), menstrual irregularity (OR=4.24), and use of oral contraceptive pills (OCP) (OR=2.15) were found to be significant risk factors for breast cancer in our population. Furthermore, education more than 11 years (OR=0.40), breastfeeding (OR=0.50), being employed (OR=0.45) and practicing low fat diet (OR=0.53) were strongly protective against breast cancer development. The results emphasize the importance of conducting a series of awareness campaigns that highlights the protective role of longer breastfeeding period against breast cancer and the negative relationships between OCP use and high fat diet with this disease.

  14. Clinical and psychological features of normal-weight women with subthreshold anorexia nervosa: a pilot case-control observational study.

    Science.gov (United States)

    Tagliabue, Anna; Ferraris, Cinzia; Martinelli, Valentina; Pinelli, Giovanna; Repossi, Ilaria; Trentani, Claudia

    2012-01-01

    Weight preoccupations have been frequently reported in normal-weight subjects. Subthreshold anorexia nervosa (s-AN, all DSM IV TR criteria except amenorrhea or underweight) is a form of eating disorder not otherwise specified that has received scarce scientific attention. Under a case-control design we compared the general characteristics, body composition, and psychopathological features of normal-weight patients with s-AN with those of BMI- and sex-matched controls. Participants in this pilot study included 9 normal-weight women who met the DSM IV TR criteria for s-AN and 18 BMI-matched normal-weight controls. The general characteristics of the study participants were collected by questionnaire. Body composition was measured by bioelectrical impedance. Behavioral and psychological measures included the standardized symptom checklist (SCL-90-R) and the eating disorder inventory (EDI-2). There were no differences in age, education, employment status, marital status, and history of previous slimming treatment in the two study groups. In addition, anthropometric measures and body composition of s-AN patients and BMI-matched normal weight controls were not significantly different. In the s-AN subgroup, we found a significant relationship between waist circumference and the SCL-90-R obsessivity-compulsivity scale (n=9, r=-0.69, pstudy cohort. These pilot results suggest that psychopathological criteria (particularly related to the obsessivity-compulsivity dimension) may be more useful than anthropometric measures for screening of s-AN in normal-weight women.

  15. Evaluation of Renal Function in Pregnant Women with Malaria: A Case-Control Study in a Mesoendemic Area

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    Justice Afrifa

    2017-01-01

    Full Text Available Background. Malaria is known to have devastating effects on mortality in tropical and subtropical regions with the effect being magnified in people with weakened immunity such as those in pregnancy. We assessed the effect of malaria on renal function of pregnant women receiving antenatal care in a mesoendemic area of Ghana. Methodology. A case-control study that enrolled a total of 100 pregnant women (50 with confirmed gestational malaria as cases and 50 without malaria as controls. Sociodemographic characteristics, obstetric history (obtained with a questionnaire, urea, creatinine, sodium, and potassium were analyzed using a chemistry automated analyzer. Results. Plasma urea and creatinine were significantly increased (P=0.0003 and P<0.0001, resp. among cases compared to the controls. Also the levels of urea (P=0.033, creatinine (P=0.032, and parasitaemia (0.016 were significantly increased with increasing gestational age. Conclusion. Malaria has a significant impact on renal function (most importantly, urea and creatinine and is also significantly associated with increasing gestational age among our study participants.

  16. Breast Cancer and Modifiable Lifestyle Factors in Argentinean Women: Addressing Missing Data in a Case-Control Study

    Science.gov (United States)

    Coquet, Julia Becaria; Tumas, Natalia; Osella, Alberto Ruben; Tanzi, Matteo; Franco, Isabella; Diaz, Maria Del Pilar

    2016-01-01

    A number of studies have evidenced the effect of modifiable lifestyle factors such as diet, breastfeeding and nutritional status on breast cancer risk. However, none have addressed the missing data problem in nutritional epidemiologic research in South America. Missing data is a frequent problem in breast cancer studies and epidemiological settings in general. Estimates of effect obtained from these studies may be biased, if no appropriate method for handling missing data is applied. We performed Multiple Imputation for missing values on covariates in a breast cancer case-control study of Córdoba (Argentina) to optimize risk estimates. Data was obtained from a breast cancer case control study from 2008 to 2015 (318 cases, 526 controls). Complete case analysis and multiple imputation using chained equations were the methods applied to estimate the effects of a Traditional dietary pattern and other recognized factors associated with breast cancer. Physical activity and socioeconomic status were imputed. Logistic regression models were performed. When complete case analysis was performed only 31% of women were considered. Although a positive association of Traditional dietary pattern and breast cancer was observed from both approaches (complete case analysis OR=1.3, 95%CI=1.0-1.7; multiple imputation OR=1.4, 95%CI=1.2-1.7), effects of other covariates, like BMI and breastfeeding, were only identified when multiple imputation was considered. A Traditional dietary pattern, BMI and breastfeeding are associated with the occurrence of breast cancer in this Argentinean population when multiple imputation is appropriately performed. Multiple Imputation is suggested in Latin America’s epidemiologic studies to optimize effect estimates in the future. PMID:27892664

  17. Nested case-control study of night shift work and breast cancer risk among women in the Danish military.

    Science.gov (United States)

    Hansen, Johnni; Lassen, Christina F

    2012-08-01

    Growing but limited evidence suggests that night shift work is associated with breast cancer. The authors conducted a nationwide case-control study nested within a cohort of 18,551 female military employees born in 1929-1968 to investigate the risk for breast cancer after night shift work and to explore the role of leisure time sun exposure and diurnal preference. The authors documented 218 cases of breast cancer (1990-2003) and selected 899 age-matched controls from the cohort by incidence density sampling. Information on shift work, sun exposure habits, diurnal preference and other potential confounders was obtained from a structured questionnaire. ORs were estimated by multivariate conditional logistic regression. Overall, the authors observed an adjusted OR of 1.4 (95% CI 0.9 to 2.1) among women with ever compared with never night shifts. The RR for breast cancer tended to increase with increasing number of years of night shift work (p=0.03) and with cumulative number of shifts (p=0.02),with a neutral risk for fewer than three night shifts per week. The OR for the group with the highest tertile of cumulative exposure was 2.3 (95% CI 1.2 to 4.6). The most pronounced effect of night shift work on breast cancer risk was observed in women with morning chronotype preference and intense night shifts (OR=3.9, 95% CI 1.6 to 9.5). Night shift workers tended to sunbathe more frequently than day workers. The results indicate that frequent night shift work increases the risk for breast cancer and suggest a higher risk with longer duration of intense night shifts. Women with morning preference who worked on night shifts tended to have a higher risk than those with evening preference.

  18. Association of RET Genetic Polymorphisms and Haplotypes with Papillary Thyroid Carcinoma in the Portuguese Population: A Case-Control Study

    Science.gov (United States)

    Santos, Marina; Azevedo, Teresa; Martins, Teresa; Rodrigues, Fernando J.; Lemos, Manuel C.

    2014-01-01

    Thyroid cancer has a multifactorial aetiology resulting from the interaction of genetic and environmental factors. Several low penetrance susceptibility genes have been identified but their effects often vary between different populations. Somatic point mutations and translocations of the REarranged during Transfection (RET) proto-oncogene are frequently found in thyroid cancer. The aim of this case-control study was to determine the effect of four well known RET single nucleotide polymorphisms (SNPs) on the risk for differentiated thyroid carcinoma. A total of 545 Portuguese patients and 543 controls were genotyped by PCR and restriction enzyme analysis, for the following SNPs: G691S (exon 11, rs1799939 G/A), L769L (exon 13, rs1800861 T/G), S836S (exon 14, rs1800862 C/T), and S904S (exon 15, rs1800863 C/G). The minor allele of S836S was overrepresented in patients with papillary thyroid carcinoma (PTC) when compared to controls (OR 1.57; 95% CI 1.05–2.35; p = 0.026). The GGTC haplotype was also overrepresented in PTC (OR 2.51; 95% CI 1.07–5.91; p = 0.029). No associations were found in follicular thyroid carcinoma (FTC). Multivariate logistic regression analysis showed no differences regarding gender, age at diagnosis, lymph node or distant metastasis. However, a near significant overrepresentation of the minor alleles of G691S and S904S was found in patients with tumours greater than 10 mm of diameter at diagnosis. These data suggest that the RET S836S polymorphism in exon 14 and the GGTC haplotype are risk factors for PTC, but not FTC, and that the G691S/S904S polymorphisms might be associated with tumour behaviour. PMID:25330015

  19. Genetic Polymorphisms in Vitamin D Metabolism and Signaling Genes and Risk of Breast Cancer: A Nested Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Tess V Clendenen

    Full Text Available Genetic polymorphisms in vitamin D metabolism and signaling genes have been inconsistently associated with risk of breast cancer, though few studies have examined SNPs in vitamin D-related genes other than the vitamin D receptor (VDR gene and particularly have not examined the association with the retinoid X receptor alpha (RXRA gene which may be a key vitamin D pathway gene. We conducted a nested case-control study of 734 cases and 1435 individually matched controls from a population-based prospective cohort study, the Northern Sweden Mammary Screening Cohort. Tag and functional SNPs were genotyped for the VDR, cytochrome p450 24A1 (CYP24A1, and RXRA genes. We also genotyped specific SNPs in four other genes related to vitamin D metabolism and signaling (GC/VDBP, CYP2R1, DHCR7, and CYP27B1. SNPs in the CYP2R1, DHCR7, and VDBP gene regions that were associated with circulating 25(OHD concentration in GWAS were also associated with plasma 25(OHD in our study (p-trend <0.005. After taking into account the false discovery rate, these SNPs were not significantly associated with breast cancer risk, nor were any of the other SNPs or haplotypes in VDR, RXRA, and CYP24A1. We observed no statistically significant associations between polymorphisms or haplotypes in key vitamin D-related genes and risk of breast cancer. These results, combined with the observation in this cohort and most other prospective studies of no association of circulating 25(OHD with breast cancer risk, do not support an association between vitamin D and breast cancer risk.

  20. Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Hainan population: a case-control study

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    Ding YP

    2014-12-01

    Full Text Available Yipeng Ding,1,* Danlei Yang,2,* Xiaojie Xun,3 Zhifeng Wang,4 Pei Sun,1 Dongchuan Xu,1 Ping He,1 Huan Niu,1 Tianbo Jin3,5 1Department of Emergency, People’s Hospital of Hainan Province, Haikou, Hainan, People’s Republic of China; 2Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People’s Republic of China; 3School of Life Sciences, Northwest University, Xi'an, People’s Republic of China; 4Department of Respiration, People’s Hospital of Qionghai, Qionghai, Hainan, People’s Republic of China; 5National Engineering Research Center for Miniaturized Detection Systems, Xi'an, People’s Republic of China *The authors are joint first authors Purpose: Chronic obstructive pulmonary disease (COPD is predicted to become the third most common cause of death and the fifth most common cause of disability in the world by 2020. Recently, variants in the hypoxia-inducible factor 1α (HIF1A, cholinergic receptor, neuronal nicotinic, alpha polypeptide-5, and iron-responsive element-binding protein 2 gene (IREB2 genes were found to be associated with COPD. This study aims to identify whether the variations in these genes are related to COPD in the Hainan population of the People’s Republic of China. Patients and methods: We genotyped 12 single nucleotide polymorphisms in a case-control study with 200 COPD cases and 401 controls from Hainan, People’s Republic of China. Odds ratios and 95% confidence intervals were estimated using the chi-squared (Χ2 test, genetic model analysis, haplotype analysis, and stratification analysis. Results: In the genetic model analysis, we found that the genotype T/T of rs13180 of IREB2 decreased the COPD risk by 0.52-fold (P=0.025. But in the further stratification analysis, we failed to find the association between the selected single nucleotide polymorphisms with COPD risk in Han population. In addition, the haplotype

  1. Associations between antioxidant vitamins and the risk of invasive cervical cancer in Chinese women: A case-control study.

    Science.gov (United States)

    Guo, Liyuan; Zhu, Hong; Lin, Chengjun; Che, Jianhua; Tian, Xiujuan; Han, Shiyu; Zhao, Honghui; Zhu, Yumei; Mao, Dongwei

    2015-09-04

    Previous studies on the associations between dietary antioxidant vitamins and the risk of cervical cancer remain inconsistent, and little evidence is available for serum antioxidant vitamins, which provide more accurate measurements of these nutrients. We conducted a case-control study of 458 incident cases with invasive cervical cancer and 742 controls to assess the effects of diet or serum antioxidant vitamins. Higher serum antioxidant vitamins were associated with a lower risk of cervical cancer after adjusting for potential confounders. The odds ratios (ORs) for the highest (vs. lowest) quartile were 0.66 (95% confidence interval [CI] = 0.46-0.93; P = 0.024) for α-carotene, 0.63 (95% CI = 0.45-0.90; P = 0.006) for β-carotene, 0.53 (95% CI = 0.37-0.74; P vitamin E, and 0.48 (95% CI = 0.33-0.69; P vitamin C. Dietary intakes of vitamins E and C were inversely associated with the risk of cervical cancer. Risk of cervical cancer from serum antioxidant vitamins was more evident in passive smokers than non-passive smokers. These findings indicated that antioxidant vitamins (mainly α-carotene, β-carotene, and vitamins E and C) might be beneficial in reducing the risk of invasive cervical cancer in Chinese women, especially in passive smokers.

  2. Consumption of sweet foods and breast cancer risk: a case-control study of women on Long Island, New York.

    Science.gov (United States)

    Bradshaw, Patrick T; Sagiv, Sharon K; Kabat, Geoffrey C; Satia, Jessie A; Britton, Julie A; Teitelbaum, Susan L; Neugut, Alfred I; Gammon, Marilie D

    2009-10-01

    Several epidemiologic studies have reported a positive association between breast cancer risk and high intake of sweets, which may be due to an insulin-related mechanism. We investigated this association in a population-based case-control study of 1,434 cases and 1,440 controls from Long Island, NY. Shortly after diagnosis, subjects were interviewed in-person to assess potential breast cancer risk factors, and self-completed a modified Block food frequency questionnaire, which included 11 items pertaining to consumption of sweets (sweet beverages, added sugars, and various desserts) in the previous year. Using unconditional logistic regression models, we estimated the association between consumption of sweets and breast cancer. Consumption of a food grouping that included dessert foods, sweet beverages, and added sugars was positively associated with breast cancer risk [adjusted odds ratio (OR) comparing the highest to the lowest quartile: 1.27, 95% confidence interval (CI): 1.00-1.61]. The OR was slightly higher when only dessert foods were considered (OR: 1.55, 95% CI: 1.23-1.96). The association with desserts was stronger among pre-menopausal women (OR: 2.00, 95% CI: 1.32-3.04) than post-menopausal women (OR: 1.40, 95% CI: 1.07-1.83), although the interaction with menopause was not statistically significant. Our study indicates that frequent consumption of sweets, particularly desserts, may be associated with an increased risk of breast cancer. These results are consistent with other studies that implicate insulin-related factors in breast carcinogenesis.

  3. A case-control study of the association between urinary cadmium concentration and endometriosis in infertile Japanese women

    International Nuclear Information System (INIS)

    Itoh, Hiroaki; Iwasaki, Motoki; Nakajima, Yoshiaki; Endo, Yoko; Hanaoka, Tomoyuki; Sasaki, Hiroshi; Tanaka, Tadao; Yang, Bin; Tsugane, Shoichiro

    2008-01-01

    Cadmium may act like an estrogen and be a potential risk factor for estrogen-related diseases such as breast cancer and endometriosis. Here, we tested the hypothesis that higher cadmium exposure is associated with endometriosis among infertile Japanese women in a hospital-based case-control study. We recruited consecutive female patients aged 20-45 years who had complained of infertility and presented to a university hospital in Tokyo. The subjects were interviewed and provided a urine sample prior to a laparoscopic diagnosis of endometriosis between January 2000 and December 2001. The severity of endometriosis was then dichotomized into controls (stage 0 and I) and cases (stage II-IV). We finally measured urinary total cadmium concentration in 54 cases and 74 controls as a biomarker of long-term cumulative exposure. Odds ratios were adjusted for average menstrual cycle length, body-mass index and smoking status using unconditional logistic regression. Results showed no association between endometriosis and urinary cadmium concentration. Medians (interquartile ranges) of urinary cadmium concentration in cases and controls were 0.53 (0.40-0.73) and 0.54 (0.34-0.76) μg/g creatinine, respectively (P for difference = 0.88). Adjusted odds ratio (95% confidence interval) for the highest versus lowest tertile of urinary creatinine-adjusted cadmium concentration was 0.86 (0.30 to 2.49, P for trend = 0.79). Our results do not support the hypothesis that higher urinary cadmium concentration is associated with the risk of endometriosis

  4. A case-control study of the association between urinary cadmium concentration and endometriosis in infertile Japanese women

    Energy Technology Data Exchange (ETDEWEB)

    Itoh, Hiroaki [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan); Iwasaki, Motoki [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan)], E-mail: moiwasak@gan2.res.ncc.go.jp; Nakajima, Yoshiaki; Endo, Yoko [Research Center for Occupational Poisoning, Tokyo Rosai Hospital, Japan Labour Health and Welfare Organization, 4-13-21 Omoriminami, Ohta-ku, Tokyo 143-0013 (Japan); Hanaoka, Tomoyuki [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan); Sasaki, Hiroshi; Tanaka, Tadao; Yang, Bin [Department of Obstetrics and Gynecology, Jikei University School of Medicine 3-25-8, Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461 (Japan); Tsugane, Shoichiro [Epidemiology and Prevention Division, Research Center for Cancer Prevention and Screening, National Cancer Center, 5-1-1 Tsukiji, Chuo-ku, Tokyo 104-0045 (Japan)

    2008-09-01

    Cadmium may act like an estrogen and be a potential risk factor for estrogen-related diseases such as breast cancer and endometriosis. Here, we tested the hypothesis that higher cadmium exposure is associated with endometriosis among infertile Japanese women in a hospital-based case-control study. We recruited consecutive female patients aged 20-45 years who had complained of infertility and presented to a university hospital in Tokyo. The subjects were interviewed and provided a urine sample prior to a laparoscopic diagnosis of endometriosis between January 2000 and December 2001. The severity of endometriosis was then dichotomized into controls (stage 0 and I) and cases (stage II-IV). We finally measured urinary total cadmium concentration in 54 cases and 74 controls as a biomarker of long-term cumulative exposure. Odds ratios were adjusted for average menstrual cycle length, body-mass index and smoking status using unconditional logistic regression. Results showed no association between endometriosis and urinary cadmium concentration. Medians (interquartile ranges) of urinary cadmium concentration in cases and controls were 0.53 (0.40-0.73) and 0.54 (0.34-0.76) {mu}g/g creatinine, respectively (P for difference = 0.88). Adjusted odds ratio (95% confidence interval) for the highest versus lowest tertile of urinary creatinine-adjusted cadmium concentration was 0.86 (0.30 to 2.49, P for trend = 0.79). Our results do not support the hypothesis that higher urinary cadmium concentration is associated with the risk of endometriosis.

  5. Genetics University of Toronto Thrombophilia Study in Women (GUTTSI: genetic and other risk factors for venous thromboembolism in women

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    Evrovski Jovan

    2001-05-01

    Full Text Available Abstract Background Women may be at increased risk for venous thromboembolism (VTE as compared with men. We studied the effects of genetic and biochemical markers of thrombophilia in women, in conjunction with other established risk factors for VTE. Method The present retrospective case-control study was conducted in a thrombosis treatment programme at a large Toronto hospital. The cases were 129 women aged 16-79 years with objectively confirmed VTE. Age-matched control individuals were women who were free of venous thrombosis. Neither cases nor control individuals had known cardiovascular disease. Participants were interviewed regarding personal risk factors for VTE, including smoking, history of malignancy, pregnancy, and oestrogen or oral contraceptive use. Blood specimens were analyzed for common single nucleotide polymorphisms of prothrombin, factor V and methylenetetrahydrofolate reductase (MTHFR; C677T, A1298C and T1317C, and the A66G polymorphism for methionine synthase reductase (MTRR.Fasting plasma homocysteine was also analyzed. Results Women with VTE were significantly more likely than female control individuals to carry the prothrombin polymorphism and the factor V polymorphism, or to have fasting hyperhomocysteinaemia. Homozygosity for the C677T MTHFR gene was not a significant risk factor for VTE, or were the A1298C or T1317C MTHFR homozygous variants. Also, the A66G MTRR homozygous state did not confer an increased risk for VTE. Conclusion Prothrombin and factor V polymorphisms increased the risk for VTE in women, independent from other established risk factors. Although hyperhomocysteinaemia also heightens this risk, common polymorphisms in two genes that are responsible for homocysteine remethylation do not. These findings are consistent with previous studies that included both men and women.

  6. Update on the effect of exogenous hormone use on glioma risk in women: a meta-analysis of case-control and cohort studies.

    Science.gov (United States)

    Lan, Yu-Long; Wang, Xun; Lou, Jia-Cheng; Ma, Bin-Bin; Xing, Jin-Shan; Zou, Shuang; Zhang, Bo

    2018-04-01

    Various studies have confirmed the important roles of endogenous hormones in the development of gliomas, while the roles of exogenous hormones remain controversial. Based on case-control studies and cohort studies, a meta-analysis was exerted to explore the effect of two exogenous hormones use (HRT: hormone replacement therapy; OC: oral contraceptives) on glioma risk. 16 eligible studies, including 11 case-control studies and 5 cohort studies, containing 8055027 women, were included in our study. All included studies have reported the relative risks (RRs) or odds ratios (ORs), and 95% confidence intervals (CIs). We use the fixed-effects model to calculate the estimated overall risk. In case-control studies, the risk of glioma was lower in women who had ever been treated with an exogenous hormone than in the control group (HRT: OR 0.91, 95% CI 0.84-0.99; OC: OR 0.99, 95% CI 0.91-1.07). In research of cohort studies, similar results have been obtained (HRT: RR 0.95, 95% CI 0.83-1.08; OC: RR 0.75, 95% CI 0.66-0.84). Our study further confirmed that the use of exogenous hormones has an important impact on the risk of glioma in women. However, more prospective studies are needed to further confirm this conclusion.

  7. Death of a Son is Associated With Risk of Suicide Among Parous Women in Taiwan: A Nested Case-Control Study

    OpenAIRE

    Chen, Chih-Cheng; Kuo, Chien-Chun; Wu, Trong-Neng; Yang, Chun-Yuh

    2012-01-01

    Background The impact of the sex of a deceased child on maternal suicide has not been studied. We examined whether the death of a child, especially a son, increased the risk of suicide among parous Taiwanese women. Methods This matched case-control study was done within a cohort of 1 292 462 Taiwanese women who experienced a first and singleton childbirth between 1 January 1978 and 31 December 1987 and were followed up until 31 December 2008. From the cohort, 2701 suicide cases were identifie...

  8. Childhood Abuse Experiences and the COMT and MTHFR Genetic Variants Associated With Male Sexual Orientation in the Han Chinese Populations: A Case-Control Study.

    Science.gov (United States)

    Qin, Jia-Bi; Zhao, Guang-Lu; Wang, Feng; Cai, Yu-Mao; Lan, Li-Na; Yang, Lin; Feng, Tie-Jian

    2018-01-01

    Although it is widely acknowledged that genetic and environmental factors are involved in the development of male homosexuality, the causes are not fully understood. To explore the association and interaction of childhood abuse experiences and genetic variants of the catechol-O-methyltransferase (COMT) and methylenetetrahydrofolate reductase (MTHFR) genes with the development of male homosexuality. A case-control study of 537 exclusively homosexual men and 583 exclusively heterosexual men was conducted, with data collected from March 2013 to August 2015. Data were analyzed using χ 2 tests and logistic regression models. Sociodemographic characteristics, childhood abuse experiences, and polymorphisms of COMT at rs4680, rs4818, and rs6267 and MTHFR at rs1801133. More frequent occurrence of physical (adjusted odds ratio [aOR] = 1.78), emotional (aOR = 2.07), and sexual (aOR = 2.53) abuse during childhood was significantly associated with the development of male homosexuality. The polymorphisms of MTHFR at rs1801133 and COMT at rs4818 also were significantly associated with the development of male homosexuality in the homozygote comparisons (T/T vs C/C at rs1801133, aOR = 1.68; G/G vs C/C at rs4818, aOR = 1.75). In addition, significant interaction effects between childhood abuse experiences and the COMT and MTHFR genetic variants on the development of male homosexuality were found. This is the first time that an association of childhood abuse, COMT and MTHFR genetic variants, and their interactions with development of male homosexuality was exhaustively explored, which could help provide new insight into the etiology of male homosexuality. Because homosexual men are a relatively obscure population, it was impossible to select the study participants by random sampling, which could lead to selection bias. In addition, because this was a case-control study, recall bias was inevitable, and we could not verify causality. Childhood abuse and the COMT and MTHFR genetic

  9. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

    OpenAIRE

    Johnson, N. (Nichola); Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael; Schoemaker, Minouk; Folkerd, E.J. (Elizabeth J.); Haynes, B.P. (Ben P.); Hopper, John; Southey, Melissa; Dite, G.S. (Gillian S.); Apicella, C. (Carmel); Schmidt, Marjanka; Broeks, Annegien; Veer, Laura

    2014-01-01

    textabstractINTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breas...

  10. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

    OpenAIRE

    Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael; Schoemaker, Minouk; Folkerd, E.J. (Elizabeth J.); Haynes, B.P. (Ben P.); Hopper, John; Southey, Melissa; Dite, Gillian; Apicella, Carmel; Schmidt, Marjanka; Broeks, Annegien; Veer, Laura

    2014-01-01

    textabstractIntroduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. Methods: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Brea...

  11. Environmental Exposures, Genetic Polymorphisms and p53 Mutational Spectra in a Case-Control Study of Breast Cancer

    National Research Council Canada - National Science Library

    Shields, eter

    1999-01-01

    .... Other genetic analyses are completed for MEH3, MEH4, CYP2D6, GSTMl, GST-T and CYP1A1. We have been validating a p53 mutational spectra detection technology using the Affymetrix gene chip array...

  12. Early menarche and teenager pregnancy as risk factors for morbid obesity among reproductive-age women: A case-control study.

    Science.gov (United States)

    Neves, Amanda Gonçalves; Kasawara, Karina Tamy; Godoy-Miranda, Ana Carolina; Oshika, Flávio Hideki; Chaim, Elinton Adami; Surita, Fernanda Garanhani

    2017-10-01

    The aim of this study was to evaluate potential risk factors, including non-communicable diseases, for morbid obesity in women between 20 and 49 years of age. We performed a case-control study with 110 morbidly obese women and 110 women with adequate weight who were matched by age and with a 1:1 case to control ratio. All women were between 20 to 49 years old and non-menopausal. Possible risk factors were evaluated through a self-report questionnaire assessing socio-demographic, obstetric and gynecological characteristics, presence of non-communicable diseases and habits. Multiple logistic regression was used to estimate the odds ratio with respective confidence intervals. Menarche under 12 years old, teenage pregnancy and lower educational level were shown to be risk factors for morbid obesity among women of reproductive age. Incidences of non-communicable diseases (diabetes, hypertension, dyslipidemia, liver disease, lung disease, thyroid dysfunction, and joint pain) were increased in women with morbid obesity. Early menarche, teenage pregnancy and low education level are risk factors for the occurrence of morbid obesity in women of reproductive age. Some non-communicable diseases were already more prevalent in women with morbid obesity even before 50 years of age.

  13. Sociodemographic differences among HIV-positive and HIV-negative recently pregnant women in Mexico City: A case-control study.

    Science.gov (United States)

    Aguilar-Zapata, Daniel; Piñeirúa-Menéndez, Alicia; Volkow-Fernández, Patricia; Rodríguez-Zulueta, Patricia; Ramos-Alamillo, Ubaldo; Cabrera-López, Teresita; Martin-Onraet, Alexandra

    2017-07-01

    National HIV preventive programs in Mexico focus on high-risk groups that do not consider women, apart from prenatal screening. Nonetheless, the epidemic in women is growing, and there is a need to better understand sociodemographic factors in women living with HIV (WLH). We performed a case-control study in Mexico City, including HIV+ and HIV- women with a recent pregnancy to compare their sociodemographic characteristics and describe the circumstances of diagnosis in HIV+ women, as well as prenatal screening frequency in both groups. Fifty cases and 102 controls were interviewed. HIV+ women were more frequently the only economic support of the family (20% vs 0%, P history of sexually transmitted diseases, substance abuse, history of violence, and civil status. Only 6% of controls were tested for HIV during prenatal follow-up. WLH in this study faced important social vulnerability. Targeting women living in these social contexts might increase early diagnosis and could tailor HIV prevention strategies. Prenatal coverage needs to be improved and should represent a national priority.

  14. Birth characteristics of women with Marfan syndrome, obstetric and neonatal outcomes of their pregnancies-A nationwide cohort and case-control study.

    Science.gov (United States)

    Kernell, Kristina; Sydsjö, Gunilla; Bladh, Marie; Josefsson, Ann

    2017-08-01

    The aim was to investigate birth characteristics, obstetric and neonatal outcomes of the first childbirth in women with Marfan syndrome by use of Swedish national registers since pregnancy-related outcomes in women with Marfan syndrome have only been sparsely investigated. In this national population-based cohort study and matched case-control study of Swedish women born 1973-1993, women with Marfan syndrome (n=273) were compared to women without the condition (n=1 017 265). The study population was followed until 2013. A total of 364 553 mother-firstborn-offspring pairs were analyzed. Sixty-one women with Marfan syndrome became mothers. Women with Marfan syndrome were also compared to 543 healthy controls. Women with Marfan syndrome were more often born preterm (pMarfan syndrome had no increased risk of giving birth by cesarean section (p=0.079). No increased neonatal risks in their children were found. Women with Marfan syndrome were less likely to give birth than those without (pMarfan syndrome were more likely to be born preterm, SGA and by cesarean section. These increased risks of preterm birth and SGA babies were not found in connection with their own first childbirth. Pregnancies with known fetal Marfan syndrome have to be carefully monitored. The results are important for obstetricians giving preconception counseling and treating women with Marfan syndrome. Further studies are needed to evaluate risks during pregnancy and long-term effects of pregnancy on the cardiovascular status of women with Marfan syndrome. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Risk Prediction for Epithelial Ovarian Cancer in 11 United States–Based Case-Control Studies: Incorporation of Epidemiologic Risk Factors and 17 Confirmed Genetic Loci

    Science.gov (United States)

    Clyde, Merlise A.; Palmieri Weber, Rachel; Iversen, Edwin S.; Poole, Elizabeth M.; Doherty, Jennifer A.; Goodman, Marc T.; Ness, Roberta B.; Risch, Harvey A.; Rossing, Mary Anne; Terry, Kathryn L.; Wentzensen, Nicolas; Whittemore, Alice S.; Anton-Culver, Hoda; Bandera, Elisa V.; Berchuck, Andrew; Carney, Michael E.; Cramer, Daniel W.; Cunningham, Julie M.; Cushing-Haugen, Kara L.; Edwards, Robert P.; Fridley, Brooke L.; Goode, Ellen L.; Lurie, Galina; McGuire, Valerie; Modugno, Francesmary; Moysich, Kirsten B.; Olson, Sara H.; Pearce, Celeste Leigh; Pike, Malcolm C.; Rothstein, Joseph H.; Sellers, Thomas A.; Sieh, Weiva; Stram, Daniel; Thompson, Pamela J.; Vierkant, Robert A.; Wicklund, Kristine G.; Wu, Anna H.; Ziogas, Argyrios; Tworoger, Shelley S.; Schildkraut, Joellen M.

    2016-01-01

    Previously developed models for predicting absolute risk of invasive epithelial ovarian cancer have included a limited number of risk factors and have had low discriminatory power (area under the receiver operating characteristic curve (AUC) < 0.60). Because of this, we developed and internally validated a relative risk prediction model that incorporates 17 established epidemiologic risk factors and 17 genome-wide significant single nucleotide polymorphisms (SNPs) using data from 11 case-control studies in the United States (5,793 cases; 9,512 controls) from the Ovarian Cancer Association Consortium (data accrued from 1992 to 2010). We developed a hierarchical logistic regression model for predicting case-control status that included imputation of missing data. We randomly divided the data into an 80% training sample and used the remaining 20% for model evaluation. The AUC for the full model was 0.664. A reduced model without SNPs performed similarly (AUC = 0.649). Both models performed better than a baseline model that included age and study site only (AUC = 0.563). The best predictive power was obtained in the full model among women younger than 50 years of age (AUC = 0.714); however, the addition of SNPs increased the AUC the most for women older than 50 years of age (AUC = 0.638 vs. 0.616). Adapting this improved model to estimate absolute risk and evaluating it in prospective data sets is warranted. PMID:27698005

  16. Evaluation of Feasibility for a Case-Control Study of Adrenal Androgen Production in Postmenopausal Women With Breast Cancer

    National Research Council Canada - National Science Library

    Dorgan, Joanne F

    2006-01-01

    ... [I]. Dehydroepiandrosterone sulfate (DHEAS) is secreted only by the adrenals, and elevated serum DHEAS levels in postmenopausal women who develop breast cancer suggest increased adrenal androgen production...

  17. Genetic variations of MMP9 gene and intracerebral hemorrhage susceptibility: a case-control study in Chinese Han population.

    Science.gov (United States)

    Yang, Jie; Wu, Bo; Lin, Sen; Zhou, Junshan; Li, Yingbin; Dong, Wei; Arima, Hisatomi; Zhang, Chanfei; Liu, Yukai; Liu, Ming

    2014-06-15

    To investigate the association between genetic variations of matrix metalloproteinase 9 (MMP9) gene and intracerebral hemorrhage (ICH) susceptibility in Chinese Han population. The clinical data and peripheral blood samples from the patients with ICH and hypertension, and controlled subjects with hypertension only, were collected. MassARRAY Analyzer was used to genotype the tagger single nucleotide polymorphism (SNP) of MMP9 gene. Haploview4.2 and Unphased3.1.7 were employed to construct haplotypes and to analyze the association between genetic variations (alleles, genotypes and haplotypes) of MMP9 gene and ICH susceptibility. 181 patients with ICH and hypertension, and 197 patients with hypertension only, were recruited between Sep 2009 and Oct 2010. Patients in the ICH group were younger (61.80 ± 13.27 vs. 72.44 ± 12.71 years, ppopulation. Our logistical regression analysis showed that there were no significant associations between genetic variations of the MPP9 gene and ICH susceptibility (all p>0.05). The genetic variations of MMP9 gene were not significantly associated with ICH susceptibility in the Chinese Han population. Copyright © 2014 Elsevier B.V. All rights reserved.

  18. The cardiovascular risk of young women with polycystic ovary syndrome: an observational, analytical, prospective case-control study.

    Science.gov (United States)

    Orio, Francesco; Palomba, Stefano; Spinelli, Letizia; Cascella, Teresa; Tauchmanovà, Libuse; Zullo, Fulvio; Lombardi, Gaetano; Colao, Annamaria

    2004-08-01

    To evaluate the cardiovascular risk of polycystic ovary syndrome (PCOS), we investigated lipid profile, metabolic pattern, and echocardiography in 30 young women with PCOS and 30 healthy age- and body mass index (BMI)-matched women. PCOS women had higher fasting glucose and insulin levels, homeostasis model assessment score of insulin sensitivity, total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, and TC/high density lipoprotein cholesterol (HDL-C) ratio and lower HDL-C levels than controls. Additionally, PCOS women had higher left atrium size (32.0 +/- 4.9 vs. 27.4 +/- 2.1 mm; P index (80.5 +/- 18.1 vs. 56.1 +/- 5.4 g/m(2); P 18 and 30 kg/m(2))], the differences between PCOS women and controls were maintained in overweight and obese women. In normal weight PCOS women, a significant increase in left ventricular mass index and a decrease in diastolic filling were observed, notwithstanding no change in TC, LDL-C, HDL-C, TC/HDL-C ratio, and TG compared with controls. In conclusion, our data show the detrimental effect of PCOS on the cardiovascular system even in young women asymptomatic for cardiac disease.

  19. Developmental origins of polycystic ovary syndrome (PCOS), a case control study comparing birth weight in women with PCOS and control group.

    Science.gov (United States)

    Sadrzadeh, Sheda; Painter, Rebecca C; Lambalk, Cornelis B

    2016-10-01

    Evidence from various epidemiological studies and experimental animal studies has linked adverse intrauterine circumstances with health problems in adult life. This field of investigation is known as Developmental Origins of Health and Disease (DOHaD). Studies investigating the relation between developing polycystic ovary syndrome (PCOS) in adulthood and birth weight have yielded inconsistent results: PCOS is described more often in women with low birth weight and high birth weight, while other studies have failed to establish any relation. In this retrospective case-control study, we evaluated whether women diagnosed with PCOS had lower birth weight compared to women with a regular menstrual cycle (controls). Binary logistic regression models were used to analyze the data and correct for known confounders. About 65 women with PCOS and 96 controls were recruited for this purpose. The average birth weight of PCOS women (3357 g) did not differ from the average birth weight of controls (3409 g). Mean age at menarche differed significantly between groups, 13.7  years and 12.8  years (p = 0.006), respectively, for PCOS women and controls. In conclusion, we could not confirm the effect of adverse intrauterine conditions, reflected in birth weight, on developing PCOS.

  20. Moving into a new era of periodontal genetic studies: relevance of large case-control samples using severe phenotypes for genome-wide association studies.

    Science.gov (United States)

    Vaithilingam, R D; Safii, S H; Baharuddin, N A; Ng, C C; Cheong, S C; Bartold, P M; Schaefer, A S; Loos, B G

    2014-12-01

    Studies to elucidate the role of genetics as a risk factor for periodontal disease have gone through various phases. In the majority of cases, the initial 'hypothesis-dependent' candidate-gene polymorphism studies did not report valid genetic risk loci. Following a large-scale replication study, these initially positive results are believed to be caused by type 1 errors. However, susceptibility genes, such as CDKN2BAS (Cyclin Dependend KiNase 2B AntiSense RNA; alias ANRIL [ANtisense Rna In the Ink locus]), glycosyltransferase 6 domain containing 1 (GLT6D1) and cyclooxygenase 2 (COX2), have been reported as conclusive risk loci of periodontitis. The search for genetic risk factors accelerated with the advent of 'hypothesis-free' genome-wide association studies (GWAS). However, despite many different GWAS being performed for almost all human diseases, only three GWAS on periodontitis have been published - one reported genome-wide association of GLT6D1 with aggressive periodontitis (a severe phenotype of periodontitis), whereas the remaining two, which were performed on patients with chronic periodontitis, were not able to find significant associations. This review discusses the problems faced and the lessons learned from the search for genetic risk variants of periodontitis. Current and future strategies for identifying genetic variance in periodontitis, and the importance of planning a well-designed genetic study with large and sufficiently powered case-control samples of severe phenotypes, are also discussed. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  1. Evaluation of the vaginal flora in pregnant women receiving opioid maintenance therapy: a matched case-control study.

    Science.gov (United States)

    Farr, Alex; Kiss, Herbert; Hagmann, Michael; Holzer, Iris; Kueronya, Verena; Husslein, Peter W; Petricevic, Ljubomir

    2016-08-05

    Vaginal infections are a risk factor for preterm delivery. In this study, we sought to evaluate the vaginal flora of pregnant women receiving opioid maintenance therapy (OMT) in comparison to non-dependent, non-maintained controls. A total of 3763 women with singleton pregnancies who underwent routine screening for asymptomatic vaginal infections between 10 + 0 and 16 + 0 gestational weeks were examined. Vaginal smears were Gram-stained, and microscopically evaluated for bacterial vaginosis, candidiasis, and trichomoniasis. In a retrospective manner, data of 132 women receiving OMT (cases) were matched for age, ethnicity, parity, education, previous preterm delivery, and smoking status to the data of 3631 controls. The vaginal flora at antenatal screening served as the primary outcome measure. Secondary outcome measures were gestational age and birth weight. In the OMT group, 62/132 (47 %) pregnant women received methadone, 39/132 (29.5 %) buprenorphine, and 31/132 (23.5 %) slow-release oral morphine. Normal or intermediate flora was found in 72/132 OMT women (54.5 %) and 2865/3631 controls [78.9 %; OR 0.49 (95 % CI, 0.33-0.71); p Candidiasis occurred more frequently in OMT women than in controls [OR 2.11 (95 % CI, 1.26-3.27); p candidiasis) and trichomoniasis. Compared to infants of the control group, those of women with OMT had a lower mean birth weight [MD -165.3 g (95 % CI, -283.6 to -46.9); p = 0.006]. Pregnant women with OMT are at risk for asymptomatic vaginal infections. As recurrent candidiasis is associated with preterm delivery, the vulnerability of this patient population should lead to consequent antenatal infection screening at early gestation.

  2. Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control study.

    Science.gov (United States)

    Papadimitriou, George N; Dikeos, Dimitris G; Souery, Daniel; Del-Favero, Jurgen; Massat, Isabelle; Avramopoulos, Dimitrios; Blairy, Sylvie; Cichon, Sven; Ivezic, Sladjana; Kaneva, Radka; Karadima, Georgia; Lilli, Roberta; Milanova, Vihra; Nöthen, Markus; Oruc, Lilijana; Rietschel, Marcella; Serretti, Alessandro; Van Broeckhoven, Christine; Stefanis, Costas N; Mendlewicz, Julien

    2003-12-01

    The co-segregation in one pedigree of bipolar affective disorder with Darier's disease whose gene is on chromosome 12q23-q24.1, and findings from linkage and association studies with the neighbouring gene of phospholipase A2 (PLA2) indicate that PLA2 may be considered as a candidate gene for affective disorders. All relevant genetic association studies, however, were conducted on bipolar patients. In the present study, the possible association between the PLA2 gene and unipolar affective disorder was examined on 321 unipolar patients and 604 controls (all personally interviewed), recruited from six countries (Belgium, Bulgaria, Croatia, Germany, Greece, and Italy) participating in the European Collaborative Project on Affective Disorders. After controlling for population group and gender, one of the eight alleles of the investigated marker (allele 7) was found to be more frequent among unipolar patients with more than three major depressive episodes than among controls (P<0.01); genotypic association was also observed, under the dominant model of genetic transmission (P<0.02). In addition, presence of allele 7 was correlated with a higher frequency of depressive episodes (P<0.02). These findings suggest that structural variations at the PLA2 gene or the chromosomal region around it may confer susceptibility for unipolar affective disorder.

  3. Low levels of 17-β-oestradiol, oestrone and testosterone correlate with severe evaporative dysfunctional tear syndrome in postmenopausal women: a case-control study.

    Science.gov (United States)

    Gagliano, Caterina; Caruso, Salvatore; Napolitano, Giuseppe; Malaguarnera, Giulia; Cicinelli, Maria Vittoria; Amato, Roberta; Reibaldi, Michele; Incarbone, Giuseppe; Bucolo, Claudio; Drago, Filippo; Avitabile, Teresio

    2014-03-01

    To evaluate the role of 17-β-oestradiol, oestrone and total testosterone (TT) deficiency in the pathogenesis of severe evaporative dry eye syndrome (DES), investigating the relationship between tear osmolarity, tear film break-up time (TF-BUT), Schirmer test and serum sex hormones in postmenopausal women. 44 postmenopausal women were recruited for a case-control study: 22 women with severe evaporative DES (Group A) and 22 without DES (Group B). The tests performed included laboratory blood analysis: fasting plasma profile (17-β-oestradiol, oestrone and TT), glucose level and lipid profile. Detailed eye examinations, including corneal and conjunctival staining, tear osmolarity measurement, tear volume and TF-BUT, were performed. The Ocular Surface Disease Index Questionnaire was also administered. Values of Schirmer test and TF-BUT in Group A were significantly lower in comparison with Group B (p<0.001). Serum levels of 17-β-oestradiol, oestrone and TT were significantly lower in Group A compared with Group B (p<0.05). In women with severe evaporative DES, the levels of 17-β-oestradiol, oestrone and TT were inversely correlated with the tear film osmolarity (r=-0.7, -0.88, -0.81, respectively). In postmenopausal women with severe evaporative DES, sex hormone levels are lower than control and that tear osmolarity is negatively correlated with sex hormone levels.

  4. Relationship satisfaction in women: a longitudinal case-control study about the role of breast cancer, personal assertiveness, and partners' relationship-focused coping.

    Science.gov (United States)

    Hinnen, Chris; Hagedoorn, Mariët; Ranchor, Adelita V; Sanderman, Robbert

    2008-11-01

    The aim of this study was to investigate whether a breast cancer diagnosis, personal assertiveness (i.e. frequency of assertive behaviour and tension associated with this behaviour), and partners' relationship-focused coping (i.e. active engagement and protective buffering) were sources of variation in patients' relationship satisfaction, cross-sectionally and over time. This longitudinal case-control study assessed the two dimensions of personal assertiveness and relationship satisfaction in both women with cancer (N=72) and comparison controls (N=62). In addition, patients completed a measure assessing their partners' active engagement and protective buffering. Cases (i.e. women with breast cancer) were not found to report more relationship problems than controls. Women with breast cancer who tended not to express their concerns and feelings and who experienced much tension when they did, reported relatively low marital satisfaction. Moreover, partners' protective buffering was associated with less relationship satisfaction in especially more assertive (i.e. high frequency of assertive behaviour and low tension) women with cancer, while active engagement was associated with more relationship satisfaction, regardless of the women's personal assertiveness. The results of the present study indicate that a breast cancer diagnosis by itself may not be a risk factor for relationship problems. However, in the context of an illness such as cancer, personal assertiveness, and a partner's relationship-focused coping strategies do seem to play a role in maintaining a satisfactory relationship with one's partner.

  5. Atopy and new-onset asthma in young Danish farmers and CD14, TLR2, and TLR4 genetic polymorphisms: a nested case-control study

    DEFF Research Database (Denmark)

    Smit, L A M; Bongers, S I M; Ruven, H J T

    2007-01-01

    BACKGROUND: Evidence exists that exposure to high levels of microbial agents such as endotoxin in the farm environment decreases the risk of atopic sensitization. Genetic variation in innate immunity genes may modulate the response to microbial agents and thus influence susceptibility to asthma...... and atopy. OBJECTIVE: To study potential associations between single nucleotide polymorphisms (SNPs) in CD14, Toll-like receptor 2 (TLR2), and TLR4 genes, and atopy and new-onset asthma in young farmers. METHODS: A nested case-control study was conducted within a cohort of 1901 young Danish farmers. We....../-651 promoter polymorphisms are associated with atopy prevalence among young adults exposed to farm environments. Udgivelsesdato: 2007-Nov...

  6. Genetic variants in DNA double-strand break repair genes and risk of salivary gland carcinoma: a case-control study.

    Directory of Open Access Journals (Sweden)

    Li Xu

    Full Text Available DNA double strand break (DSB repair is the primary defense mechanism against ionizing radiation-induced DNA damage. Ionizing radiation is the only established risk factor for salivary gland carcinoma (SGC. We hypothesized that genetic variants in DSB repair genes contribute to individual variation in susceptibility to SGC. To test this hypothesis, we conducted a case-control study in which we analyzed 415 single nucleotide polymorphisms (SNPs in 45 DSB repair genes in 352 SGC cases and 598 controls. Multivariate logistic regression analysis was performed to calculate odds ratios (ORs and 95% confidence intervals (CIs. Rs3748522 in RAD52 and rs13180356 in XRCC4 were significantly associated with SGC after Bonferroni adjustment; ORs (95% CIs for the variant alleles of these SNPs were 1.71 (1.40-2.09, P = 1.70 × 10(-7 and 0.58 (0.45-0.74, P = 2.00 × 10(-5 respectively. The genetic effects were modulated by histological subtype. The association of RAD52-rs3748522 with SGC was strongest for mucoepidermoid carcinoma (OR = 2.21, 95% CI: 1.55-3.15, P = 1.25 × 10(-5, n = 74, and the association of XRCC4-rs13180356 with SGC was strongest for adenoid cystic carcinoma (OR = 0.60, 95% CI: 0.42-0.87, P = 6.91 × 10(-3, n = 123. Gene-level association analysis revealed one gene, PRKDC, with a marginally significant association with SGC risk in non-Hispanic whites. To our knowledge, this study is the first to comprehensively evaluate the genetic effect of DSB repair genes on SGC risk. Our results indicate that genetic variants in the DSB repair pathways contribute to inter-individual differences in susceptibility to SGC and show that the impact of genetic variants differs by histological subtype. Independent studies are warranted to confirm these findings.

  7. Social support networks and depression of women suffering from early-stage breast cancer: a case control study.

    Science.gov (United States)

    Gagliardi, Cristina; Vespa, Anna; Papa, Roberta; Mariotti, Carlo; Cascinu, Stefano; Rossini, Simonetta

    2009-01-01

    The aim of this study was to investigate the areas of depression, anxiety, and social support using the structural model of the social network. By comparing the networks of two samples of breast cancer sufferers and healthy control participants, it was possible to identify differences in their relationships, in the shape of the networks themselves, and in the levels of depression and anxiety. Women with breast cancer described smaller and denser networks, including mainly kins whereas the healthy women included more friends, coworkers, and leisure companions. The levels of anxiety and depression were higher in women with breast cancer. Social network and social support measure correlated differently with depression and anxiety in the two groups.

  8. Endothelial dysfunction and history of recurrent depression in postmenopausal women with Type 2 diabetes: a case-control study.

    Science.gov (United States)

    Wagner, Julie; Tennen, Howard; Mansoor, George; Abbott, Gina

    2009-01-01

    This study of postmenopausal women with Type 2 diabetes mellitus (T2DM) investigated (1) history of depression as a predictor of endothelium-dependent flow-mediated dilation (FMD); (2) the relative associations of single and recurrent depressive disorders with FMD; and (3) cortisol as a potential mechanism. Participants were nonsmoking, naturally postmenopausal women with T2DM with no known vascular disease. All were free of current mood disorder. On average, the 44 participants were 63 years of age, White, diabetic for 6 years, and were in adequate glycemic control. Thirty-eight percent were never depressed, 19% had experienced one disorder, and 43% had experienced recurrent disorders. History of depression was assessed with Structured Clinical Interview for Diagnostic and Statistical Manual-IV. Current depressive symptoms were measured with Center for Epidemiological Studies Depression (CESD) scale. FMD was assessed by standard procedures and calculated as percent change in brachial artery diameter from baseline. Women with history of recurrent depression showed vasoconstriction (mean=-1%), which was significantly different from women with history of single depression (mean=+6) and never depressed women (mean=+5) (Pdiabetes, and glycemic control, history of recurrent depressive disorders predicted greater likelihood of vasoconstriction (P<.05, odds ratio=4.23) but history of single depressive disorder did not. Controlling for current depressive symptoms did not account for effects of past recurrent depressive disorders. Cortisol was not related to FMD. In postmenopausal women with T2DM, recurrent depressive disorders, even in full remission, are associated with endothelial dysfunction. Potential mechanisms of the relationship between depression and endothelial dysfunction other than cortisol warrant investigation.

  9. Effect of consanguinity on birth defects in Saudi women; results from a nested case-control study

    DEFF Research Database (Denmark)

    Majeed-Saidan, Muhammad Ali; Ammari, Amer N; AlHashem, Amal M

    2015-01-01

    BACKGROUND: The role of consanguinity in the etiology of structural birth defects outside of chromosomal and inherited disorders has always been debated. We studied the independent role of consanguinity on birth defects in Saudi women with a high prevalence of consanguineous marriages. METHODS: T...

  10. A case-control study of hormonal exposures as etiologic factors for ALS in women : Euro-MOTOR

    NARCIS (Netherlands)

    Rooney, James P K; Visser, Anne E; D'Ovidio, Fabrizio; Vermeulen, Roel; Beghi, Ettore; Chio, Adriano; Veldink, Jan H.; Logroscino, Giancarlo; van den Berg, Leonard H.; Hardiman, Orla

    2017-01-01

    OBJECTIVE: To investigate the role of hormonal risk factors for amyotrophic lateral sclerosis (ALS) among women from 3 European countries. METHODS: ALS cases and matched controls were recruited over 4 years in Ireland, Italy, and the Netherlands. Hormonal exposures, including reproductive history,

  11. A more atherogenic serum lipoprotein profile is present in women with polycystic ovary syndrome : A case-control study

    NARCIS (Netherlands)

    Valkenburg, Olivier; Steegers-Theunissen, Regine P. M.; Smedts, Huberdina P. M.; Dallinga-Thie, Geesje M.; Fauser, Bart C. J. M.; Westerveld, Egbertine H.; Laven, Joop S. E.

    Context: Polycystic ovary syndrome (PCOS) is associated with a higher frequency of cardiovascular risk factors. Apolipoprotein (apo) A-I and apoB are potent markers for cardiovascular risk. Data on apo levels in women with PCOS are scarce and contradictory. Objective: Our objective was to identify

  12. Genetic susceptibility loci, environmental exposures, and Parkinson's disease: a case-control study of gene-environment interactions.

    Science.gov (United States)

    Chung, Sun Ju; Armasu, Sebastian M; Anderson, Kari J; Biernacka, Joanna M; Lesnick, Timothy G; Rider, David N; Cunningham, Julie M; Ahlskog, J Eric; Frigerio, Roberta; Maraganore, Demetrius M

    2013-06-01

    Prior studies causally linked mutations in SNCA, MAPT, and LRRK2 genes with familial Parkinsonism. Genome-wide association studies have demonstrated association of single nucleotide polymorphisms (SNPs) in those three genes with sporadic Parkinson's disease (PD) susceptibility worldwide. Here we investigated the interactions between SNPs in those three susceptibility genes and environmental exposures (pesticides application, tobacco smoking, coffee drinking, and alcohol drinking) also associated with PD susceptibility. Pairwise interactions between environmental exposures and 18 variants (16 SNPs and two variable number tandem repeats, or "VNTRs") in SNCA, MAPT and LRRK2, were investigated using data from 1098 PD cases from the upper Midwest, USA and 1098 matched controls. Environmental exposures were assessed using a validated telephone interview script. Five pairwise interactions had uncorrected P-values coffee drinking × MAPT H1/H2 haplotype or MAPT rs16940806, and alcohol drinking × MAPT rs2435211. None of these interactions remained significant after Bonferroni correction. Secondary analyses in strata defined by type of control (sibling or unrelated), sex, or age at onset of the case also did not identify significant interactions after Bonferroni correction. This study documented limited pairwise interactions between established genetic and environmental risk factors for PD; however, the associations were not significant after correction for multiple testing. Copyright © 2013 Elsevier Ltd. All rights reserved.

  13. Reproductive factors, nutritional status and serum 25(OH)D levels in women with breast cancer: A case control study.

    Science.gov (United States)

    Sofi, Nighat Y; Jain, Monika; Kapil, Umesh; Seenu, Vuthaluru; R, Lakshmy; Yadav, Chander P; Pandey, Ravindra M; Sareen, Neha

    2018-01-01

    The study was conducted with an objective to investigate the association between reproductive factors, nutritional status and serum 25(OH)D levels among women diagnosed with breast cancer (BC). A total of 200 women with BC attending a tertiary healthcare institute of Delhi, India matched with 200 healthy women for age (±2years) and socio economic status were included in the study. Data was collected on socio-demographic profile, reproductive factors, physical activity and dietary intake (24h dietary recall and food frequency questionnaire) using interviewer administered structured questionnaires and standard tools. Non fasting blood samples (5ml) were collected for the biochemical estimation of serum 25(OH)D and calcium levels by chemiluminescent immunoassay and colorimetric assay technique. Data was analyzed by univariable conditional logistic regression and significant variables with (p<0.05), were analyzed in final model by conditional multivariable logistic regression analysis. The mean age of patients at diagnosis of BC was 45±10years. Results of multivariable conditional logistic regression analysis revealed significantly higher odds of BC for reproductive factors like age at marriage (more than 23 years), number of abortions, history or current use of oral contraceptive pills (OCP), with [OR (95% CI)] of [2.4 (1.2-4.9)], [4.0 (1.6-12.6)], [2.4 (1.2-5.0)]. Women with physically light activities and occasional consumption of eggs were found to have higher odds of BC [4.6 (1.6-13.0)] and [3.2 (1.6-6.3)]. Women with serum 25(OH)D levels less than 20ng/ml and calcium levels less than 10.5mg/dl had higher odds of having BC [2.4 (1.2-5.1)] and [3.7 (1.5-8.8)]. A protective effect of urban areas as place of residence and energy intake greater than 50% of Recommended Dietary Allowance (RDA) per day against BC was observed (p<0.05). The findings of the present study revealed a significant association of reproductive and dietary factors in addition to sedentary

  14. Indoor pollution as an occupational risk factor for tuberculosis among women: a population-based, gender oriented, case-control study in Southern Mexico.

    Science.gov (United States)

    García-Sancho, Ma Cecilia; García-García, Lourdes; Báez-Saldaña, Renata; Ponce-De-León, Alfredo; Sifuentes-Osornio, José; Bobadilla-Del-valle, Miriam; Ferreyra-Reyes, Leticia; Cano-Arellano, Bulmaro; Canizales-Quintero, Sergio; Palacios-Merino, Luz del Carmen; Juárez-Sandino, Luis; Ferreira-Guerrero, Elizabeth; Cruz-Hervert, Luis Pablo; Small, Peter M; Pérez-Padilla, José Rogelio

    2009-01-01

    Indoor air pollution produced by biomass cooking fuels in developing countries has been associated with acute and chronic lower respiratory diseases, but has not been identified as an occupational exposure among women. To examine the relationship between the use of biomass cooking fuels (mainly wood) and tuberculosis (TB) among women living in rural areas in Southern Mexico. We conducted a population based case-control study in the health jurisdiction of Orizaba, Mexico. Cases were all incident female pulmonary TB patients, with Mycobacterium tuberculosis in sputum, living in communities with fewer than 15,000 inhabitants, diagnosed between March 1995 and April 2003. Woodsmoke exposure was assessed by applying a standardized questionnaire (ATS-DLD-78 questionnaire). Controls were randomly selected from sex-matched neighbors. Appropriate IRB approval was obtained. 42 TB cases and 84 community controls were recruited. Multivariate assessment showed that more than 20 years of exposure to smoke from biomass fuels was three times more frequent among cases than among controls [Odds ratio (OR): 3.3, 95% confidence interval (CI):1.06-10.30, p = 0.03], after controlling for age, body mass, household crowding, years of formal education and tobacco use. We found a strong association between the use of biomass cooking fuels and tuberculosis among women in a community-based, case-control study. Results of this study are intended to provide evidence to policy makers, community leaders and the general public on the importance of implementing gender oriented interventions that decrease the use of biomass fuels in poor communities in developing countries.

  15. Factors associated with late ANC initiation among pregnant women in select public health centers of Addis Ababa, Ethiopia: unmatched case-control study design.

    Science.gov (United States)

    Gebrekidan, Kahasse; Worku, Alemayehu

    2017-01-01

    Although Ethiopia has shown remarkable achievements in reducing maternal mortality in the last 10 years, the prevalence of late antenatal care (ANC) initiation is still high in the country. The primary purpose of this study was to identify the factors related to late ANC initiation among pregnant women in selected public health centers in Addis Ababa, Ethiopia. A total of 402 pregnant women (cases=134, controls=268) were recruited using multistage sampling. The design selected for the study was unmatched case-control. EpiData version 3.02 and SPSS version 20.0 were used for data entry and statistical analysis, respectively. Binary logistic regression model was used to model the odds of late ANC initiation. The odds of attending ANC late were significantly higher for mothers with a monthly household income of $8.50 to start the ANC service (AOR=3.04; 95% CI: 1.98, 4.67). Low educational level, low income of the household, unplanned pregnancy, stay for ANC service were the main predictors of late ANC initiation. Therefore, any intervention which would need to improve early ANC initiation should focus on economic empowerment of women, and tailored health education for migrant women should be strengthened.

  16. Behavioral and psychosocial risk factors associated with first and recurrent cystitis in Indian women: A case-control study

    Directory of Open Access Journals (Sweden)

    Bharti Mishra

    2016-01-01

    Full Text Available Background: The risk factors for urinary tract infections (UTIs from developed countries are not applicable to women from developing world. Objective: To analyze the behavioral practices and psychosocial aspects pertinent to women in our region and assess their association with acute first time or recurrent UTI. Materials and Methods: Sexually active premenopausal women with their first (145 and recurrent (77 cystitis with Escherichia coli as cases and women with no prior history of UTI as healthy controls (257 were enrolled at a tertiary care hospital in India, between June 2011 and February 2013. Questionnaire-based data was collected from each participant through a structured face-to-face interview. Results: Using univariate and multivariate regression models, independent risk factors for the first episode of cystitis when compared with healthy controls were (presented in odds ratios [ORs] with its 95% confidence interval [CI]: Anal sex (OR = 3.68, 95% CI = 1.59-8.52, time interval between last sexual intercourse and current episode of UTI was 250 ml of tea consumption per day (OR = 4.73, 95% CI = 2.67-8.38, presence of vaginal infection (OR = 3.23, 95% CI = 1.85-5.62 and wiping back to front (OR = 2.52, 95% CI = 1.45-4.38. Along with the latter three, history of UTI in a first-degree female relative (OR = 10.88, 95% CI = 2.41-49.07, constipation (OR = 4.85, 95% CI = 1.97-11.92 and stress incontinence (OR = 2.45, 95% CI = 1.18-5.06 were additional independent risk factors for recurrent cystitis in comparison to healthy controls. Conclusion: Most of the risk factors for initial infection are potentially modifiable but sufficient to also pose risk for recurrence. Many of the findings reflect the cultural and ethnic practices in our country.

  17. Odds ratios for hip- and lower forearm fracture using peripheral bone densitometry; a case-control study of postmenopausal women

    DEFF Research Database (Denmark)

    Saleh, M M A; Jørgensen, H L; Lauritzen, J B

    2002-01-01

    concern when using peripheral densitometry is the poor correlation with the central measurements. The main aim of this study is, therefore, to assess the possibility of expressing ultrasound measurements at the heel and bone mineral density (BMD) measured at the distal forearm as fracture odds ratios...... rather than an absolute measure of bone mass. METHODS: A total of 76 women with lower forearm fracture, 47 women with hip fracture and 231 age-matched women (controls) were included. All had broadband ultrasound attenuation (BUA) and speed of sound (SOS) measured at the heel using the DTU-one ultrasound.......8; 5.2) for heel-BUA (T-score cutoff: -2.3), 4.1 (2.3; 7.4) for heel-SOS (-2.1) and 2.2 (1.3; 3.7) for lower forearm BMD (-2.7). The odds ratio for hip fracture was 3.4 (1.5-7.7) for heel-BUA (-2.7), 3.6 (1.6; 8.1) for heel-SOS (-2.6) and 3.2 (1.4; 7.4) for lower forearm BMD (-2.9). CONCLUSION...

  18. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

    Science.gov (United States)

    Healy, Daniel G; Falchi, Mario; O'Sullivan, Sean S; Bonifati, Vincenzo; Durr, Alexandra; Bressman, Susan; Brice, Alexis; Aasly, Jan; Zabetian, Cyrus P; Goldwurm, Stefano; Ferreira, Joaquim J; Tolosa, Eduardo; Kay, Denise M; Klein, Christine; Williams, David R; Marras, Connie; Lang, Anthony E; Wszolek, Zbigniew K; Berciano, Jose; Schapira, Anthony HV; Lynch, Timothy; Bhatia, Kailash P; Gasser, Thomas; Lees, Andrew J; Wood, Nicholas W

    2008-01-01

    Trust; Internationaal Parkinson Fonds; Volkswagen Foundation; National Institutes of Health: National Institute of Neurological Disorders and Stroke and National Institute of Aging; Udall Parkinson's Disease Centre of Excellence; Pacific Alzheimer Research Foundation Centre; Italian Telethon Foundation; Fondazione Grigioni per il Morbo di Parkinson; Michael J Fox Foundation for Parkinson's Research; Safra Global Genetics Consortium; US Department of Veterans Affairs; French Agence Nationale de la Recherche. PMID:18539534

  19. Genetic variation in TLR or NFkappaB pathways and the risk of breast cancer: a case-control study

    International Nuclear Information System (INIS)

    Resler, Alexa J; Malone, Kathleen E; Johnson, Lisa G; Malkki, Mari; Petersdorf, Effie W; McKnight, Barbara; Madeleine, Margaret M

    2013-01-01

    Toll-like receptors (TLRs) and the transcription factor nuclear factor-κB (NFκB) are important in inflammation and cancer. We examined the association between breast cancer risk and 233 tagging single nucleotide polymorphisms within 31 candidate genes involved in TLR or NFκB pathways. This population-based study in the Seattle area included 845 invasive breast cancer cases, diagnosed between 1997 and 1999, and 807 controls aged 65–79. Variant alleles in four genes were associated with breast cancer risk based on gene-level tests: MAP3K1, MMP9, TANK, and TLR9. These results were similar when the risk of breast cancer was examined within ductal and luminal subtypes. Subsequent exploratory pathway analyses using the GRASS algorithm found no associations for genes in TLR or NFκB pathways. Using publicly available CGEMS GWAS data to validate significant findings (N = 1,145 cases, N = 1,142 controls), rs889312 near MAP3K1 was confirmed to be associated with breast cancer risk (P = 0.04, OR 1.15, 95% CI 1.01–1.30). Further, two SNPs in TANK that were significant in our data, rs17705608 (P = 0.05) and rs7309 (P = 0.04), had similar risk estimates in the CGEMS data (rs17705608 OR 0.83, 95% CI 0.72–0.96; CGEMS OR 0.90, 95% CI 0.80–1.01 and rs7309 OR 0.83, 95% CI 0.73–0.95; CGEMS OR 0.91, 95% CI 0.81–1.02). Our findings suggest plausible associations between breast cancer risk and genes in TLR or NFκB pathways. Given the few suggestive associations in our data and the compelling biologic rationale for an association between genetic variation in these pathways and breast cancer risk, further studies are warranted that examine these effects

  20. Environmental risk factors for women with polycystic ovary syndrome in china: a population-based case-control study.

    Science.gov (United States)

    Zhang, J; Liu, X F; Liu, Y; Xu, L Z; Zhou, L L; Tang, L L; Zhuang, J; Li, T T; Guo, W Q; Hu, R; Qiu, D S; Han, D W

    2014-01-01

    Polycystic ovary syndrome (PCOS) is a common reproductive endocrinology disease with heterogeneous phenotype. Environmental factors are thought to be involved in the development of PCOS. The present study aimed to explore the potential environmental risk factors of PCOS. A cross-sectional study and stratified population-based case-control study were carried out. Pre-designed questionnaires were prepared, including questions about medication history, contact history of endocrine disruptors (EDs), environment and habituation. Fasting blood was collected for measurement of sex hormone, glucose and insulin. Matched logistic regression analysis was used to find the potential independent risk factor of PCOS. One thousand eight hundred fifty-four participants (aged 12-44 years) were analyzed in the cross-sectional investigation. One hundred sixty-nine PCOS patients and 338 matched controls were compared. PCOS patients were more frequent than controls in eating plastic-packaged food (p=0.001), contacting pesticide (p=0.021), eating fruit with pericarp (p=0.001), living beside a garbage heap (p=0.001), working at an acid plant (p=0.028), taking Chinese patent drugs (p=0.001), smoking (p=0.028) and drinking alcohol (p=0.001). However, PCOS patients were less likely to use kitchen ventilators (p=0.002), eat canned food (p=0.049), contact decorated materials, use skin care products (p=0.01) and cosmetics (p=0.027). No difference was found in taking antiepileptic drugs (p=0.93). Eating plastic-packaged food (p=0.001, OR=44.449), eating fruit with pericarp (p=0.03, OR=5.7) and drinking alcohol (p=0.001, OR=29.632) were found to be the independent risk factors for PCOS. The existence of an association between EDs and PCOS was proved. Plastic-packaged food, fruit with pericarp and drinking alcohol should be avoided as possible as we can. However, the causal relationships among these factors and PCOS should be proved by further research.

  1. Using imputed genotype data in the joint score tests for genetic association and gene-environment interactions in case-control studies.

    Science.gov (United States)

    Song, Minsun; Wheeler, William; Caporaso, Neil E; Landi, Maria Teresa; Chatterjee, Nilanjan

    2018-03-01

    Genome-wide association studies (GWAS) are now routinely imputed for untyped single nucleotide polymorphisms (SNPs) based on various powerful statistical algorithms for imputation trained on reference datasets. The use of predicted allele counts for imputed SNPs as the dosage variable is known to produce valid score test for genetic association. In this paper, we investigate how to best handle imputed SNPs in various modern complex tests for genetic associations incorporating gene-environment interactions. We focus on case-control association studies where inference for an underlying logistic regression model can be performed using alternative methods that rely on varying degree on an assumption of gene-environment independence in the underlying population. As increasingly large-scale GWAS are being performed through consortia effort where it is preferable to share only summary-level information across studies, we also describe simple mechanisms for implementing score tests based on standard meta-analysis of "one-step" maximum-likelihood estimates across studies. Applications of the methods in simulation studies and a dataset from GWAS of lung cancer illustrate ability of the proposed methods to maintain type-I error rates for the underlying testing procedures. For analysis of imputed SNPs, similar to typed SNPs, the retrospective methods can lead to considerable efficiency gain for modeling of gene-environment interactions under the assumption of gene-environment independence. Methods are made available for public use through CGEN R software package. © 2017 WILEY PERIODICALS, INC.

  2. Can Intrapartum Cardiotocography Predict Uterine Rupture among Women with Prior Caesarean Delivery?: A Population Based Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Malene M Andersen

    Full Text Available To compare cardiotocographic abnormalities recorded during labour in women with prior caesarean delivery (CD and complete uterine rupture with those recorded in controls with prior CD without uterine rupture.Women with complete uterine rupture during labour between 1997 and 2008 were identified in the Danish Medical Birth Registry (n = 181. Cases were validated by review of medical records and 53 cases with prior CD, trial of labour, available cardiotocogram (CTG and complete uterine rupture were included and compared with 43 controls with prior CD, trial of labour and available CTG. The CTG tracings were assessed by 19 independent experts divided into groups of three different experts for each tracing. The assessors were blinded to group, outcome and clinical data. They analyzed occurrence of defined abnormalities and classified the traces as normal, suspicious, pathological or pre-terminal according to international guidelines (FIGO.A pathological CTG during the first stage of labour was present in 77% of cases and in 53% of the controls (OR 2.58 [CI: 0.96-6.94] P = 0.066. Fetal tachycardia was more frequent in cases with uterine rupture (OR 2.50 [CI: 1.0-6.26] P = 0.053. Significantly more cases showed more than 10 severe variable decelerations compared with controls (OR 22 [CI: 1.54-314.2] P = 0.022. Uterine tachysystole was not correlated with the presence of uterine rupture.A pathological cardiotocogram should lead to particular attention on threatening uterine rupture but cannot be considered a strong predictor as it is common in all women with trial of labour after caesarean delivery.

  3. Psychosocial influences on prisoner suicide: a case-control study of near-lethal self-harm in women prisoners.

    Science.gov (United States)

    Marzano, Lisa; Hawton, Keith; Rivlin, Adrienne; Fazel, Seena

    2011-03-01

    We examined the psychosocial influences on female prisoner suicide by carrying out a study of near-lethal self-harm. We interviewed 60 women prisoners who had recently engaged in near-lethal self-harm (cases) and 60 others who had never carried out near-lethal acts in prison (controls) from all closed female prison establishments in England and Wales, using mixed quantitative and qualitative methods. We gathered information on socio-demographic and criminological variables, life events and childhood trauma, exposure to suicidal behaviour, contributory and precipitating factors for near-lethal self-harm, social support and psychological characteristics. While socio-demographic factors were only modestly associated with near-lethal self-harm, being on remand, in single cell accommodation, and reporting negative experiences of imprisonment were strong correlates. Recent life events and past trauma, including different forms of childhood abuse, were also significantly associated with near-lethal self-harm, as were a family history of suicide and high scores on measures of depression, aggression, impulsivity and hostility, and low levels of self-esteem and social support. Our findings underline the importance of both individual and prison-related factors for suicide in custody, and hence the need for a comprehensive approach to suicide prevention in women's prisons. Given the multiple needs of female prisoners at-risk of self-harm and suicide, complex psychosocial interventions are likely to be required, including interventions for abused and bereaved women, and initiatives to improve staff-prisoner relationships and reduce bullying. The findings of this research may provide insights into factors leading to suicidal behaviour in other forensic and institutional settings, such as detention centres and psychiatric hospitals, and may assist in developing suicide prevention policies for prisoners and other at-risk populations. Copyright © 2011 Elsevier Ltd. All rights

  4. Copper and selenium levels in women with second-trimester induced abortion in Mazandaran, 2009: A case control study

    Directory of Open Access Journals (Sweden)

    Zoleikha Atarod

    2015-01-01

    Full Text Available Abortion is the termination of a pregnancy by the removal or expulsion of a fetus or embryo from the uterus, resulting in or caused by its death. Missed abortion is the most common dangerous condition in pregnancy. An abortion can occur due to maternal complications, chronic disease, endocrine disorders, abortificient drugs, radiation, heavy metals and toxins. The study population consisted of 43 aborted patients and 43 normal pregnant females, referred to Imam Khomeini hospital. 10 mL blood was taken and centrifuged to isolate the patients’ serum. Then, the samples were analyzed to determine the copper and selenium levels, using atomic absorption spectrometry. All data were statistically analyzed by T-test and Mann-Whitney methods. As a result, we found a significant decrease in serum copper level in cases compared with controls. Also the results showed an insignificant decrease in serum selenium levels in the patients compared to the healthy women. According to the results, deficiency of the essential heavy metals may be a probable reason for missed abortion occurrence. These deficiencies can be related to malnutrition, decreased consumption of essential metals and supplementary compounds in pregnancy, lack of regular laboratory monitoring. Thus, consuming supplements in Iranian pregnant women can be helpful in completing a successful pregnancy.

  5. Reflex syncope, anxiety level, and family history of cardiovascular disease in young women: case-control study.

    Science.gov (United States)

    Zyśko, D; Szewczuk-Bogusławska, M; Kaczmarek, M; Agrawal, A K; Rudnicki, J; Gajek, J; Melander, O; Sutton, R; Fedorowski, A

    2015-02-01

    Anxiety is an emotion, which stimulates sympathetic nervous outflow potentially facilitating vasovagal reflex syncope (VVS) but reports on anxiety levels in patients with VVS are sparse. We studied anxiety levels in young women (21-40 years) referred for unexplained transient loss of consciousness (TLOC), and age-matched female controls with or without past history of TLOC (≈probable VVS). Referred patients underwent head-up tilt (HUT) according to current ESC Guidelines. State and Trait Anxiety Inventory questionnaire evaluated anxiety levels plus a questionnaire explored risk factors for cardiovascular disease (CVD). Sixty-five of 91 women were diagnosed with VVS on HUT. Among 549 controls, 223 (40.6%) reported at least one episode of TLOC. State-anxiety level in patients with VVS undergoing HUT (42.4 ± 9.3) was higher compared with both controls with (38.3 ± 10.2; P < 0.01) and without past TLOC history (35.9 ± 9.8; P < 0.001). Trait anxiety in patients with VVS (42.7 ± 8.4), and controls with TLOC history (42.4 ± 8.4) was higher compared with controls without TLOC history (39.7 ± 8.5; P < 0.01). In the logistic regression using controls without TLOC as reference, both VVS diagnosis and past history of TLOC were associated with family history of CVD [odds ratio (OR) 2.4, 95% confidence interval (CI), 1.3-4.4; P = 0.007, and 2.3, 1.4-3.6; P = 0.001, respectively], and this association was independent of anxiety level. Trait anxiety and family history of CVD are increased in both young women with VVS and controls with history of TLOC. However, the height of anxiety level does not explain CVD heredity and other mechanisms may link syncope with CVD. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2014. For permissions please email: journals.permissions@oup.com.

  6. Women's social networks and use of facility delivery services for uncomplicated births in North West Ethiopia: a community-based case-control study.

    Science.gov (United States)

    Asrese, Kerebih; Adamek, Margaret E

    2017-12-28

    High maternal mortality has remained an unmet public health challenge in the developing world. Maternal mortality in Ethiopia is among the highest in the world. Since most maternal deaths occur during labor, delivery, and the immediate postpartum period, facility delivery with skilled birth attendants is recommended to reduce maternal mortality. Nonetheless, the majority of women in Ethiopia give birth at home. Individual attributes and availability and accessibility of services deter service utilization. The role of social networks that may facilitate or constrain service use is not well studied. Community-based case-control study was conducted between February and March 2014 in Jabi Tehinan District, North West Ethiopia. Retrospective data were collected from 134 women who had uncomplicated births at health facilities and 140 women who had uncomplicated births at home within a year preceding the survey. Interviews were held with eight women who had uncomplicated births at health facilities and 11 who had uncomplicated births at home. The quantitative data were entered and analyzed using SPSS for Windows versions 16.0 and hierarchical logistic regression model was used for analysis. The qualitative data were transcribed verbatim and data were used to substantiate the quantitative data. The results indicated that social network variables were significantly associated with the use of health facilities for delivery. Taking social networks into account improved the explanation of facility use for delivery services over women's individual attributes. Women embedded within homogeneous network members (Adjusted OR 2.53; 95% CI: 1.26-5.06) and embedded within high SBA endorsement networks (Adjusted OR 7.97; 95% CI: 4.07-12.16) were more likely to deliver at health facilities than their counterparts. Women living in urban areas (Adjusted OR 3.32; 95% CI: 1.37-8.05) and had better knowledge of obstetric complications (Adjusted OR 3.01; 95% CI: 1.46-6.18) were more likely to

  7. Risk factors of breast cancer among women in eastern India: a tertiary hospital based case control study.

    Science.gov (United States)

    Das, Soumen; Sen, Santanu; Mukherjee, Anindya; Chakraborty, Debadatta; Mondal, Pankaj Kumar

    2012-01-01

    Breast cancer is one of the most common cancers of women in India with high fatality rate. Over a 1 year study period 105 consecutive biopsy or fine needle aspiration cytology confirmed breast cancer patients were interviewed by direct questionnaire method regarding risk factors attending Surgery and Radiotherapy OPD of Medical College Kolkata, West Bengal while taking other 105 patients attending Surgery Department for some other disease as controls. The data were compiled in MS Excel 2007 and analyzed by Epi info 3.5.1 software. Among the cases, rural residence, illiteracy and low socio-economic status was significantly higher than controls. Late onset of menarche, late onset of menopause, ever OCP usage, breast feeding for 1-2 years and age of 1st childbirth between 20-30 years were found to be significant protective factors. People should be made aware regarding the modifiable risk factors to prevent breast cancer.

  8. Genetic association of HCRTR2, ADH4 and CLOCK genes with cluster headache: a Chinese population-based case-control study.

    Science.gov (United States)

    Fan, Zhiliang; Hou, Lei; Wan, Dongjun; Ao, Ran; Zhao, Dengfa; Yu, Shengyuan

    2018-01-09

    Cluster headache (CH), a rare primary headache disorder, is currently thought to be a genetic susceptibility which play a role in CH susceptibility. A large numbers of genetic association studies have confirmed that the HCRTR2 (Hypocretin Receptor 2) SNP rs2653349, and the ADH4 (Alcohol Dehydrogenase 4) SNP rs1126671 and rs1800759 polymorphisms are linked to CH. In addition, the CLOCK (Circadian Locomotor Output Cycles Kaput) gene is becoming a research hotspot for CH due to encoding a transcription factor that serves as a basic driving force for circadian rhythm in humans. The purpose of this study was to evaluate the association between CH and the HCRTR2, ADH4 and CLOCK genes in a Chinese CH case-control sample. We genotyped polymorphisms of nine single nucleotide polymorphisms (SNPs) in the HCRTR2, ADH4 and CLOCK genes to perform an association study on a Chinese Han CH case-control sample (112 patients and 192 controls),using Sequenom MALDI-TOF mass spectrometry iPLEX platform. The frequencies and distributions of genotypes and haplotypes were statistically compared between the case and control groups to identify associations with CH. The effects of SNPs on CH were further investigated by multiple logistic regression. The frequency of the HCRTR2 SNP rs3800539 GA genotype was significantly higher in cases than in controls (48.2% vs.37.0%). The GA genotypes was associated with a higher CH risk (OR = 1.483, 95% CI: 0.564-3.387, p = 0.038), however, after Bonferroni correction, the association lost statistical significance. Haplotype analysis of the HCRTR2 SNPs showed that among eight haplotypes, only H1-GTGGGG was linked to a reduced CH risk (44.7% vs. 53.1%, OR = 0.689, 95% CI =0.491~0.966, p = 0.030). No significant association of ADH4, CLOCK SNPs with CH was statistically detected in the present study. Association between HCRTR2, ADH4,CLOCK gene polymorphisms and CH was not significant in the present study, however, haplotype analysis indicated

  9. Barriers, motivators and facilitators related to prenatal care utilization among inner-city women in Winnipeg, Canada: a case-control study.

    Science.gov (United States)

    Heaman, Maureen I; Moffatt, Michael; Elliott, Lawrence; Sword, Wendy; Helewa, Michael E; Morris, Heather; Gregory, Patricia; Tjaden, Lynda; Cook, Catherine

    2014-07-15

    The reasons why women do not obtain prenatal care even when it is available and accessible are complex. Despite Canada's universally funded health care system, use of prenatal care varies widely across neighborhoods in Winnipeg, Manitoba, with the highest rates of inadequate prenatal care found in eight inner-city neighborhoods. The purpose of this study was to identify barriers, motivators and facilitators related to use of prenatal care among women living in these inner-city neighborhoods. We conducted a case-control study with 202 cases (inadequate prenatal care) and 406 controls (adequate prenatal care), frequency matched 1:2 by neighborhood. Women were recruited during their postpartum hospital stay, and were interviewed using a structured questionnaire. Stratified analyses of barriers and motivators associated with inadequate prenatal care were conducted, and the Mantel-Haenszel common odds ratio (OR) was reported when the results were homogeneous across neighborhoods. Chi square analysis was used to test for differences in proportions of cases and controls reporting facilitators that would have helped them get more prenatal care. Of the 39 barriers assessed, 35 significantly increased the odds of inadequate prenatal care for inner-city women. Psychosocial issues that increased the likelihood of inadequate prenatal care included being under stress, having family problems, feeling depressed, "not thinking straight", and being worried that the baby would be apprehended by the child welfare agency. Structural barriers included not knowing where to get prenatal care, having a long wait to get an appointment, and having problems with child care or transportation. Attitudinal barriers included not planning or knowing about the pregnancy, thinking of having an abortion, and believing they did not need prenatal care. Of the 10 motivators assessed, four had a protective effect, such as the desire to learn how to protect one's health. Receiving incentives and getting

  10. A case-control study to assess the impact of mammographic density on breast cancer risk in women aged 40-49 at intermediate familial risk.

    Science.gov (United States)

    Assi, Valentina; Massat, Nathalie J; Thomas, Susan; MacKay, James; Warwick, Jane; Kataoka, Masako; Warsi, Iqbal; Brentnall, Adam; Warren, Ruth; Duffy, Stephen W

    2015-05-15

    Mammographic density is a strong risk factor for breast cancer, but its potential application in risk management is not clear, partly due to uncertainties about its interaction with other breast cancer risk factors. We aimed to quantify the impact of mammographic density on breast cancer risk in women aged 40-49 at intermediate familial risk of breast cancer (average lifetime risk of 23%), in particular in premenopausal women, and to investigate its relationship with other breast cancer risk factors in this population. We present the results from a case-control study nested with the FH01 cohort study of 6,710 women mostly aged 40-49 at intermediate familial risk of breast cancer. One hundred and three cases of breast cancer were age-matched to one or two controls. Density was measured by semiautomated interactive thresholding. Absolute density, but not percent density, was a significant risk factor for breast cancer in this population after adjusting for area of nondense tissue (OR per 10 cm(2) = 1.07, 95% CI 1.00-1.15, p = 0.04). The effect was stronger in premenopausal women, who made up the majority of the study population. Absolute density remained a significant predictor of breast cancer risk after adjusting for age at menarche, age at first live birth, parity, past or present hormone replacement therapy, and the Tyrer-Cuzick 10-year relative risk estimate of breast cancer. Absolute density can improve breast cancer risk stratification and delineation of high-risk groups alongside the Tyrer-Cuzick 10-year relative risk estimate. © 2014 UICC.

  11. Risk of breast cancer by type of menopausal hormone therapy: a case-control study among post-menopausal women in France.

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    Emilie Cordina-Duverger

    Full Text Available BACKGROUND: There is extensive epidemiological evidence that menopausal hormone therapy (MHT increases breast cancer risk, particularly combinations of estrogen and progestagen (EP. We investigated the effects of the specific formulations and types of therapies used by French women. Progestagen constituents, regimen (continuous or sequential treatment by the progestagen, and time interval between onset of menopause and start of MHT were examined. METHODS: We conducted a population-based case-control study in France in 1555 menopausal women (739 cases and 816 controls. Detailed information on MHT use was obtained during in-person interviews. Odds ratios and 95% confidence interval adjusted for breast cancer risk factors were calculated. RESULTS: We found that breast cancer risk differed by type of progestagen among current users of EP therapies. No increased risk was apparent among EP therapy users treated with natural micronized progesterone. Among users of EP therapy containing a synthetic progestin, the odds ratio was 1.57 (0.99-2.49 for progesterone-derived and 3.35 (1.07-10.4 for testosterone-derived progestagen. Women with continuous regimen were at greater risk than women treated sequentially, but regimen and type of progestagen could not be investigated independently, as almost all EP combinations containing a testosterone-derivative were administered continuously and vice-versa. Tibolone was also associated with an increased risk of breast cancer. Early users of MHT after onset of menopause were at greater risk than users who delayed treatment. CONCLUSION: This study confirms differential effects on breast cancer risk of progestagens and regimens specifically used in France. Formulation of EP therapies containing natural progesterone, frequently prescribed in France, was not associated with increased risk of breast cancer but may poorly protect against endometrial cancer.

  12. Experience with multiple control groups in a large population-based case-control study on genetic and environmental risk factors.

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    Pomp, E R; Van Stralen, K J; Le Cessie, S; Vandenbroucke, J P; Rosendaal, F R; Doggen, C J M

    2010-07-01

    We discuss the analytic and practical considerations in a large case-control study that had two control groups; the first control group consisting of partners of patients and the second obtained by random digit dialling (RDD). As an example of the evaluation of a general lifestyle factor, we present body mass index (BMI). Both control groups had lower BMIs than the patients. The distribution in the partner controls was closer to that of the patients, likely due to similar lifestyles. A statistical approach was used to pool the results of both analyses, wherein partners were analyzed with a matched analysis, while RDDs were analyzed without matching. Even with a matched analysis, the odds ratio with partner controls remained closer to unity than with RDD controls, which is probably due to unmeasured confounders in the comparison with the random controls as well as intermediary factors. However, when studying injuries as a risk factor, the odds ratio remained higher with partner control subjects than with RRD control subjects, even after taking the matching into account. Finally we used factor V Leiden as an example of a genetic risk factor. The frequencies of factor V Leiden were identical in both control groups, indicating that for the analyses of this genetic risk factor the two control groups could be combined in a single unmatched analysis. In conclusion, the effect measures with the two control groups were in the same direction, and of the same order of magnitude. Moreover, it was not always the same control group that produced the higher or lower estimates, and a matched analysis did not remedy the differences. Our experience with the intricacies of dealing with two control groups may be useful to others when thinking about an optimal research design or the best statistical approach.

  13. Genetic Variation in POU4F3 and GRHL2 Associated with Noise-Induced Hearing Loss in Chinese Population: A Case-Control Study

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    Xiangrong Xu

    2016-06-01

    Full Text Available Noise-induced hearing loss (NIHL is an important occupational disease worldwide resulting from interactions between genetic and environmental factors. The purpose of this study was to examine whether genetic variations in POU4F3 and GRHL2 may influence susceptibility to NIHL in the Chinese population. A matched case-control study was carried out among 293 hearing loss individuals and 293 normal hearing workers drawn from a population of 3790 noise-exposed workers. Ten single-nucleotide polymorphisms (SNPs in POU4F3 and GRHL2 were selected and genotyped. Logistic regression was performed to analyze the main effects of SNPs and the interactions between noise exposure and SNPs. Moreover, the interactions between predictor haplotypes and noise exposure were also analyzed. Analysis revealed that the CC genotype of rs1981361 in the GRHL2 gene was associated with a higher risk of NIHL (adjusted OR = 1.59; 95% CI: 1.08–2.32, p = 0.018. Additionally, the GG genotype of rs3735715 in the GRHL2 gene was also a risk genotype (adjusted OR = 1.48; 95% CI: 1.01–2.19, p = 0.046. Significant interactions were found between rs3735715, rs1981361 (GRHL2, rs1368402 as well as rs891969 (POU4F3 and noise exposure in the high-level exposure groups. Furthermore, the protective haplotype CA in the POU4F3 gene and the risk haplotype GCCG in the GRHL2 gene were identified combined with noise exposure. These results indicated that GRHL2 might be an NIHL susceptibility gene, but the effect of POU4F3 on NIHL could only be detected when taking noise exposure into account, and their effects were enhanced by higher levels of noise exposure. However, the differences were not significant after the Bonferroni correction was applied. These results should be seen as suggestive.

  14. Fine mapping of genetic polymorphisms of pulmonary tuberculosis within chromosome 18q11.2 in the Chinese population: a case-control study

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    Dai Yaoyao

    2011-10-01

    Full Text Available Abstract Background Recently, one genome-wide association study identified a susceptibility locus of rs4331426 on chromosome 18q11.2 for tuberculosis in the African population. To validate the significance of this susceptibility locus in other areas, we conducted a case-control study in the Chinese population. Methods The present study consisted of 578 cases and 756 controls. The SNP rs4331426 and other six tag SNPs in the 100 Kbp up and down stream of rs4331426 on chromosome 18q11.2 were genotyped by using the Taqman-based allelic discrimination system. Results As compared with the findings from the African population, genetic variation of the SNP rs4331426 was rare among the Chinese. No significant differences were observed in genotypes or allele frequencies of the tag SNPs between cases and controls either before or after adjusting for age, sex, education, smoking, and drinking history. However, we observed strong linkage disequilibrium of SNPs. Constructed haplotypes within this block were linked the altered risks of tuberculosis. For example, in comparison with the common haplotype AA(rs8087945-rs12456774, haplotypes AG(rs8087945-rs12456774 and GA(rs8087945-rs12456774 were associated with a decreased risk of tuberculosis, with the adjusted odds ratio(95% confidence interval of 0.34(0.27-0.42 and 0.22(0.16-0.29, respectively. Conclusions Susceptibility locus of rs4331426 discovered in the African population could not be validated in the Chinese population. None of genetic polymorphisms we genotyped were related to tuberculosis in the single-point analysis. However, haplotypes on chromosome 18q11.2 might contribute to an individual's susceptibility. More work is necessary to identify the true causative variants of tuberculosis.

  15. Investigation of established genetic risk variants for glioma in prediagnostic samples from a population-based nested case-control study.

    Science.gov (United States)

    Wibom, Carl; Späth, Florentin; Dahlin, Anna M; Langseth, Hilde; Hovig, Eivind; Rajaraman, Preetha; Johannesen, Tom Børge; Andersson, Ulrika; Melin, Beatrice

    2015-05-01

    Although glioma etiology is poorly understood in general, growing evidence indicates a genetic component. Four large genome-wide association studies (GWAS) have linked common genetic variants with an increased glioma risk. However, to date, these studies are based largely on a case-control design, where cases have been recruited at the time of or after diagnosis. They may therefore suffer from a degree of survival bias, introduced when rapidly fatal cases are not included. To confirm glioma risk variants in a prospective setting, we have analyzed 11 previously identified risk variants in a set of prediagnostic serum samples with 598 cases and 595 matched controls. Serum samples were acquired from The Janus Serum Bank, a Norwegian population-based biobank reserved for cancer research. We confirmed the association with glioma risk for variants within five genomic regions: 8q24.21 (CCDC26), 9p21.3 (CDKN2B-AS1), 11q23.3 (PHLDB1), 17p13.1 (TP53), and 20q13.33 (RTEL1). However, previously identified risk variants within the 7p11.2 (EGFR) region were not confirmed by this study. Our results indicate that the risk variants that were confirmed by this study are truly associated with glioma risk and may, consequently, affect gliomagenesis. Though the lack of positive confirmation of EGFR risk variants may be attributable to relatively limited statistical power, it nevertheless raises the question whether they truly are risk variants or markers for glioma prognosis. Our findings indicate the need for further studies to clarify the role of glioma risk loci with respect to prolonged survival versus etiology. ©2015 American Association for Cancer Research.

  16. Genetic variants on chromosome 8q24 and colorectal neoplasia risk: a case-control study in China and a meta-analysis of the published literature.

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    Mian Li

    Full Text Available Previous studies have found that common genetic variants on chromosome 8q24 are associated with the risk of developing colorectal neoplasia. We conducted a hospital-based case-control study, including 435 cases and 788 unrelated controls to investigate the associations between common variants on 8q24 and the risk of colorectal cancer in a Chinese population. We also evaluated the association of rs6983267 with colorectal neoplasia in the published literature via a meta-analysis study. We found that rs6983267 was significantly associated with the risk of colorectal cancer in the Chinese population, with an adjusted odds-ratio (OR for the GT heterozygotes and GG homozygotes of 1.30 (95% CI= 0.98-1.71, P = 0.069 and 1.66 (95% CI = 1.18-2.34, P = 0.004, respectively, compared to the TT homozygotes, with a P-trend value of 0.003. No association was found for the other three loci (rs16901979, rs1447295 and rs7837688. In the meta-analysis of the published genetic association studies, the rs6983267 variant was found to be associated with an increased risk of colorectal neoplasia. The heterozygous GT carriers showed a 20% increased risk of colorectal neoplasia (OR= 1.20, 95% CI= 1.16-1.25; random effects model with a summary OR for homozygous GG carriers of 1.39 (95% CI= 1.32-1.48; random effects model compared to the TT genotype carriers. We found no significant differences between the association of rs6983267 and colorectal cancer and colorectal adenomas. In summary, our study confirms that the variant rs6983267 is a risk factor for colorectal neoplasia in various populations, including the Chinese population.

  17. Differential impact of statin on new-onset diabetes in different age groups: a population-based case-control study in women from an asian country.

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    Chih-Wei Chen

    Full Text Available BACKGROUND: Statins reduce cardiovascular risks but increase the risk of new-onset diabetes (NOD. The aim of this study is to determine what effect, if any, statins have on the risk of NOD events in a population-based case-control study. An evaluation of the relationship between age and statin-exposure on NOD risks was further examined in a female Asian population. METHOD: In a nationwide case-controlled study, the authors assessed 1065 female NOD patients and 10650 controls with matching ages, genders and physician visit dates. The impact of statin-exposure on NOD was examined through multiple logistic regression models. Subgroup analysis for exploring the risk of NOD and statin-exposure in different age groups was performed. RESULTS: Statin-exposure was statistically significantly associated with increased new-onset diabetes risks using multivariate analysis. Interaction effect between age and statin-exposure on NOD risk was noted. For atorvastatin, the risk of cDDDs>60 was highest among the 55-64 year-olds (adjusted odds ratio [OR], 8.0; 95% confidence interval [CI], 2.57-24.90. For rosuvastatin, the risk of cDDDs>60 was highest among the 40-54 year-olds (adjusted OR, 14.8; 95% CI, 2.27-96.15. For simvastatin, the risk of cDDDs>60 was highest among the 55-64 year-olds (adjusted OR, 15.8; 95% CI, 5.77-43.26. For pravastatin, the risk of cDDDs>60 was highest among the 55-64 year-olds (adjusted OR, 14.0; 95% CI, 1.56-125.18. CONCLUSIONS: This population-based study found that statin use is associated with an increased risk of NOD in women. The risk of statin-related NOD was more evident for women aged 40-64 years compared to women aged 65 or more, and was cumulative-dose dependent. The use of statins should always be determined by weighing the clinical benefits and potential risks for NOD, and the patients should be continuously monitored for adverse effects.

  18. Percentage height of center of mass is associated with the risk of falls among elderly women: A case-control study.

    Science.gov (United States)

    Almeida, Cláudio W L; Castro, Charlles H M; Pedreira, Paulo G; Heymann, Roberto E; Szejnfeld, Vera L

    2011-06-01

    Falls are a serious health problem for aged people, causing social and economic burden. Despite being an important determinant of balance, the positioning of the center of mass (COM) has not been evaluated as a risk factor for falls. This study examined the association between the percentage height of COM (%COM) and the risk of falls in the elderly. Healthy women aged 60 years and older were consecutively selected in a case-control study. Forty-eight individuals classified as "fallers" (having suffered two or more falls in the previous year) were the cases while 48 age and weight-matched women with one fall or no falls in the previous year were the controls ("non-fallers"). Body composition and bone mineral density (BMD) by DXA, 30-second chair stand test, abdominal circumference, Berg's balance scale and %COM using the reaction board method were evaluated in all participants. Body composition parameters were not significantly different between groups. Spine and hip BMD tended to be lower in the fallers, but the difference was significant only at the femoral neck (0.80±0.10g/cm(2) versus 0.87±0.76g/cm(2); pfalls. Further work is needed in order to determine the value of board reaction measurements in a clinical setting to identify patients at high risk. Copyright © 2011 Elsevier B.V. All rights reserved.

  19. Symptoms of anxiety and depression during pregnancy and their association with low birth weight in Chinese women: a nested case control study.

    Science.gov (United States)

    Yang, Shaoping; Yang, Rong; Liang, Shengwen; Wang, Jing; Weaver, Nancy L; Hu, Ke; Hu, Ronghua; Trevathan, Edwin; Huang, Zhen; Zhang, Yiming; Yin, Ting; Chang, Jen Jen; Zhao, Jinzhu; Shen, Longjiao; Dong, Guanghui; Zheng, Tongzhang; Xu, Shunqing; Qian, Zhengmin; Zhang, Bin

    2017-04-01

    This study is a nested case control study from a population-based cohort study conducted in Wuhan, China. The aim is to estimate the association between symptoms of depression during pregnancy (DDP), anxiety during pregnancy(ADP), and depression with anxiety during pregnancy (DADP) and low birth weight (LBW) and to examine the extent to which preterm birth (PTB) moderates these associations. Logistic regression analyses were used to model associations between DDP, ADP, and DADP and LBW. Models were stratified by the presence or absence of PTB to examine moderating effects. From the cohort study, 2853 had a LBW baby (cases); 5457 pregnant women served as controls. Women with DDP or ADP only were not at higher risk of having a LBW baby, but DADP was associated with increased risk of LBW (crude OR 1.41, 95% CI 1.17-1.70; adjusted OR 1.29, 95% CI 1.07-1.57), and the significant association was particularly evident between DADP and LBW in PTB, but not in full-term births. Our data suggests that DADP is related to an increased risk of LBW and that this association is most present in PTBs.

  20. Death of a son is associated with risk of suicide among parous women in Taiwan: a nested case-control study.

    Science.gov (United States)

    Chen, Chih-Cheng; Kuo, Chien-Chun; Wu, Trong-Neng; Yang, Chun-Yuh

    2012-01-01

    The impact of the sex of a deceased child on maternal suicide has not been studied. We examined whether the death of a child, especially a son, increased the risk of suicide among parous Taiwanese women. This matched case-control study was done within a cohort of 1 292 462 Taiwanese women who experienced a first and singleton childbirth between 1 January 1978 and 31 December 1987 and were followed up until 31 December 2008. From the cohort, 2701 suicide cases were identified and 2701 controls were randomly selected. Multiple logistic regression was used to estimate the risk of suicide associated with the death of a child. The adjusted odds ratios (ORs) for suicide among mothers whose son had died were 2.60 (95% CI = 1.18-5.73), 2.58 (1.28-5.20), and 4.20 (0.79-22.45) for death of a son aged younger than 1 year, 1 to 17 years, and 18 years or older. The ORs for suicide associated with the death of a daughter were not statistically significant: the respective adjusted ORs were 1.86 (0.82-4.62), 1.38 (0.54-3.49), and 2.48 (0.40-15.51). The death of a child, especially a son, increased the risk of maternal suicide, which supports the notion that preference for a son is firmly rooted in traditional Chinese culture.

  1. The relationship between weight gain during pregnancy and urinary tract infections in pregnant women of Shahrekord, by using the “Nested case-control study”, in 2013

    Science.gov (United States)

    Rejali, Mehri; Ahmadi, Seyede Soghra; Hassanzadeh, Akbar; Yazdani, Rezvan; Ahmadi, Seyede Nafiseh

    2015-01-01

    Background and Objectives: Pregnancy is one of the most important and risky periods in mothers and the fetus life, which plays a key role in health and social activity of the person, family and community. This study is trying to see if there is a relation between increasing weight and urinary tract infection (UTI) in pregnancy by using the open nested case-control study in the city of Shahrekord. Materials and Methods: In a nested case-control study, one cohort including 832 patients was examined until week 26 to 30 of pregnancy and their UTIs were studied. The required information was collected by examining the health records of pregnant women and completion of the data registration forms. Data collection was controlled by using SPSS and analyzed by using an independent t-test, Chi-square test, Pearson correlation and logistic regression. Results: According to the results of the cohort study with 832 individuals, average weight gain of the group with a UTI was 11.13 ± 3.9 kg and it was 10.63 ± 3.9 kg in the group without UTI, showing no statistically significant difference (P = 0.245). According to the results, genitourinary problems had the highest predictive value for UTIs and the numbers of infertility and the childbirth variables were in the second and third positions, respectively. Conclusion: According to the results study we can conclude that screening and treatment of UTIs have been on time and appropriate in health systems of the city of Shahrekord which have lead to the reduction of infant and maternal diseases even with the condition in having no UTI, and continuing this process for screening and treatment is recommended. PMID:27462626

  2. The relationship between weight gain during pregnancy and urinary tract infections in pregnant women of Shahrekord, by using the "Nested case-control study", in 2013.

    Science.gov (United States)

    Rejali, Mehri; Ahmadi, Seyede Soghra; Hassanzadeh, Akbar; Yazdani, Rezvan; Ahmadi, Seyede Nafiseh

    2015-01-01

    Pregnancy is one of the most important and risky periods in mothers and the fetus life, which plays a key role in health and social activity of the person, family and community. This study is trying to see if there is a relation between increasing weight and urinary tract infection (UTI) in pregnancy by using the open nested case-control study in the city of Shahrekord. In a nested case-control study, one cohort including 832 patients was examined until week 26 to 30 of pregnancy and their UTIs were studied. The required information was collected by examining the health records of pregnant women and completion of the data registration forms. Data collection was controlled by using SPSS and analyzed by using an independent t-test, Chi-square test, Pearson correlation and logistic regression. According to the results of the cohort study with 832 individuals, average weight gain of the group with a UTI was 11.13 ± 3.9 kg and it was 10.63 ± 3.9 kg in the group without UTI, showing no statistically significant difference (P = 0.245). According to the results, genitourinary problems had the highest predictive value for UTIs and the numbers of infertility and the childbirth variables were in the second and third positions, respectively. According to the results study we can conclude that screening and treatment of UTIs have been on time and appropriate in health systems of the city of Shahrekord which have lead to the reduction of infant and maternal diseases even with the condition in having no UTI, and continuing this process for screening and treatment is recommended.

  3. Relationship of family formation characteristics with unsafe abortion: is it confounded by women's socio-economic status? - A case-control study from Sri Lanka.

    Science.gov (United States)

    Arambepola, Carukshi; Rajapaksa, Lalini C; Attygalle, Deepika; Moonasinghe, Loshan

    2016-06-17

    Literature shows that choice for unsafe abortion is often driven by poverty. However, factors related to the family formation behaviour of women are also implied as determinants of this decision. This study assessed which family formation characteristics of women are associated with the risk of unsafe abortion, without being confounded by their low socio-economic status among Sri Lankan women admitted to hospital following post-abortion complications. An unmatched case-control study was conducted in nine hospitals in eight districts in Sri Lanka among 171 women with post-abortion complications following unsafe abortion (Cases) and 600 postpartum mothers admitted to same hospitals during the same period for delivery of term unintended pregnancies (Controls). Interviewer-administered-questionnaires obtained demographic, socio-economic and family formation related characteristics. Risk factors of abortion were assessed by odds-ratio (OR), adjusted for their socio-economic status in logistic regression analysis. Low socio-economic status, characterised by low-education (adjusted OR = 1.5; 95 % CI = 1.1-2.4) and less/unskilled occupations (2.3; 1.4-3.6) was a significant risk factor for unsafe abortion. Independent of this risk, being unmarried (9.3; 4.0-21.6), failure in informed decisions about desired family size (2.2; 1.4-3.5), not having a girl-child (2.2; 1.4-3.4) and longer average birth intervals (0.7 years; 0.6-0.8) signified the vulnerability of women for unsafe abortion. Cases were as fast as the controls in their family completion (4.3 versus 4.5 years; p = 0.4), but were at increased risk for abortion, if their average birth intervals (including the last one) were longer. Previous contraceptive use, age at reproductive events or partners' characteristics did not impart any risk for abortion. Low socio-economic status is not the most influencing risk factor for unsafe abortions leading to complications, but many other factors in relation to

  4. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.

    Science.gov (United States)

    Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael E; Schoemaker, Minouk J; Folkerd, Elizabeth J; Haynes, Ben P; Hopper, John L; Southey, Melissa C; Dite, Gillian S; Apicella, Carmel; Schmidt, Marjanka K; Broeks, Annegien; Van't Veer, Laura J; Atsma, Femke; Muir, Kenneth; Lophatananon, Artitaya; Fasching, Peter A; Beckmann, Matthias W; Ekici, Arif B; Renner, Stefan P; Sawyer, Elinor; Tomlinson, Ian; Kerin, Michael; Miller, Nicola; Burwinkel, Barbara; Marme, Frederik; Schneeweiss, Andreas; Sohn, Christof; Guénel, Pascal; Truong, Therese; Cordina, Emilie; Menegaux, Florence; Bojesen, Stig E; Nordestgaard, Børge G; Flyger, Henrik; Milne, Roger; Zamora, M Pilar; Arias Perez, Jose Ignacio; Benitez, Javier; Bernstein, Leslie; Anton-Culver, Hoda; Ziogas, Argyrios; Clarke Dur, Christina; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Dieffenbach, Aida Karina; Meindl, Alfons; Heil, Joerg; Bartram, Claus R; Schmutzler, Rita K; Brauch, Hiltrud; Justenhoven, Christina; Ko, Yon-Dschun; Nevanlinna, Heli; Muranen, Taru A; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Dörk, Thilo; Bogdanova, Natalia V; Antonenkova, Natalia N; Lindblom, Annika; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M; Chenevix-Trench, Georgia; Beesley, Jonathan; Wu, Anna H; Van den Berg, David; Tseng, Chiu-Chen; Lambrechts, Diether; Smeets, Dominiek; Neven, Patrick; Wildiers, Hans; Chang-Claude, Jenny; Rudolph, Anja; Nickels, Stefan; Flesch-Janys, Dieter; Radice, Paolo; Peterlongo, Paolo; Bonanni, Bernardo; Pensotti, Valeria; Couch, Fergus J; Olson, Janet E; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S; Giles, Graham G; Severi, Gianluca; Baglietto, Laura; Haiman, Chris; Simard, Jacques; Goldberg, Mark S; Labrèche, France; Dumont, Martine; Soucy, Penny; Teo, Soo; Yip, Cheng Har; Phuah, Sze Yee; Cornes, Belinda K; Kristensen, Vessela N; Grenaker Alnæs, Grethe; Børresen-Dale, Anne-Lise; Zheng, Wei; Winqvist, Robert; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Devillee, Peter; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Sherman, Mark E; Hall, Per; Schoof, Nils; Hooning, Maartje; Hollestelle, Antoinette; Oldenburg, Rogier A; Tilanus-Linthorst, Madeleine; Liu, Jianjun; Cox, Angie; Brock, Ian W; Reed, Malcolm W R; Cross, Simon S; Blot, William; Signorello, Lisa B; Pharoah, Paul D P; Dunning, Alison M; Shah, Mitul; Kang, Daehee; Noh, Dong-Young; Park, Sue K; Choi, Ji-Yeob; Hartman, Mikael; Miao, Hui; Lim, Wei Yen; Tang, Anthony; Hamann, Ute; Försti, Asta; Rüdiger, Thomas; Ulmer, Hans Ulrich; Jakubowska, Anna; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Sangrajrang, Suleeporn; Gaborieau, Valerie; Brennan, Paul; McKay, James; Slager, Susan; Toland, Amanda E; Vachon, Celine; Yannoukakos, Drakoulis; Shen, Chen-Yang; Yu, Jyh-Cherng; Huang, Chiun-Sheng; Hou, Ming-Feng; González-Neira, Anna; Tessier, Daniel C; Vincent, Daniel; Bacot, Francois; Luccarini, Craig; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Jean; Easton, Douglas F; García-Closas, Montserrat; Dowsett, Mitch; Ashworth, Alan; Swerdlow, Anthony J; Peto, Julian; dos Santos Silva, Isabel; Fletcher, Olivia

    2014-05-26

    We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics. We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (P(trend) = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (P(trend) = 0.005) but not cases (P(trend) = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (P(het) = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age ≥15 years (OR(het) = 0.84, 95% CI 0.75, 0.94; OR(hom) = 0.81, 95% CI 0.51, 1.30; P(trend) = 0.002) but not for those who had their menarche age ≤11 years (OR(het) = 1.06, 95% CI 0.95, 1.19, OR(hom) = 1.07, 95% CI 0.67, 1.72; P(trend) = 0.29). To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in

  5. Genetic Counseling for Breast Cancer Susceptibility in African American Women

    National Research Council Canada - National Science Library

    Hughes, Chanita

    2004-01-01

    .... The objectives of this study are to develop a Culturally Tailored Genetic (CTGC) protocol for African American women and evaluate its impact on decision-making and satisfaction about BRCAl/2 testing, quality of life, and cancer control practices...

  6. Genetic variations in the CLNK gene and ZNF518B gene are associated with gout in case-control sample sets.

    Science.gov (United States)

    Jin, Tian-Bo; Ren, Yongchao; Shi, Xugang; Jiri, Mutu; He, Na; Feng, Tian; Yuan, Dongya; Kang, Longli

    2015-07-01

    A genome-wide association study of gout in European populations identified 12 genetic variants strongly associated with risk of gout, but it is unknown whether these variants are also associated with gout risk in Chinese populations. A total of 145 patients with gout and 310 healthy control patients were recruited for a case-control association study. Twelve SNPs of CLNK and ZNF518B gene were genotyped, and association analysis was performed. Odds ratios (ORs) with 95 % confidence intervals (CIs) were used to assess the association. Overall, we found four risk alleles for gout in patients: the allele "G" of rs2041215 and rs1686947 in the CLNK gene by dominant model (OR 1.66; 95 % CI 1.04-2.63; p = 0.031) (OR 2.19; 95 % CI 1.38-3.46; p = 0.001) and additive model (OR 1.39; 95 % CI 1.00-1.93; p = 0.049) (OR 1.67; 95 % CI 1.19-2.32; p = 0.003), respectively, and the allele "A" of rs10938799 and rs10016022 in ZNF518B gene by recessive model (OR 4.66; 95 % CI 1.44-15.09; p = 0.008) (OR 4.54; 95 % CI 1.23-16.76; p = 0.020). Further haplotype analysis showed that the TCATTCTGA haplotype of CLNK was more frequent among patients with gout (adjusted OR 0.48; 95 % CI 0.24-0.95; p = 0.036). Additionally, polymorphisms of rs2041215, rs10938799, and rs17467273 were also correlated with clinical pathological parameters. This study provides evidence for gout susceptibility genes, CLNK and ZNF518B, in a Chinese population, which may have potential as diagnostic and prognostic marker for gout patients.

  7. Complex relationships between occupation, environment, DNA adducts, genetic polymorphisms and bladder cancer in a case-control study using a structural equation modeling.

    Directory of Open Access Journals (Sweden)

    Stefano Porru

    Full Text Available DNA adducts are considered an integrate measure of carcinogen exposure and the initial step of carcinogenesis. Their levels in more accessible peripheral blood lymphocytes (PBLs mirror that in the bladder tissue. In this study we explore whether the formation of PBL DNA adducts may be associated with bladder cancer (BC risk, and how this relationship is modulated by genetic polymorphisms, environmental and occupational risk factors for BC. These complex interrelationships, including direct and indirect effects of each variable, were appraised using the structural equation modeling (SEM analysis. Within the framework of a hospital-based case/control study, study population included 199 BC cases and 213 non-cancer controls, all Caucasian males. Data were collected on lifetime smoking, coffee drinking, dietary habits and lifetime occupation, with particular reference to exposure to aromatic amines (AAs and polycyclic aromatic hydrocarbons (PAHs. No indirect paths were found, disproving hypothesis on association between PBL DNA adducts and BC risk. DNA adducts were instead positively associated with occupational cumulative exposure to AAs (p = 0.028, whereas XRCC1 Arg 399 (p<0.006 was related with a decreased adduct levels, but with no impact on BC risk. Previous findings on increased BC risk by packyears (p<0.001, coffee (p<0.001, cumulative AAs exposure (p = 0.041 and MnSOD (p = 0.009 and a decreased risk by MPO (p<0.008 were also confirmed by SEM analysis. Our results for the first time make evident an association between occupational cumulative exposure to AAs with DNA adducts and BC risk, strengthening the central role of AAs in bladder carcinogenesis. However the lack of an association between PBL DNA adducts and BC risk advises that these snapshot measurements are not representative of relevant exposures. This would envisage new scenarios for biomarker discovery and new challenges such as repeated measurements at different

  8. Determinants of maternal near miss among women in public hospital maternity wards in Northern Ethiopia: A facility based case-control study.

    Directory of Open Access Journals (Sweden)

    Dejene Ermias Mekango

    Full Text Available In Ethiopia, 20,000 women die each year from complications related to pregnancy, childbirth and post-partum. For every woman that dies, 20 more experience injury, infection, disease, or disability. "Maternal near miss" (MNM, defined by the World Health Organization (WHO as a woman who nearly dies, but survives a complication during pregnancy, childbirth or within 42 days of a termination, is a proxy indicator of maternal mortality and quality of obstetric care. In Ethiopia, few studies have examined MNM. This study aims to identify determinants of MNM among a small population of women in Tigray, Ethiopia.Unmatched case-control study was conducted in hospitals in Tigray Region, Northern Ethiopia, from January 30-March 30, 2016. The sample included 103 cases and 205 controls recruited from among women seeking obstetric care at six (6 public hospitals. Clients with life-threatening obstetric complications, including hemorrhage, hypertensive diseases of pregnancy, dystocia, infection, and anemia or clinical signs of severe anemia (in women without hemorrhage were taken as cases and those with normal obstetric outcomes were controls. Cases were selected based on proportion to size allocation while systematic sampling was employed for controls. Binary and multiple variable logistic regression ("odds ratio" analyses were calculated at 95% CI.Roughly 90% of cases and controls were married and 25% experienced their first pregnancy before the age of 16 years. About two-thirds of controls and 45.6% of cases had gestational ages between 37-41 weeks. Among cases, severe obstetric hemorrhage (44.7%, hypertensive disorders (38.8%, dystocia (17.5%, sepsis (9.7% and severe anemia (2.9% were leading causes of MNM. Histories of chronic maternal medical problems like hypertension, diabetes were reported in 55.3% of cases and 33.2% of controls. Women with no formal education [AOR = 3.2;95%CI:1.24, 8.12], being less than 16 years of age at first pregnancy [AOR = 2

  9. The relationship of femoral neck shaft angle and adiposity to greater trochanteric pain syndrome in women. A case control morphology and anthropometric study

    Science.gov (United States)

    Fearon, AM; Stephens, S; Cook, JL; Smith, PN; Neeman, T; Cormick, W; Scarvell, JM

    2012-01-01

    Objective To evaluate if pelvic or hip width predisposed women to developing greater trochanteric pain syndrome (GTPS). Design Prospective case control study. Participants Four groups were included in the study: those gluteal tendon reconstructions (n=31, GTR), those with conservatively managed GTPS (n=29), those with hip osteoarthritis (n=20, OA) and 22 asymptomatic participants (ASC). Methods Anterior-posterior pelvic x-rays were evaluated for femoral neck shaft angle; acetabular index, and width at the lateral acetabulum, and the superior and lateral aspects of the greater trochanter. Body mass index, and waist, hip and greater trochanter girth were measured. Data were analysed using a one-way analysis of variance (ANOVA; posthoc Scheffe analysis), then multivariate analysis. Results The GTR group had a lower femoral neck shaft angle than the other groups (p=0.007). The OR (95% CI) of having a neck shaft angle of less than 134°, relative to the ASC group: GTR=3.33 (1.26 to 8.85); GTPS=1.4 (0.52 to 3.75); OA=0.85 (0.28 to 2.61). The OR of GTR relative to GTPS was 2.4 (1.01 to 5.6). No group difference was found for acetabular or greater trochanter width. Greater trochanter girth produced the only anthropometric group difference (mean (95% CI) in cm) GTR=103.8 (100.3 to 107.3), GTPS=105.9 (100.2 to 111.6), OA=100.3 (97.7 to 103.9), ASC=99.1 (94.7 to 103.5), (ANOVA: p=0.036). Multivariate analysis confirmed adiposity is associated with GTPS. Conclusion A lower neck shaft angle is a risk factor for, and adiposity is associated with, GTPS in women. PMID:22547561

  10. Functional Fitness and Self-Reported Quality of Life of Older Women Diagnosed with Knee Osteoarthrosis: A Cross-Sectional Case Control Study

    Directory of Open Access Journals (Sweden)

    Paula Andréa Malveira Cavalcante

    2015-01-01

    Full Text Available Aim. Utilizing a cross-sectional case control design, the aim of this study was to evaluate the functional fitness and self-reported quality of life differences in older people diagnosed with knee osteoarthrosis (O who participated in health promotion groups. Methods. Ninety older women were distributed into two groups: control without O of the knee (C, n=40 and a group diagnosed with primary and secondary knee O with grade II or higher, with definite osteophytes (OA, n=50. Functional fitness was evaluated by specific tests, and the time spent in physical activity and quality of life was evaluated by the IPAQ and WHOQOL (distributed in four domains: physical: P, psychological: PS, social: S, and environmental: E domain questionnaires. Results. No differences were found between ages of groups (C: 66±7; OA: 67±9; years. The values of the chair stand test (rep in the OA (13±5 group were different when compared to C group (22±5. For the 6-minute walk test (meters, the values obtained for the C (635±142 were higher (P<0.01 than the OA (297±143 group. The time spent in physical activity (min was greater (P<0.001 in the control (220±12 group compared to OA (100±10 group. Higher values (P<0.001 in all domains were found in the C (P: 69±16, PS: 72±17, S: 67±15, E: 70±15 group compared to OA (P: 48±7, PS: 43±8, S: 53±13, E: 47±14 group. Conclusion. Our data suggests that knee O, in older women, can promote a decline in time spent performing physical activity and functional fitness with decline in quality of life with an increase in sitting time.

  11. Are endometrial nerve fibres unique to endometriosis? A prospective case-control study of endometrial biopsy as a diagnostic test for endometriosis in women with pelvic pain.

    Science.gov (United States)

    Ellett, Lenore; Readman, Emma; Newman, Marsali; McIlwaine, Kate; Villegas, Rocio; Jagasia, Nisha; Maher, Peter

    2015-12-01

    Can the presence of endometrial nerve fibres be used as a diagnostic test for endometriosis in women with pelvic pain? Endometrial fine nerve fibres were seen in the endometrium of women both with and without endometriosis, making their detection a poor diagnostic tool for endometriosis. Laparoscopy and biopsy are currently the gold standard for making a diagnosis of endometriosis. It has been reported that small density nerve fibres in the functional layer of the endometrium are unique to women with endometriosis and hence nerve fibre detection could function as a less invasive diagnostic test of endometriosis. However, it may be that other painful conditions of the pelvis are also associated with these nerve fibres. We therefore focused this prospective study on women with pelvic pain to examine the efficacy of endometrial nerve fibre detection as a diagnostic test for endometriosis. This prospective case-control study conducted between July 2009 and July 2013 included 44 women with pelvic pain undergoing laparoscopic examination for the diagnosis of endometriosis. Immunohistochemical nerve fibre detection in endometrial curettings and biopsies using anti-protein gene product 9.5 was compared with surgical diagnosis. Paired endometrial biopsies and curettings were taken from patients with (n = 22, study group) and without (n = 22, control group) endometriosis. Tissue was analysed by immunohistochemistry and nerve fibres were counted whenever they were present in the functional layer of the endometrium. Fine nerve fibres were present in the eutopic endometrium of patients both with and without endometriosis. The presence of nerve fibres in curettings was not effective for either diagnosing or excluding endometriosis; sensitivity and specificity were 31.8 and 45.5% respectively, positive predictive value was 36.8% and negative predictive value was 40.0%. Few endometrial biopsy specimens were found to have nerve fibres present; sensitivity and specificity for

  12. Obesity-related hormones and endometrial cancer among postmenopausal women: a nested case-control study within the B~FIT cohort.

    Science.gov (United States)

    Dallal, Cher M; Brinton, Louise A; Bauer, Douglas C; Buist, Diana S M; Cauley, Jane A; Hue, Trisha F; Lacroix, Andrea; Tice, Jeffrey A; Chia, Victoria M; Falk, Roni; Pfeiffer, Ruth; Pollak, Michael; Veenstra, Timothy D; Xu, Xia; Lacey, James V

    2013-02-01

    Endometrial cancer risk is strongly influenced by obesity, but the mechanisms of action remain unclear. Leptin and adiponectin, secreted from adipose tissue, reportedly play a role in such carcinogenic processes as cell proliferation, angiogenesis, and insulin regulation. In this case-control study, nested within the Breast and Bone Follow-up of the Fracture Intervention Trial (n=15,595), we assessed pre-diagnostic serum leptin, total adiponectin, and high-molecular-weight (HMW) adiponectin in relation to endometrial cancer among postmenopausal women. During the 10-year follow-up, 62 incident endometrial cases were identified and matched to 124 controls on age, geographical site, time of fasting blood draw at baseline (1992-1993), and trial participation status. Adipokines and C-peptide were measured by ELISA. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were estimated via conditional logistic regression, with exposures categorized in tertiles (T). Multivariable models considered C-peptide, BMI (kg/m(2)), and estradiol (E2) as potential confounders. Endometrial cancer risk was significantly associated with higher leptin levels, adjusted for E2 and C-peptide (OR(T3 vs T1)=2.96; 95% CI, 1.21-7.25; P trend <0.01). After further adjustment for BMI, the estimates were attenuated and the positive trend was no longer statistically significant (OR(T3 vs T1)=2.11; 95% CI, 0.69-6.44; P trend=0.18). No significant associations were observed with adiponectin or HMW adiponectin and endometrial cancer. Our findings with leptin suggest that the leptin-BMI axis might increase endometrial cancer risk through mechanisms other than estrogen-driven proliferation. Continued exploration of these pathways in larger prospective studies may help elucidate mechanisms underlying observed obesity-endometrial cancer associations.

  13. Kyphoplasty vs conservative treatment: a case-control study in 110 post-menopausal women population. Is kyphoplasty better than conservative treatment?

    Science.gov (United States)

    Colangelo, D; Nasto, L A; Genitiempo, M; Formica, V M; Autore, G; Pambianco, V; Tamburrelli, F C; Cerulli, G; Pola, E

    2015-11-01

    Osteoporosis is a highly prevalent disease worldwide. Consequences of vertebral osteoporotic fractures include pain and progressive vertebral collapse resulting in spinal kyphosis, decreased quality of life, disability and mortality. Minimally invasive procedures represent an advance to the treatment of osteoporotic VCFs. Despite encouraging results reported by many authors, surgical intervention in an osteoporotic spine is fraught with difficulties. Advanced patients age and comorbidities are of great concern. We designed a retrospective case-control study on 110 post-menopausal women consecutively visited at our institution. Study population was split in a surgical and a conservative cohort, according to the provided treatment. Kyphoplasty treated patients had lower back pain VAS scores at 1 month as compared with conservatively treated patients (p < 0.05). EQ5D validated questionnaire also showed a better quality of life at 1 month for surgically treated patients (p < 0.05). SF-12 scores showed greater improvements at 1 month and 3 months with statistically significant difference between the two groups just at 3 months (p < 0.05). At 12 months, scores from all scales were not statistically different between the two cohorts, although surgically treated patients showed better trends than conservatively treated patients in pain and quality of life. Kyphoplasty was able to restore more than 54.55% of the original segmental kyphosis, whereas patients in conservative cohort lost 6.67% of the original segmental kyphosis on average. Kyphoplasty is a modern minimal invasive surgery, allowing faster recovery than bracing treatment. It can avoid the deformity in kyphosis due to VCF. In fact, the risk to develop a new vertebral fracture after the first one is very high.

  14. High resolution human leukocyte antigen (HLA) class I and class II allele typing in Mexican mestizo women with sporadic breast cancer: case-control study

    International Nuclear Information System (INIS)

    Cantú de León, David; Yu, Neng; Yunis, Edmond J; Granados, Julio; Pérez-Montiel, Delia; Villavicencio, Verónica; Carranca, Alejandro García; Betancourt, Alejandro Mohar; Acuña-Alonzo, Victor; López-Tello, Alberto; Vargas-Alarcón, Gilberto; Barquera, Rodrigo

    2009-01-01

    The development of breast cancer is multifactorial. Hormonal, environmental factors and genetic predisposition, among others, could interact in the presentation of breast carcinoma. Human leukocyte antigen (HLA) alleles play an important role in immunity (cellular immunity) and may be important genetic traits. HLAAllele-specific interaction has not been well established. Recently, several studies had been conducted in order to do so, but the results are controversial and in some instances contradictory. We designed a case-control study to quantify the association of HLA class I and II genes and breast cancer. HLA typing was performed by high resolution sequence-specific oligotyping after DNA amplification (PCR-SSOP) of 100 breast cancer Mexican mestizo patients and 99 matched healthy controls. HLA-A frequencies that we were able to observe that there was no difference between both groups from the statistical viewpoint. HLA-B*1501 was found three times more common in the case group (OR, 3.714; p = 0.031). HLA-Cw is not a marker neither for risk, nor protection for the disease, because we did not find significant statistical differences between the two groups. DRB1*1301, which is expressed in seven cases and in only one control, observing an risk increase of up to seven times and DRB1*1602, which behaves similarly in being present solely in the cases (OR, 16.701; 95% CI, 0.947 – 294.670). DQ*0301-allele expression, which is much more common in the control group and could be protective for the presentation of the disease (OR, 0.078; 95% CI, 0.027–0.223, p = 0.00001). Our results reveal the role of the MHC genes in the pathophysiology of breast cancer, suggesting that in the development of breast cancer exists a disorder of immune regulation. The triggering factor seems to be restricted to certain ethnic groups and certain geographical regions since the relevant MHC alleles are highly diverse. This is the first study in Mexican population where high resolutions HLA

  15. Associations of neonatal high birth weight with maternal pre-pregnancy body mass index and gestational weight gain: a case-control study in women from Chongqing, China.

    Science.gov (United States)

    Xie, Yao Jie; Peng, Rong; Han, Lingli; Zhou, Xiaoli; Xiong, Zhengai; Zhang, Yuan; Li, Junnan; Yao, Ruoxue; Li, Tingyu; Zhao, Yong

    2016-08-16

    To examine the associations of maternal pre-pregnancy body mass index (BMI) and gestational weight gain (GWG) with neonatal high birth weight (HBW) in a sample of Chinese women living in southwest China. A hospital-based case-control study was conducted in Chongqing, China. A total of 221 mothers who delivered HBW babies (>4.0 kg) were recruited as cases and 221 age-matched (2-year interval) mothers with normal birth weight babies (2.5-4.0 kg) were identified as controls. ORs were estimated using conditional logistic regression analysis. For the analysis, pre-pregnancy BMI was categorised as underweight/normal weight/overweight and obesity and GWG was categorised as inadequate/appropriate/excessive. Among the cases, mean pre-pregnancy BMI was 21.8±2.8 kg/m(2), mean GWG was 19.7±5.1 kg and mean neonatal birth weight was 4.2±0.2 kg. In the controls, the corresponding values were 21.1±3.1 kg/m(2), 16.4±5.0 kg and 3.3±0.4 kg, respectively. More cases than controls gained excessive weight during pregnancy (80.1% vs 48.4%, p0.05). GWG was positively related to HBW after adjustment for gravidity, gestational age, newborns' gender and family income (OR=1.18, 95% CI 1.12 to 1.25; pweight women (OR=10.27, 95% CI 3.20 to 32.95; p<0.001). Overall, the findings suggest a significantly positive association between GWG and HBW. However, pre-pregnancy BMI shows no independent relationship with HBW. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  16. Association of a common allelic polymorphism (C677T) in the methylene tetrahydrofolate reductase gene with a reduced risk of osteoporotic fractures. A case control study in Danish postmenopausal women

    DEFF Research Database (Denmark)

    Jørgensen, H L; Madsen, J S; Madsen, B

    2002-01-01

    of this study was to investigate the influence of this mutation on peripheral measures of bone density and on the odds ratios (OR) for hip and lower forearm fracture in a case control study of Danish postmenopausal women. A total of 74 women with lower forearm fracture, 41 women with hip fracture, and 207 age......-matched controls were included. All had broadband ultrasound attenuation (BUA) and speed of sound (SOS) measured at the heel as well as bone mineral density (BMD) measured by dual X-ray absorptiometry at the distal forearm. The MTHFR (C677T) genotypes were determined using polymerase chain reaction restriction...

  17. Sensitive and specific markers for insulin resistance, hyperandrogenemia, and inappropriate gonadotrophin secretion in women with polycystic ovary syndrome: a case-control study from Bahrain

    Directory of Open Access Journals (Sweden)

    Al-Ayadhi MA

    2012-05-01

    Full Text Available Jamal Golbahar,1,2,* Maha Al-Ayadhi,2,* Negalla Mohan Das,2 Khalid Gumaa,2 1Department of Molecular Medicine, Al-Jawhara Centre for Genetic Diagnosis and Research, 2Department of Medical Biochemistry, College of Medicine and Medical Sciences, AGU, Manama, Bahrain *These authors contributed equally to this articleBackground: In women with polycystic ovary syndrome (PCOS, despite a high prevalence of insulin resistance, hyperandrogenemia, and disturbances in the secretion of gonadotrophin, the principal causes of biochemical abnormalities and the best endocrine markers for PCOS have not been fully identified.Subjects and methods: Serum levels of insulin, glucose, follicle-stimulating hormone (FSH, luteinizing hormone (LH, total testosterone, estrogen, sex hormone-binding capacity (SHBG, and other related indices such as homeostasis model assessment, insulin glucose ratios, LH/FSH ratios, and the free androgen index (FAI were determined and compared in women with PCOS (n = 50 and women without PCOS (n = 50.Results: In multivariate logistic regression analyses, among all insulin resistance indices, only hyperinsulinemia (odds ratio [OR] = 2.6; confidence interval [CI]: 1.3–5.2; P = 0.008 was significantly and independently associated with PCOS when adjusted for body mass index (BMI, hyperandrogenemia, and LH/FSH ratios. The LH/FSH ratio (OR = 5.4; CI: 1.2–23.0, P = 0.03 was the only marker among those indices for inappropriate gonadotrophin secretion that significantly and independently associated with PCOS when adjusted for BMI and hyperinsulinemia. Among those indices for hyperandrogenemia, FAI (OR = 1.1; CI: 1.0–2.7; P = 0.02 and SHBG (OR = 1.2; CI: 1.2–3.4; P = 0.03 were significantly and independently associated with PCOS when adjusted for BMI and hyperinsulinemia. In addition, receiver operating characteristic analysis showed that the best predictive markers for PCOS were insulin (area under the curve [AUC] = 0.944; CI: 0.887–0

  18. Genetic Counseling for Breast Cancer Susceptibility in African American Women

    National Research Council Canada - National Science Library

    Hughes, Chanita

    2005-01-01

    .... The objectives of this study are to develop a Culturally Tailored Genetic (CTGC) protocol for African American women and evaluate its impact on decision-making and satisfaction about BRCA1/2 testing, quality of life, and cancer control practices...

  19. Methyl-Deficient Diets and Risks of Breast Cancer Among African-American Women: A Case-Control Study by Methylation Status of the ER Gene

    National Research Council Canada - National Science Library

    Zhu, Kangmin

    2001-01-01

    This is the final report of our case-control study testing the hypothesis that methyl-deficient diets are more likely to be related to breast cancer with methylated CpG islands of the estrogen-receptor (ER) gene...

  20. The -351A>G genetic polymorphism in the estrogen receptor alpha gene and risk of endometriosis: a case-control study

    Directory of Open Access Journals (Sweden)

    Reihaneh Asadi

    2015-03-01

    Conclusion: The results do not support the previous findings of an association between -351A>G genetic polymorphism in ESR1 gene and endometriosis. Therefore, comprehensive genetic approaches including linkage analyses and family-based tests, together with a number of replication studies with large sample size, are needed to make conclusive claims about the role of this genetic polymorphism in susceptibility to endometriosis.

  1. Injectable and oral contraceptive use and cancers of the breast, cervix, ovary, and endometrium in black South African women: case-control study.

    Directory of Open Access Journals (Sweden)

    Margaret Urban

    Full Text Available Oral contraceptives are known to influence the risk of cancers of the female reproductive system. Evidence regarding the relationship between injectable contraceptives and these cancers is limited, especially in black South Africans, among whom injectable contraceptives are used more commonly than oral contraceptives.We analysed data from a South African hospital-based case-control study of black females aged 18-79 y, comparing self-reported contraceptive use in patients with breast (n = 1,664, cervical (n = 2,182, ovarian (n = 182, and endometrial (n = 182 cancer, with self-reported contraceptive use in 1,492 control patients diagnosed with cancers with no known relationship to hormonal contraceptive use. We adjusted for potential confounding factors, including age, calendar year of diagnosis, education, smoking, alcohol, parity/age at first birth, and number of sexual partners. Among controls, 26% had used injectable and 20% had used oral contraceptives. For current and more recent users versus never users of oral or injectable contraceptives, the odds ratios (ORs for breast cancer were significantly increased in users of oral and/or injectable contraceptives (OR 1.66, 95% CI 1.28-2.16, p<0.001 and separately among those exclusively using oral (1.57, 1.03-2.40, p = 0.04 and exclusively using injectable (OR 1.83, 1.31-2.55, p<0.001 contraceptives; corresponding ORs for cervical cancer were 1.38 (1.08-1.77, p = 0.01, 1.01 (0.66-1.56, p = 0.96, and 1.58 (1.16-2.15, p = 0.004. There was no significant increase in breast or cervical cancer risk among women ceasing hormonal contraceptive use ≥10 y previously (p = 0.3 and p = 0.9, respectively. For durations of use ≥5 y versus never use, the ORs of ovarian cancer were 0.60 (0.36-0.99, p = 0.04 for oral and/or injectable contraceptive use and 0.07 (0.01-0.49, p = 0.008 for injectable use exclusively; corresponding ORs for endometrial cancer were 0

  2. Moving into a new era of periodontal genetic studies: relevance of large case-control samples using severe phenotypes for genome-wide association studies

    NARCIS (Netherlands)

    Vaithilingam, R.D.; Saffi, S.H.; Baharuddin, N.A.; Ng, C.C.; Cheong, S.C.; Bartold, P.M.; Schaefer, A.S.; Loos, B.G.

    2014-01-01

    Studies to elucidate the role of genetics as a risk factor for periodontal disease have gone through various phases. In the majority of cases, the initial ‘hypothesis-dependent’ candidate-gene polymorphism studies did not report valid genetic risk loci. Following a large-scale replication study,

  3. Higher Fish Intake Is Associated with a Lower Risk of Hip Fractures in Chinese Men and Women: A Matched Case-Control Study

    OpenAIRE

    Fan, Fan; Xue, Wen-Qiong; Wu, Bao-Hua; He, Ming-Guang; Xie, Hai-Li; Ouyang, Wei-Fu; Tu, Su-lan; Chen, Yu-Ming

    2013-01-01

    OBJECTIVES: Fish is rich in nutrients that are favorable to bone health, but limited data are available regarding the relationship between fish intake and hip fractures. Our study examined the association between habitual fish intake and risk of hip fractures. METHODS: A case-control study was performed between June 2009 and June 2012 in Guangdong Province, China. Five hundred and eighty-one hip fracture incident cases, aged 55 to 80 years (mean: 71 years), were enrolled from four hospitals. ...

  4. Psychosocial development of full term singletons, born after preimplantation genetic diagnosis (PGD) at preschool age and family functioning: a prospective case-controlled study and multi-informant approach.

    Science.gov (United States)

    Winter, C; Van Acker, F; Bonduelle, M; Desmyttere, S; Nekkebroeck, J

    2015-05-01

    Do full term singletons born after preimplantation genetic diagnosis (PGD) differ in their psychosocial functioning from children born after intracytoplasmic sperm injection (ICSI) and spontaneous conceived controls (SC)? The psychosocial maturation process of 5-6-year-old PGD children is comparable between the three conception groups (PGD, ICSI and SC). In general, a lot of research has been published regarding follow-up of children born after artificial reproductive technologies (ART), which mainly is reassuring. But the ART population itself is marked by broad diversity [IVF, ICSI, gamete donation, preimplantation genetic screening (PGS) or PGD] which complicates comparisons. Some literature concerning the socio-emotional development of PGD/PGS children is available and it suggests a normal maturation process. However, the complex reality of PGD families (e.g. safety of the technique and psychological burden of genetic histories) asks for an exclusive PGD sample with matched control groups and a multi-informant approach. Between April 2011 and May 2013, the psychosocial wellbeing of preschoolers and their families born after PGD was assessed in a prospective case-controlled, matched follow-up study, with a multi-informant approach. A group of 47 PGD, 50 ICSI and 55 SC 5-6-year-old children participated in a follow-up study performed at the Centre for Medical Genetics of the Universitair Ziekenhuis Brussel (UZ Brussel). Assessments took place in the hospital and in kindergartens. Children performed the Bene-Anthony family relations test (FRT), yielding their perceptions upon family relationships. Parents and teachers completed the child behaviour checklist (CBCL) and Caregiver Teacher Report Form (C-/TRF), respectively. Parental and family functioning were measured by the NEO-FFi, the parenting stress index (PSI), the Greenberger Work-Parenting Investment Questionnaire and the Marlowe-Crowne Social Desirability Scale (MCSDS). Statistical analysis was performed by

  5. Prostate Cancer Risk in Relation to IGF-I and Its Genetic Determinants: A Case Control Study Within the Cancer Prostate Sweden Project (CAPS)

    National Research Council Canada - National Science Library

    Kaaks, Rudolf J

    2005-01-01

    A large genetic association study is being conducted, to examine relationships of prostate cancer risk with polymorphic variation in a series of selected candidate genes that are involved in pathways...

  6. Prostate Cancer Risk in Relation to IGF-I and Its Genetic Determinants: A Case Control Study Within the Cancer Prostate Sweden Project (CAPS)

    National Research Council Canada - National Science Library

    Kaaks, Rudolf

    2004-01-01

    A large genetic association study is being conducted, to examine relationships of prostate cancer risk with polymorphic variation in a series of selected candidate genes that are involved in pathways...

  7. Prostate Cancer Risk in Relation to IGF-1 and its Genetic Determinants: A Case Control Study Within the Cancer Prostate Sweden Project (CAPS)

    National Research Council Canada - National Science Library

    Kaaks, Rudolf J

    2006-01-01

    Purpose and scope: A large genetic association study is being conducted to examine relationships of prostate cancer risk with polymorphic variation in a series of selected candidate genes that are involved in pathways...

  8. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women

    Science.gov (United States)

    ... their family history of cancer. Depending on a woman’s family history, the doctor or nurse may then use a ... against routine genetic counseling or BRCA testing of women whose family history is not associated with an increased risk for ...

  9. Environment And Genetics in Lung cancer Etiology (EAGLE study: An integrative population-based case-control study of lung cancer

    Directory of Open Access Journals (Sweden)

    Colombi Antonio

    2008-06-01

    Full Text Available Abstract Background Lung cancer is the leading cause of cancer mortality worldwide. Tobacco smoking is its primary cause, and yet the precise molecular alterations induced by smoking in lung tissue that lead to lung cancer and impact survival have remained obscure. A new framework of research is needed to address the challenges offered by this complex disease. Methods/Design We designed a large population-based case-control study that combines a traditional molecular epidemiology design with a more integrative approach to investigate the dynamic process that begins with smoking initiation, proceeds through dependency/smoking persistence, continues with lung cancer development and ends with progression to disseminated disease or response to therapy and survival. The study allows the integration of data from multiple sources in the same subjects (risk factors, germline variation, genomic alterations in tumors, and clinical endpoints to tackle the disease etiology from different angles. Before beginning the study, we conducted a phone survey and pilot investigations to identify the best approach to ensure an acceptable participation in the study from cases and controls. Between 2002 and 2005, we enrolled 2101 incident primary lung cancer cases and 2120 population controls, with 86.6% and 72.4% participation rate, respectively, from a catchment area including 216 municipalities in the Lombardy region of Italy. Lung cancer cases were enrolled in 13 hospitals and population controls were randomly sampled from the area to match the cases by age, gender and residence. Detailed epidemiological information and biospecimens were collected from each participant, and clinical data and tissue specimens from the cases. Collection of follow-up data on treatment and survival is ongoing. Discussion EAGLE is a new population-based case-control study that explores the full spectrum of lung cancer etiology, from smoking addiction to lung cancer outcome, through

  10. A cross-sectional case control study on genetic damage in individuals residing in the vicinity of a mobile phone base station.

    Science.gov (United States)

    Gandhi, Gursatej; Kaur, Gurpreet; Nisar, Uzma

    2015-01-01

    Mobile phone base stations facilitate good communication, but the continuously emitting radiations from these stations have raised health concerns. Hence in this study, genetic damage using the single cell gel electrophoresis (comet) assay was assessed in peripheral blood leukocytes of individuals residing in the vicinity of a mobile phone base station and comparing it to that in healthy controls. The power density in the area within 300 m from the base station exceeded the permissive limits and was significantly (p = 0.000) higher compared to the area from where control samples were collected. The study participants comprised 63 persons with residences near a mobile phone tower, and 28 healthy controls matched for gender, age, alcohol drinking and occupational sub-groups. Genetic damage parameters of DNA migration length, damage frequency (DF) and damage index were significantly (p = 0.000) elevated in the sample group compared to respective values in healthy controls. The female residents (n = 25) of the sample group had significantly (p = 0.004) elevated DF than the male residents (n = 38). The linear regression analysis further revealed daily mobile phone usage, location of residence and power density as significant predictors of genetic damage. The genetic damage evident in the participants of this study needs to be addressed against future disease-risk, which in addition to neurodegenerative disorders, may lead to cancer.

  11. The Cervicovaginal Microbiota in Women Notified for Chlamydia trachomatis Infection: A Case-Control Study at the Sexually Transmitted Infection Outpatient Clinic in Amsterdam, The Netherlands

    NARCIS (Netherlands)

    van der Veer, Charlotte; Bruisten, Sylvia M.; van der Helm, Jannie J.; de Vries, Henry J. C.; van Houdt, Robin

    2017-01-01

    Background. Increasing evidence suggests that the cervicovaginal microbiota (CVM) plays an important role in acquiring sexually transmitted infections (STIs). Here we study the CVM in a population of women notified by a sex partner for Chlamydia trachomatis infection. Methods. We included 98 women

  12. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study.

    LENUS (Irish Health Repository)

    Johnson, Nichola

    2014-05-26

    We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.

  13. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

    NARCIS (Netherlands)

    Johnson, N. (Nichola); F. Dudbridge (Frank); N. Orr (Nick); L.J. Gibson (Lorna); M. Jones (Michael); M. Schoemaker (Minouk); Folkerd, E.J. (Elizabeth J.); Haynes, B.P. (Ben P.); J.L. Hopper (John); M.C. Southey (Melissa); Dite, G.S. (Gillian S.); Apicella, C. (Carmel); M.K. Schmidt (Marjanka); A. Broeks (Annegien); L.J. van 't Veer (Laura); F. Atsma (Femke); K.R. Muir (K.); A. Lophatananon (Artitaya); P.A. Fasching (Peter); M.W. Beckmann (Matthias); A.B. Ekici (Arif); S.P. Renner (S.); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); B. Burwinkel (Barbara); Marme, F. (Frederik); A. Schneeweiss (Andreas); C. Sohn (Christof); P. Guénel (Pascal); T. Truong (Thérèse); Cordina, E. (Emilie); F. Menegaux (Florence); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); H. Flyger (Henrik); R.L. Milne (Roger); M.P. Zamora (Pilar); J.I. Arias Pérez (José Ignacio); J. Benítez (Javier); L. Bernstein (Leslie); H. Anton-Culver (Hoda); A. Ziogas (Argyrios); Clarke Dur, C. (Christina); Brenner, H. (Hermann); H. Mul̈ler (Heiko); Arndt, V. (Volker); A.K. Dieffenbach (Aida Karina); A. Meindl (Alfons); J. Heil (Joerg); C.R. Bartram (Claus); R.K. Schmutzler (Rita); H. Brauch (Hiltrud); C. Justenhoven (Christina); Y-D. Ko (Yon-Dschun); H. Nevanlinna (Heli); Muranen, T.A. (Taru A.); K. Aittomäki (Kristiina); C. Blomqvist (Carl); K. Matsuo (Keitaro); Dörk, T. (Thilo); N.V. Bogdanova (Natalia); Antonenkova, N.N. (Natalia N.); A. Lindblom (Annika); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); G. Chenevix-Trench (Georgia); J. Beesley (Jonathan); A.H. Wu (Anna); D. Van Den Berg (David); C.-C. Tseng (Chiu-Chen); Lambrechts, D. (Diether); D. Smeets (Dominiek); P. Neven (Patrick); H. Wildiers (Hans); J. Chang-Claude (Jenny); Rudolph, A. (Anja); Nickels, S. (Stefan); D. Flesch-Janys (Dieter); P. Radice (Paolo); P. Peterlongo (Paolo); B. Bonnani (Bernardo); V. Pensotti (Valeria); Couch, F.J. (Fergus J.); J.E. Olson (Janet); Wang, X. (Xianshu); Fredericksen, Z. (Zachary); V.S. Pankratz (Shane); Giles, G.G. (Graham G.); G. Severi (Gianluca); Baglietto, L. (Laura); C.A. Haiman (Christopher); J. Simard (Jacques); M.S. Goldberg (Mark); Labrèche, F. (France); M. Dumont (Martine); Soucy, P. (Penny); S.-H. Teo (Soo-Hwang); C.H. Yip (Cheng Har); S.-Y. Phuah (Sze-Yee); Cornes, B.K. (Belinda K.); Kristensen, V.N. (Vessela N.); G. Grenaker Alnæs (Grethe); A.-L. Borresen-Dale (Anne-Lise); W. Zheng (Wei); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); Grip, M. (Mervi); I.L. Andrulis (Irene); J.A. Knight (Julia); Glendon, G. (Gord); A.-M. Mulligan (Anna-Marie); P. Devillee (Peter); J.D. Figueroa (Jonine); S.J. Chanock (Stephen); J. Lissowska (Jolanta); M.E. Sherman (Mark); P. Hall (Per); N. Schoof (Nils); M.J. Hooning (Maartje); A. Hollestelle (Antoinette); R.A. Oldenburg (Rogier); M.M.A. Tilanus-Linthorst (Madeleine); Liu, J. (Jianjun); A. Cox (Angela); I.W. Brock (Ian); M.W.R. Reed (Malcolm); S.S. Cross (Simon); W.J. Blot (William); L.B. Signorello (Lisa B.); P.D.P. Pharoah (Paul); A.M. Dunning (Alison); Shah, M. (Mitul); D. Kang (Daehee); Noh, D.-Y. (Dong-Young); Park, S.K. (Sue K.); Choi, J.-Y. (Ji-Yeob); Hartman, M. (Mikael); X. Miao; Lim, W.Y. (Wei Yen); A. Tang (Anthony); U. Hamann (Ute); A. Försti (Asta); T. Rud̈iger (Thomas); H.U. Ulmer (Hans); A. Jakubowska (Anna); J. Lubinski (Jan); Jaworska-Bieniek, K. (Katarzyna); Durda, K. (Katarzyna); Sangrajrang, S. (Suleeporn); Gaborieau, V. (Valerie); P. Brennan (Paul); McKay, J. (James); S. Slager (Susan); A.E. Toland (Amanda E.); C. Vachon (Celine); Yannoukakos, D. (Drakoulis); C.-Y. Shen (Chen-Yang); J-C. Yu (Jyh-Cherng); Huang, C.-S. (Chiun-Sheng); M.-F. Hou (Ming-Feng); A. González-Neira (Anna); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); C. Luccarini (Craig); J. Dennis (Joe); K. Michailidou (Kyriaki); M.K. Bolla (Manjeet K.); J. Wang (Jinxia); D.F. Easton (Douglas); M. García-Closas (Montserrat); M. Dowsett (Mitch); A. Ashworth (Alan); A.J. Swerdlow (Anthony ); J. Peto (Julian); I. dos Santos Silva (Isabel); O. Fletcher (Olivia)

    2014-01-01

    textabstractINTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50

  14. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: A case-control study

    NARCIS (Netherlands)

    N. Johnson (Nichola); F. Dudbridge (Frank); N. Orr (Nick); L.J. Gibson (Lorna); M. Jones (Michael); M. Schoemaker (Minouk); Folkerd, E.J. (Elizabeth J.); Haynes, B.P. (Ben P.); J.L. Hopper (John); M.C. Southey (Melissa); G.S. Dite (Gillian); C. Apicella (Carmel); M.K. Schmidt (Marjanka); A. Broeks (Annegien); L.J. van 't Veer (Laura); F. Atsma (Femke); K.R. Muir (K.); A. Lophatananon (Artitaya); P.A. Fasching (Peter); M.W. Beckmann (Matthias); A.B. Ekici (Arif); S.P. Renner (S.); E.J. Sawyer (Elinor); I.P. Tomlinson (Ian); M. Kerin (Michael); N. Miller (Nicola); B. Burwinkel (Barbara); F. Marme (Federick); A. Schneeweiss (Andreas); C. Sohn (Christof); P. Guénel (Pascal); T. Truong (Thérèse); Cordina, E. (Emilie); F. Menegaux (Florence); S.E. Bojesen (Stig); B.G. Nordestgaard (Børge); H. Flyger (Henrik); R.L. Milne (Roger); M.P. Zamora (Pilar); J.I.A. Perez (Jose Ignacio Arias); J. Benítez (Javier); L. Bernstein (Leslie); H. Anton-Culver (Hoda); A. Ziogas (Argyrios); C.C. Dur (Christina Clarke); H. Brenner (Hermann); H. Mul̈ler (Heiko); V. Arndt (Volker); A.K. Dieffenbach (Aida Karina); A. Meindl (Alfons); J. Heil (Joerg); C.R. Bartram (Claus); R.K. Schmutzler (Rita); H. Brauch (Hiltrud); C. Justenhoven (Christina); Y-D. Ko (Yon-Dschun); H. Nevanlinna (Heli); T.A. Muranen (Taru); K. Aittomäki (Kristiina); C. Blomqvist (Carl); K. Matsuo (Keitaro); T. Dörk (Thilo); Bogdanova, N.V. (Natalia V.); N.N. Antonenkova (Natalia); A. Lindblom (Annika); A. Mannermaa (Arto); V. Kataja (Vesa); V-M. Kosma (Veli-Matti); J.M. Hartikainen (J.); G. Chenevix-Trench (Georgia); J. Beesley (Jonathan); A.H. Wu (Anna); D. Van Den Berg (David); C.-C. Tseng (Chiu-Chen); Lambrechts, D. (Diether); D. Smeets (Dominiek); P. Neven (Patrick); H. Wildiers (Hans); J. Chang-Claude (Jenny); A. Rudolph (Anja); S. Nickels (Stefan); D. Flesch-Janys (Dieter); P. Radice (Paolo); P. Peterlongo (Paolo); B. Bonnani (Bernardo); V. Pensotti (Valeria); F.J. Couch (Fergus); Olson, J.E. (Janet E.); X. Wang (X.); Fredericksen, Z. (Zachary); V.S. Pankratz (Shane); Giles, G.G. (Graham G.); G. Severi (Gianluca); Baglietto, L. (Laura); C.A. Haiman (Christopher A.); J. Simard (Jacques); M.S. Goldberg (Mark); F. Labrèche (France); M. Dumont (Martine); Soucy, P. (Penny); S.-H. Teo (Soo-Hwang); C.H. Yip (Cheng Har); S.-Y. Phuah (Sze-Yee); Cornes, B.K. (Belinda K.); V. Kristensen (Vessela); Alnæs, G.G. (Grethe Grenaker); A.-L. Borresen-Dale (Anne-Lise); W. Zheng (Wei); R. Winqvist (Robert); K. Pykäs (Katri); A. Jukkola-Vuorinen (Arja); M. Grip (Mervi); I.L. Andrulis (Irene); J.A. Knight (Julia); G. Glendon (Gord); A.-M. Mulligan (Anna-Marie); P. Devillee (Peter); J.D. Figueroa (Jonine); Chanock, S.J. (Stephen J.); J. Lissowska (Jolanta); M.E. Sherman (Mark); P. Hall (Per); N. Schoof (Nils); M.J. Hooning (Maartje); A. Hollestelle (Antoinette); R.A. Oldenburg (Rogier); M.M.A. Tilanus-Linthorst (Madeleine); Liu, J. (Jianjun); A. Cox (Angela); I.W. Brock (Ian); M.W.R. Reed (Malcolm); S.S. Cross (Simon); W.J. Blot (William); L.B. Signorello (Lisa B.); P.D.P. Pharoah (Paul); A.M. Dunning (Alison); M. Shah (Mitul); D. Kang (Daehee); D-Y. Noh (Dong-Young); S.K. Park (Sue K.); J.-Y. Choi (Ji-Yeob); J.M. Hartman (Joost); X. Miao; Lim, W.Y. (Wei Yen); A. Tang (Anthony); U. Hamann (Ute); A. Försti (Asta); T. Rud̈iger (Thomas); H.U. Ulmer (Hans); A. Jakubowska (Anna); J. Lubinski (Jan); Jaworska-Bieniek, K. (Katarzyna); Durda, K. (Katarzyna); S. Sangrajrang (Suleeporn); Gaborieau, V. (Valerie); P. Brennan (Paul); J.D. McKay (James); S. Slager (Susan); A.E. Toland (Amanda); Vachon, C. (Celine); D. Yannoukakos (Drakoulis); C.-Y. Shen (Chen-Yang); J-C. Yu (Jyh-Cherng); Huang, C.-S. (Chiun-Sheng); M.-F. Hou (Ming-Feng); A. González-Neira (Anna); D.C. Tessier (Daniel C.); D. Vincent (Daniel); F. Bacot (Francois); C. Luccarini (Craig); J. Dennis (Joe); K. Michailidou (Kyriaki); Bolla, M.K. (Manjeet K.); J. Wang (Jinxia); D.F. Easton (Douglas F.); M. García-Closas (Montserrat); M. Dowsett (Mitch); A. Ashworth (Alan); A.J. Swerdlow (Anthony ); J. Peto (Julian); I. dos Santos Silva (Isabel); O. Fletcher (Olivia)

    2014-01-01

    textabstractIntroduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50

  15. Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

    OpenAIRE

    Johnson, Nichola; Dudbridge, Frank; Orr, Nick; Gibson, Lorna; Jones, Michael E; Schoemaker, Minouk J; Folkerd, Elizabeth J; Haynes, Ben P; Hopper, John L; Southey, Melissa C; Dite, Gillian S; Apicella, Carmel; Schmidt, Marjanka K; Broeks, Annegien; Van?t Veer, Laura J

    2014-01-01

    Abstract Introduction We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years. Methods We further investigated the association of rs10235235 with b...

  16. Molecular genetic variations in vitamin D receptor gene with risk of osteoporosis in postmenopausal women

    International Nuclear Information System (INIS)

    Zahid, S.; Tahir, M.; Ahmed, S.

    2017-01-01

    To investigate the association of Vitamin D receptor (VDR) gene polymorphisms and development of osteoporosis. Methodology: This case-control study was conducted at Sir Ganga Hospital and Sheikh Zayed Hospital, Lahore, Pakistan from January 2015 to August 2015. A total of 136 postmenopausal women between 46-75 years of age were included in the study while women with serious internal disease and premature (surgical) menopause before the age of 45 years were excluded. Genotyping of VDR ApaI, TaqI and BsmI loci was done using polymerase chain reaction-restriction fragment length polymorphism. Levels of ionized calcium, C-reactive protein, alkaline phosphatase were measured and body mass index was calculated. Statistical analysis was done by using SPSS version 16.0. Results: Percentage of AA genotype was higher (28%) as compared to controls (16.6%). The postmenopausal cases showed 54% TT, 42%Tt and 4% tt genotype. The Bb genotype (42.6 %) was most frequent in both cases and controls. Postmenopausal cases and controls showed non-significant difference in alkaline phosphatase, C-reactive protein and ionized calcium levels. Conclusions: Findings explained the earlier inconsistent association results and no particular genetic variation in Vitamin D receptor gene had pronounced effect in predisposition to osteoporosis. (author)

  17. Association of proteinuria threshold in pre-eclampsia with maternal and perinatal outcomes: a nested case control cohort of high risk women.

    Directory of Open Access Journals (Sweden)

    Kate Bramham

    Full Text Available To evaluate occurrence of adverse maternal and perinatal outcomes with different thresholds of proteinuria (300-499 mg and ≥500 mg/24 hours in pre-eclamptic women, comparing outcomes against women with chronic and gestational hypertension.Secondary analysis of the Vitamins in Pre-Eclampsia Trial.25 UK hospitals in ten geographical areas.946 women with pre-existing risk factors for pre-eclampsia.Women with pre-eclampsia and proteinuria 300-499 mg/24 h (PE300, referent group, n=60 or proteinuria ≥500 mg/24 h (PE500, n=161 were compared with two groups of non-proteinuric women with chronic hypertension (CHT, n=615 or gestational hypertension (GH, n=110.MATERNAL: progression to severe hypertension. Perinatal: small for gestational age (SGA <5(th centile, gestation at delivery.Severe hypertension occurred more frequently in PE500 (35% and PE300 (27% than CHT (5.9%; P≤0.01 and GH (10%; p≤0.001. Gestation at delivery was earlier in PE500 (33.2 w than PE300 (37.3 w; P≤0.001, and later in CHT (38.3 w; P≤0.05 and GH (39.1 w; P≤0.001. SGA infants were more frequent in PE300 (32% than in CHT (13.3%; P≤0.001 and GH (16.5%; P≤0.05. Women in PE500 were more likely to have a caesarean section than PE300 (78% vs. 48%; P≤0.001, and to receive magnesium sulphate (17% vs. 1.7%, P≤0.05.Women with PE300 have complication rates above those of women managed as out-patients (GH and CHT, meriting closer surveillance and confirming 300 mg/d as an appropriate threshold for determining in-patient management. Adverse perinatal outcomes are higher still in women with PE500.

  18. Genetic Variations of the COL4A1 Gene and Intracerebral Hemorrhage Risk: A Case-Control Study in a Chinese Han Population.

    Science.gov (United States)

    Lin, Sen; Xia, Chao; He, Sha; Yang, Jie; Li, Hao; Zheng, Jun; Liu, Ming; You, Chao

    2018-04-01

    To investigate the association between single nucleotide polymorphisms or haplotypes of the COL4A1 gene and the risk of intracerebral hemorrhage (ICH). We conducted a case-control study that included 181 patients from the Chinese Han population with hypertensive ICH and 197 hypertension patients without ICH. Genomic DNA was extracted by DNA extraction kit, and the 6 single nucleotide polymorphism genotypes of the COL4A1 gene were detected with a MassARRAY Analyzer. Unphased 3.1.4 and SPSS 19.0 were used to analyze the association between alleles, genotypes, and haplotypes of the COL4A1 gene and the risk of ICH. Compared with the control group, patients in the ICH group were significantly younger. There were no differences in gender, diabetes, hyperlipidemia, current smoking, and alcohol consumption between the 2 groups. Our association analysis showed that the rs3742207 A, rs11069830 A, and rs679505 A alleles were association factors of the risks of ICH; rs11069830 AA, rs544012 AC, and rs679505 AA genotypes were association factors of the risk of ICH; AA haplotype (rs3742207-rs11069830) was an association factor of the risk of ICH. After adjusting age and gender by multivariate logistic regression, the rs544012 AC and rs679505 AA genotypes were independently associated with the risk of ICH. Our study showed that the rs544012 AC and rs679505 AA genotypes were independently associated with the risk of ICH in the Chinese Han population and that the AA haplotype (rs3742207-rs11069830) in the COL4A1 gene may be related to the risk of ICH in the Chinese Han population; these conclusions need further confirmation in future studies with larger samples. Copyright © 2018. Published by Elsevier Inc.

  19. SULT1A1 genetic polymorphisms and the association between smoking and oral cancer in a case-control study in Brazil

    International Nuclear Information System (INIS)

    Santos, Sabrina S.; Koifman, Rosalina J.; Ferreira, Rafaela M.; Diniz, Lilian F.; Brennan, Paul; Boffetta, Paolo; Koifman, Sergio

    2012-01-01

    Introduction: Oral cancer is a public health problem worldwide, being tobacco and alcohol consumption their main risk factors. Sulfotransferase (SULT) 1A1 (encoded by SULT1A1) is involved in procarcinogens metabolism, such as polycyclic aromatic hydrocarbons (PAHs) present in tobacco smoke. Objective: The aim of this study was to explore the magnitude of association between SULT1A1 gene Arg 213 His polymorphism and oral cancer, and to explore the interaction between such polymorphism and smoking. Methods: A hospital-based case-control study was carried out in Rio de Janeiro, Brazil, during 1999–2002. Epidemiological data and biological samples were obtained from 202 oral cancer patients and 196 sex and age-frequency matched controls without cancer antecedents. Results: No association was observed between Arg 213 His SULT1A1 polymorphism and oral cancer risk in overall analysis (OR = 1.06, 95% CI = 0.71–1.57). The magnitude of association between cigarette smoking and oral cancer was higher in individuals with a SULT1A1 * 1 isoform (wild type, genotype Arg/Arg) (OR = 10.19, 95% CI = 3.90–26.61) than in those with at least one SULT1A1 * 2 allele (genotypes Arg/His + His/His) (OR = 4.50, 95% CI =2.09–9.69). Conclusion: Our results suggest that Arg 213 His SULT1A1 polymorphism may modulate the association between smoking and oral cancer. However, this association needs to be replicated in other studies: due to modest number of cases and controls, the role of chance in the observed association cannot be ruled out.

  20. SULT1A1 genetic polymorphisms and the association between smoking and oral cancer in a case-control study in Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Santos, Sabrina S.; Koifman, Rosalina J.; Ferreira, Rafaela M.; Diniz, Lilian F. [National School of Public Health/FIOCRUZ, Rio de Janeiro (Brazil); Brennan, Paul [International Agency of Research on Cancer (IARC/WHO), Lyon (France); Boffetta, Paolo [Institute for Translational Epidemiology and Tisch Cancer Institute, Mount Sinai School of Medicine, New York, NY (United States); Koifman, Sergio, E-mail: koifman@ensp.fiocruz.br [National School of Public Health/FIOCRUZ, Rio de Janeiro (Brazil)

    2012-12-18

    Introduction: Oral cancer is a public health problem worldwide, being tobacco and alcohol consumption their main risk factors. Sulfotransferase (SULT) 1A1 (encoded by SULT1A1) is involved in procarcinogens metabolism, such as polycyclic aromatic hydrocarbons (PAHs) present in tobacco smoke. Objective: The aim of this study was to explore the magnitude of association between SULT1A1 gene Arg{sup 213}His polymorphism and oral cancer, and to explore the interaction between such polymorphism and smoking. Methods: A hospital-based case-control study was carried out in Rio de Janeiro, Brazil, during 1999–2002. Epidemiological data and biological samples were obtained from 202 oral cancer patients and 196 sex and age-frequency matched controls without cancer antecedents. Results: No association was observed between Arg{sup 213}His SULT1A1 polymorphism and oral cancer risk in overall analysis (OR = 1.06, 95% CI = 0.71–1.57). The magnitude of association between cigarette smoking and oral cancer was higher in individuals with a SULT1A1{sup *}1 isoform (wild type, genotype Arg/Arg) (OR = 10.19, 95% CI = 3.90–26.61) than in those with at least one SULT1A1{sup *}2 allele (genotypes Arg/His + His/His) (OR = 4.50, 95% CI =2.09–9.69). Conclusion: Our results suggest that Arg{sup 213}His SULT1A1 polymorphism may modulate the association between smoking and oral cancer. However, this association needs to be replicated in other studies: due to modest number of cases and controls, the role of chance in the observed association cannot be ruled out.

  1. Genetic predisposition to fracture non-union: a case control study of a preliminary single nucleotide polymorphisms analysis of the BMP pathway

    Directory of Open Access Journals (Sweden)

    Giannoudis Peter V

    2011-02-01

    Full Text Available Abstract Background Despite the known multi-factorial nature of atrophic fracture non-unions, a possible genetic predisposition for the development of this complication after long bone fractures remains unknown. This pilot study aimed to address this issue by performing a preliminary SNP analysis of specific genes known to regulate fracture healing. Methods A total of fifteen SNPs within four genes of the Bone Morphogenetic Protein (BMP pathway (BMP-2, BMP-7, NOGGIN and SMAD6 were examined, in 109 randomly selected patients with long bone fractures as a result of motor vehicle accident, fall or direct blow. There were sixty-two patients with atrophic non-union and forty-seven patients (54 fractures with uneventful fracture union. Overall SNPs frequencies were computed with respect to patient's age, gender, smoking habits, fracture-associated parameters and the use of nonsteroidal anti-inflammatory drugs (NSAIDs, and tested for their association to the impaired bone healing process, using binary logistic regression (STATA 11.1; StataCorp, Texas USA. Results Statistical analysis revealed age to be an important covariate in the development of atrophic non-union (p = 0.01, OR 1.05 [per year], and two specific genotypes (G/G genotype of the rs1372857 SNP, located on NOGGIN and T/T genotype of the rs2053423 SNP, located on SMAD6 to be associated with a greater risk of fracture non-union (p = 0.02, OR 4.56 and p = 0.04, OR 10.27, respectively, after adjustment for age. Conclusions This is the first clinical study to investigate the potential existence of genetic susceptibility to fracture non-union. Even though no concrete conclusions can be obtained from this pilot study, our results indicate the existence of a potential genetically predetermined impairment within the BMP signalling cascade, initiated after a fracture and when combined with other risk factors could synergistically increase the susceptibility of a patient to develop non-union. Further

  2. Breast Cancer and Risk Factors Among African-American Women Aged 20-54: A Case-Control Study According to Estrogen Receptor Status

    National Research Council Canada - National Science Library

    Zhu, Kangmin

    1999-01-01

    ...) status among African-American women. During the period of the project, we established collaborations with the Tennessee Cancer Reporting System, hospitals in the study areas, and basic science researchers...

  3. Placental peptides metabolism and maternal factors as predictors of risk of gestational diabetes in pregnant women. A case-control study.

    Science.gov (United States)

    Ngala, Robert Amadu; Fondjo, Linda Ahenkorah; Gmagna, Peter; Ghartey, Frank Naku; Awe, Martin Akilla

    2017-01-01

    Gestational diabetes is a risk factor for perinatal complications; include shoulder dystocia, birth injuries such as bone fractures and nerve palsies. It is associated with later development of type 2 diabetes, the risk of macrosomia and other long-term health effects of infants born to diabetic mothers. The study assesses placental peptides and maternal factors as potential predictors of gestational diabetes among pregnant women. A total of 200 pregnant women were recruited for the study, 150 pregnant women without pre gestational diabetes including 50 women with low risk factors of diabetes as controls and 50 other pregnant women with pregestational diabetes as control. Fasting blood glucose and the lipid profile were determined by enzymatic methods using Envoy® 500 reagents (Vital Diagnostics, USA). Glycated haemoglobin was assessed using the Cation Exchange resin method. Leptin and the Human Placenta Lactogen were assayed using the Sandwich-ELISA technique. Beta chorionic gonadotrophin, insulin, progesterone and estradiol were determined using chemilumiscence imunoassay technique on MAGLUMI 600 analyzer. Anthropometry, including BMI and blood pressure were also measured. Fasting plasma glucose (FBG), insulin, insulin resistance, glycated haemoglobin and Human Placenta Lactogen(HPL)were significantly (p0.05) in estradiol, insulin, insulin resistance and HPL between the pregnant women who developed gestational diabetes and those who did not. Leptin, progesterone and FBG were significantly increased in those who developed GDM. The risk of developing gestational diabetes increased with overweight (OR = 1.76, P = 0.370) and family history of diabetes (OR = 2.18, P = 0.282). Leptin, progesterone, estradiol estimated in this study were increased in the gestational diabetes mellitus women and fairly predicted gestational diabetes in the non-diabetics pregnant women. Obesity, aging and family history of diabetes were strongly predictive of gestational diabetes.

  4. Balance, Falls-Related Self-Efficacy, and Psychological Factors amongst Older Women with Chronic Low Back Pain: A Preliminary Case-Control Study

    OpenAIRE

    Champagne, Annick; Prince, François; Bouffard, Vicky; Lafond, Danik

    2012-01-01

    Objective. To investigate balance functions in older women and evaluate the association of the fear-avoidance beliefs model (FABM) factors with balance and mobility performance. Participants. Fifteen older women with CLBP was compared with age-matched pain-free controls (n = 15). Main Outcome Measures. Pain intensity, falls-related self-efficacy and intrinsic constructs in the FABM were evaluated. Postural steadiness (centre of pressure (COP)) and mobility functions were assessed. Linear rela...

  5. The role of brain-derived neurotrophic factor (BDNF) Val66Met genetic polymorphism in bipolar disorder: a case-control study, comorbidities, and meta-analysis of 16,786 subjects.

    Science.gov (United States)

    González-Castro, Thelma Beatriz; Nicolini, Humberto; Lanzagorta, Nuria; López-Narváez, Lilia; Genis, Alma; Pool García, Sherezada; Tovilla-Zárate, Carlos Alfonso

    2015-02-01

    The aim of this study was to evaluate the association of Val66Met brain-derived neurotrophic factor (BDNF) polymorphism with bipolar disorder in (i) a meta-analysis and (ii) a case-control study in a Mexican population. We also investigated the possible association of this polymorphism with clinical features. We performed a keyword search of the PubMed and Web of Science databases. A total of 22 studies that have investigated the association of Val66Met (rs6265) with bipolar disorder were selected for inclusion and combined with random effects meta-analysis, using allelic, additive, dominant, and recessive models. Finally, the single nucleotide polymorphism (rs6265) Val66Met in the BDNF gene was genotyped and compared between 139 patients with bipolar disorder and 141 healthy volunteers in a Mexican population. The pooled results from the meta-analysis (9,349 cases and 7,437 controls) did not show a significant association in any of the models. The same results were obtained in our case-control study when analyzing the distribution of the genotypic frequencies of the Val66Met polymorphism in patients with bipolar disorder. However, when we analyzed the association between rs6265 and lifetime history of suicidal behavior, we found an association between genotype Val-Val and suicide attempt (p = 0.02). Although the present study has some limitations, the results indicate a lack of association between the Val66Met polymorphism and bipolar disorder. However, in our case-control study in a Mexican population, the Val66Met polymorphism was associated with suicidal behavior in patients with bipolar disorder. Nevertheless, it is important to consider potential interactions of the BDNF gene, the environment, and different inheritance patterns, when carrying out future genetic studies with larger samples. © 2014 The Authors. Bipolar Disorders Published by John Wiley & Sons Ltd.

  6. Dietary and other risk factors in women having fibrocystic breast conditions with and without concurrent breast cancer: a nested case-control study in Shanghai, China.

    Science.gov (United States)

    Li, Wenjin; Ray, Roberta M; Lampe, Johanna W; Lin, Ming-Gang; Gao, Dao Li; Wu, Chunyuan; Nelson, Zakia C; Fitzgibbons, E Dawn; Horner, Neilann; Hu, Yong Wei; Shannon, Jackilen; Satia, Jessie A; Patterson, Ruth E; Stalsberg, Helge; Thomas, David B

    2005-07-20

    Risk of breast cancer is increased in women with proliferative benign breast conditions. Most of these conditions, however, do not progress to breast cancer. The purpose of our study was to identify factors possibly associated with this progression. Women with proliferative fibrocystic breast conditions alone (214), and women with proliferative fibrocystic breast conditions and concurrent breast cancer (130), were compared to each other, and each of these groups of women were also compared to 1,070 controls; and 176 women with non-proliferative benign breast conditions alone, and 155 also with breast cancer, were similarly compared. All study subjects were selected from a cohort of women enrolled in a trial of breast self-examination in Shanghai. Women were interviewed to ascertain information on suspected risk factors for breast cancer and dietary habits. Conditional logistic regression was used to estimate adjusted odds ratios (OR) and 95% confidence intervals (CI). Increased risks of both proliferative fibrocystic breast conditions alone, and with breast cancer, were associated with low parity, a prior benign breast lump and breast cancer in a first-degree relative. Decreasing trends in the risk of both conditions with increasing intake of fruits and vegetables were observed. No factors were significantly associated with risk of breast cancer relative to risk of proliferative changes. Similar, but in some instances weaker, associations were observed for non-proliferative fibrocystic conditions with and without breast cancer. The possible risk or protective factors that were observed in our study most likely alter the risk of breast cancer at an early stage in the carcinogenic process, and probably do not alter risk of progression from proliferative fibrocystic breast conditions to breast cancer. Copyright 2005 Wiley-Liss, Inc.

  7. A genetic variant in miR-196a2 increased digestive system cancer risks: a meta-analysis of 15 case-control studies.

    Directory of Open Access Journals (Sweden)

    Jing Guo

    Full Text Available BACKGROUND: MicroRNAs (miRNAs negatively regulate the gene expression and act as tumor suppressors or oncogenes in oncogenesis. The association between single nucleotide polymorphism (SNP in miR-196a2 rs11614913 and the susceptibility of digestive system cancers was inconsistent in previous studies. METHODOLOGY/PRINCIPAL FINDINGS: An updated meta-analysis based on 15 independent case-control studies consisting of 4999 cancer patients and 7606 controls was performed to address this association. It was found that miR-196a2 polymorphism significantly elevated the risks of digestive system cancers (CT vs. TT, OR = 1.25, 95% CI = 1.07-1.45; CC vs. TT, OR = 1.38, 95% CI = 1.13-1.67; CC/CT vs. TT, OR = 1.29, 95% CI = 1.10-1.50; CC vs. CT/TT, OR = 1.14, 95% CI = 1.01-1.30; C vs. T, OR = 1.15, 95% CI = 1.05-1.26. We also found that variant in miR-196a2 increased the susceptibility of colorectal cancer (CRC (CT vs. TT, OR = 1.23, 95% CI = 1.04-1.44; CC vs. TT, OR = 1.32, 95% CI = 1.08-1.61; CC/CT vs. TT, OR = 1.25, 95% CI = 1.07-1.46; C vs. T, OR = 1.15, 95% CI = 1.05-1.28, while the association in recessive model (CC vs. CT/TT, OR = 1.16, 95% CI = 0.98-1.38 showed a marginal significance. Additionally, significant association between miR-196a2 polymorphism and increased risk of hepatocellular cancer (HCC was detected. By stratifying tumors on the basis of site of origin, source of controls, ethnicity and allele frequency in controls, elevated cancer risks were observed. CONCLUSION/SIGNIFICANCE: Our findings suggest the significant association between miR-196a2 polymorphism and increased susceptibility of digestive system cancers, especially of CRC, HCC and Asians. Besides, C allele may contribute to increased digestive cancer risks.

  8. Association between H-RAS T81C genetic polymorphism and gastrointestinal cancer risk: A population based case-control study in China

    Directory of Open Access Journals (Sweden)

    Li Qilong

    2008-09-01

    Full Text Available Abstract Background Gastrointestinal cancer, such as gastric, colon and rectal cancer, is a major medical and economic burden worldwide. However, the exact mechanism of gastrointestinal cancer development still remains unclear. RAS genes have been elucidated as major participants in the development and progression of a series of human tumours and the single nucleotide polymorphism at H-RAS cDNA position 81 was demonstrated to contribute to the risks of bladder, oral and thyroid carcinoma. Therefore, we hypothesized that this polymorphisms in H-RAS could influence susceptibility to gastrointestinal cancer as well, and we conducted this study to test the hypothesis in Chinese population. Methods A population based case-control study, including 296 cases with gastrointestinal cancer and 448 healthy controls selected from a Chinese population was conducted. H-RAS T81C polymorphism was genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP assay. Results In the healthy controls, the TT, TC and CC genotypes frequencies of H-RAS T81C polymorphism, were 79.24%, 19.87% and 0.89%, respectively, and the C allele frequency was 10.83%. Compared with TT genotype, the TC genotype was significantly associated with an increased risk of gastric cancer (adjusted OR = 3.67, 95%CI = 2.21–6.08, while the CC genotype showed an increased risk as well (adjusted OR = 3.29, 95%CI = 0.54–19.86, but it was not statistically significant. In contrast, the frequency of TC genotype was not significantly increased in colon cancer and rectal cancer patients. Further analysis was performed by combining TC and CC genotypes compared against TT genotype. As a result, a statistically significant risk with adjusted OR of 3.65 (95%CI, 2.22–6.00 was found in gastric cancer, while no significant association of H-RAS T81C polymorphism with colon cancer and rectal cancer was observed. Conclusion These findings indicate, for the first time, that there

  9. Association between H-RAS T81C genetic polymorphism and gastrointestinal cancer risk: A population based case-control study in China

    International Nuclear Information System (INIS)

    Zhang, Yongjing; Jin, Mingjuan; Liu, Bing; Ma, Xinyuan; Yao, Kaiyan; Li, Qilong; Chen, Kun

    2008-01-01

    Gastrointestinal cancer, such as gastric, colon and rectal cancer, is a major medical and economic burden worldwide. However, the exact mechanism of gastrointestinal cancer development still remains unclear. RAS genes have been elucidated as major participants in the development and progression of a series of human tumours and the single nucleotide polymorphism at H-RAS cDNA position 81 was demonstrated to contribute to the risks of bladder, oral and thyroid carcinoma. Therefore, we hypothesized that this polymorphisms in H-RAS could influence susceptibility to gastrointestinal cancer as well, and we conducted this study to test the hypothesis in Chinese population. A population based case-control study, including 296 cases with gastrointestinal cancer and 448 healthy controls selected from a Chinese population was conducted. H-RAS T81C polymorphism was genotyped by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) assay. In the healthy controls, the TT, TC and CC genotypes frequencies of H-RAS T81C polymorphism, were 79.24%, 19.87% and 0.89%, respectively, and the C allele frequency was 10.83%. Compared with TT genotype, the TC genotype was significantly associated with an increased risk of gastric cancer (adjusted OR = 3.67, 95%CI = 2.21–6.08), while the CC genotype showed an increased risk as well (adjusted OR = 3.29, 95%CI = 0.54–19.86), but it was not statistically significant. In contrast, the frequency of TC genotype was not significantly increased in colon cancer and rectal cancer patients. Further analysis was performed by combining TC and CC genotypes compared against TT genotype. As a result, a statistically significant risk with adjusted OR of 3.65 (95%CI, 2.22–6.00) was found in gastric cancer, while no significant association of H-RAS T81C polymorphism with colon cancer and rectal cancer was observed. These findings indicate, for the first time, that there is an H-RAS T81C polymorphism existing in Chinese population

  10. The role of IREB2 and transforming growth factor beta-1 genetic variants in COPD: a replication case-control study

    LENUS (Irish Health Repository)

    Chappell, Sally L

    2011-02-14

    Abstract Background Genetic factors are known to contribute to COPD susceptibility and these factors are not fully understood. Conflicting results have been reported for many genetic studies of candidate genes based on their role in the disease. Genome-wide association studies in combination with expression profiling have identified a number of new candidates including IREB2. A meta-analysis has implicated transforming growth factor beta-1 (TGFbeta1) as a contributor to disease susceptibility. Methods We have examined previously reported associations in both genes in a collection of 1017 white COPD patients and 912 non-diseased smoking controls. Genotype information was obtained for seven SNPs in the IREB2 gene, and for four SNPs in the TGFbeta1 gene. Allele and genotype frequencies were compared between COPD cases and controls, and odds ratios were calculated. The analysis was adjusted for age, sex, smoking and centre, including interactions of age, sex and smoking with centre. Results Our data replicate the association of IREB2 SNPs in association with COPD for SNP rs2568494, rs2656069 and rs12593229 with respective adjusted p-values of 0.0018, 0.0039 and 0.0053. No significant associations were identified for TGFbeta1. Conclusions These studies have therefore confirmed that the IREB2 locus is a contributor to COPD susceptibility and suggests a new pathway in COPD pathogenesis invoking iron homeostasis.

  11. Plasma carotenoids and the risk of premalignant breast disease in women aged 50 and younger: a nested case-control study.

    Science.gov (United States)

    Cohen, Kevin; Liu, Ying; Luo, Jingqin; Appleton, Catherine M; Colditz, Graham A

    2017-04-01

    To examine the association of plasma carotenoids, micronutrients in fruits, and vegetables, with risk of premalignant breast disease (PBD) in younger women. Blood samples were collected at the Siteman Cancer Center between 2008 and 2012 from 3537 women aged 50 or younger with no history of cancer or PBD. The analysis included 147 participants diagnosed with benign breast disease or breast carcinoma in situ during a 27-month follow-up and 293 controls. Cases and controls were matched on age, race/ethnicity, and date of and fasting status at blood draw. Plasma carotenoids were quantified. We used logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs) and linear regression to assess racial differences in plasma carotenoids. The risk reduction between the highest and lowest tertiles varied by carotenoid, with β-cryptoxanthin having the greatest reduction (OR 0.62; 95% CI, 0.62-1.09; P trend  = 0.056) and total carotenoids the least (OR 0.83; 95% CI, 0.48-1.44; P trend  = 0.12). We observed an inverse association between plasma carotenoids and risk of PBD in obese women (BMI ≥ 30 kg/m 2 ; 61 cases and 115 controls) but not lean women (BMI carotenoids and risk of PBD in younger women, consistent with inverse associations reported for invasive breast cancer. Carotenoids may play a role early in breast cancer development.

  12. Protocol for investigating genetic determinants of posttraumatic stress disorder in women from the Nurses' Health Study II

    Directory of Open Access Journals (Sweden)

    Smoller Jordan W

    2009-05-01

    Full Text Available Abstract Background One in nine American women will meet criteria for the diagnosis of posttraumatic stress disorder (PTSD in their lifetime. Although twin studies suggest genetic influences account for substantial variance in PTSD risk, little progress has been made in identifying variants in specific genes that influence liability to this common, debilitating disorder. Methods and design We are using the unique resource of the Nurses Health Study II, a prospective epidemiologic cohort of 68,518 women, to conduct what promises to be the largest candidate gene association study of PTSD to date. The entire cohort will be screened for trauma exposure and PTSD; 3,000 women will be selected for PTSD diagnostic interviews based on the screening data. Our nested case-control study will genotype1000 women who developed PTSD following a history of trauma exposure; 1000 controls will be selected from women who experienced similar traumas but did not develop PTSD. The primary aim of this study is to detect genetic variants that predict the development of PTSD following trauma. We posit inherited vulnerability to PTSD is mediated by genetic variation in three specific neurobiological systems whose alterations are implicated in PTSD etiology: the hypothalamic-pituitary-adrenal axis, the locus coeruleus/noradrenergic system, and the limbic-frontal neuro-circuitry of fear. The secondary, exploratory aim of this study is to dissect genetic influences on PTSD in the broader genetic and environmental context for the candidate genes that show significant association with PTSD in detection analyses. This will involve: conducting conditional tests to identify the causal genetic variant among multiple correlated signals; testing whether the effect of PTSD genetic risk variants is moderated by age of first trauma, trauma type, and trauma severity; and exploring gene-gene interactions using a novel gene-based statistical approach. Discussion Identification of

  13. Developmental and genetic determinants of leadership role occupancy among women.

    Science.gov (United States)

    Arvey, Richard D; Zhang, Zhen; Avolio, Bruce J; Krueger, Robert F

    2007-05-01

    The genetic and developmental influences on leadership role occupancy were investigated using a sample of 178 fraternal and 214 identical female twins. Two general developmental factors were identified, one involving formal work experiences and the other a family experiences factor hypothesized to influence whether women move into positions of leadership in organizations. Results indicated that 32% of the variance in leadership role occupancy was associated with heritability. The 2 developmental factors also showed significant correlations with leadership role occupancy. However, after genetic factors were partialed out, only the work experience factor was significantly related to leadership role occupancy. Results are discussed in terms of prior life events and experiences that may trigger leadership development and the limitations of this study. 2007 APA, all rights reserved

  14. Combined analysis of six lipoprotein lipase genetic variants on triglycerides, high-density lipoprotein, and ischemic heart disease: cross-sectional, prospective, and case-control studies from the Copenhagen City Heart Study

    DEFF Research Database (Denmark)

    Wittrup, HH; Andersen, RV; Tybjærg-Hansen, A

    2006-01-01

    CONTEXT: Genetic variants in lipoprotein lipase may affect triglycerides, high-density lipoprotein (HDL), and risk of ischemic heart disease (IHD). OBJECTIVE: The objective of this study was to investigate the influence of T(-93)G, G(-53)C, Asp9Asn, Gly188Glu, Asn291Ser, and Ser447Ter lipoprotein...... lipase genotypes on triglycerides, HDL, and IHD. DESIGN: The cross-sectional study involved 9004 adults. The prospective study consisted of 8817 adults developing 1001 IHD events over 23 yr. The case-control study involved 7818 non-IHD individuals vs. cohorts of 915 and 1062 IHD patients, respectively....... SETTING: The study was performed in the Danish general population (the Copenhagen City Heart Study). PARTICIPANTS: IHD was angina pectoris or myocardial infarction. MAIN OUTCOME MEASURES: Triglycerides, HDL, and IHD were the main outcome measures. RESULTS: Cross-sectionally, triglycerides varied...

  15. Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography

    Directory of Open Access Journals (Sweden)

    Fujimoto Kei

    2007-09-01

    Full Text Available Abstract Background Although oxidative stress by accumulation of reactive oxygen species (ROS in diabetes has become evident, it remains unclear what genes, involved in redox balance, would determine susceptibility for development of atherosclerosis in diabetes. This study evaluated the effect of genetic polymorphism of enzymes producing or responsible for reducing ROS on coronary artery calcification in type 2 diabetes (T2D. Methods An index for coronary-arteriosclerosis, coronary artery calcium score (CACS was evaluated in 91 T2D patients using a multi-slice computed tomography. Patients were genotyped for ROS-scavenging enzymes, Glutathione peroxidase-1 (GPx-1, Catalase, Mn-SOD, Cu/Zn-SOD, as well as SNPs of NADPH oxidase as ROS-promoting elements, genes related to onset of T2D (CAPN10, ADRB3, PPAR gamma, FATP4. Age, blood pressure, BMI, HbA1c, lipid and duration of diabetes were evaluated for a multivariate regression analysis. Results CACS with Pro/Leu genotype of the GPx-1 gene was significantly higher than in those with Pro/Pro (744 ± 1,291 vs. 245 ± 399, respectively, p = 0.006. In addition, genotype frequency of Pro/Leu in those with CACS ≥ 1000 was significantly higher than in those with CACS OR = 3.61, CI = 0.97–13.42; p = 0.045 when tested for deviation from Hardy-Weinberg's equilibrium. Multivariate regression analyses revealed that CACS significantly correlated with GPx-1 genotypes and age. Conclusion The presence of Pro197Leu substitution of the GPx-1 gene may play a crucial role in determining genetic susceptibility to coronary-arteriosclerosis in T2D. The mechanism may be associated with a decreased ability to scavenge ROS with the variant GPx-1.

  16. The role of TNF genetic variants and the interaction with cigarette smoking for gastric cancer risk: a nested case-control study

    International Nuclear Information System (INIS)

    Yang, Jae Jeong; Park, Sue K; Ko, Kwang-Pil; Cho, Lisa Y; Shin, Aesun; Gwack, Jin; Chang, Soung-Hoon; Shin, Hai-Rim; Yoo, Keun-Young; Kang, Daehee

    2009-01-01

    The aim of this study was to investigate the role of TNF genetic variants and the combined effect between TNF gene and cigarette smoking in the development of gastric cancer in the Korean population. We selected 84 incident gastric cancer cases and 336 matched controls nested within the Korean Multi-Center Cancer Cohort. Six SNPs on the TNF gene, TNF-α-238 G/A, -308 G/A, -857 C/T, -863 C/A, -1031 T/C, and TNF-β 252 A/G were genotyped. The ORs (95% CIs) were calculated using unconditional logistic regression model to detect each SNP and haplotype-pair effects for gastric cancer. The combined effects between the TNF gene and smoking on gastric cancer risk were also evaluated. Multi dimensionality reduction (MDR) analyses were performed to explore the potential TNF gene-gene interactions. TNF-α-857 C/T containing the T allele was significantly associated with an increased risk of gastric cancer and a linear trend effect was observed in the additive model (OR = 1.6, 95% CI 1.0–2.5 for CT genotype; OR = 2.6, 95% CI 1.0–6.4 for TT genotype). All haplotype-pairs that contained TCT or CCC of TNF-α-1031 T/C, TNF-α-863 C/A, and TNF-α-857 C/T were associated with a significantly higher risk for gastric cancer only among smokers. In the MDR analysis, regardless of smoking status, TNF-α-857 C/T was included in the first list of SNPs with a significant main effect. TNF-α-857 C/T polymorphism may play an independent role in gastric carcinogenesis and the risk for gastric cancer by TNF genetic effect is pronounced by cigarette smoking

  17. Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities - a population-based case-control study.

    Science.gov (United States)

    Paput, László; Bánhidy, Ferenc; Czeizel, Andrew E

    2011-09-01

    To describe the maternal characteristics and birth outcomes of newborn infants affected with isolated ear congenital abnormalities (IECA), mainly isolated anotia/microtia and unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM). Cases with IECA and UMAM were compared with their matched controls and all controls without any defect and malformed controls affected with other defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The mothers of 354 cases with IECA did not show significant difference in age, but their mean birth order was higher while their socio-economic status based on the maternal employment status was lower compared to the figures of their matched controls. There was a male excess among cases with microtia and mainly with UMAM. The evaluation of birth outcomes of newborns affected with IECA indicated intrauterine fetal growth retardation. Newborn infants with isolated microtia had intrauterine growth retardation and the association of this developmental defect localized for a small region of head with the general fetal development raises interesting theoretical question.

  18. Clot lysis time and the risk of myocardial infarction and ischaemic stroke in young women; results from the RATIO case-control study

    NARCIS (Netherlands)

    Siegerink, Bob; Meltzer, Mirjam E.; de Groot, Philip G.; Algra, Ale; Lisman, Ton; Rosendaal, Frits R.

    Reduced overall fibrinolytic capacity increases the risk of myocardial infarction (MI), as demonstrated in studies with predominantly male participants. We determined the influence of altered fibrinolysis on the risk of MI and ischaemic stroke (IS) in young women. The RATIO (Risk of Arterial

  19. Associations of sex hormone-binding globulin and testosterone with diabetes among men and women (the Saku Diabetes study: a case control study

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    Goto Atsushi

    2012-10-01

    Full Text Available Abstract Background Sex hormone-binding globulin (SHBG levels and sex hormones have been implicated in the pathogenesis of type 2 diabetes and cardiovascular diseases. As fatty liver has been suggested to be a major determinant of SHBG levels, we examined whether the associations of SHBG and testosterone with diabetes were independent of fatty liver. Methods We conducted a case–control study that included 300 diabetes cases (215 men and 85 women and 300 matched controls from the Saku cohort study. Diabetes was defined by either fasting plasma glucose levels ≥126 mg/dL, 2-h post-load glucose levels ≥200 mg/dL after a 75 g oral glucose tolerance test, or diabetes diagnosed by physicians. We fitted conditional logistic regression models to examine the associations between SHBG and total testosterone levels with diabetes by sex. To evaluate the impact of fatty liver, we used the fatty liver index (FLI, a validated measure derived from serum triglyceride levels, body mass index (BMI, waist circumference, and γ-glutamyltransferase levels. Results After adjusting for age, family history of diabetes, smoking, physical activity, BMI, and FLI, SHBG levels were inversely associated with diabetes among women (odds ratio [OR] comparing the highest with the lowest quartiles, 0.13 [95% confidence interval {CI}, 0.02–0.96], but not among men. Similar patterns were observed in a subgroup analysis restricted to postmenopausal women"(OR, 0.12 [95% CI, 0.01–1.17]. In contrast, testosterone levels were inversely associated with diabetes among men (OR, 0.45 [95% CI, 0.23–0.89], but not among women. Conclusions Our findings suggest that SHBG in women and testosterone in men may be inversely associated with diabetes.

  20. [Views of Icelandic women towards genetic counseling - and testing of BRCA2 mutations].

    Science.gov (United States)

    Jonsdottir, Thordis; Valdimarsdottir, Heiddis; Tryggvadottir, Laufey; Lund, Sigrun Helga; Thordardottir, Marianna; Magnusson, Magnus Karl; Valdimarsdottir, Unnur

    2018-01-01

    Introduction The aim of this study was to explore the attitudes of Icelandic women towards existing genetic information, genetic counseling and genetic testing for BRCA mutations which dramatically increase risk for aggressive cancers. Materials and methods Women attending the cancer prevention clinic in Reykjavik, capital of Iceland, from October 12th until November 20th 2015 received an invitation to participate. Participation involved answering a short online questionnaire about background, family history of cancer as well as attitudes towards genetic counseling, BRCA testing and preventive use of such information. Descriptive statistics and chi-square tests were used to describe differences in attitudes towards those questions between subgroups of women. Results 1129 women (69% response rate) answered the questionnaire. Mean age was 47 years (span 21-76 years). Around half (47%) had heard fairly much about the mutations. Independent of family history of cancer, the majority of women were positive towards receiving genetic counseling (79%) and to undergo genetic testing (83%) for BRCA mutation with younger women being more interested than older women. On the other hand, only 4% of the women had already received genetic counseling and 7% undergone genetic testing. Women with family history of cancer were more knowledgeable about BRCA mutations (pcounseling and testing for BRCA mutations although half of them worry that a positive result might affect their health insurance. Nevertheless, almost all women believe that existing genetic information should be used to inform carriers for preventive purposes.

  1. Higher fish intake is associated with a lower risk of hip fractures in Chinese men and women: a matched case-control study.

    Science.gov (United States)

    Fan, Fan; Xue, Wen-Qiong; Wu, Bao-Hua; He, Ming-Guang; Xie, Hai-Li; Ouyang, Wei-Fu; Tu, Su-Lan; Chen, Yu-Ming

    2013-01-01

    Fish is rich in nutrients that are favorable to bone health, but limited data are available regarding the relationship between fish intake and hip fractures. Our study examined the association between habitual fish intake and risk of hip fractures. A case-control study was performed between June 2009 and June 2012 in Guangdong Province, China. Five hundred and eighty-one hip fracture incident cases, aged 55 to 80 years (mean: 71 years), were enrolled from four hospitals. 1∶1 matched controls by gender and age (±3 years) were also recruited from communities and hospitals. Face-to-face interviews were used to obtain habitual dietary intake and information on various covariates. Univariate conditional logistic regression analyses showed significantly dose-dependent inverse correlations between the risk of hip fractures and the intake of fresh-water fish, sea fish, mollusca, shellfish, and total fish in all of the subjects (p-trend: water fish (p = 0.553). The ORs (95%CI) of hip fractures for the highest (vs. lowest) quartile were 0.80 (0.48-1.31) for fresh-water fish, 0.31 (0.18-0.52) for sea fish, 0.55 (0.34-0.88) for mollusca and shellfish, and 0.47 (0.28-0.79) for total fish, respectively. Stratified and interaction analyses showed that the association was more significant in males than in females (p-interaction = 0.052). Higher intake of seafood is independently associated with lower risk of hip fractures in elderly Chinese. Increasing consumption of sea fish may benefit the prevention of hip fractures in this population.

  2. Higher fish intake is associated with a lower risk of hip fractures in Chinese men and women: a matched case-control study.

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    Fan Fan

    Full Text Available OBJECTIVES: Fish is rich in nutrients that are favorable to bone health, but limited data are available regarding the relationship between fish intake and hip fractures. Our study examined the association between habitual fish intake and risk of hip fractures. METHODS: A case-control study was performed between June 2009 and June 2012 in Guangdong Province, China. Five hundred and eighty-one hip fracture incident cases, aged 55 to 80 years (mean: 71 years, were enrolled from four hospitals. 1∶1 matched controls by gender and age (±3 years were also recruited from communities and hospitals. Face-to-face interviews were used to obtain habitual dietary intake and information on various covariates. RESULTS: Univariate conditional logistic regression analyses showed significantly dose-dependent inverse correlations between the risk of hip fractures and the intake of fresh-water fish, sea fish, mollusca, shellfish, and total fish in all of the subjects (p-trend: <0.001-0.016. After adjusting for covariates, the associations were slightly attenuated but remained significant for all (p-trend: <0.001-0.017 except for fresh-water fish (p = 0.553. The ORs (95%CI of hip fractures for the highest (vs. lowest quartile were 0.80 (0.48-1.31 for fresh-water fish, 0.31 (0.18-0.52 for sea fish, 0.55 (0.34-0.88 for mollusca and shellfish, and 0.47 (0.28-0.79 for total fish, respectively. Stratified and interaction analyses showed that the association was more significant in males than in females (p-interaction = 0.052. CONCLUSION: Higher intake of seafood is independently associated with lower risk of hip fractures in elderly Chinese. Increasing consumption of sea fish may benefit the prevention of hip fractures in this population.

  3. The effect of drospirenone (3 mg) with ethinyl estradiol (30 mcg) containing pills on ovarian blood flows in women with polycystic ovary syndrome: a case controlled study.

    Science.gov (United States)

    Okyay, Emre; Gode, Funda; Acet, Ferruh; Bodur, Taylan; Cagliyan, Erkan; Sahan, Ceyda; Posaci, Cemal; Gulekli, Bulent

    2014-09-01

    To evaluate whether oral contraceptive pill (OCP) therapy has any effects on ovarian stromal blood flow by using pulsed and color Doppler at the end of 3 months follow-up period of OCP-users and non-users with or without polycystic ovary syndrome (PCOS). 200 patients were included in the study. The patients were designed into four groups as follows; Group 1: PCOS patients that received OCP containing 30 mcg ethinyl estradiol (EE) plus 3mg drospirenone for 3 months (DRP n=50); Group 2: PCOS patients that received no medication (n=50); Group 3: Healthy controls that received OCP (EE plus DRP) (n=50); Group 4: healthy controls that received no medication (n=50). Resistance index (RI) and pulsatility index (PI) of both ovarian arteries, hormonal, anthropometric and biochemical parameters were assessed before and after 3 months. There was a significant increament in RI and PI of both ovarian arteries in healthy controls (Group 3) and in women with PCOS (Group 1) who received OCP (povaries remained unchanged in all untreated women with or without PCOS (Groups 2 and 4). OCP therapy reduced ovarian vascularization in both PCOS and healthy users after 3 months of therapy and this decrease is especially noticeable in women with PCOS. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  4. The effect of caesarean section on self-esteem amongst primiparous women in South-Western Nigeria: a case-control study.

    Science.gov (United States)

    Loto, Olabisi M; Adewuya, Abiodun O; Ajenifuja, Olusegun K; Orji, Ernest O; Owolabi, Alexander T; Ogunniyi, Solomon O

    2009-09-01

    This study aims to assess the level of self-esteem of newly delivered mothers who had caesarean section (CS) and evaluate the sociodemographic and obstetrics correlates of low self-esteem in them. Newly delivered mothers who had CS (n = 109) and who had spontaneous vaginal delivery (SVD) (n = 97) completed questionnaires on sociodemographic and obstetrics variables within 1 week of delivery. They also completed the Rosenberg self-esteem scale. RESULTS. Women with CS had statistically significant lower scores on the self-esteem scale than women with SVD (p = 0.006). Thirty (27.5%) of the CS group were classified as having low self-esteem compared with 11 (11.3%) of the SVD group (p = 004). The correlates of low self-esteem in the CS group included polygamy (odd ratio (OR) 4.99, 95% confidence interval (95% CI) 1.62-15.33) and emergency CS (OR 4.66, 95% CI 1.55-16.75). CS in South-Western Nigerian women is associated with lowered self-esteem in the mothers.

  5. Lower Breast Cancer Risk among Women following the World Cancer Research Fund and American Institute for Cancer Research Lifestyle Recommendations: EpiGEICAM Case-Control Study.

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    Adela Castelló

    Full Text Available According to the "World Cancer Research Fund" and the "American Institute of Cancer Research" (WCRF/AICR one in four cancer cases could be prevented through a healthy diet, weight control and physical activity.To explore the association between the WCRF/AICR recommendations and risk of breast cancer.During the period 2006 to 2011 we recruited 973 incident cases of breast cancer and 973 controls from 17 Spanish Regions. We constructed a score based on 9 of the WCRF/AICR recommendations for cancer prevention:: 1Maintain adequate body weight; 2Be physically active; 3Limit the intake of high density foods; 4Eat mostly plant foods; 5Limit the intake of animal foods; 6Limit alcohol intake; 7Limit salt and salt preserved food intake; 8Meet nutritional needs through diet; S1Breastfeed infants exclusively up to 6 months. We explored its association with BC by menopausal status and by intrinsic tumor subtypes (ER+/PR+ & HER2-; HER2+; ER&PR-&HER2- using conditional and multinomial logistic models respectively.Our results point to a linear association between the degree of noncompliance and breast cancer risk. Taking women who met 6 or more recommendations as reference, those meeting less than 3 showed a three-fold excess risk (OR=2.98(CI95%:1.59-5.59, especially for postmenopausal women (OR=3.60(CI95%:1.24;10.47 and ER+/PR+&HER2- (OR=3.60(CI95%:1.84;7.05 and HER2+ (OR=4.23(CI95%:1.66;10.78 tumors. Noncompliance of recommendations regarding the consumption of foods and drinks that promote weight gain in premenopausal women (OR=2.24(CI95%:1.18;4.28; p for interaction=0.014 and triple negative tumors (OR=2.93(CI95%:1.12-7.63; the intake of plant foods in postmenopausal women (OR=2.35(CI95%:1.24;4.44 and triple negative tumors (OR=3.48(CI95%:1.46-8.31; and the alcohol consumption in ER+/PR+&HER2- tumors (OR=1.52 (CI95%:1.06-2.19 showed the strongest associations.Breast cancer prevention might be possible by following the "World Cancer Research Fund" and the

  6. Chemokine Ligand 5 (CCL5 and chemokine receptor (CCR5 genetic variants and prostate cancer risk among men of African Descent: a case-control study

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    Kidd LaCreis R

    2012-11-01

    Full Text Available Abstract Background Chemokine and chemokine receptors play an essential role in tumorigenesis. Although chemokine-associated single nucleotide polymorphisms (SNPs are associated with various cancers, their impact on prostate cancer (PCA among men of African descent is unknown. Consequently, this study evaluated 43 chemokine-associated SNPs in relation to PCA risk. We hypothesized inheritance of variant chemokine-associated alleles may lead to alterations in PCA susceptibility, presumably due to variations in antitumor immune responses. Methods Sequence variants were evaluated in germ-line DNA samples from 814 African-American and Jamaican men (279 PCA cases and 535 controls using Illumina’s Goldengate genotyping system. Results Inheritance of CCL5 rs2107538 (AA, GA+AA and rs3817655 (AA, AG, AG+AA genotypes were linked with a 34-48% reduction in PCA risk. Additionally, the recessive and dominant models for CCR5 rs1799988 and CCR7 rs3136685 were associated with a 1.52-1.73 fold increase in PCA risk. Upon stratification, only CCL5 rs3817655 and CCR7 rs3136685 remained significant for the Jamaican and U.S. subgroups, respectively. Conclusions In summary, CCL5 (rs2107538, rs3817655 and CCR5 (rs1799988 sequence variants significantly modified PCA susceptibility among men of African descent, even after adjusting for age and multiple comparisons. Our findings are only suggestive and require further evaluation and validation in relation to prostate cancer risk and ultimately disease progression, biochemical/disease recurrence and mortality in larger high-risk subgroups. Such efforts will help to identify genetic markers capable of explaining disproportionately high prostate cancer incidence, mortality, and morbidity rates among men of African descent.

  7. The impact of direct-to-consumer marketing of cancer genetic testing on women according to their genetic risk.

    Science.gov (United States)

    Lowery, Jan T; Byers, Tim; Axell, Lisen; Ku, Lisa; Jacobellis, Jillian

    2008-12-01

    To assess the impact of direct-to-consumer marketing for genetic testing among women of varying genetic risk for breast and ovarian cancer. Telephone surveys were conducted with 315 women in Denver, Colorado, one target audience for the Myriad BRACAnalysis ad campaign. Genetic risk was determined from personal and family history and grouped by probability of having a BRCA1/2 mutation (low or =10%). High-risk women were more knowledgeable about BRACAnalysis and more likely to recall the media ads than were low-risk women (60 vs. 39%, P audience. Concern about breast cancer was not appreciably increased. A large percentage of low-risk women (not candidates for testing) expressed interest in testing, suggesting the campaign was too broad. A campaign targeted at high-risk women, who may benefit from testing might be preferred.

  8. Increased midgestational IFN-γ, IL-4 and IL-5 in women bearing a child with autism: A case-control study

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    Goines Paula E

    2011-08-01

    Full Text Available Abstract Background Immune anomalies have been documented in individuals with autism spectrum disorders (ASDs and their family members. It is unknown whether the maternal immune profile during pregnancy is associated with the risk of bearing a child with ASD or other neurodevelopmental disorders. Methods Using Luminex technology, levels of 17 cytokines and chemokines were measured in banked serum collected from women at 15 to 19 weeks of gestation who gave birth to a child ultimately diagnosed with (1 ASD (n = 84, (2 a developmental delay (DD but not autism (n = 49 or (3 no known developmental disability (general population (GP; n = 159. ASD and DD risk associated with maternal cytokine and chemokine levels was estimated by using multivariable logistic regression analysis. Results Elevated concentrations of IFN-γ, IL-4 and IL-5 in midgestation maternal serum were significantly associated with a 50% increased risk of ASD, regardless of ASD onset type and the presence of intellectual disability. By contrast, elevated concentrations of IL-2, IL-4 and IL-6 were significantly associated with an increased risk of DD without autism. Conclusion The profile of elevated serum IFN-γ, IL-4 and IL-5 was more common in women who gave birth to a child subsequently diagnosed with ASD. An alternative profile of increased IL-2, IL-4 and IL-6 was more common for women who gave birth to a child subsequently diagnosed with DD without autism. Further investigation is needed to characterize the relationship between these divergent maternal immunological phenotypes and to evaluate their effect on neurodevelopment.

  9. [A case-control study: association between oral hygiene and oral cancer in non-smoking and non-drinking women].

    Science.gov (United States)

    Wu, J F; Lin, L S; Chen, F; Liu, F Q; Huang, J F; Yan, L J; Liu, F P; Qiu, Y; Zheng, X Y; Cai, L; He, B C

    2017-08-06

    Objective: To evaluate the influence of oral hygiene on risk of oral cancer in non-smoking and non-drinking women. Methods: From September 2010 to February 2016, 242 non-smoking and non-drinking female patients with pathologically confirmed oral cancer were recruited in a hospital of Fuzhou, and another 856 non-smoking and non-drinking healthy women from health examination center in the same hospital were selected as control group. Five oral hygiene related variables including the frequency of teeth brushing, number of teeth lost, poor prosthesis, regular dental visits and recurrent dental ulceration were used to develop oral hygiene index model. Unconditional logistic regression was used to calculate odds ratios ( OR ) and 95% confidence intervals (95 %CI ). The area under the receiver operating characteristic curve (AUROC) was used to evaluate the predictability of the oral hygiene index model. Multivariate logistic regression model was used to analyze the association between oral hygiene index and the incidence of oral cancer. Results: Teeth brushing oral cancer in non-smoking and non-drinking women, the corresponding OR (95 %CI ) were 1.50 (1.08-2.09), 1.81 (1.15-2.85), 1.51 (1.03-2.23), 1.73 (1.15-2.59), 7.30 (4.00-13.30), respectively. The AUROC of the oral hygiene index model was 0.705 9, indicating a high predictability. Multivariate logistic regression showed that the oral hygiene index was associated with risk of oral cancer. The higher the score, the higher risk was observed. The corresponding OR (95 %CI ) of oral hygiene index scores (score 1, score 2, score 3, score 4-5) were 2.51 (0.84-7.53), 4.68 (1.59-13.71), 6.47 (2.18-19.25), 15.29 (5.08-45.99), respectively. Conclusion: Oral hygiene could influence the incidence of oral cancer in non-smoking and non-drinking women, and oral hygiene index has a certain significance in assessing the combined effects of oral hygiene.

  10. A case-control study of association between genetic polymorphisms of metabolizing enzymes GSTM1 and lung cancer susceptibility for the people living in high radon-exposed area

    International Nuclear Information System (INIS)

    Qi Xuesong; Lu Huimin; Xia Ying; Shang Bing; Sun Quanfu; Cui Hongxing; Wang Liping

    2009-01-01

    A case-control study was performed with 53 lung cancer patients and 72 frequency-matched controls to assess the role of genetic polymorphisms of metabolizing enzymes Glutathione S-transferases M1(GSTM1) in risk of developing lung cancer for the people living in high radon-exposed area. The associations between genotypes and risk of developing lung cancer were estimated by odds ratios (ORs) and their 95% confidence intervals (CIs) calculated by unconditional logistic regression. The frequencies of GSTM1 positive polymorphism and null polymorphism were 38.9% and 64.1% respectively in lung cancer patients. The frequencies of GSTM1 positive polymorphism and null polymorphism were 43.1% and 56.9% respectively in controls. The risk of developing lung cancer for GSTM1 null polymorphism was 1.35-fold(95%CI 0.652-2.81). GSTM1 null polymorphism with effective dose <50 mSv could increase the risk of developing lung cancer (OR 1.14, 95%CI 0.198-6.60). The frequency of GSTM1 positive polymorphism of lung cancer patients was lower than that of the controls. Based on those data, the frequency of GSTM1 null polymorphism of lung cancer patients was higher than that of the controls. There was an association between genetic polymorphism of GSTM1 and lung cancer. But the differences were not all statistically significant. (authors)

  11. Smoking in preeclamptic women is associated with higher birthweight for gestational age and lower soluble fms-like tyrosine kinase-1 levels: a nested case control study

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    Kahn Susan R

    2011-11-01

    Full Text Available Abstract Background Smoking paradoxically increases the risk of small-for-gestational-age (SGA birth but protects against preeclampsia. Some studies have reported a "U-shaped" distribution of fetal growth in preeclamptic pregnancies, but reasons for this are unknown. We investigated whether cigarette smoking interacts with preeclampsia to affect fetal growth, and compared levels of soluble fms-like tyrosine kinase-1 (sFlt-1, a circulating anti-angiogenic protein, in preeclamptic smokers and non-smokers. Methods From a multicenter cohort of 5337 pregnant women, we prospectively identified 113 women who developed preeclampsia (cases and 443 controls. Smoking exposure was assessed by self-report and maternal hair nicotine levels. Fetal growth was assessed as z-score of birthweight for gestational age (BWGA. sFlt-1 was measured in plasma samples collected at the 24-26-week visit. Results In linear regression, smoking and preeclampsia were each associated with lower BWGA z-scores (β = -0.29; p = 0.008, and β = -0.67; p Conclusions Maternal smoking seems to protect against preeclampsia-associated fetal growth restriction and may account, at least partly, for the U-shaped pattern of fetal growth described in preeclamptic pregnancies. Smoking may exert this effect by reducing levels of the anti-angiogenic protein sFlt-1.

  12. Case-control study of IL13 polymorphisms, smoking, and rhinoconjunctivitis in Japanese women: the Kyushu Okinawa Maternal and Child Health Study

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    Arakawa Masashi

    2011-10-01

    Full Text Available Abstract Background Six previous studies have examined the relationships between single nucleotide polymorphisms (SNPs in the IL13 gene and allergic rhinitis, but the results have been inconsistent. However, a recent meta-analysis using data from these 6 studies has shown that the A allele of IL13 SNP rs20541 was associated with an increased risk of allergic rhinitis, whereas no such relationship existed between IL13 SNP rs1800925 and allergic rhinitis. We investigated the associations between IL13 SNPs rs1800925 and rs20541 and the risk of rhinoconjunctivitis in Japanese women. Methods Included were 393 cases who met the criteria of the International Study of Asthma and Allergies in Childhood (ISAAC for rhinoconjunctivitis. Control subjects were 767 women without rhinoconjunctivitis according to the ISAAC criteria, who had also not been diagnosed with allergic rhinitis by a doctor. Adjustment was made for age, region of residence, presence of older siblings, smoking, family history of allergic rhinitis, and education. Results Compared with the GG genotype of IL13 SNP rs20541, the AA genotype, occurring in 7.1% of control subjects, was significantly positively related to the risk of rhinoconjunctivitis: the adjusted odds ratio was 1.65 (95% confidence interval: 1.05 - 2.60. SNP rs1800925 was not associated with rhinoconjunctivitis. The haplotype comprising the rs1800925 C allele and the rs20541 A allele was significantly positively related to rhinoconjunctivitis. The multiplicative interactions between the two SNPs under study and smoking on the risk of rhinoconjunctivitis were not statistically significant. Based on the recessive model, however, the additive interaction between SNP rs1800925, but not rs20541, and smoking was significant. Conclusions This study suggests that the minor genotype of IL13 SNP rs20541 and the CA haplotype are significantly positively associated with the risk of rhinoconjunctivitis. In addition, a new pattern of

  13. Increased Interstitial Concentrations of Glutamate and Pyruvate in Vastus Lateralis of Women with Fibromyalgia Syndrome Are Normalized after an Exercise Intervention - A Case-Control Study.

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    Björn Gerdle

    Full Text Available Fibromyalgia syndrome (FMS is associated with central alterations, but controversies exist regarding the presence and role of peripheral factors. Microdialysis (MD can be used in vivo to study muscle alterations in FMS. Furthermore for chronic pain conditions such as FMS, the mechanisms for the positive effects of exercise are unclear. This study investigates the interstitial concentrations of algesics and metabolites in the vastus lateralis muscle of 29 women with FMS and 28 healthy women before and after an exercise intervention.All the participants went through a clinical examination and completed a questionnaire. In addition, their pressure pain thresholds (PPTs in their upper and lower extremities were determined. For both groups, MD was conducted in the vastus lateralis muscle before and after a 15-week exercise intervention of mainly resistance training of the lower limbs. Muscle blood flow and interstitial muscle concentrations of lactate, pyruvate, glutamate, glucose, and glycerol were determined.FMS was associated with significantly increased interstitial concentrations of glutamate, pyruvate, and lactate. After the exercise intervention, the FMS group exhibited significant decreases in pain intensity and in mean interstitial concentrations of glutamate, pyruvate, and glucose. The decrease in pain intensity in FMS correlated significantly with the decreases in pyruvate and glucose. In addition, the FMS group increased their strength and endurance.This study supports the suggestion that peripheral metabolic and algesic muscle alterations are present in FMS patients and that these alterations contribute to pain. After an exercise intervention, alterations normalized, pain intensity decreased (but not abolished, and strength and endurance improved, all findings that suggest the effects of exercise are partially peripheral.

  14. Genetic markers of comorbid depression and alcoholism in women.

    Science.gov (United States)

    Procopio, Daniela O; Saba, Laura M; Walter, Henriette; Lesch, Otto; Skala, Katrin; Schlaff, Golda; Vanderlinden, Lauren; Clapp, Peter; Hoffman, Paula L; Tabakoff, Boris

    2013-06-01

    Alcohol dependence (AD) is often accompanied by comorbid depression. Recent clinical evidence supports the benefit of subtype-specific pharmacotherapy in treating the population of alcohol-dependent subjects with comorbid major depressive disorder (MDD). However, in many alcohol-dependent subjects, depression is a reactive response to chronic alcohol use and withdrawal and abates with a period of abstinence. Genetic markers may distinguish alcohol-dependent subjects with MDD not tied chronologically and etiologically to their alcohol consumption. In this work, we investigated the association of adenylyl cyclase genes (ADCY1-9), which are implicated in both AD and mood disorders, with alcoholism and comorbid depression. Subjects from Vienna, Austria (n = 323) were genotyped, and single nucleotide polymorphisms (1,152) encompassing the genetic locations of the 9 ADCY genes were examined. The Vienna cohort contained alcohol-dependent subjects differentiated using the Lesch Alcoholism Typology. In this typology, subjects are segregated into 4 types. Type III alcoholism is distinguished by co-occurrence of symptoms of depression and by affecting predominantly females. We identified 4 haplotypes associated with the phenotype of Type III alcoholism in females. One haplotype was in a genomic area in proximity to ADCY2, but actually within a lincRNA gene, 2 haplotypes were within ADCY5, and 1 haplotype was within the coding region of ADCY8. Three of the 4 haplotypes contributed independently to Type III alcoholism and together generated a positive predictive value of 72% and a negative predictive value of 78% for distinguishing women with a Lesch Type III diagnosis versus women designated as Type I or II alcoholics. Polymorphisms in ADCY8 and ADCY5 and within a lincRNA are associated with an alcohol-dependent phenotype in females, which is distinguished by comorbid signs of depression. Each of these genetic locations can rationally contribute to the polygenic etiology of

  15. Influence of oral hygiene and its interaction with standard of education on the risk of oral cancer in women who neither smoked nor drank alcohol: a hospital-based, case-control study.

    Science.gov (United States)

    Chen, F; He, B-C; Yan, L-J; Qiu, Y; Lin, L-S; Cai, L

    2017-04-01

    We know of only limited data about the role of oral hygiene and the risk of oral cancer with different standards of education. The aim of this study was to assess the association between oral hygiene and risk of oral cancer, with stratification by standard of education, in Chinese women. We organised a case-control study with 250 women with oral cancer and 996 age-matched controls in Fujian, China. Data were collected by personal interview using a structured questionnaire. We used unconditional logistic regression with stratification by educational standard to estimate the odds ratios (OR) and 95% CI. Tooth-brushing twice a day or more was inversely related to the risk of oral cancer in women with high school education or above (OR 0.50; 95% CI 0.25 to 0.98), but not in those who were illiterate or had primary-middle school education. Wearing dentures showed an increased risk only in less well-educated women: the OR were 2.23 (95% CI 1.14 to 4.34) for the illiterate and 1.68 (95% CI 1.08 to 2.62) for the primary-middle school group. The loss of more than five teeth and oral ulceration were associated with increased risks of oral cancer in all three groups. There was also a multiplicative interaction between oral hygiene and standard of education for risk of oral cancer (p=0.001). Our results suggest that oral hygiene seems to have a critical role in the risk of oral cancer in Chinese women, but this effect may be modified by their educational standard. Copyright © 2016 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  16. A case-control study to compare the outcome of women treated by two minimally invasive procedures-ultraminilaparotomy myomectomy and laparoscopic myomectomy

    Directory of Open Access Journals (Sweden)

    Kuo-Chang Wen

    2018-04-01

    Full Text Available Objective: Ultraminilaparotomy myomectomy (UMLT-M with less 4 cm transverse skin incision and conventional 3-port wound laparoscopic myomectomy (LM approaches were proposed as alternative minimally invasive procedures in the management of women with symptomatic uterine myomas but few studies have compared the outcomes of both procedures. Materials and methods: Between January 2002 and December 2003, 71 patients undergoing UMLT-M were compared with those 71 women undergoing LM. The last data collection for all patients was done on 31 December 2016. The parameters for comparison included the characteristics of the uterine myomas, surgical parameters, morbidities, and outcomes. Surgical parameters included the operative time (minutes, estimated blood loss (milliliters, time for removal of drainage, percentage of blood transfusion and co-morbidities. Results: Mean operative time in the LM group was significantly longer than that in the UMLT-M group (208.7 ± 65.9 vs. 98.0 ± 28.2 min, p < 0.001. Intra-operative blood loss was significantly higher in the LM group than that in the UMLT-M group (210.9 ± 184.5 vs. 111.7 ± 108.4 ml, p < 0.001. However, more patients had postoperative fever in the UMLT-M group (39.4% vs. 8.5%, p < 0.001. The recurrence rate of myoma at 5-year follow-up was significantly different between two groups (35.2% of UMLT-M vs. 57.7% of LM, p = 0.007, but there was no difference when follow-up time was over ten years. The location of the myoma recurrence was different between two groups with higher recurrence rates in the fundal and lateral sides of uterus in the UMLT-M group and in the anterior wall of uterus in the LM group. However, the overall symptom control, the need of repeated myoma-related surgery and subsequent pregnancy outcome of both groups seemed to be similar in both groups. Conclusions: More operative time and more blood loss reflected that LM demanded skills, experience and equipment

  17. The risk of missed abortion associated with the levels of tobacco, heavy metals and phthalate in hair of pregnant woman: A case control study in Chinese women.

    Science.gov (United States)

    Zhao, Ranran; Wu, Yuelian; Zhao, Fangfang; Lv, Yingnan; Huang, Damin; Wei, Jinlian; Ruan, Chong; Huang, Mingli; Deng, Jinghuan; Huang, Dongping; Qiu, Xiaoqiang

    2017-12-01

    To assess the association between exposure to the tobacco, heavy metals and phthalate on early pregnancy and missed abortion.42 women with missed abortion and 57 matched controls (women with normal pregnancies) were recruited between March and May 2012, from the Department of Gynecology and Obstetrics, First Affiliated Hospital of Guangxi Medical University and the People Hospital of Guangxi Zhuang Autonomous Region. The questionnaire survey was carried on to learn about the basic conditions, as well as smoking history of all participants. The levels of tobacco, heavy metal, and phthalate exposure were compared between the 2 groups by measuring nicotine, cocaine, cadmium (Cd), manganese (Mn), plumbum (Pb) and dimethyl phthalate (DMP), diethyl phthalate (DEP), dibutyl phthalate (DBP), butyl benzyl phthalate (BBP), di-2-ethyl hexyl phthalate (DEHP) in the hair samples.Out results showed that significant differences in age (P = .042), premarital examination (P = .041), passive smoking (P = .021), and heavy metal exposure (P = .022) were found in the case group compared to the control. In addition, the concentration of nicotine (P = .037), cotinine (P = .018), Cd (P = .01), Pb (P = .038) and DEHP (P = .001) in the hair were significantly higher in the case group. Furthermore, logistic analysis revealed that age [Odds Ratio (OR) 1.172, 95% confidence interval (CI) 1.036-1.327], Cd (OR 8.931, 95% CI 2.003-39.811), Cotinine (OR 4.376, 95% CI 1.159-16.531), DEHP (OR 1.863, 95% CI 1.103-3.146) were important factors contributing to the missed abortion (P < .05).It was demonstrated that high gestational age, passive smoking, heavy metals, and the phthalate exposure were the risk factors for missed abortion, while the premarital health examination was a protective factor. Avoiding these harmful substances before getting pregnant and during the early stages of pregnancy, might help prevent missed abortions. Copyright © 2017 The Authors

  18. Impact of violence against women on severe acute maternal morbidity in the intensive care unit, including neonatal outcomes: a case-control study protocol in a tertiary healthcare facility in Lima, Peru.

    Science.gov (United States)

    Ayala Quintanilla, Beatriz Paulina; Pollock, Wendy E; McDonald, Susan J; Taft, Angela J

    2018-03-14

    Preventing and reducing violence against women (VAW) and maternal mortality are Sustainable Development Goals. Worldwide, the maternal mortality ratio has fallen about 44% in the last 25 years, and for one maternal death there are many women affected by severe acute maternal morbidity (SAMM) requiring management in the intensive care unit (ICU). These women represent the most critically ill obstetric patients of the maternal morbidity spectrum and should be studied to complement the review of maternal mortality. VAW has been associated with all-cause maternal deaths, and since many women (30%) endure violence usually exerted by their intimate partners and this abuse can be severe during pregnancy, it is important to determine whether it impacts SAMM. Thus, this study aims to investigate the impact of VAW on SAMM in the ICU. This will be a prospective case-control study undertaken in a tertiary healthcare facility in Lima-Peru, with a sample size of 109 cases (obstetric patients admitted to the ICU) and 109 controls (obstetric patients not admitted to the ICU selected by systematic random sampling). Data on social determinants, medical and obstetric characteristics, VAW, pregnancy and neonatal outcome will be collected through interviews and by extracting information from the medical records using a pretested form. Main outcome will be VAW rate and neonatal mortality rate between cases and controls. VAW will be assessed by using the WHO instrument. Binary logistic followed by stepwise multivariate regression and goodness of fit test will assess any association between VAW and SAMM. Ethical approval has been granted by the La Trobe University, Melbourne-Australia and the tertiary healthcare facility in Lima-Peru. This research follows the WHO ethical and safety recommendations for research on VAW. Findings will be presented at conferences and published in peer-reviewed journals. © Article author(s) (or their employer(s) unless otherwise stated in the text of the

  19. Melanoma risk prediction using a multilocus genetic risk score in the Women's Health Initiative cohort.

    Science.gov (United States)

    Cho, Hyunje G; Ransohoff, Katherine J; Yang, Lingyao; Hedlin, Haley; Assimes, Themistocles; Han, Jiali; Stefanick, Marcia; Tang, Jean Y; Sarin, Kavita Y

    2018-07-01

    Single-nucleotide polymorphisms (SNPs) associated with melanoma have been identified though genome-wide association studies. However, the combined impact of these SNPs on melanoma development remains unclear, particularly in postmenopausal women who carry a lower melanoma risk. We examine the contribution of a combined polygenic risk score on melanoma development in postmenopausal women. Genetic risk scores were calculated using 21 genome-wide association study-significant SNPs. Their combined effect on melanoma development was evaluated in 19,102 postmenopausal white women in the clinical trial and observational study arms of the Women's Health Initiative dataset. Compared to the tertile of weighted genetic risk score with the lowest genetic risk, the women in the tertile with the highest genetic risk were 1.9 times more likely to develop melanoma (95% confidence interval 1.50-2.42). The incremental change in c-index from adding genetic risk scores to age were 0.075 (95% confidence interval 0.041-0.109) for incident melanoma. Limitations include a lack of information on nevi count, Fitzpatrick skin type, family history of melanoma, and potential reporting and selection bias in the Women's Health Initiative cohort. Higher genetic risk is associated with increased melanoma prevalence and incidence in postmenopausal women, but current genetic information may have a limited role in risk prediction when phenotypic information is available. Copyright © 2018 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

  20. Maternal welfare, morbidity and mortality 6-15 years after a pregnancy complicated by alcohol and substance abuse: a register-based case-control follow-up study of 524 women.

    Science.gov (United States)

    Kahila, Hanna; Gissler, Mika; Sarkola, Taisto; Autti-Rämö, Ilona; Halmesmäki, Erja

    2010-10-01

    A register-based retrospective case-control study to investigate the long-term morbidity, mortality, and welfare among women with alcohol and/or substance misuse identified during pregnancy. Cohort of 524 women followed-up ante- and perinatally 1992-2001 at special out-patient clinics of maternity hospitals in the capital area of Finland. The control group of 1792 women with no evidence of alcohol or substance misuse was matched for maternal age, parity, date of birth and hospital of index delivery. Both groups were followed-up until end of 2007. 7.9% (42/524) of the cases and 0.2% (4/1792) of the controls had died by the end of the median follow-up of 9 years (OR 38, 95% CI 14-108). The cases displayed significant morbidity requiring in-patient care in the areas of mental disorders (AOR 8.8, 95% CI 6.5-11.9), viral (AOR 23.5, 95% CI 8.8-62.7) and bacterial (AOR 6.1, 95% CI 3.5-10.4) infections, skin diseases (AOR 3.9, 95% CI 2.0-7.8) and injury and poisoning (AOR 4.2, 95% CI 3.1-5.6). The cases displayed more out-patient visits (OR 2.7, 95% CI 2.7-2.8). Their mean length of hospital stay was longer compared to controls (10.3 vs. 4.4 days, p<0.001). The risk of pension granted due to a disorder, disease or disability (OR 8.8, 95% CI 6.0-13.0) and the risk for minimum unemployment benefit were higher compared to controls (OR 2.1, 95% CI 1.8-2.5). These women display significant long-term morbidity, mortality and loss of productivity after delivery. The results emphasize the importance of adequate postnatal follow-up and treatment for misuse. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  1. Effect of Oestrogen on Altering the Serum and Urinary Levels of Calcium, Phosphate and Magnesium in Hysterectomised Women Compared to Natural Menopausal South Indian Women: A Case Control Study.

    Science.gov (United States)

    Sonu, Yeldose; Avinash, S S; Sreekantha; Arun Kumar, K; Malathi, M; Shivashankara, A R

    2016-07-01

    Given the paucity of studies conducted to know the effect of suddenness and earlier onset of endocrinological changes associated with hysterectomy, on the serum and urinary levels of calcium, magnesium and phosphate the present study was conducted to compare the levels of calcium, magnesium and phosphate in serum and urine of hysterectomised and natural menopausal south Indian women. This is a cross-sectional observational study. The study included three groups of 30 healthy premenopausal, 30 early surgical menopausal and 30 natural post menopausal women. Women suffering from any endocrine disease were excluded. Analysis was performed in serum and urine sample. The levels of calcium, magnesium and phosphate in serum and calcium/creatinine, magnesium/creatinine and phosphate/creatinine ratio were estimated in urine by spectrophotometric method. Hysterectomised women (serum calcium: 8.7 ± 0.09 mg/dl; urine calcium/creatinine: 0.16 ± 0.02) have significantly low serum calcium (p women (serum magnesium: 2.1 ± 0.03; serum phosphate: 4.4 ± 0.16; urinary calcium/creatinine: 0.17 ± 0.02; urinary magnesium/creatinine: 0.09 ± 0.01) have significantly high serum magnesium (p = 0.016), serum phosphate (p = 0.043) and high urinary calcium/creatinine (p = 0.002), magnesium/creatinine ratio (p = 0.025) compared to healthy pre menopausal women. Post menopausal women (serum calcium: 9.1 ± 0.08) have significantly high serum calcium and phosphate compared to hysterectomised women (serum phosphate: 3.93 ± 0.11). Hysterectomised women have significantly low serum calcium, oestrogen and high urinary calcium/creatinine ratio compared to healthy premenopausal women and low serum calcium and low serum phosphate compared to natural postmenopausal women. Natural postmenopausal women had low serum oestrogen and high serum magnesium, serum phosphate, urinary calcium creatinine ratio and urinary magnesium creatinine ratio compared to healthy premenopausal

  2. Association of genetic polymorphisms CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 with tobacco-induced lung Cancer: case-control study in an Egyptian population.

    Science.gov (United States)

    Ezzeldin, Nada; El-Lebedy, Dalia; Darwish, Amira; El Bastawisy, Ahmed; Abd Elaziz, Shereen Hamdy; Hassan, Mirhane Mohamed; Saad-Hussein, Amal

    2018-05-03

    Several studies have reported the role of CYP2A6 genetic polymorphisms in smoking and lung cancer risk with some contradictory results in different populations. The purpose of the current study is to assess the contribution of the CYP2A6*2 rs1801272 and CYP2A6*9 rs28399433 gene polymorphisms and tobacco smoking in the risk of lung cancer in an Egyptian population. A case-control study was conducted on 150 lung cancer cases and 150 controls. All subjects were subjected to blood sampling for Extraction of genomic DNA and Genotyping of the CYP2A6 gene SNPs (CYP2A6*2 (1799 T > A) rs1801272 and CYP2A6*9 (- 48 T > G) rs28399433 by Real time PCR. AC and CC genotypes were detected in CYP2A6*9; and AT genotype in CYP2A6*2. The frequency of CYP2A6*2 and CYP2A6*9 were 0.7% and 3.7% respectively in the studied Egyptian population. All cancer cases with slow metabolizer variants were NSCLC. Non-smokers represented 71.4% of the CYP2A6 variants. There was no statistical significant association between risk of lung cancer, smoking habits, heaviness of smoking and the different polymorphisms of CYP2A6 genotypes. The frequency of slow metabolizers CYP2A6*2 and CYP2A6*9 are poor in the studied Egyptian population. Our findings did not suggest any association between CYP2A6 genotypes and risk of lung cancer.

  3. The Glioma International Case-Control Study

    DEFF Research Database (Denmark)

    Amirian, E. Susan; Armstrong, Georgina N; Zhou, Renke

    2016-01-01

    Decades of research have established only a few etiological factors for glioma, which is a rare and highly fatal brain cancer. Common methodological challenges among glioma studies include small sample sizes, heterogeneity of tumor subtypes, and retrospective exposure assessment. Here, we briefly...... describe the Glioma International Case-Control (GICC) Study (recruitment, 2010-2013), a study being conducted by the Genetic Epidemiology of Glioma International Consortium that integrates data from multiple data collection sites, uses a common protocol and questionnaire, and includes biospecimen...

  4. Changes of insulin resistance and β-cell function in women with gestational diabetes mellitus and normal pregnant women during mid- and late pregnant period: a case-control study.

    Science.gov (United States)

    Wang, Yun-Hui; Wu, Hui-Hua; Ding, Hong; Li, Yan; Wang, Zhen-Hua; Li, Feng; Zhang, Jian-Ping

    2013-03-01

    The aim of this study was to observe insulin resistance and β-cell function changes among women diagnosed with gestational impaired glucose tolerance or gestational diabetes mellitus (GDM) in mid-pregnancy. Sixty-four pregnant women receiving prenatal care underwent an oral glucose tolerance test at 20-24 weeks of gestation and an insulin release test. The GDM group included 34 pregnant women diagnosed with gestational impaired glucose tolerance or GDM, and the subjects with normal blood glucose were the control group. Insulin resistance and islet β-cell function changes were observed with the oral glucose tolerance test and insulin release test. The homeostatic model assessment-β levels in late pregnancy were higher than those in mid-pregnancy for both groups, and the primary time effect was statistically significant. The early insulin secretion index (ΔI(30)/ΔG(30)) values in mid- and late pregnancy were lower in the GDM group. The values of the area under the curve of blood glucose in mid- and late pregnancy were higher in the GDM group than those in the control group. Insulin resistance was higher in GDM patients than in normal pregnant women. Insulin resistance was aggravated, and β-cell's ability to compensate for the increased insulin resistance by modulating insulin secretion was aggravated, as gestational week increased in women with gestational diabetes and normal pregnant women. Insulin resistance in women with GDM is higher than in pregnant women with normal metabolism of glucose. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

  5. African American women's limited knowledge and experiences with genetic counseling for hereditary breast cancer.

    Science.gov (United States)

    Sheppard, Vanessa B; Graves, Kristi D; Christopher, Juleen; Hurtado-de-Mendoza, Alejandra; Talley, Costellia; Williams, Karen Patricia

    2014-06-01

    Genetic counseling and testing for hereditary breast cancer have the potential benefit of early detection and early interventions in African American women. However, African American women have low use of these services compared to White women. We conducted two focus groups with African American women diagnosed with breast cancer (affected group, n = 13) and women with at least one first-degree relative with breast/ovarian cancer (unaffected group, n = 8). A content analysis approach was employed to analyze interview data. Breast cancer survivors had more knowledge about genetic counseling and testing than participants who were unaffected with cancer. However, knowledge about genetic counseling was limited in both groups. Barriers to pursuing genetic counseling and testing included poor understanding of the genetic counseling and testing process, fear of carrying the mutation, concerns about discrimination, and cost. Motivators to participate in genetic counseling and testing included desire to help family members, insurance coverage, and potential of benefiting the larger African American community. Education efforts are needed to increase genetic counseling and testing awareness in the African American community.

  6. Risk perception among women receiving genetic counseling: a population-based follow-up study

    DEFF Research Database (Denmark)

    Mikkelsen, Ellen M; Sunde, Lone; Johansen, Christoffer

    2007-01-01

    -up study of 213 women who received genetic counseling for hereditary breast and ovarian cancer, 319 women who underwent mammography (Reference Group I), and a random sample of 1070 women from the general population (Reference Group II). RESULTS: Women who received genetic counseling decreased...... counseling, compared to a reduction of 5% (p=0.03) and 2% (p=0.01) in Reference Groups I and II, respectively. Risk communicated only in words, inaccurate risk perception at baseline, and presence of a familial mutation appeared to be predictors of inaccurate risk perception 12 months after counseling......BACKGROUND: We aimed to explore the impact of genetic counseling on perceived personal lifetime risk of breast cancer, the accuracy of risk perception, and possible predictors of inaccurate risk perception 1 year following counseling. METHODS: We conducted a population-based prospective follow...

  7. Genetic structure of Mexican Mestizo women with breast cancer based on three STR loci.

    Science.gov (United States)

    Calderón-Garcidueñas, Ana L; Rivera-Prieto, Roxana A; Ortíz-Lopez, Rocio; Rivas, Fernando; Barrera-Saldaña, Hugo A; Peñaloza-Espinosa, Rosenda I; Cerda-Flores, Ricardo M

    2008-01-01

    The aim of this population genetics study was to compare the genetic structure of Mexican women with breast cancer (BrCa) with previously reported data of four random populations (Nuevo León, Hispanics, Chihuahua, and Central Region of Mexico). A sample of 115 unrelated women with BrCa and whose four grandparents were born in five zones of Mexico were interviewed at a reference hospital in Northeastern Mexico. Noncodifying STRs D7S820, D13S317, and D16S39 were analyzed; genotype distribution was in agreement with Hardy-Weinberg expectations for all three markers. Similar allele frequencies among four random populations and this selected population were found. According with this and previous studies using molecular and nonmolecular nuclear DNA markers not associated with any disease, Mexican Mestizo population is genetically homogeneous and therefore, genetic causes of BrCa are less heterogeneous, simplifying genetic epidemiologic studies.

  8. Genetic diversity of Trichomonas vaginalis reinfection in HIV-positive women.

    Science.gov (United States)

    Conrad, Melissa D; Kissinger, Patricia; Schmidt, Norine; Martin, David H; Carlton, Jane M

    2013-09-01

    Recently developed genotyping tools allow better understanding of Trichomonas vaginalis population genetics and epidemiology. These tools have yet to be applied to T vaginalis collected from HIV+ populations, where understanding the interaction between the pathogens is of great importance due to the correlation between T vaginalis infection and HIV transmission. The objectives of the study were twofold: first, to compare the genetic diversity and population structure of T vaginalis collected from HIV+ women with parasites from reference populations; second, to use the genetic markers to perform a case study demonstrating the usefulness of these techniques in investigating the mechanisms of repeat infections. Repository T vaginalis samples from a previously described treatment trial were genotyped at 11 microsatellite loci. Estimates of genetic diversity and population structure were determined using standard techniques and compared with previously reported estimates of global populations. Genotyping data were used in conjunction with behavioural data to evaluate mechanisms of repeat infections. T vaginalis from HIV+ women maintain many of the population genetic characteristics of parasites from global reference populations. Although there is evidence of reduced diversity and bias towards type 1 parasites in the HIV+ population, the populations share a two-type population structure and parasite haplotypes. Genotyping/behavioural data suggest that 36% (12/33) of repeat infections in HIV+ women can be attributed to treatment failure. T vaginalis infecting HIV+ women is not genetically distinct from T vaginalis infecting reference populations. Information from genotyping can be valuable for understanding mechanisms of repeat infections.

  9. Temperament and character associated with depressive symptoms in women: analysis of two genetically informative samples.

    Science.gov (United States)

    Yuh, Jongil; Neiderhiser, Jenae M; Lichtenstein, Paul; Hansson, Kjell; Cederblad, Marianne; Elthammer, Olle; Reiss, David

    2009-09-01

    Although previous research has explored associations between personality and depressive symptoms, a limited number of studies have assessed the extent to which genetic and environmental influences explain the association. This study investigated how temperament and character were associated with depressive symptoms in 131 pairs of twin and sibling women in early adulthood, as well as 326 pairs of twin women in middle adulthood. Results indicated that genetic influences accounted for a moderate to substantial percentage of the association between these personality features and depressive symptoms, emphasizing the role of genetic influences. Nonshared environmental influences made important contributions to the association between character and depressive symptoms, particularly in the sample of middle-aged twin women. These findings suggest that unique social experiences and relationships with a partner in adulthood may play an important role in these associations between character and depressive symptoms.

  10. Analysis of single nucleotide polymorphisms in case-control studies.

    Science.gov (United States)

    Li, Yonghong; Shiffman, Dov; Oberbauer, Rainer

    2011-01-01

    Single nucleotide polymorphisms (SNPs) are the most common type of genetic variants in the human genome. SNPs are known to modify susceptibility to complex diseases. We describe and discuss methods used to identify SNPs associated with disease in case-control studies. An outline on study population selection, sample collection and genotyping platforms is presented, complemented by SNP selection, data preprocessing and analysis.

  11. Lifestyle and Genetic Predictors of Stiffness Index in Community-dwelling Elderly Korean Men and Women

    Directory of Open Access Journals (Sweden)

    Kyung-Ae Park, PhD

    2015-09-01

    Conclusions: Low SI was common in both elderly men and women. We found gender differences in factors linked to low SI. In multiple regression analysis, nutritional status and physical activity were more important factors in men, whereas alcohol consumption, educational level, and genetic polymorphism were significant factors predicting low SI in women. Gender-specific modifiable risk factors associated with low SI should be considered when developing osteoporosis prevention programs for the elderly.

  12. The severity assessment of critically ill preeclamptic women: a case-control study A avaliação de gravidade de mulheres em estado grave por pré-eclâmpsia: estudo caso-controle

    Directory of Open Access Journals (Sweden)

    João Paulo Souza

    2006-03-01

    Full Text Available BACKGROUND AND OBJECTIVES: The assessment of illness severity and prognosis of obstetric patients by scoring systems is still a controversial issue. Preeclampsia is a leading cause of severe maternal morbidity and mortality, and a major cause of obstetric admission to intensive care unit. There is paucity of data regarding the predictability of critically ill preeclamptic women and the application of scoring systems to this population. This study aimed to evaluate and compare the application of APACHE II, SAPS II and MPM II scoring systems between a preeclamptic population and a non obstetric female population. METHODS: A case-control study was conducted on 28 preeclamptic women and 56 non obstetric female patients, admitted to a general intensive care unit over a period of 10 years. The predictive accuracy of the prognostic evaluation systems was estimated by the area under the receiver operator characteristic curve. RESULTS: The mortality rate was 21.4% (6:28 for the study group and 35.7% (20:56 for the control group, with an OR = 0.49 (95%CI = 0.17-1.41. The main causes of ICU admission of preeclamptic women were HELLP syndrome, coma and pulmonary edema. In the preeclamptic population, only the MPM II score showed an area under the ROC curve statistically different from 0.500, while in the control group, all scoring systems had their areas under the ROC curves statistically different from 0.500. CONCLUSIONS: The application of APACHE II and SAPS II to evaluate critically ill preeclamptic women may be not appropriate.JUSTIFICATIVA E OBJETIVOS: A avaliação de gravidade e do prognóstico de pacientes obstétricas através de escores é ainda tema controverso, sendo escassa a informação sobre mulheres com pré-eclâmpsia. Esta é uma das maiores causas de morbidade materna grave e de mortalidade materna, além de ser também uma das principais causas de internação obstétrica em UTI. Os objetivos deste estudo foram avaliar e comparar a

  13. Lifestyle and Genetic Predictors of Stiffness Index in Community-dwelling Elderly Korean Men and Women.

    Science.gov (United States)

    Park, Kyung-Ae; Park, Yeon-Hwan; Suh, Min-Hee; Choi-Kwon, Smi

    2015-09-01

    Differing lifestyle, nutritional, and genetic factors may lead to a differing stiffness index (SI) determined by quantitative ultrasound in elderly men and women. The purpose of this study was to determine SI and the gender-specific factors associated with low SI in a Korean elderly cohort. This was a cross-sectional descriptive study identifying the gender-specific factors related to SI in 252 men and women aged 65 years and greater from local senior centers in Seoul, Korea between January and February 2009. The mean SI of elderly men was significantly higher than that of the women's. A multiple regression analysis reveals that age, nutritional status, and physical activity were predictive factors of lower SI in men, whereas age, alcohol consumption, educational level, and genetic polymorphism were predictive factors for elderly women. Low SI was common in both elderly men and women. We found gender differences in factors linked to low SI. In multiple regression analysis, nutritional status and physical activity were more important factors in men, whereas alcohol consumption, educational level, and genetic polymorphism were significant factors predicting low SI in women. Gender-specific modifiable risk factors associated with low SI should be considered when developing osteoporosis prevention programs for the elderly. Copyright © 2015. Published by Elsevier B.V.

  14. Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women study

    Directory of Open Access Journals (Sweden)

    Sorkin John D

    2008-08-01

    Full Text Available Abstract Background Although cigarette smoking is a well-established risk factor for vascular disease, the genetic mechanisms that link cigarette smoking to an increased incidence of stroke are not well understood. Genetic variations within the genes of the inflammatory pathways are thought to partially mediate this risk. Here we evaluate the association of several inflammatory gene single nucleotide polymorphisms (SNPs with ischemic stroke risk among young women, further stratified by current cigarette smoking status. Methods A population-based case-control study of stroke among women aged 15–49 identified 224 cases of first ischemic stroke (47.3% African-American and 211 age-comparable control subjects (43.1% African-American. Several inflammatory candidate gene SNPs chosen through literature review were genotyped in the study population and assessed for association with stroke and interaction with smoking status. Results Of the 8 SNPs (across 6 genes analyzed, only IL6 SNP rs2069832 (allele C, African-American frequency = 92%, Caucasian frequency = 55% was found to be significantly associated with stroke using an additive model, and this was only among African-Americans (age-adjusted: OR = 2.2, 95% CI = 1.0–5.0, p = 0.049; risk factor adjusted: OR = 2.5, 95% CI = 1.0–6.5, p = 0.05. When stratified by smoking status, two SNPs demonstrated statistically significant gene-environment interactions. First, the T allele (frequency = 5% of IL6 SNP rs2069830 was found to be protective among non-smokers (OR = 0.30, 95% CI = 0.11–.082, p = 0.02, but not among smokers (OR = 1.63, 95% CI = 0.48–5.58, p = 0.43; genotype by smoking interaction (p = 0.036. Second, the C allele (frequency = 39% of CD14 SNP rs2569190 was found to increase risk among smokers (OR = 2.05, 95% CI = 1.09–3.86, p = 0.03, but not among non-smokers (OR = 0.93, 95% CI = 0.62–1.39, p = 0.72; genotype by smoking interaction (p = 0.039. Conclusion This study demonstrates

  15. Interaction between common breast cancer susceptibility variants, genetic ancestry, and nongenetic risk factors in Hispanic women.

    Science.gov (United States)

    Fejerman, Laura; Stern, Mariana C; John, Esther M; Torres-Mejía, Gabriela; Hines, Lisa M; Wolff, Roger K; Baumgartner, Kathy B; Giuliano, Anna R; Ziv, Elad; Pérez-Stable, Eliseo J; Slattery, Martha L

    2015-11-01

    Most genetic variants associated with breast cancer risk have been discovered in women of European ancestry, and only a few genome-wide association studies (GWAS) have been conducted in minority groups. This research disparity persists in post-GWAS gene-environment interaction analyses. We tested the interaction between hormonal and lifestyle risk factors for breast cancer, and ten GWAS-identified SNPs among 2,107 Hispanic women with breast cancer and 2,587 unaffected controls, to gain insight into a previously reported gene by ancestry interaction in this population. We estimated genetic ancestry with a set of 104 ancestry-informative markers selected to discriminate between Indigenous American and European ancestry. We used logistic regression models to evaluate main effects and interactions. We found that the rs13387042-2q35(G/A) SNP was associated with breast cancer risk only among postmenopausal women who never used hormone therapy [per A allele OR: 0.94 (95% confidence intervals, 0.74-1.20), 1.20 (0.94-1.53), and 1.49 (1.28-1.75) for current, former, and never hormone therapy users, respectively, Pinteraction 0.002] and premenopausal women who breastfed >12 months [OR: 1.01 (0.72-1.42), 1.19 (0.98-1.45), and 1.69 (1.26-2.26) for never, 12 months breastfeeding, respectively, Pinteraction 0.014]. The correlation between genetic ancestry, hormone replacement therapy use, and breastfeeding behavior partially explained a previously reported interaction between a breast cancer risk variant and genetic ancestry in Hispanic women. These results highlight the importance of understanding the interplay between genetic ancestry, genetics, and nongenetic risk factors and their contribution to breast cancer risk. ©2015 American Association for Cancer Research.

  16. Alcohol-related breast cancer in postmenopausal women – effect of CYP19A1, PPARG and PPARGC1A polymorphisms on female sex-hormone levels and interaction with alcohol consumption and NSAID usage in a nested case-control study and a randomised controlled trial

    International Nuclear Information System (INIS)

    Kopp, Tine Iskov; Jensen, Ditte Marie; Ravn-Haren, Gitte; Cohen, Arieh; Sommer, Helle Molgaard; Dragsted, Lars Ove; Tjonneland, Anne; Hougaard, David Michael; Vogel, Ulla

    2016-01-01

    Alcohol consumption is associated with increased risk of breast cancer (BC), and the underlying mechanism is thought to be sex-hormone driven. In vitro and observational studies suggest a mechanism involving peroxisome proliferator-activated receptor gamma (PPARγ) in a complex with peroxisome proliferator-activated receptor gamma coactivator 1-α (PGC-1α) and interaction with aromatase (encoded by CYP19A1). Use of non-steroidal anti-inflammatory drugs (NSAID) may also affect circulating sex-hormone levels by modifying PPARγ activity. In the present study we assessed whether genetic variation in CYP19A1 is associated with risk of BC in a case-control study group nested within the Danish “Diet, Cancer and Health” cohort (n cases = 687 and n controls = 687) and searched for gene-gene interaction between CYP19A1 and PPARGC1A, and CYP19A1 and PPARG, and gene-alcohol and gene-NSAID interactions. Association between the CYP19A1 polymorphisms and hormone levels was also examined among 339 non-HRT users. Incidence rate ratios were calculated based on Cox’ proportional hazards model. Furthermore, we performed a pilot randomised controlled trial to determine the effect of the PPARG Pro 12 Ala polymorphism and the PPARγ stimulator Ibuprofen on sex-hormone levels following alcohol intake in postmenopausal women (n = 25) using linear regression. Genetic variations in CYP19A1 were associated with hormone levels (estrone: P rs11070844 = 0.009, estrone sulphate: P rs11070844 = 0.01, P rs749292 = 0.004, P rs1062033 = 0.007 and P rs10519297 = 0.03, and sex hormone-binding globulin (SHBG): P rs3751591 = 0.03) and interacted with alcohol intake in relation to hormone levels (estrone sulphate: P interaction/rs2008691 = 0.02 and P interaction/rs1062033= 0.03, and SHBG: P interaction/rs11070844 = 0.03). CYP19A1/rs3751591 was both associated with SHBG levels (P = 0.03) and with risk of BC (Incidence Rate Ratio = 2.12; 95 % Confidence Interval: 1.02–4.43) such that homozygous

  17. Mobile Phone Technology to Increase Genetic Counseling for Women with Ovarian Cancer and Their Families

    Science.gov (United States)

    2015-06-01

    Development- Graphic Designer Milestone: Creation of usual care brochure , logo, and other graphics for ll/2014 50 intervention. Subtask 4d...Participants will be randomized using a list created by the statistician. All women will receive a pamphlet on hereditary cancer risk and genetic

  18. Integrated screening concept in women with genetic predisposition for breast cancer

    International Nuclear Information System (INIS)

    Bick, U.

    1997-01-01

    Breast cancer is in 5% of cases due to a genetic disposition. BRCA1 and BRCA2 are by far the most common breast cancer susceptibility genes. For a woman with a genetic predisposition, the individual risk of developing breast cancer sometime in her life is between 70 and 90%. Compared to the spontaneous forms of breast cancer, woman with a genetic predisposition often develop breast cancer at a much younger age. This is why conventional screening programs on the basis of mammography alone cannot be applied without modification to this high-risk group. In this article, an integrated screening concept for women with genetic prodisposition for breast cancer using breast self-examination, clinical examination, ultrasound, mammography and magnetic resonance imaging is introduced. (orig.) [de

  19. Genetic risk scores for body fat distribution attenuate weight loss in women during dietary intervention

    DEFF Research Database (Denmark)

    Svendstrup, M; Allin, K H; Sørensen, T I A

    2018-01-01

    to lose weight. We aimed to study the effect of weighted genetic risk scores (GRSs) on weight loss based on single-nucleotide polymorphisms (SNPs) associated with waist-hip-ratio adjusted for body mass index (WHRadjBMI). METHOD: We included 707 participants (533 women and 174 men) from the NUGENOB multi......-center 10 week diet intervention study with weekly weight measurements. We created 3 GRSs, one including all reported WHRadjBMI SNPs (GRStotal), one including only SNPs with genome wide significance in women or with significantly greater effect in women (GRSwomen), and one excluding SNPs in the GRSwomen...... (GRSmen). The data was analyzed in a mixed linear model framework. RESULTS: The GRStotal and GRSwomen attenuated weight loss in women. The effect was strongest for the GRSwomen with an effect of 2.21 g/risk allele/day [95% CI (0.90;3.52), P=0.0009]. Adjustment for WHR, basal metabolic rate or diet...

  20. Prediction of breast cancer risk based on common genetic variants in women of East Asian ancestry.

    Science.gov (United States)

    Wen, Wanqing; Shu, Xiao-Ou; Guo, Xingyi; Cai, Qiuyin; Long, Jirong; Bolla, Manjeet K; Michailidou, Kyriaki; Dennis, Joe; Wang, Qin; Gao, Yu-Tang; Zheng, Ying; Dunning, Alison M; García-Closas, Montserrat; Brennan, Paul; Chen, Shou-Tung; Choi, Ji-Yeob; Hartman, Mikael; Ito, Hidemi; Lophatananon, Artitaya; Matsuo, Keitaro; Miao, Hui; Muir, Kenneth; Sangrajrang, Suleeporn; Shen, Chen-Yang; Teo, Soo H; Tseng, Chiu-Chen; Wu, Anna H; Yip, Cheng Har; Simard, Jacques; Pharoah, Paul D P; Hall, Per; Kang, Daehee; Xiang, Yongbing; Easton, Douglas F; Zheng, Wei

    2016-12-08

    Approximately 100 common breast cancer susceptibility alleles have been identified in genome-wide association studies (GWAS). The utility of these variants in breast cancer risk prediction models has not been evaluated adequately in women of Asian ancestry. We evaluated 88 breast cancer risk variants that were identified previously by GWAS in 11,760 cases and 11,612 controls of Asian ancestry. SNPs confirmed to be associated with breast cancer risk in Asian women were used to construct a polygenic risk score (PRS). The relative and absolute risks of breast cancer by the PRS percentiles were estimated based on the PRS distribution, and were used to stratify women into different levels of breast cancer risk. We confirmed significant associations with breast cancer risk for SNPs in 44 of the 78 previously reported loci at P women in the middle quintile of the PRS, women in the top 1% group had a 2.70-fold elevated risk of breast cancer (95% CI: 2.15-3.40). The risk prediction model with the PRS had an area under the receiver operating characteristic curve of 0.606. The lifetime risk of breast cancer for Shanghai Chinese women in the lowest and highest 1% of the PRS was 1.35% and 10.06%, respectively. Approximately one-half of GWAS-identified breast cancer risk variants can be directly replicated in East Asian women. Collectively, common genetic variants are important predictors for breast cancer risk. Using common genetic variants for breast cancer could help identify women at high risk of breast cancer.

  1. Genetic liability to disability pension in women and men: a prospective population-based twin study.

    Directory of Open Access Journals (Sweden)

    Jurgita Narusyte

    Full Text Available BACKGROUND: Previous studies of risk factors for disability pension (DP have mainly focused on psychosocial, or environmental, factors, while the relative importance of genetic effects has been less studied. Sex differences in biological mechanisms have not been investigated at all. METHODS: The study sample included 46,454 Swedish twins, consisting of 23,227 complete twin pairs, born 1928-1958, who were followed during 1993-2008. Data on DP, including diagnoses, were obtained from the National Social Insurance Agency. Within-pair similarity in liability to DP was assessed by calculating intraclass correlations. Genetic and environmental influences on liability to DP were estimated by applying discrete-time frailty modeling. RESULTS: During follow-up, 7,669 individuals were granted DP (18.8% women and 14.1% men. Intraclass correlations were generally higher in MZ pairs than DZ pairs, while DZ same-sexed pairs were more similar than opposite-sexed pairs. The best-fitting model indicated that genetic factors contributed 49% (95% CI: 39-59 to the variance in DP due to mental diagnoses, 35% (95% CI: 29-41 due to musculoskeletal diagnoses, and 27% (95% CI: 20-33 due to all other diagnoses. In both sexes, genetic effects common to all ages explained one-third, whereas age-specific factors almost two-thirds, of the total variance in liability to DP irrespective of diagnosis. Sex differences in liability to DP were indicated, in that partly different sets of genes were found to operate in women and men, even though the magnitude of genetic variance explained was equal for both sexes. CONCLUSIONS: The findings of the study suggest that genetic effects are important for liability to DP due to different diagnoses. Moreover, genetic contributions to liability to DP tend to differ between women and men, even though the overall relative contribution of genetic influences does not differ by sex. Hence, the pathways leading to DP might differ between women and

  2. Genetic polymorphism rs3760396 of the chemokine (C-C motif) ligand 2 gene (CCL2) associated with the susceptibility of lung cancer in a pathological subtype-specific manner in Han-ancestry Chinese: a case control study

    International Nuclear Information System (INIS)

    Li, Xu; Lin, Fangcai; Zhou, Hong

    2016-01-01

    Chemokines are well known inflammatory factors critical for tumor development in diverse tissues, including lung cancer. Chemokine (C-C motif) Ligand 2 (CCL2) was one of such chemokines important for both primary tumor development and metastasis of various cancers. Polymorphism at rs3760396 of CCL2 genes is associated with the prognosis of non-small cell lung cancer (NSCLC). The goal of our study was to examine the relationship of genetic polymorphisms rs3760396 with the susceptibility of lung cancer and its pathological subtypes in Han-ancestry Chinese population. rs3760396 G/C polymorphism of CCL2 was genotyped using PCR in 394 patients with lung cancer and 545 cancer-free controls from the same Northeast region of China. After controlling for gender, age and smoking status, no significant association was observed between rs3760396 polymorphism and overall lung cancer. However, minor allele G of rs3760396 polymorphism was significantly associated with increased risk of adenosquamous lung carcinoma with either allelic genetic model (OR = 5.29, P < 0.001), or dominant genetic model (OR = 9.88, P < 0.001), or genotypic model (GC genotype vs. CC genotype, OR = 10.73, P < 0.001). Although rs3760396 polymorphism was not significantly associated with increased risk of adenocarcinoma subtype, it was nominally associated with the pooled outcome of either adenocarcinoma or adenosquamous carcinoma under allelic genetic model (OR = 1.54, P = 0.023) or dominant genetic model (OR = 1.57, P = 0.031). Our study suggested rs3760396 polymorphism of CCL2 is associated not only with prognosis of NSCLC, but also with risk of lung cancer in a subtype-specific manner. Our results further supported previous evidence of the important role of CCL2 in lung cancer development

  3. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

    DEFF Research Database (Denmark)

    Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte

    2010-01-01

    AIMS: Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically te...... therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women....

  4. Genetic polymorphisms of PPAR gamma, arsenic methylation capacity and breast cancer risk in Mexican women.

    Science.gov (United States)

    Pineda-Belmontes, Cristina P; Hernández-Ramírez, Raúl U; Hernández-Alcaraz, César; Cebrián, Mariano E; López-Carrillo, Lizbeth

    2016-04-01

    To evaluate whether the presence of polymorphisms of peroxisome proliferator-activated receptor gamma PPARγ (Pro 1 2Ala) and PPARGC1B (Ala203Pro) modifies the association between the inorganic arsenic (iAs) methylation capacity and breast cancer (BC). Mexican women were interviewed, and blood and urine samples were collected from them (cases/controls= 197/220). The concentration of urinary arsenic species and the polymorphisms of interest were determined by high-performance liquid chromatography with inductively coupled plasma mass spectrometry (HPLC-ICP-MS) and polymerase chain reaction (PCR), respectively. In women with a high %MMA (urinary monomethyl arsenic) and high primary methylation ratio (PM = MMA/iAs), the risk of BC was increased (odds ratio [OR]%MMA T3 vs.T1= 3.60: 95% confidence interval [CI] 2.02-6.41, ORPMI T3 vs.T1= 3.47: 95%CI 1.95-6.17), which was maintained after adjusting for polymorphisms. No significant interactions were observed between the polymorphisms and the arsenic variables on the risk of BC. Pro 12Ala and Ala203Pro polymorphisms did not modify the association between the iAs methylation capacity and BC.

  5. Lack of association of C282Y and H63D mutations in the hemochromatosis (HFE) gene with diabetes mellitus type 2 in a case-control study of women in Brazil.

    Science.gov (United States)

    Gomes, K B; Carvalho, M G; Coelho, F F; Rodrigues, I F; Soares, A L; Guimarães, D A; Fernandes, A P

    2009-10-27

    Hereditary hemochromatosis is one of the most common autosomal recessive diseases; it is characterized by excess absorption of iron. Clinically, the major challenge is to diagnose increased iron deposition before irreversible tissue damage has occurred. C282Y and H63D are the main mutations related to hereditary hemochromatosis; these mutations have been reported to be associated with increased risk of developing diabetes mellitus type 2 (DM2). We investigated whether these mutations are associated with increased risk for the development of DM2 in women in Brazil. Seventy-two women with clinical diagnosis of DM2 under treatment with hypoglycemic agents and a control group composed of 72 women with no clinical history of diabetes were studied. The C282Y and H63D mutations were determined by PCR-RFLP. Significant differences were not observed for C282Y and H63D, when we compared diabetic and non-diabetic women. We suggest that mutations C282Y and H63D in the HFE gene are not significant risk factors for the development of DM2 in Brazilian women.

  6. What is healthy work for women and men? - A case-control study of gender- and sector-specific effects of psycho-social working conditions on long-term sickness absence.

    Science.gov (United States)

    Lidwall, Ulrik; Marklund, Staffan

    2006-01-01

    The aim of the study was to investigate the relevance of the demand-control model and social support in predicting long-term sickness absence (LTSA). Identifying gender- and sector- (private vs. public) specific patterns was in focus. The study uses a cross-sectional design with a case and a control group. The cases are a sample of 2 327 long-term sick listed (>60 days) and the controls are a Swedish population-based sample of 2 063. Data on sickness absence were retrieved from the Swedish national social insurance registers. Data on health, working and living conditions were gathered through a self-administered questionnaire. The results show that employed women have a notably higher risk for LTSA than employed men. High-strain jobs increase the odds for LTSA among both women and men. Active jobs were also associated with LTSA among women. The study confirms the demand-control model (job strain hypothesis) and social support and their associations with LTSA. However, the job strain hypothesis is more evident in the private sector. Active jobs with high psychological demands and high decision latitude seem to be problematic for many women, especially in the private sector. Thus, the active learning hypothesis receives no support for women in the Swedish working population in general.

  7. Decision-making about prenatal genetic testing among pregnant Korean-American women.

    Science.gov (United States)

    Jun, Myunghee; Thongpriwan, Vipavee; Choi, Jeeyae; Sook Choi, Kyung; Anderson, Gwen

    2018-01-01

    to understand the prenatal genetic testing decision-making processes among pregnant Korean-American women. a qualitative, descriptive research design. referrals and snowball sampling techniques were used to recruit 10 Korean-American women who had been recommended for amniocentesis during pregnancy in the United States (U.S.). All participants were born in Korea and had immigrated to the U.S. The number of years living in the U.S. ranged from 4 to 11 (M=5.7). various regional areas of the U.S. the researchers conducted face-to-face or phone interviews using semi-structured interview guides. The interviews were conducted in the Korean language and lasted approximately 50-100minutes. The interview guides focused on the decision-making process and experiences with prenatal genetic testing, as well as reflections on the decisions. Four core themes emerged related to the participants' decision-making processes, according to their descriptions. These themes are (1) facing the challenges of decision-making, (2) seeking support, (3) determining one's preferred role in the decision-making process, and (4) feeling uncomfortable with the degree of patient autonomy in U.S. health care. researchers concluded that many distinctive factors influence the decision-making processes used by pregnant Korean-American women. The results have the potential to improve shared decision-making practices regarding prenatal genetic testing. clinicians need to understand the sociocultural underpinnings of pregnant Korean-American immigrants regarding prenatal genetic screening and testing as an initial step to engage these patients in shared decision-making. Published by Elsevier Ltd.

  8. Women-specific risk factors for heart failure: A genetic approach.

    Science.gov (United States)

    van der Kemp, Jet; van der Schouw, Yvonne T; Asselbergs, Folkert W; Onland-Moret, N Charlotte

    2018-03-01

    Heart failure is a complex disease, which is presented differently by men and women. Several studies have shown that reproductive factors, such as age at natural menopause, parity and polycystic ovarian syndrome (PCOS), may play a role in the development of heart failure. Shared genetics may provide clues to underlying mechanisms; however, this has never been examined. Therefore, the aim of the current study was to explore whether any reproductive factor is potentially related to heart failure in women, based on genetic similarities. Conducting a systematic literature review, single nucleotide polymorphisms (SNPs) associated with reproductive factors, heart failure and its risk factors were extracted from recent genome-wide association studies. We tested whether there was any overlap between the SNPs and their proxies of reproductive risk factors with those known for heart failure or its risk factors. In total, 520 genetic variants were found that are associated with reproductive factors, namely age at menarche, age at natural menopause, menstrual cycle length, PCOS, preeclampsia, preterm delivery and spontaneous dizygotic twinning. For heart failure and associated phenotypes, 25 variants were found. Genetic variants for reproductive factors did not overlap with those for heart failure. However, age at menarche, gestational diabetes and PCOS were found to be genetically linked to risk factors for heart failure, such as atrial fibrillation, diabetes and smoking. Corresponding implicated genes, such as TNNI3K, ErbB3, MKL2, MTNR1B and PRKD1, may explain the associations between reproductive factors and heart failure. Exact effector mechanisms of these genes remain to be investigated further. Copyright © 2017. Published by Elsevier B.V.

  9. Assessment of genetic risk of exposure resulted from X-ray examination of women of the reproductive age

    International Nuclear Information System (INIS)

    Strel'nikova, N.K.

    1989-01-01

    On the basis of the available data an evaluation of genetic radiation risk during roentgenologic examination of women of the reproductive age is presented. It is demonstrated that the degree of genetic risk depends on woman's age at the moment of the roentgenologic examination and the amount of the gonadal dose. Identification of the high-risk exposed populations has been substantiated

  10. Preimplantation genetic screening in older women: a cost-effectiveness analysis.

    Science.gov (United States)

    Mersereau, Jennifer E; Plunkett, Beth A; Cedars, Marcelle I

    2008-09-01

    To compare the strategy of traditional IVF with prenatal diagnosis versus IVF with preimplantation genetic screening (IVF/PGS) to prevent aneuploid births in women with advanced maternal age. A decision tree analytic model was created to compare IVF alone versus IVF/PGS to evaluate which strategy is the least costly per healthy (euploid) infant. Outpatient IVF practices. Infertile women, 38-40 and >40 years old. IVF or IVF/PGS. Cost per healthy infant. Using base-case estimates of costs and probabilities in women aged 38-40 years, after a maximum of two fresh IVF cycles and two frozen cycles, the chance of having a healthy infant was 37.8% with IVF alone versus 21.7% with IVF/PGS. The average cost for each strategy is $25,700, but the cost per healthy infant is substantially higher when IVF/PGS is applied as opposed to IVF alone ($118,713 vs. $68,026). To assess the robustness of the model, all probabilities were varied simultaneously in a Monte Carlo simulation, and in 96.2% of trials, IVF alone proved to be the most cost-effective option. Conversely, our data demonstrate that in women aged >40, IVF and IVF/PGS are essentially equal in terms of cost-effectiveness ($122,000 vs. $118,713). IVF alone is less costly per healthy infant than IVF/PGS in women ages 38-40.

  11. Hepatitis C virus prevalence and genetic diversity among pregnant women in Gabon, central Africa

    Directory of Open Access Journals (Sweden)

    Mahé Antoine

    2008-06-01

    Full Text Available Abstract Background Hepatitis C virus (HCV infection is a major global public health problem in both developed and developing countries. The prevalence and genetic diversity of HCV in pregnant women in Gabon, central Africa, is not known. We therefore evaluated the prevalence and the circulating genotypes of HCV in a large population cohort of pregnant women. Methods Blood samples (947 were collected from pregnant women in the five main cities of the country. The prevalence was evaluated by two ELISA tests, and the circulating genotypes were characterized by sequencing and phylogenetic analysis. Results Twenty pregnant women (2.1% were infected with HCV. The seroprevalence differed significantly by region (p = 0.004 and increased significantly with age (p = 0.05, being 1.3% at 14–20 years, 1.1% at 21–25 years, 1.9% at 26–30 years, 4.1% at 31–35 years and 6.0% at > 35 years. Sequencing in the 5'-UTR and NS5B regions showed that the circulating strains belonged to genotypes 4 (4e and 4c. Conclusion We found that the HCV seroprevalence in pregnant women in Gabon is almost as high as that in other African countries and increases with age. Furthermore, only genotype 4 (4e and 4c was found. More extensive studies aiming to evaluate the prevalence and heterogeneity of HCV genotypes circulating in the general population of the country are needed.

  12. Evaluation of the impact of genetic polymorphisms in glutathione-related genes on the association between methylmercury or n-3 polyunsaturated long chain fatty acids and risk of myocardial infarction: a case-control study

    Directory of Open Access Journals (Sweden)

    Norberg Margareta

    2011-04-01

    Full Text Available Abstract Background The n-3 polyunsaturated fatty acids eicosapentaenoic acid and docosahexaenoic acid, which are present in fish, are protective against myocardial infarction. However, fish also contains methylmercury, which influences the risk of myocardial infarction, possibly by generating oxidative stress. Methylmercury is metabolized by conjugation to glutathione, which facilitates elimination. Glutathione is also an antioxidant. Individuals with certain polymorphisms in glutathione-related genes may tolerate higher exposures to methylmercury, due to faster metabolism and elimination and/or better glutathione-associated antioxidative capacity. They would thus benefit more from the protective agents in fish, such as eicosapentaenoic+docosahexaenoic acid and selenium. The objective for this study was to elucidate whether genetic polymorphisms in glutathione-related genes modify the association between eicosapentaenoic+docosahexaenoic acid or methylmercury and risk of first ever myocardial infarction. Methods Polymorphisms in glutathione-synthesizing (glutamyl-cysteine ligase catalytic subunit, GCLC and glutamyl-cysteine ligase modifier subunit, GCLM or glutathione-conjugating (glutathione S-transferase P, GSTP1 genes were genotyped in 1027 individuals from northern Sweden (458 cases of first-ever myocardial infarction and 569 matched controls. The impact of these polymorphisms on the association between erythrocyte-mercury (proxy for methylmercury and risk of myocardial infarction, as well as between plasma eicosapentaenoic+docosahexaenoic acid and risk of myocardial infarction, was evaluated by conditional logistic regression. The effect of erythrocyte-selenium on risk of myocardial infarction was also taken into consideration. Results There were no strong genetic modifying effects on the association between plasma eicosapentaenoic+docosahexaenoic acid or erythrocyte-mercury and risk of myocardial infarction risk. When eicosapentaenoic

  13. A population-based survey in Australia of men's and women's perceptions of genetic risk and predictive genetic testing and implications for primary care.

    Science.gov (United States)

    Taylor, S

    2011-01-01

    Community attitudes research regarding genetic issues is important when contemplating the potential value and utilisation of predictive testing for common diseases in mainstream health services. This article aims to report population-based attitudes and discuss their relevance to integrating genetic services in primary health contexts. Men's and women's attitudes were investigated via population-based omnibus telephone survey in Queensland, Australia. Randomly selected adults (n = 1,230) with a mean age of 48.8 years were interviewed regarding perceptions of genetic determinants of health; benefits of genetic testing that predict 'certain' versus 'probable' future illness; and concern, if any, regarding potential misuse of genetic test information. Most (75%) respondents believed genetic factors significantly influenced health status; 85% regarded genetic testing positively although attitudes varied with age. Risk-based information was less valued than certainty-based information, but women valued risk information significantly more highly than men. Respondents reported 'concern' (44%) and 'no concern' (47%) regarding potential misuse of genetic information. This study contributes important population-based data as most research has involved selected individuals closely impacted by genetic disorders. While community attitudes were positive regarding genetic testing, genetic literacy is important to establish. The nature of gender differences regarding risk perception merits further study and has policy and service implications. Community concern about potential genetic discrimination must be addressed if health benefits of testing are to be maximised. Larger questions remain in scientific, policy, service delivery, and professional practice domains before predictive testing for common disorders is efficacious in mainstream health care. Copyright © 2011 S. Karger AG, Basel.

  14. Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

    Science.gov (United States)

    Randall, Leslie M; Pothuri, Bhavana; Swisher, Elizabeth M; Diaz, John P; Buchanan, Adam; Witkop, Catherine T; Bethan Powell, C; Smith, Ellen Blair; Robson, Mark E; Boyd, Jeff; Coleman, Robert L; Lu, Karen

    2017-08-01

    To assess current practice, advise minimum standards, and identify educational gaps relevant to genetic screening, counseling, and testing of women affected by gynecologic cancers. The Society of Gynecologic Oncology (SGO) organized a multidisciplinary summit that included representatives from the American College of Obstetricians and Gynecologists (ACOG), the American Society Clinical Oncology (ASCO), the National Society of Genetic Counselors (NSGC), and patient advocacy groups, BrightPink and Facing our Risk of Cancer Empowered (FORCE). Three subject areas were discussed: care delivery models for genetic testing, barriers to genetic testing, and educational opportunities for providers of genetic testing. The group endorsed current SGO, National Comprehensive Cancer Network (NCCN), and NSGC genetic testing guidelines for women affected with ovarian, tubal, peritoneal cancers, or DNA mismatch repair deficient endometrial cancer. Three main areas of unmet need were identified: timely and universal genetic testing for women with ovarian, fallopian tube, and peritoneal cancers; education regarding minimum standards for genetic counseling and testing; and barriers to implementation of testing of both affected individuals as well as cascade testing of family members. Consensus building among all stakeholders resulted in an action plan to address gaps in education of gynecologic oncology providers and delivery of cancer genetics care. Copyright © 2017. Published by Elsevier Inc.

  15. Genetics, drugs and environmental factors in Parkinson's disease: a case-control study Genética, medicamentos e fatores do meio ambiente na doença de Parkinson

    Directory of Open Access Journals (Sweden)

    ANTONIO LUIZ DOS SANTOS WERNECK

    1999-06-01

    Full Text Available A case-control study of Parkinson's disease (PD was conducted in the city of Rio de Janeiro based on the assumption that neurotoxins with secondary parkinsonian action may be related to the development of Parkinson's disease. Ninety-two subjects with PD and 110 controls were queried through a questionnaire in order to investigate possible risk factors for the disease. The following factors were studied: herbicides/pesticides, exposure to chemicals, ingestion of drugs with secondary PD effects, rural life, water well source, family history, cranial trauma and cigarette smoking. Study of mentioned factors was achieved through univariate, stratified and multivariate analyses. Univariate and multivariate analyses demonstrated that PD was positively associated with family history (OR = 14.5; CI = 2.98 - 91.38, with the use of drugs with secondary PD action (OR = 11.01; CI = 3.41 - 39.41 and with exposure to chemical agents (OR = 5.87; CI = 1.48 - 27.23. PD was found to be inversely associated with cigarette smoking (OR = 0.39; IC = 0.16 - 0.95. Stratified analysis only confirmed family history and drug use, besides demonstrating that cigarette consumption could be a protection factor, when aforementioned factors were involved. This study might be a warning as to the cares that need to be taken regarding drug use and occupational exposure to chemical agents, as both types of substances present secondary PD action.Um estudo caso-controle foi realizado na cidade do Rio de Janeiro, partindo-se do pressuposto de que neurotoxinas com ação parkinsoniana secundária poderiam facilitar a ocorrência da doença de Parkinson. Noventa e dois pacientes com doença de Parkinson e 110 controles foram avaliados através de questionário para a investigação de possíveis fatores de risco para a doença. Foram pesquisados os seguintes fatores: herbicidas e pesticidas, exposição a agentes químicos, uso de medicamentos com ação parkinsoniana secundária, vida

  16. Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

    Directory of Open Access Journals (Sweden)

    Umaima Al-Alem

    Full Text Available Non-Hispanic (nH Black and Hispanic women are disproportionately affected by early onset disease, later stage, and with more aggressive, higher grade and ER/PR negative breast cancers. The purpose of this analysis was to examine whether genetic ancestry could account for these variation in breast cancer characteristics, once data were stratified by self-reported race/ethnicity and adjusted for potential confounding by social and behavioral factors.We used a panel of 100 ancestry informative markers (AIMs to estimate individual genetic ancestry in 656 women from the "Breast Cancer Care in Chicago" study, a multi-ethnic cohort of breast cancer patients to examine the association between individual genetic ancestry and breast cancer characteristics. In addition we examined the association of individual AIMs and breast cancer to identify genes/regions that may potentially play a role in breast cancer disease disparities.As expected, nH Black and Hispanic patients were more likely than nH White patients to be diagnosed at later stages, with higher grade, and with ER/PR negative tumors. Higher European genetic ancestry was protective against later stage at diagnosis (OR 0.7 95%CI: 0.54-0.92 among Hispanic patients, and higher grade (OR 0.73, 95%CI: 0.56-0.95 among nH Black patients. After adjustment for multiple social and behavioral risk factors, the association with later stage remained, while the association with grade was not significant. We also found that the AIM SNP rs10954631 on chromosome 7 was associated with later stage (p = 0.02 and higher grade (p = 0.012 in nH Whites and later stage (p = 0.03 in nH Blacks.Non-European genetic ancestry was associated with later stage at diagnosis in ethnic minorities. The relation between genetic ancestry and stage at diagnosis may be due to genetic factors and/or unmeasured environmental factors that are overrepresented within certain racial/ethnic groups.

  17. Next generation sequencing for preimplantation genetic testing of blastocysts aneuploidies in women of different ages

    Directory of Open Access Journals (Sweden)

    Krzysztof Lukaszuk

    2015-12-01

    Full Text Available Most of the current preimplantation genetic screening of aneuploidies tests are based on the low quality and low density comparative genomic hybridization arrays. The results are based on fewer than 2,700 probes. Our main outcome was the association of aneuploidy rates and the women’s age. Between August–December 2013, 198 blastocysts from women (mean age 36.3+-4.6 undergoing in vitro fertilization underwent routine trophectoderm biopsy. NGS was performed on Ion Torrent PGM (Life Technologies. The results were analyzed in five age groups ( 40. 85 blastocysts were normal according to NGS results. The results in the investigated groups were (% of normal blastocyst in each group: 40 (38.5%. Our study suggests that NGS PGD is applicable for routine preimplantation genetic testing. It allows also for easy customization of the procedure for each individual patient making personalized diagnostics a reality.

  18. Attitudes Towards Prenatal Genetic Counseling, Prenatal Genetic Testing, and Termination of Pregnancy among Southeast and East Asian Women in the United States.

    Science.gov (United States)

    Tsai, Ginger J; Cameron, Carrie A; Czerwinski, Jennifer L; Mendez-Figueroa, Hector; Peterson, Susan K; Noblin, Sarah Jane

    2017-10-01

    Recognizing the heterogeneity of the Asian population with regards to acculturation, education, health awareness, and cultural values is vital for tailoring culturally sensitive and appropriate care. Prior studies show that cultural values influence perceptions of genetics within Asian populations. The reputation of the family unit factors into decisions such as pregnancy termination and disclosure of family medical history, and the nondirective model of American genetic counseling may conflict with the historical Asian model of paternalistic health care. Previous studies also provide conflicting evidence regarding correlations between education, acculturation, age, and awareness and perceptions of genetic testing. The aims of this study were to describe attitudes towards prenatal genetics among Southeast and East Asian women living in the United States for varying amounts of time and to explore sociocultural factors influencing those attitudes. Twenty-three Asian women who were members of Asian cultural organizations in the United States were interviewed via telephone about their attitudes towards prenatal genetic counseling, prenatal genetic testing, and termination of pregnancy. Responses were transcribed and coded for common themes using a thematic analysis approach. Four major themes emerged. In general, participants: (1) had diverse expectations for genetic counselors; (2) tended to weigh risks and benefits with regards to genetic testing decisions; (3) had mixed views on termination for lethal and non-lethal genetic conditions; and (4) identified cultural factors which influenced testing and termination such as lack of available resources, societal shame and stigma, and family pressure. These findings may allow prenatal genetic counselors to gain a richer, more nuanced understanding of their Asian patients and to offer culturally tailored prenatal genetic counseling.

  19. Case-control studies in neurosurgery.

    Science.gov (United States)

    Nesvick, Cody L; Thompson, Clinton J; Boop, Frederick A; Klimo, Paul

    2014-08-01

    Observational studies, such as cohort and case-control studies, are valuable instruments in evidence-based medicine. Case-control studies, in particular, are becoming increasingly popular in the neurosurgical literature due to their low cost and relative ease of execution; however, no one has yet systematically assessed these types of studies for quality in methodology and reporting. The authors performed a literature search using PubMed/MEDLINE to identify all studies that explicitly identified themselves as "case-control" and were published in the JNS Publishing Group journals (Journal of Neurosurgery, Journal of Neurosurgery: Pediatrics, Journal of Neurosurgery: Spine, and Neurosurgical Focus) or Neurosurgery. Each paper was evaluated for 22 descriptive variables and then categorized as having either met or missed the basic definition of a case-control study. All studies that evaluated risk factors for a well-defined outcome were considered true case-control studies. The authors sought to identify key features or phrases that were or were not predictive of a true case-control study. Those papers that satisfied the definition were further evaluated using the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist. The search detected 67 papers that met the inclusion criteria, of which 32 (48%) represented true case-control studies. The frequency of true case-control studies has not changed with time. Use of odds ratios (ORs) and logistic regression (LR) analysis were strong positive predictors of true case-control studies (for odds ratios, OR 15.33 and 95% CI 4.52-51.97; for logistic regression analysis, OR 8.77 and 95% CI 2.69-28.56). Conversely, negative predictors included focus on a procedure/intervention (OR 0.35, 95% CI 0.13-0.998) and use of the word "outcome" in the Results section (OR 0.23, 95% CI 0.082-0.65). After exclusion of nested case-control studies, the negative correlation between focus on a procedure

  20. Gender Differences in the VDR-FokI Polymorphism and Conventional Non-Genetic Risk Factors in Association with Lumbar Spine Pathologies in an Italian Case-Control Study

    Science.gov (United States)

    Colombini, Alessandra; Brayda-Bruno, Marco; Ferino, Lucia; Lombardi, Giovanni; Maione, Vincenzo; Banfi, Giuseppe; Cauci, Sabina

    2015-01-01

    Recently, the FokI polymorphism (rs2228570) in the vitamin D receptor gene (VDR) and conventional risk factors were associated with spine disorders in the Italian population, but without gender analysis. Two-hundred and sixty-seven patients (149 males, 118 females) with lumbar spine disorders were assessed by magnetic resonance imaging (MRI) and 254 (127 males, 127 females) asymptomatic controls were enrolled. The exposure to putative risk factors was evaluated and FokI polymorphism was detected by PCR-restriction fragment length polymorphism (PCR-RFLP). An association between lumbar spine pathologies and higher than average age; overweight; family history; lower leisure physical activity; smoking habit; higher number of hours/day exposure to vibration and more sedentary or intense physical job demand was observed in male patients. In contrast, in females, only higher age, overweight, family history and lower leisure physical activity were risk factors. FF genotype was a 2-fold risk factor to develop discopathies and/or osteochondrosis concomitant with disc herniation for both gender patients, while heterozygous Ff was protective for females only. In males only ff genotype was protective for discopathies and/or osteochondrosis and F allele was a 2-fold risk factor for hernia; discopathies; discopathies and/or osteochondrosis. Sex-related differences in voluntary behaviors, exposure to environmental risks and genetic background could be crucial for a gender-differentiated management of patients with spine disorders. PMID:25671813

  1. Gender Differences in the VDR-FokI Polymorphism and Conventional Non-Genetic Risk Factors in Association with Lumbar Spine Pathologies in an Italian Case-Control Study

    Directory of Open Access Journals (Sweden)

    Alessandra Colombini

    2015-02-01

    Full Text Available Recently, the FokI polymorphism (rs2228570 in the vitamin D receptor gene (VDR and conventional risk factors were associated with spine disorders in the Italian population, but without gender analysis. Two-hundred and sixty-seven patients (149 males, 118 females with lumbar spine disorders were assessed by magnetic resonance imaging (MRI and 254 (127 males, 127 females asymptomatic controls were enrolled. The exposure to putative risk factors was evaluated and FokI polymorphism was detected by PCR-restriction fragment length polymorphism (PCR-RFLP. An association between lumbar spine pathologies and higher than average age; overweight; family history; lower leisure physical activity; smoking habit; higher number of hours/day exposure to vibration and more sedentary or intense physical job demand was observed in male patients. In contrast, in females, only higher age, overweight, family history and lower leisure physical activity were risk factors. FF genotype was a 2-fold risk factor to develop discopathies and/or osteochondrosis concomitant with disc herniation for both gender patients, while heterozygous Ff was protective for females only. In males only ff genotype was protective for discopathies and/or osteochondrosis and F allele was a 2-fold risk factor for hernia; discopathies; discopathies and/or osteochondrosis. Sex-related differences in voluntary behaviors, exposure to environmental risks and genetic background could be crucial for a gender-differentiated management of patients with spine disorders.

  2. Genetic variation of the androgen receptor and risk of myocardial infarction and ischemic stroke in women.

    Science.gov (United States)

    Rexrode, Kathryn M; Ridker, Paul M; Hegener, Hillary H; Buring, Julie E; Manson, JoAnn E; Zee, Robert Y L

    2008-05-01

    Androgen receptors (AR) are expressed in endothelial cells and vascular smooth-muscle cells. Some studies suggest an association between AR gene variation and risk of cardiovascular disease (CVD) in men; however, the relationship has not been examined in women. Six haplotype block-tagging single nucleotide polymorphisms (rs962458, rs6152, rs1204038, rs2361634, rs1337080, rs1337082), as well as the cysteine, adenine, guanine (CAG) microsatellite in exon 1, of the AR gene were evaluated among 300 white postmenopausal women who developed CVD (158 myocardial infarctions and 142 ischemic strokes) and an equal number of matched controls within the Women's Health Study. Genotype distributions were similar between cases and controls, and genotypes were not significantly related to risk of CVD, myocardial infarctions or ischemic stroke in conditional logistic regression models. Seven common haplotypes were observed, but distributions did not differ between cases and controls nor were significant associations observed in logistic regression analysis. The median CAG repeat length was 21. In conditional logistic regression, there was no association between the number of alleles with CAG repeat length >or=21 (or >or=22) and risk of CVD, myocardial infarctions or ischemic stroke. No association between AR genetic variation, as measured by haplotype-tagging single nucleotide polymorphisms and CAG repeat number, and risk of CVD was observed in women.

  3. Genetic Determinants for Gestational Diabetes Mellitus and Related Metabolic Traits in Mexican Women

    Science.gov (United States)

    Huerta-Chagoya, Alicia; Vázquez-Cárdenas, Paola; Moreno-Macías, Hortensia; Tapia-Maruri, Leonardo; Rodríguez-Guillén, Rosario; López-Vite, Erika; García-Escalante, Guadalupe; Escobedo-Aguirre, Fernando; Parra-Covarrubias, Adalberto; Cordero-Brieño, Roberto; Manzo-Carrillo, Lizette; Zacarías-Castillo, Rogelio; Aguilar-Salinas, Carlos; Tusié-Luna, Teresa

    2015-01-01

    Epidemiological and physiological similarities among Gestational Diabetes Mellitus (GDM) and Type 2 Diabetes (T2D) suggest that both diseases, share a common genetic background. T2D risk variants have been associated to GDM susceptibility. However, the genetic architecture of GDM is not yet completely understood. We analyzed 176 SNPs for 115 loci previously associated to T2D, GDM and body mass index (BMI), as well as a set of 118 Ancestry Informative Markers (AIMs), in 750 pregnant Mexican women. Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotype (CTTC: rs7901695, rs4506565, rs7903146, rs12243326; P=2.16x10-06; OR=2.95) and a KCNQ1 haplotype (TTT: rs2237892, rs163184, rs2237897; P=1.98x10-05; OR=0.55). In addition, we found two loci associated to glycemic traits: CENTD2 (60’ OGTT glycemia: rs1552224, P=0.03727) and MTNR1B (HOMA B: rs1387153, P=0.05358). Remarkably, a major susceptibility SLC16A11 locus for T2D in Mexicans was not shown to play a role in GDM risk. The fact that two of the main T2D associated loci also contribute to the risk of developing GDM in Mexicans, confirm that both diseases share a common genetic background. However, lack of association with a Native American contribution T2D risk haplotype, SLC16A11, suggests that other genetic mechanisms may be in play for GDM. PMID:25973943

  4. Genetic determinants for gestational diabetes mellitus and related metabolic traits in Mexican women.

    Directory of Open Access Journals (Sweden)

    Alicia Huerta-Chagoya

    Full Text Available Epidemiological and physiological similarities among Gestational Diabetes Mellitus (GDM and Type 2 Diabetes (T2D suggest that both diseases, share a common genetic background. T2D risk variants have been associated to GDM susceptibility. However, the genetic architecture of GDM is not yet completely understood. We analyzed 176 SNPs for 115 loci previously associated to T2D, GDM and body mass index (BMI, as well as a set of 118 Ancestry Informative Markers (AIMs, in 750 pregnant Mexican women. Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotype (CTTC: rs7901695, rs4506565, rs7903146, rs12243326; P=2.16 x 10(-06; OR=2.95 and a KCNQ1 haplotype (TTT: rs2237892, rs163184, rs2237897; P=1.98 x 10(-05; OR=0.55. In addition, we found two loci associated to glycemic traits: CENTD2 (60' OGTT glycemia: rs1552224, P=0.03727 and MTNR1B (HOMA B: rs1387153, P=0.05358. Remarkably, a major susceptibility SLC16A11 locus for T2D in Mexicans was not shown to play a role in GDM risk. The fact that two of the main T2D associated loci also contribute to the risk of developing GDM in Mexicans, confirm that both diseases share a common genetic background. However, lack of association with a Native American contribution T2D risk haplotype, SLC16A11, suggests that other genetic mechanisms may be in play for GDM.

  5. Alcohol-related breast cancer in postmenopausal women - effect of CYP19A1, PPARG and PPARGC1A polymorphisms on female sex-hormone levels and interaction with alcohol consumption and NSAID usage in a nested case-control study and a randomised controlled trial

    DEFF Research Database (Denmark)

    Kopp, Tine Iskov; Jensen, Ditte Marie; Ravn-Haren, Gitte

    2016-01-01

    and the PPARγ stimulator Ibuprofen on sex-hormone levels following alcohol intake in postmenopausal women (n = 25) using linear regression. Genetic variations in CYP19A1 were associated with hormone levels (estrone: P rs11070844 = 0.009, estrone sulphate: P rs11070844 = 0.01, P rs749292 = 0.004, P rs1062033 = 0...

  6. The impact of genetic counselling on risk perception and mental health in women with a family history of breast cancer.

    Science.gov (United States)

    Watson, M; Lloyd, S; Davidson, J; Meyer, L; Eeles, R; Ebbs, S; Murday, V

    1999-02-01

    The present study investigated: (1) perception of genetic risk and, (2) the psychological effects of genetic counselling in women with a family history of breast cancer. Using a prospective design, with assessment pre- and post-genetic counselling at clinics and by postal follow-up at 1, 6 and 12 months, attenders at four South London genetic clinics were assessed. Participants included 282 women with a family history of breast cancer. Outcome was measured in terms of mental health, cancer-specific distress and risk perception. High levels of cancer-specific distress were found pre-genetic counselling, with 28% of participants reporting that they worried about breast cancer 'frequently or constantly' and 18% that worry about breast cancer was 'a severe or definite problem'. Following genetic counselling, levels of cancer-specific distress were unchanged. General mental health remained unchanged over time (33% psychiatric cases detected pre-genetic counselling, 27% at 12 months after genetic counselling). Prior to their genetics consultation, participants showed poor knowledge of their lifetime risk of breast cancer since there was no association between their perceived lifetime risk (when they were asked to express this as a 1 in x odds ratio) and their actual risk, when the latter was calculated by the geneticist at the clinic using the CASH model. In contrast, women were more accurate about their risk of breast cancer pre-genetic counselling when this was assessed in broad categorical terms (i.e. very much lower/very much higher than the average woman) with a significant association between this rating and the subsequently calculated CASH risk figure (P = 0.001). Genetic counselling produced a modest shift in the accuracy of perceived lifetime risk, expressed as an odds ratio, which was maintained at 12 months' follow-up. A significant minority failed to benefit from genetic counselling; 77 women continued to over-estimate their risk and maintain high levels of

  7. Ischemic stroke risk, smoking, and the genetics of inflammation in a biracial population: the stroke prevention in young women study

    OpenAIRE

    Cole, John W; Brown, David W; Giles, Wayne H; Stine, Oscar C; O'Connell, Jeffrey R; Mitchell, Braxton D; Sorkin, John D; Wozniak, Marcella A; Stern, Barney J; Sparks, Mary J; Dobbins, Mark T; Shoffner, Latasha T; Zappala, Nancy K; Reinhart, Laurie J; Kittner, Steven J

    2008-01-01

    Abstract Background Although cigarette smoking is a well-established risk factor for vascular disease, the genetic mechanisms that link cigarette smoking to an increased incidence of stroke are not well understood. Genetic variations within the genes of the inflammatory pathways are thought to partially mediate this risk. Here we evaluate the association of several inflammatory gene single nucleotide polymorphisms (SNPs) with ischemic stroke risk among young women, further stratified by curre...

  8. Vaginal versus Obstetric Infection Escherichia coli Isolates among Pregnant Women: Antimicrobial Resistance and Genetic Virulence Profile.

    Directory of Open Access Journals (Sweden)

    Emma Sáez-López

    Full Text Available Vaginal Escherichia coli colonization is related to obstetric infections and the consequent development of infections in newborns. Ampicillin resistance among E. coli strains is increasing, which is the main choice for treating empirically many obstetric and neonatal infections. Vaginal E. coli strains are very similar to extraintestinal pathogenic E. coli with regards to the virulence factors and the belonging to phylogroup B2. We studied the antimicrobial resistance and the genetic virulence profile of 82 E. coli isolates from 638 vaginal samples and 63 isolated from endometrial aspirate, placental and amniotic fluid samples from pregnant women with obstetric infections. The prevalence of E. coli in the vaginal samples was 13%, which was significant among women with associated risk factors during pregnancy, especially premature preterm rupture of membranes (p<0.0001. Sixty-five percent of the strains were ampicillin-resistant. The E. coli isolates causing obstetric infections showed higher resistance levels than vaginal isolates, particularly for gentamicin (p = 0.001. The most prevalent virulence factor genes were those related to the iron uptake systems revealing clear targets for interventions. More than 50% of the isolates belonged to the virulent B2 group possessing the highest number of virulence factor genes. The ampicillin-resistant isolates had high number of virulence factors primarily related to pathogenicity islands, and the remarkable gentamicin resistance in E. coli isolates from women presenting obstetric infections, the choice of the most appropriate empiric treatment and clinical management of pregnant women and neonates should be carefully made. Taking into account host-susceptibility, the heterogeneity of E. coli due to evolution over time and the geographical area, characterization of E. coli isolates colonizing the vagina and causing obstetric infections in different regions may help to develop interventions and avoid the

  9. Vaginal versus Obstetric Infection Escherichia coli Isolates among Pregnant Women: Antimicrobial Resistance and Genetic Virulence Profile.

    Science.gov (United States)

    Sáez-López, Emma; Guiral, Elisabet; Fernández-Orth, Dietmar; Villanueva, Sonia; Goncé, Anna; López, Marta; Teixidó, Irene; Pericot, Anna; Figueras, Francesc; Palacio, Montse; Cobo, Teresa; Bosch, Jordi; Soto, Sara M

    2016-01-01

    Vaginal Escherichia coli colonization is related to obstetric infections and the consequent development of infections in newborns. Ampicillin resistance among E. coli strains is increasing, which is the main choice for treating empirically many obstetric and neonatal infections. Vaginal E. coli strains are very similar to extraintestinal pathogenic E. coli with regards to the virulence factors and the belonging to phylogroup B2. We studied the antimicrobial resistance and the genetic virulence profile of 82 E. coli isolates from 638 vaginal samples and 63 isolated from endometrial aspirate, placental and amniotic fluid samples from pregnant women with obstetric infections. The prevalence of E. coli in the vaginal samples was 13%, which was significant among women with associated risk factors during pregnancy, especially premature preterm rupture of membranes (pinfections showed higher resistance levels than vaginal isolates, particularly for gentamicin (p = 0.001). The most prevalent virulence factor genes were those related to the iron uptake systems revealing clear targets for interventions. More than 50% of the isolates belonged to the virulent B2 group possessing the highest number of virulence factor genes. The ampicillin-resistant isolates had high number of virulence factors primarily related to pathogenicity islands, and the remarkable gentamicin resistance in E. coli isolates from women presenting obstetric infections, the choice of the most appropriate empiric treatment and clinical management of pregnant women and neonates should be carefully made. Taking into account host-susceptibility, the heterogeneity of E. coli due to evolution over time and the geographical area, characterization of E. coli isolates colonizing the vagina and causing obstetric infections in different regions may help to develop interventions and avoid the aetiological link between maternal carriage and obstetric and subsequent puerperal infections.

  10. Voluptuary habits and clinical subtypes of Parkinson's disease: the FRAGAMP case-control study.

    Science.gov (United States)

    Nicoletti, Alessandra; Pugliese, Pierfrancesco; Nicoletti, Giuseppe; Arabia, Gennarina; Annesi, Grazia; Mari, Michele De; Lamberti, Paolo; Grasso, Lucia; Marconi, Roberto; Epifanio, Antonio; Morgante, Letterio; Cozzolino, Autilia; Barone, Paolo; Torchia, Giusi; Quattrone, Aldo; Zappia, Mario

    2010-10-30

    We evaluated the possible association between smoking, coffee drinking, and alcohol consumption and Parkinson's disease (PD). The FRAGAMP study is a large Italian multicenter case-control study carried out to evaluate the possible role of environmental and genetic factors in PD. Adjusted ORs were estimated using unconditional logistic regression. Smoking, coffee, and alcohol consumption were also considered as surrogate markers of lifestyle and analysis was carried out considering the presence of at least one, two, or three factors. This latter analysis was separately performed considering Tremor-Dominant (TD) and Akinetic-Rigid (AR) patients. Four hundred ninety-two PD patients (292 men and 200 women) and 459 controls (160 men and 299 women) were enrolled in the study. Multivariate analysis showed a significant negative association between PD and cigarette smoking (OR 0.51; 95%CI 0.36-0.72), coffee drinking (OR 0.61; 95%CI 0.43-0.87) and wine consumption (OR 0.62; 95%CI 0.44-0.86); a significant trend dose-effect (P coffee, and alcohol consumption. When analysis was carried out considering the association of these factors as possible surrogate markers of a peculiar lifestyle the association was stronger for the AR phenotype.

  11. NEIGHBORHOOD CRIME AND DEPRESSIVE SYMPTOMS AMONG AFRICAN AMERICAN WOMEN: GENETIC MODERATION AND EPIGENETIC MEDIATOIN OF EFFECTS

    Science.gov (United States)

    Lei, Man-Kit; Beach, Steven R. H.; Simons, Ronald L.; Philibert, Robert A.

    2015-01-01

    Introduction Social scientists have long recognized the important role that neighborhood crime can play in stress-related disease, but very little is known about potential biosocial mechanisms that may link the experience of living in high-crime neighborhoods with depression. Objective The current study introduces an integrated model that combines neighborhood, genetic, and epigenetic factors. Methods Hypotheses were tested with a sample of 99 African American women from the Family and Community Health Study (FACHS). Results Allele variants of the serotonin transporter gene (5-HTT) interact with neighborhood crime to predict depressive symptoms in a manner consonant with the differential susceptibility perspective. Furthermore, this association is mediated by DNA methylation of the promoter region of the serotonin transporter gene. Conclusion The findings provide support for an integrated model in which changes in DNA methylation, resulting from neighborhood crime, can result in an increase or decrease in gene activity which, in turn, influences depressive symptoms. PMID:26513121

  12. Neighborhood crime and depressive symptoms among African American women: Genetic moderation and epigenetic mediation of effects.

    Science.gov (United States)

    Lei, Man-Kit; Beach, Steven R H; Simons, Ronald L; Philibert, Robert A

    2015-12-01

    Social scientists have long recognized the important role that neighborhood crime can play in stress-related disease, but very little is known about potential biosocial mechanisms that may link the experience of living in high-crime neighborhoods with depression. The current study introduces an integrated model that combines neighborhood, genetic, and epigenetic factors. Hypotheses were tested with a sample of 99 African American women from the Family and Community Health Study (FACHS). Allele variants of the serotonin transporter gene (5-HTT) interact with neighborhood crime to predict depressive symptoms in a manner consonant with the differential susceptibility perspective. Furthermore, this association is mediated by DNA methylation of the promoter region of the serotonin transporter gene. The findings provide support for an integrated model in which changes in DNA methylation, resulting from neighborhood crime, can result in an increase or decrease in gene activity which, in turn, influences depressive symptoms. Copyright © 2015 Elsevier Ltd. All rights reserved.

  13. The influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing for breast cancer among women of African descent.

    Science.gov (United States)

    Sussner, Katarina M; Thompson, Hayley S; Jandorf, Lina; Edwards, Tiffany A; Forman, Andrea; Brown, Karen; Kapil-Pair, Nidhi; Bovbjerg, Dana H; Schwartz, Marc D; Valdimarsdottir, Heiddis B

    2009-09-01

    Rising health disparities are increasingly evident in relation to use of genetic services (including genetic counseling and testing) for breast cancer risk, with women of African descent less likely to use genetic services compared with Whites. Meanwhile, little is known regarding potential within-group acculturation and psychological differences underlying perceived barriers to genetic testing among women of African descent. Hypothesized contributions of acculturation factors and breast cancer-specific distress to perceived barriers to genetic testing were examined with a statistical analysis of baseline data from 146 women of African descent (56% US born and 44% foreign born) meeting genetic breast cancer risk criteria and participating in a larger longitudinal study that included the opportunity for free genetic counseling and testing. Perceived barriers assessed included: (1) anticipation of negative emotional reactions, (2) stigma, (3) confidentiality concerns, (4) family-related worry, and (5) family-related guilt associated with genetic testing. In multivariate analyses, being foreign born was a significant predictor of anticipated negative emotional reactions about genetic testing (beta=0.26; SE=0.11; p=0.01). Breast cancer-specific distress scores (avoidance symptoms) were positively related to anticipated negative emotional reactions (beta=0.02; SE=0.005; p=barriers to genetic testing among women of African descent. The potential utility of culturally tailored genetic counseling services taking into account such influences and addressing emotional and psychological concerns of women considering genetic testing for breast cancer should be investigated.

  14. Genetic determinants of cardiovascular events among women with migraine: a genome-wide association study.

    Directory of Open Access Journals (Sweden)

    Markus Schürks

    Full Text Available Migraine is associated with an increased risk for cardiovascular disease (CVD. Both migraine and CVD are highly heritable. However, the genetic liability for CVD among migraineurs is unclear.We performed a genome-wide association study for incident CVD events during 12 years of follow-up among 5,122 migraineurs participating in the population-based Women's Genome Health Study. Migraine was self-reported and CVD events were confirmed after medical records review. We calculated odds ratios (OR and 95% confidence intervals (CI and considered a genome-wide p-value <5×10(-8 as significant.Among the 5,122 women with migraine 164 incident CVD events occurred during follow-up. No SNP was associated with major CVD, ischemic stroke, myocardial infarction, or CVD death at the genome-wide level; however, five SNPs showed association with p<5×10(-6. Among migraineurs with aura rs7698623 in MEPE (OR = 6.37; 95% CI 3.15-12.90; p = 2.7×10(-7 and rs4975709 in IRX4 (OR = 5.06; 95% CI 2.66-9.62; p = 7.7×10(-7 appeared to be associated with ischemic stroke, rs2143678 located close to MDF1 with major CVD (OR = 3.05; 95% CI 1.98-4.69; p = 4.3×10(-7, and the intergenic rs1406961 with CVD death (OR = 12.33; 95% CI 4.62-32.87; p = 5.2×10(-7. Further, rs1047964 in BACE1 appeared to be associated with CVD death among women with any migraine (OR = 4.67; 95% CI 2.53-8.62; p = 8.0×10(-7.Our results provide some suggestion for an association of five SNPs with CVD events among women with migraine; none of the results was genome-wide significant. Four associations appeared among migraineurs with aura, two of those with ischemic stroke. Although our population is among the largest with migraine and incident CVD information, these results must be treated with caution, given the limited number of CVD events among women with migraine and the low minor allele frequencies for three of the SNPs. Our results await independent replication

  15. Genetic Testing and Post-Testing Decision Making among BRCA-Positive Mutation Women: A Psychosocial Approach.

    Science.gov (United States)

    Hesse-Biber, Sharlene; An, Chen

    2016-10-01

    Through an analysis of an online survey of women who tested positive for the BRCA genetic mutation for breast cancer, this research uses a social constructionist and feminist standpoint lens to understand the decision-making process that leads BRCA-positive women to choose genetic testing. Additionally, this research examines how they socially construct and understand their risk for developing breast cancer, as well as which treatment options they undergo post-testing. BRCA-positive women re-frame their statistical medical risk for developing cancer and their post-testing treatment choices through a broad psychosocial context of engagement that also includes their social networks. Important psychosocial factors drive women's medical decisions, such as individual feelings of guilt and vulnerability, and the degree of perceived social support. Women who felt guilty and fearful that they might pass the BRCA gene to their children were more likely to undergo risk reducing surgery. Women with at least one daughter and women without children were more inclined toward the risk reducing surgery compared to those with only sons. These psychosocial factors and social network engagements serve as a "nexus of decision making" that does not, for the most part, mirror the medical assessments of statistical odds for hereditary cancer development, nor the specific treatment protocols outlined by the medical establishment.

  16. 'A low risk is still a risk': exploring women's attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention

    NARCIS (Netherlands)

    Henneman, L.; Timmermans, D. R.; Bouwman, C. M.; Cornel, M. C.; Meijers-Heijboer, H.

    2011-01-01

    Population breast cancer screening programs by mammography are offered to women based on age. It has been suggested that a screening program based on genetic risk profile could be more effective by targeting interventions at those at higher genetic risk. This study explores women's attitudes towards

  17. Immuno-related polymorphisms and cervical cancer risk: The IARC multicentric case-control study.

    Directory of Open Access Journals (Sweden)

    James McKay

    Full Text Available A small proportion of women who are exposed to infection with human-papillomavirus (HPV develop cervical cancer (CC. Genetic factors may affect the risk of progression from HPV infection to cervical precancer and cancer. We used samples from the International Agency for Research on Cancer (IARC multicentric case-control study to evaluate the association of selected genetic variants with CC. Overall, 790 CC cases and 717 controls from Algeria, Morocco, India and Thailand were included. Cervical exfoliated cells were obtained from control women and cervical exfoliated cells or biopsy specimens from cases. HPV-positivity was determined using a general primer GP5+/6+ mediated PCR. Unconditional logistic regression was used to estimate odds ratios (OR and corresponding 95% confidence intervals (CI of host genotypes with CC risk, using the homozygous wild type genotype as the referent category and adjusting by age and study centre. The association of polymorphisms with the risk of high-risk HPV-positivity among controls was also evaluated. A statistically significant association was observed between single nucleotide polymorphism (SNP CHR6 rs2844511 and CC risk: the OR for carriers of the GA or GG genotypes was 0.70 (95% CI: 0.43-1.14 and 0.61 (95% CI: 0.38-0.98, respectively, relative to carriers of AA genotype (p-value for trend 0.03. We also observed associations of borderline significance with the TIPARP rs2665390 polymorphism, which was previously found to be associated with ovarian and breast cancer, and with the EXOC1 rs13117307 polymorphism, which has been linked to cervical cancer in a large study in a Chinese population. We confirmed the association between CC and the rs2844511 polymorphism previously identified in a GWAS study in a Swedish population. The major histocompatibility region of chromosome 6, or perhaps other SNPs in linkage disequilibrium, may be involved in CC onset.

  18. Preimplantation genetic diagnosis for aneuploidy testing in women older than 44 years: a multicenter experience.

    Science.gov (United States)

    Ubaldi, Filippo Maria; Cimadomo, Danilo; Capalbo, Antonio; Vaiarelli, Alberto; Buffo, Laura; Trabucco, Elisabetta; Ferrero, Susanna; Albani, Elena; Rienzi, Laura; Levi Setti, Paolo E

    2017-05-01

    To report laboratory and clinical outcomes in preimplantation genetic diagnosis for aneuploidies (PGD-A) cycles for women 44 to 47 years old. Multicenter, longitudinal, observational study. In vitro fertilization (IVF) centers. One hundred and thirty-seven women aged 44.7 ± 0.7 years (range: 44.0-46.7) undergoing 150 PGD-A cycles during April 2013 to January 2016. Quantitative polymerase chain reaction-based PGD-A on trophectoderm biopsies and cryopreserved euploid single-embryo transfer (SET). Primary outcome measure: delivery rate per cycle; secondary outcome measures: miscarriage rate, and the rate and reasons for cycle cancelation with subanalyses for female age and number of metaphase 2 oocytes retrieved. In 102 (68.0%) of 150 cycles blastocyst development was obtained, but only 21 (14.0%) were euploid blastocysts. The overall euploidy rate was 11.8% (22 of 187). Twenty-one SET procedures were performed, resulting in 13 clinical pregnancies, of which 1 miscarried and 12 delivered. The delivery rate was 57.1% per transfer, 8.0% per cycle, and 8.8% per patient. The logistic regression analysis found that only female age (odds ratio 0.78) and number of metaphase 2 oocytes retrieved (odds ratio 1.25) statistically significantly correlated with the likelihood of delivery. The delivery rate per cycle was 10.6% (11 of 104) in patients aged 44.0 to 44.9 years and 2.6% in patients aged 45.0 to 45.9 years (n = 1 of 38). No euploid blastocysts were found for patients older than 45.0 years. Extensive counseling based on biological and clinical data should be provided to women older than 43 years who are requesting IVF because of their very low odds of success and high risk for embryonic aneuploidies. Nevertheless, the low miscarriage and good delivery rates reported in this study in women with good ovarian reserve aged 44 should encourage the use of PGD-A in this population. Copyright © 2017 American Society for Reproductive Medicine. Published by Elsevier Inc

  19. Risk factors associated with lipomyelomeningocele: a case-control study.

    Science.gov (United States)

    Esmaeili, Arash; Hanaei, Sara; Fadakar, Kaveh; Dadkhah, Sahar; Arjipour, Mahdi; Habibi, Zohreh; Nejat, Farideh; El Khashab, Mostafa

    2013-01-01

    In general, it seems that both genetic and environmental factors play important roles in the induction of neural tube defects. Lipomyelomeningocele (LipoMMC) is a rather common type of closed neural tube defect, but only limited studies have investigated the potential risk factors of this anomaly. Therefore, the purpose of this case-control study was to investigate the risk factors involved in LipoMMC formation. Various risk factors were evaluated in 35 children between 1 month and 10 years of age with LipoMMC in a hospital-based case-control study. The 2 control arms consisted of 35 children with myelomeningocele (MMC group) and 35 children with congenital anomalies other than central nervous system problems (control group). All groups were matched for age and visited the same hospital. A structured questionnaire was used for the collection of all data, including the mothers' weight and height during pregnancy, education, reproductive history, previous abortions, and socioeconomic status, as well as the parents' consanguinity and family history of the same anomalies. Univariate analysis of the children with LipoMMC compared to the control group showed that the use of periconceptional folic acid supplementation was significantly lower in the MMC and LipoMMC groups compared to the control group. In addition, comparison of the MMC and control groups revealed statistically significant differences regarding the use of folic acid and maternal obesity. In multivariate analysis, use of folic acid in the periconceptional period and during the first trimester was an independent risk factor for LipoMMC and MMC. Furthermore, maternal obesity was a significantly positive risk factor for MMC. The probable risk factors for LipoMMC were investigated in this case-control study. Consumption of folic acid in the periconceptional period and during the first trimester is an independent protective factor against LipoMMC. It seems that larger studies are needed to examine other possible

  20. STRESS, RELATIONSHIP SATISFACTION, AND HEALTH AMONG AFRICAN AMERICAN WOMEN: GENETIC MODERATION OF EFFECTS

    Science.gov (United States)

    Lei, Man-Kit; Beach, Steven R. H.; Simons, Ronald L.; Barr, Ashley B.; Cutrona, Carolyn E.; Philibert, Robert A.

    2015-01-01

    We examined whether romantic relationship satisfaction would serve as a link between early and later stressors which in turn would influence the Thyroid Function Index (TFI), an indicator of physiological stress response. Using the framework of genetic susceptibility theory combined with hypotheses derived from the vulnerability-stress-adaptation and stress-generation models, we tested whether the hypothesized mediational model would be conditioned by 5-HTTLPR genotype, with greater effects and stronger evidence of mediation among carriers of the “s” allele. In a sample of African American women in romantic relationships (n = 270), we found that 5-HTTLPR moderated each stage of the hypothesized mediational model in a “for better or for worse” manner. That is genetic polymorphisms function to exacerbate not only the detrimental impact of negative environments (i.e. “for worse effects”) but also the beneficial impact of positive environments (i.e. “for better effects”). The effect of early stress on relationship satisfaction was greater among carriers of the “short” allele than among those who did not carry the short allele, and was significantly different in both the “for better” and “for worse” direction. Likewise, the effect of relationship satisfaction on later stressors was moderated in a “for better” or “for worse” manner. Finally, impact on physiological stress, indexed using TFI level, indicated that the impact of later stressors on TFI level was greater in the presence of the short allele, and also followed a “for better” or “for worse” pattern. As expected, the proposed mediational model provided a better fit for “s” allele carriers. PMID:26376424

  1. Genetic analysis of high bone mass cases from the BARCOS cohort of Spanish postmenopausal women.

    Directory of Open Access Journals (Sweden)

    Patricia Sarrión

    Full Text Available The aims of the study were to establish the prevalence of high bone mass (HBM in a cohort of Spanish postmenopausal women (BARCOS and to assess the contribution of LRP5 and DKK1 mutations and of common bone mineral density (BMD variants to a HBM phenotype. Furthermore, we describe the expression of several osteoblast-specific and Wnt-pathway genes in primary osteoblasts from two HBM cases. A 0.6% of individuals (10/1600 displayed Z-scores in the HBM range (sum Z-score >4. While no mutation in the relevant exons of LRP5 was detected, a rare missense change in DKK1 was found (p.Y74F, which cosegregated with the phenotype in a small pedigree. Fifty-five BMD SNPs from Estrada et al. [NatGenet 44:491-501,2012] were genotyped in the HBM cases to obtain risk scores for each individual. In this small group of samples, Z-scores were found inversely related to risk scores, suggestive of a polygenic etiology. There was a single exception, which may be explained by a rare penetrant genetic variant, counterbalancing the additive effect of the risk alleles. The expression analysis in primary osteoblasts from two HBM cases and five controls suggested that IL6R, DLX3, TWIST1 and PPARG are negatively related to Z-score. One HBM case presented with high levels of RUNX2, while the other displayed very low SOX6. In conclusion, we provide evidence of lack of LRP5 mutations and of a putative HBM-causing mutation in DKK1. Additionally, we present SNP genotyping and expression results that suggest additive effects of several genes for HBM.

  2. Television watching, leisure time physical activity, and the genetic predisposition in relation to body mass index in women and men.

    Science.gov (United States)

    Qi, Qibin; Li, Yanping; Chomistek, Andrea K; Kang, Jae H; Curhan, Gary C; Pasquale, Louis R; Willett, Walter C; Rimm, Eric B; Hu, Frank B; Qi, Lu

    2012-10-09

    Previous studies on gene-lifestyle interaction and obesity have focused mostly on the FTO gene and physical activity, whereas little attention has been paid to sedentary behavior as indicated by television (TV) watching. We analyzed interactions between TV watching, leisure time physical activity, and genetic predisposition in relation to body mass index (BMI) in 7740 women and 4564 men from 2 prospective cohorts: The Nurses' Health Study and the Health Professionals Follow-up Study. Data on physical activity and TV watching were collected 2 years before assessment of BMI. A weighted genetic risk score was calculated on the basis of 32 established BMI-associated variants. In both women and men, the genetic associations with BMI strengthened with increased hours of TV watching. An increment of 10 points in the weighted genetic risk score was associated with 0.8 (SE, 0.4), 0.8 (SE, 0.2), 1.4 (SE, 0.2), 1.5 (SE, 0.2), and 3.4 (SE, 1.0) kg/m(2) higher BMI across the 5 categories of TV watching (0-1, 2-5, 6-20, 21-40, and >40 h/wk; P for interaction=0.001). In contrast, the genetic association with BMI weakened with increased levels of physical activity. An increment of 10 points in the weighted genetic risk score was associated with 1.5 (SE, 0.2), 1.3 (SE, 0.2), 1.2 (SE, 0.2), 1.2 (SE, 0.2), and 0.8 (SE, 0.2) kg/m(2) higher BMI across the quintiles of physical activity. The interactions of TV watching and physical activity with genetic predisposition in relation to BMI were independent of each other. A sedentary lifestyle, indicated by prolonged TV watching, may accentuate the predisposition to elevated adiposity, whereas greater leisure time physical activity may attenuate the genetic association.

  3. The Effects of Coping Therapy on General Health of Pregnant Women with High Risk of Genetics Abnormalities in their Fetus

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    F Nazmiye

    2016-11-01

    Full Text Available Introduction: The physiological changes in pregnancy lead to the psychological pressures. Therefore, there is a need for applying cognitive behavioral and emotional confronting to encounter these problems. The present research investigated the effect of coping therapy on general health of pregnant women with high risk of genetic abnormalities in their fetus. Methods: The present study was a semi experimental research. Pre and post tests were used to investigate coping therapy between 30 pregnant women who were referred to Khatomolanbia Genetic Clinic, Yazd, Iran. All the women had pregnancy screening test with high risk of genetics abnormalities in their fetus. They were divided randomly into two groups of case and controls. The test of GHQ was performed in both groups, then the case groups went under 8 sessions of teaching coping therapy each lasting 120 min. After finishing the sessions, post test was performed and analyzing the data using descriptive statistical index and covariance analysis test. Results: Teaching coping therapy to case group caused improvement in their GHQ mark, and this change was significantly different from the change in the GHQ mark of control group. In addition, there was a significant decrease in anxiety, depression and physical signs and an improvement of social function in case group compare to the control group. Discussion: Teaching coping therapy can improve the general health of pregnant women with high risk of genetic abnormalities in their fetus. Therefore, presenting educational courses to the women can improve their general health indices in addition to preventing the probable effects of stress on fetus.

  4. A case-control study of lifestyle and lung cancer associations by histological types.

    Science.gov (United States)

    Kubik, A; Zatloukal, P; Tomasek, L; Dolezal, J; Syllabova, L; Kara, J; Kopecky, P; Plesko, I

    2008-01-01

    The objective of the study was to investigate the contribution of dietary factors and physical exercise to the variation in the risk of lung cancer and its major histological types among men and women in the Czech Republic, and reveal interactions between smoking and diet/physical exercise, if any. In a hospital based case-control study, data collected by in-person interviews from 1096 microscopically confirmed lung cancer cases (587 women, 509 men) and 2966 controls were analyzed using unconditional logistic regression stratified by appropriate factors. Among all nonsmoking women protective effects were observed for black tea (OR=0.69), among all smoking women for wine (OR=0.71), physical exercise (OR=0.64) and vitamin supplements (OR=0.71). Among all men, inverse associations were found in smokers between lung cancer risk and frequent intake of fruits (OR=0.69) or moderate intake of spirits (OR=0.64), and a direct association for fat foods (OR=1.68). Comparing the effects of diet/physical activity on lung cancer risk among nonsmokers versus smokers, interactions with smoking appeared for the intake of black tea and milk/dairy products among women, and for moderate intake of spirits in men. When the effects of diet/physical exercise on risk were analyzed by major cell types in women, the intake of wine and physical exercise were inversely associated with the risk of both adenocarcinoma and small cell cancer, the intakes of fruits and vitamin supplements were inversely associated with the risk of squamous cell cancer. In men, the intake of fat foods was directly associated with the risk of squamous cell cancer, while the frequent intake of apples was inversely associated with the risk of both squamous- and small cell cancers. In men an inverse association with the risk of squamous cell cancer was found for the intake of other fruits. These data suggest that diet/physical exercise may affect the risk of lung cancer and major cell types, and that interactions between

  5. Combinations of SNP genotypes from the Wellcome Trust Case Control Study of bipolar patients

    DEFF Research Database (Denmark)

    Mellerup, Erling; Jørgensen, Martin Balslev; Dam, Henrik

    2018-01-01

    Objectives: Combinations of genetic variants are the basis for polygenic disorders. We examined combinations of SNP genotypes taken from the 446 729 SNPs in The Wellcome Trust Case Control Study of bipolar patients. Methods: Parallel computing by graphics processing units, cloud computing, and data...

  6. Mutation frequencies in female mice and the estimation of genetic hazards of radiation in women

    International Nuclear Information System (INIS)

    Russell, W.L.

    1977-01-01

    The female germ cell stage of primary importance in radiation genetic hazards is the immature, arrested oocyte. In the mouse, this stage has a near zero or zero sensitivity to mutation induction by radiation. However, the application of these mouse results to women has been questioned on the ground that the mouse arrested oocytes are highly sensitive to killing by radiation, while the human cells are not; and, furthermore, that the mature and maturing oocytes in the mouse, which are resistant to killing, are sensitive to mutation induction. The present results have a 2-fold bearing on this problem. First, a more detailed analysis of oocyte-stage sensitivity to killing and mutation induction shows that there is no consistent correlation, either negative or positive, between the two. This indicates that the sensitivity to cell killing of the mouse immature oocyte may not be sufficient reason to prevent its use in predicting the mutational response of the human immature oocyte. Second, if the much more cautious assumption is made that the human arrested oocyte might be as mutationally sensitive as the most sensitive of all oocyte stages in the mouse, namely the maturing and mature ones, then the present data on the duration of these stages permit more accurate estimates than were heretofore possible on the mutational response of these stages to chronic irradiation

  7. Hospital visitors as controls in case-control studies

    Directory of Open Access Journals (Sweden)

    Gulnar Azevedo S Mendonça

    2001-10-01

    Full Text Available OBJECTIVE: Selecting controls is one of the most difficult tasks in the design of case-control studies. Hospital controls may be inadequate and random controls drawn from the base population may be unavailable. The aim was to assess the use of hospital visitors as controls in a case-control study on the association of organochlorinated compounds and other risk factors for breast cancer conducted in the main hospital of the "Instituto Nacional de Câncer" -- INCA (National Cancer Institute in Rio de Janeiro (Brazil. METHODS: The study included 177 incident cases and 377 controls recruited among female visitors. Three different models of control group composition were compared: Model 1, with all selected visitors; Model 2, excluding women visiting relatives with breast cancer; and Model 3, excluding all women visiting relatives with any type of cancer. Odds ratios (OR and 95% confidence intervals were calculated to test the associations. RESULTS: Age-adjusted OR for breast cancer associated with risk factors other than family history of cancer, except smoking and breast size, were similar in the three models. Regarding family history of all cancers, except for breast cancer, there was a decreased risk in Models 1 and 2, while in Model 3 there was an increased risk, but not statistically significant. Family history of breast cancer was a risk factor in Models 2 and 3, but no association was found in Model 1. In multivariate analysis a significant risk of breast cancer was found when there was a family history of breast cancer in Models 2 and 3 but not in Model 1. CONCLUSIONS: These results indicate that while investigating risk factors unrelated to family history of cancer, the use of hospital visitors as controls may be a valid and feasible alternative.

  8. Case-control studies in diabetes. Do they really use a case-control design?

    Science.gov (United States)

    Ramos, Analía; Mendoza, Lilian Cristina; Rabasa, Fernanda; Bolíbar, Ignasi; Puig, Teresa; Corcoy, Rosa

    2017-07-01

    Studies defined as case-control do not always use this design. We aimed to estimate the frequency of mislabelled case-control studies in published articles in the area of diabetes and to identify the predictors of incorrect labelling. We searched Medline and Web of Science for articles with "diabetes" and "case control" in title and filtered for language (English/Romance) and period (January 2010-December 2014). Inclusion criteria were: (1) statement to use a case-control design in title, (2) to be a final full-length publication and (3) to have original data in the area of diabetes. Three independent reviewers went through titles, looked for full texts and reviewed them. Discrepancies were settled with a fourth reviewer. Expert epidemiologist advice was requested in case of doubt. case-control mislabelling; addressed predictors: publication year, journal impact factor and journal subject. proportion of mislabelled CC articles and assessment of predictors by multivariate logistic regression analysis. We retrieved 362 articles, 251 of them fulfilling inclusion criteria. The proportion of mislabelled CC studies was 43.8% (confidence interval 95% 37.7-50.0%). Most mislabelled studies had a cross-sectional design (82.7%). Predictors of mislabelling were publication year, journal impact factor and journal area. A relevant subset of studies defined as case-control in the area of diabetes correspond to mislabelled cross-sectional studies. Incorrect labelling misleads readers regarding the interpretation of results and the cause-effect hypothesis. Researchers, reviewers and editors should be aware of and commit to settle this issue.

  9. Dietary patterns and risk of colorectal cancer in Tehran Province: a case?control study

    OpenAIRE

    Safari, Akram; Shariff, Zalilah Mohd; Kandiah, Mirnalini; Rashidkhani, Bahram; Fereidooni, Foroozandeh

    2013-01-01

    Background Colorectal cancer is the third and fourth leading cause of cancer incidence and mortality among men and women, respectively in Iran. However, the role of dietary factors that could contribute to this high cancer incidence remains unclear. The aim of this study was to determine major dietary patterns and its relationship with colorectal cancer. Methods This case?control study was conducted in four hospitals in Tehran city of Iran. A total of 71 patients (35 men and 36 women, aged 40...

  10. Protocol for investigating genetic determinants of posttraumatic stress disorder in women from the Nurses' Health Study II

    OpenAIRE

    Koenen, Karestan C; DeVivo, Immaculata; Rich-Edwards, Janet; Smoller, Jordan W; Wright, Rosalind J; Purcell, Shaun M

    2009-01-01

    Abstract Background One in nine American women will meet criteria for the diagnosis of posttraumatic stress disorder (PTSD) in their lifetime. Although twin studies suggest genetic influences account for substantial variance in PTSD risk, little progress has been made in identifying variants in specific genes that influence liability to this common, debilitating disorder. Methods and design We are using the unique resource of the Nurses Health Study II, a prospective epidemiologic cohort of 6...

  11. Genetic variations, reproductive aging, and breast cancer risk in African American and European American women: The Women's Circle of Health Study.

    Science.gov (United States)

    Coignet, Marie V; Zirpoli, Gary Robert; Roberts, Michelle R; Khoury, Thaer; Bandera, Elisa V; Zhu, Qianqian; Yao, Song

    2017-01-01

    Reproductive aging phenotypes, including age at menarche (AM) and age at natural menopause (ANM), are well-established risk factors for breast cancer. In recent years, many genetic variants have been identified in association with AM and ANM in genome-wide association studies among European populations. Using data from the Women's Circle of Health Study (WCHS) of 1,307 European-American (EA) and 1,365 African-American (AA) breast cancer cases and controls, we aimed to replicate 53 earlier GWAS variants for AM and ANM in AA and EA groups and to perform analyses on total and net reproductive lifespan (TRLS; NRLS). Breast cancer risk was also examined in relation to a polygenic risk score (PRS) for each of the reproductive aging phenotypes. We replicated a number of variants in EA women, including rs7759938 in LIN28B for AM and rs16991615 in MCM8 for ANM; whereas in the AA group, only one SNP (rs2947411 in TMEM18) for AM was directionally consistent and nominally significant. In analysis of TRLS and NRLS, several SNPs were significant, including rs466639 in RXRG that was associated with both phenotypes in both AA and EA groups. None of the PRS was associated with breast cancer risk. Given the paucity of data available among AA populations, our study contributes to the literature of genetics of reproductive aging in AA women and highlights the importance of cross population replication of GWAS variants.

  12. Association between PON1 genetic polymorphisms and miscarriage in Mexican women exposed to pesticides.

    Science.gov (United States)

    Blanco-Muñoz, Julia; Aguilar-Garduño, Clemente; Gamboa-Avila, Ricardo; Rodríguez-Barranco, Miguel; Pérez-Méndez, Oscar; Huesca-Gómez, Claudia; González-Alzaga, Beatriz; Lacasaña, Marina

    2013-04-01

    Placental oxidative stress has been involved in the pathogenesis of certain reproductive adverse effects, including miscarriage. Paraxonase 1 (PON1) is a high-density lipoprotein(HDL)-linked enzyme that prevents oxidation of low-density lipoproteins (LDL) and is involved in detoxification from organophosphate pesticides. To assess the association between maternal PON1 polymorphisms (PON1192Q/R, PON155 L/M y PON1-108C/T) and the risk of miscarriage in women chronically exposed to organophosphate pesticides in Mexico. In a cross-sectional study, socio-demographic data, reproductive history data, environmental exposures, and other variables of concern were collected by means of a questionnaire from 264 women (floriculturists and wives of floriculturists) who had been pregnant sometime during the 10 years preceding the study. Blood samples were also collected from them. PON1192 and PON155 genotypes were determined by PCR amplification, and PON1-108 genotypes, by a TaqMan real-time polymerase chain reaction assay. Complete information regarding the results of pregnancy and maternal genotype tests was obtained for 514 pregnancies (35 miscarriages and 479 controls). The association between PON1 genotypes and miscarriage was evaluate through GEE models. The risk of miscarriage by mothers with PON1192RR genotype was 2.2 higher than by mothers with PON1192QR/PON1192QQ genotype (95% CI 0.93-5.17). The risk was close to 4 times higher in mothers with PON155MM/PON155LM genotype than in mothers with PON155LL genotype (OR=3.9; 95% CI 1.38-11.0). No significant differences were found in risk of miscarriage based on the maternal PON1-108C/T genotype. No evidence was found of an interaction between the various PON1 genotypes and the mothers' floricultural activity during pregnancy. This study suggests that there is an effect of genetic maternal PON1 polymorphisms on miscarriage and provides additional evidence that combines with the growing information about the ways in which

  13. Genetic influences on hand osteoarthritis in Finnish women--a replication study of candidate genes.

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    Satu Hämäläinen

    Full Text Available OBJECTIVES: Our aims were to replicate some previously reported associations of single nucleotide polymorphisms (SNPs in five genes (A2BP1, COG5, GDF5, HFE, ESR1 with hand osteoarthritis (OA, and to examine whether genes (BCAP29, DIO2, DUS4L, DVWA, HLA, PTGS2, PARD3B, TGFB1 and TRIB1 associated with OA at other joint sites were associated with hand OA among Finnish women. DESIGN: We examined the bilateral hand radiographs of 542 occupationally active Finnish female dentists and teachers aged 45 to 63 and classified them according to the presence of OA by using reference images. Data regarding finger joint pain and other risk factors were collected using a questionnaire. We defined two hand OA phenotypes: radiographic OA in at least three joints (ROA and symptomatic DIP OA. The genotypes were determined by PCR-based methods. In statistical analysis, we used SNPStats software, the chi-square test and logistic regression. RESULTS: Of the SNPs, rs716508 in A2BP1 was associated with ROA (OR = 0.7, 95% CI 0.5-0.9 and rs1800470 in TGFB1 with symptomatic DIP OA (1.8, 1.2-2.9. We found an interaction between ESR1 (rs9340799 and occupation: teachers with the minor allele were at an increased risk of symptomatic DIP OA (2.8, 1.3-6.5. We saw no association among the dentists. We also found that the carriage of the COG5 rs3757713 C allele increased the risk of ROA only among women with the BCAP29 rs10953541 CC genotype (2.6; 1.1-6.1. There was also a suggestive interaction between the HFE rs179945 and the ESR1 rs9340799, and the carriage of the minor allele of either of these SNPs was associated with an increased risk of symptomatic DIP OA (2.1, 1.3-2.5. CONCLUSIONS: Our results support the earlier findings of A2BP1 and TBGF1 being OA susceptibility genes and provide evidence of a possible gene-gene interaction in the genetic influence on hand OA predisposition.

  14. Selectivity in Genetic Association with Sub-classified Migraine in Women

    Science.gov (United States)

    Chasman, Daniel I.; Anttila, Verneri; Buring, Julie E.; Ridker, Paul M.; Schürks, Markus; Kurth, Tobias

    2014-01-01

    Migraine can be sub-classified not only according to presence of migraine aura (MA) or absence of migraine aura (MO), but also by additional features accompanying migraine attacks, e.g. photophobia, phonophobia, nausea, etc. all of which are formally recognized by the International Classification of Headache Disorders. It remains unclear how aura status and the other migraine features may be related to underlying migraine pathophysiology. Recent genome-wide association studies (GWAS) have identified 12 independent loci at which single nucleotide polymorphisms (SNPs) are associated with migraine. Using a likelihood framework, we explored the selective association of these SNPs with migraine, sub-classified according to aura status and the other features in a large population-based cohort of women including 3,003 active migraineurs and 18,108 free of migraine. Five loci met stringent significance for association with migraine, among which four were selective for sub-classified migraine, including rs11172113 (LRP1) for MO. The number of loci associated with migraine increased to 11 at suggestive significance thresholds, including five additional selective associations for MO but none for MA. No two SNPs showed similar patterns of selective association with migraine characteristics. At one extreme, SNPs rs6790925 (near TGFBR2) and rs2274316 (MEF2D) were not associated with migraine overall, MA, or MO but were selective for migraine sub-classified by the presence of one or more of the additional migraine features. In contrast, SNP rs7577262 (TRPM8) was associated with migraine overall and showed little or no selectivity for any of the migraine characteristics. The results emphasize the multivalent nature of migraine pathophysiology and suggest that a complete understanding of the genetic influence on migraine may benefit from analyses that stratify migraine according to both aura status and the additional diagnostic features used for clinical characterization of

  15. Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.

    Science.gov (United States)

    Hanning, Kirstie A; Steel, Michael; Goudie, David; McLeish, Lorna; Dunlop, Jackie; Myring, Jessica; Sullivan, Frank; Berg, Jonathan; Humphris, Gerry; Ozakinci, Gozde

    2015-10-01

    Personal and family data forms, completed by women referred to breast cancer genetics clinics, are valuable tools for verification and extension of family history, crucial steps in accurate risk evaluation. A significant minority of women do not complete and return these forms, despite reminders, even when completion is a pre-requisite for a clinic appointment. To facilitate access of women at increased familial risk of breast cancer to screening and counselling services by investigating reasons for non-return of the forms. Based on a single regional 'breast cancer family' service in the UK, Analysis of quantitative data comparing women who did not return forms (n = 55) with those who had done so (n = 59), together with qualitative evaluation of potential barriers to form-completion through semi-structured telephone interviews with a random subset of 'non-returners' (n = 23). Non-returners have higher proportions of the very young (below the age at which surveillance could be offered) and of women from lower social deprivation categories. Interviews revealed that the majority of non-returners are anxious, rather than unconcerned about their breast cancer risk and circumstances and attitudes contributed to non-compliance. Twenty-one participants confirmed that they would welcome an appointment at a 'breast cancer family' clinic, but nine did not attend for the appointment. They were significantly younger than those who attend, but were not at lower familial risk. Many women who fail to complete and return a family history form would benefit from risk assessment and genetic counselling. Several steps are suggested that might help them access the relevant services. © 2014 John Wiley & Sons Ltd.

  16. Sexual Dysfunction in Breast Cancer: A Case-Control Study

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    Mandana Ebrahimi

    2015-02-01

    Full Text Available Background: Sexual dysfunction in breast cancer patients is considered as a common and distressing problem. Considering the increasing number of breast cancer survivors living for longer periods of time with the disease and the importance of their quality of life, we conducted the present study to compare the sexual functioning in breast cancer patients with their healthy counterparts.Methods: In this case-control study, breast cancer patients who completed their treatment protocol and were followed up for at least six months were included. The controls were healthy women with normal clinical breast examinations. All subjects filled-in the Persian version of Female Sexual Function Index questionnaire.Results: A total of 165 subjects including 71 breast cancer patients and 94 healthy women were studied. The frequency of sexual dysfunction in cases and controls was 52.6% and 47.4%, respectively (P = 0.09. There were no significant differences between the two groups regarding domain scores, except for vaginal lubrication (P = 0.045. Logistic regression analysis indicated that significant determinants of sexual dysfunction in breast cancer group was patients' age (OR = 4.0, 95%CI: 1.3 – 11.5, P = 0.01 and age of the spouse (OR= 9.8, 95% CI: 1.8-51.9, P= 0.007, while in controls, only emotional relationship with the husband was the significant predictive factor (OR = 6.3, 95%CI: 1.9 – 20.5, P = 0.002.Conclusions: Our findings indicated that sexual dysfunction is prevalent in Iranian women regardless of their physical health status. The frequency of vaginal dryness in breast cancer patients was significantly higher than controls. Age of the patient and the spouse (>40 were the only significant predictors of sexual dysfunction among women with breast cancer. Preventive strategies, sexual education and access to effective treatment should be planned in supportive care of breast cancer patients.

  17. Case-control study of fetal microchimerism and breast cancer.

    Directory of Open Access Journals (Sweden)

    Vijayakrishna K Gadi

    2008-03-01

    Full Text Available Prior pregnancy is known to protect against development of breast cancer. Recent studies have demonstrated that pregnancy has the capacity to establish small numbers of immunologically active fetal-derived cells in the mother, a phenomenon known as fetal microchimerism (FMc. We asked whether presence of FMc, routinely acquired during pregnancy, is a protective factor for breast cancer.DNA extracts from peripheral blood specimens were obtained from a population-based case-control study of risk factors for breast cancer in women 21 to 45 years old. Specimens were tested with quantitative PCR for presence and concentrations of male DNA presumed to derive from prior pregnancies with a male fetus. Odds ratios (OR and 95% confidence intervals (CI were estimated with consideration of multiple established reproductive and environmental risk factors for breast cancer. FMc results were generated on 99 parous women, 54 with primary invasive breast cancer and 45 general population controls. FMc prevalence was 56% (25/45 and 26% (14/54 in controls and cases, respectively. Women harboring FMc were less likely to have had breast cancer (OR = 0.29, 95% CI 0.11-0.83; p = 0.02, adjusting for age, number of children, birth of a son, history of miscarriage, and total DNA tested. In addition, FMc concentrations were higher in controls versus cases (p = 0.01. Median concentrations were 2 (0-78 and 0 (0-374 fetal genomes/10(6 maternal genomes in controls and cases, respectively.Results suggest that the enigma of why some parous women are not afforded protection from breast cancer by pregnancy might in part be explained by differences in FMc. Mechanistic studies of FMc-derived protection against breast cancer are warranted.

  18. Alcohol-related breast cancer in postmenopausal women - effect of CYP19A1, PPARG and PPARGC1A polymorphisms on female sex-hormone levels and interaction with alcohol consumption and NSAID usage in a nested case-control study and a randomised controlled trial

    DEFF Research Database (Denmark)

    Kopp, Tine Iskov; Jensen, Ditte Marie; Ravn-Haren, Gitte

    2016-01-01

    . Association between the CYP19A1 polymorphisms and hormone levels was also examined among 339 non-HRT users. Incidence rate ratios were calculated based on Cox' proportional hazards model. Furthermore, we performed a pilot randomised controlled trial to determine the effect of the PPARG Pro(12)Ala polymorphism...... and the PPARγ stimulator Ibuprofen on sex-hormone levels following alcohol intake in postmenopausal women (n = 25) using linear regression. Genetic variations in CYP19A1 were associated with hormone levels (estrone: P rs11070844 = 0.009, estrone sulphate: P rs11070844 = 0.01, P rs749292 = 0.004, P rs1062033 = 0...

  19. A Note on Penalized Regression Spline Estimation in the Secondary Analysis of Case-Control Data

    KAUST Repository

    Gazioglu, Suzan; Wei, Jiawei; Jennings, Elizabeth M.; Carroll, Raymond J.

    2013-01-01

    Primary analysis of case-control studies focuses on the relationship between disease (D) and a set of covariates of interest (Y, X). A secondary application of the case-control study, often invoked in modern genetic epidemiologic association studies, is to investigate the interrelationship between the covariates themselves. The task is complicated due to the case-control sampling, and to avoid the biased sampling that arises from the design, it is typical to use the control data only. In this paper, we develop penalized regression spline methodology that uses all the data, and improves precision of estimation compared to using only the controls. A simulation study and an empirical example are used to illustrate the methodology.

  20. A Note on Penalized Regression Spline Estimation in the Secondary Analysis of Case-Control Data

    KAUST Repository

    Gazioglu, Suzan

    2013-05-25

    Primary analysis of case-control studies focuses on the relationship between disease (D) and a set of covariates of interest (Y, X). A secondary application of the case-control study, often invoked in modern genetic epidemiologic association studies, is to investigate the interrelationship between the covariates themselves. The task is complicated due to the case-control sampling, and to avoid the biased sampling that arises from the design, it is typical to use the control data only. In this paper, we develop penalized regression spline methodology that uses all the data, and improves precision of estimation compared to using only the controls. A simulation study and an empirical example are used to illustrate the methodology.

  1. Genetics

    International Nuclear Information System (INIS)

    Hubitschek, H.E.

    1975-01-01

    Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

  2. Differences in food intake and genetic variability in taste receptors between Czech pregnant women with and without gestational diabetes mellitus.

    Science.gov (United States)

    Bartáková, Vendula; Kuricová, Katarína; Zlámal, Filip; Bělobrádková, Jana; Kaňková, Katetřina

    2018-03-01

    Gestational diabetes mellitus (GDM) represents the most frequent metabolic disorder in pregnancy. Since dietary intake plays an important role in obesity and type 2 diabetes development, it is likely to be for the susceptibility to GDM too. Food preferences, driving partly the diet composition, are changing during pregnancy. Taste and genetic variability in taste receptors is an important factor in determining food preferences. Aims of our study were (1) to characterize dietary habits of pregnant women and to find possible differences in food preferences between healthy pregnant women and those with GDM and (2) to ascertain possible association of several single nucleotide polymorphisms (SNPs) in taste receptor (TR) genes with GDM. A total of 363 pregnant women (293 with GDM and 70 with physiologic pregnancy) were included in the study. Dietary pattern spanning the period of approx. 6 months preceding the time of GDM screening was assessed using a semi-quantitative food frequency questionnaire. A total of five SNPs in TR genes were selected for genotyping based on their functionality or previous associations. Women with GDM exhibited significantly more frequent meat consumption (esp. poultry, pork and smoked meat), dairy products and sweet beverages consumption. The legumes consumption was found to be inversely correlated with fasting glycaemia (P = 0.007, Spearman). CC genotype in TAS2R9 gene (SNP rs3741845) was significantly associated with GDM (P = 0.0087, Chi-square test). Our study showed differences in dietary intake of selected food items between healthy pregnant women and those with GDM and genetic association of bitter taste receptor allele with GDM.

  3. Genetically Predicted Body Mass Index and Breast Cancer Risk : Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

    NARCIS (Netherlands)

    Guo, Yan; Warren Andersen, Shaneda; Shu, Xiao-Ou; Michailidou, Kyriaki; Bolla, Manjeet K; Wang, Qin; Garcia-Closas, Montserrat; Milne, Roger L; Schmidt, Marjanka K; Chang-Claude, Jenny; Dunning, Allison; Bojesen, Stig E; Ahsan, Habibul; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadiel, Alicia; Benitez, Javier; Bogdanova, Natalia V; Bonanni, Bernardo; Børresen-Dale, Anne-Lise; Brand, Judith; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Casey, Graham; Chenevix-Trench, Georgia; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Dumont, Martine; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Fostira, Florentia; Gammon, Marilie; Giles, Graham G; Guénel, Pascal; Haiman, Christopher A; Hamann, Ute; Hooning, Maartje J; Hopper, John L; Jakubowska, Anna; Jasmine, Farzana; Jenkins, Mark; John, Esther M; Johnson, Nichola; Jones, Michael E; Kabisch, Maria; Kibriya, Muhammad; Knight, Julia A; Koppert, Linetta B; Kosma, Veli-Matti; Kristensen, Vessela; Le Marchand, Loic; Lee, Eunjung; Li, Jingmei; Lindblom, Annika; Luben, Robert; Lubinski, Jan; Malone, Kathi E; Mannermaa, Arto; Margolin, Sara; Marme, Frederik; McLean, Catriona; Meijers-Heijboer, Hanne; Meindl, Alfons; Neuhausen, Susan L; Nevanlinna, Heli; Neven, Patrick; Olson, Janet E; Perez, Jose I A; Perkins, Barbara; Peterlongo, Paolo; Phillips, Kelly-Anne; Pylkäs, Katri; Rudolph, Anja; Santella, Regina; Sawyer, Elinor J; Schmutzler, Rita K; Seynaeve, Caroline; Shah, Mitul; Shrubsole, Martha J; Southey, Melissa C; Swerdlow, Anthony J; Toland, Amanda E; Tomlinson, Ian; Torres, Diana; Truong, Thérèse; Ursin, Giske; Van Der Luijt, Rob B; Verhoef, Senno; Whittemore, Alice S; Winqvist, Robert; Zhao, Hui; Zhao, Shilin; Hall, Per; Simard, Jacques; Kraft, Peter; Pharoah, Paul; Hunter, David; Easton, Douglas F; Zheng, Wei

    BACKGROUND: Observational epidemiological studies have shown that high body mass index (BMI) is associated with a reduced risk of breast cancer in premenopausal women but an increased risk in postmenopausal women. It is unclear whether this association is mediated through shared genetic or

  4. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  5. Genetic variants of the kynurenine-3-monooxygenase and postpartum depressive symptoms after cesarean section in Chinese women.

    Science.gov (United States)

    Wang, Sai-Ying; Duan, Kai-Ming; Tan, Xiao-Fang; Yin, Ji-Ye; Mao, Xiao-Yuan; Zheng, Wei; Wang, Chun-Yan; Yang, Mi; Peng, Cheng; Zhou, Hong-Hao; Liu, Zhao-Qian

    2017-06-01

    New conceptualizations of depression have emphasized the role of the kynurenine pathway (KP) in the pathogenesis of postpartum depressive symptoms (PDS). Kynurenine 3-monooxygenase (KMO) is a rate-limiting enzyme of the KP, where it catalyzes the conversion of kynurenine (KYN) to 3-hydroxykynurenine (3-HK). Previous work indicates that KMO is closely linked to the pathophysiology of depressive disorders. The purpose of this study is to investigate whether variations in the KMO gene affect PDS development after cesarean section. A total of 710 Chinese women receiving cesarean section were enrolled in this study. PDS was determined by an Edinburgh Postnatal Depression Scale (EPDS) score ≥13. Subsequently, 24 women with PDS and 48 matched women without PDS were randomly selected for investigation of perinatal serum concentrations of KYN, 3-HK and the 3-HK/KYN ratio. The 3-HK/KYN ratio indicates the activity of KMO. In addition, 6 single nucleotide polymorphisms of the KMO gene were examined. Following this genotyping, 36 puerperant women carrying the KMO rs1053230 AG genotype and 72 matched puerperant women carrying the KMO rs1053230 GG genotype were selected for comparisons of KYN, 3-HK and 3-HK/KYN ratio levels. The results show the incidence of PDS in the Chinese population to be 7.3%, with PDS characterized by increased serum 3-HK concentration and 3-HK/KYN ratio, versus matched postpartum women without PDS (PKMO rs1053230 are significantly associated with the incidence of PDS (PKMO rs1053230 AG genotype are significantly higher than those in matched postpartum women carrying the KMO rs1053230 GG genotype. The presented data highlight the contribution of alterations in the KP to the pathogenesis of postpartum depression. Heightened KMO activity, including as arising from KMO rs1053230 G/A genetic variations, are indicated as one possible mechanism driving the biological underpinnings of PDS. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Ethnic and genetic factors of iron status in women of reproductive age.

    Science.gov (United States)

    Gordeuk, Victor R; Brannon, Patsy M

    2017-12-01

    Background: African Americans are at increased risk of iron deficiency (ID) but also have higher serum ferritin (SF) concentrations than those of the general population. The Hemochromatosis and Iron Overload Screening (HEIRS) Study was a multicenter study of ethnically diverse participants that tested for the hemochromatosis ( HFE ) C282Y genotype and iron status. Objective: We sought to determine the prevalence and predictors of ID (SF concentration ≤15 μg/L) and elevated iron stores (SF concentration >300 μg/L) in HEIRS women of reproductive age (25-44 y). Design: The HEIRS Study was a cross-sectional study of iron status and HFE mutations in primary care patients at 5 centers in the United States and Canada. We analyzed data for women of reproductive age according to whether or not they were pregnant or breastfeeding at the time of the study. Results: ID was present in 12.5% of 20,080 nonpregnant and nonbreastfeeding women compared with 19.2% of 1962 pregnant or breastfeeding women ( P iron stores were shown in 1.7% of nonpregnant and nonbreastfeeding women compared with 0.7% of pregnant or breastfeeding women ( P = 0.001). HFE C282Y homozygosity had the most marked independent association with elevated iron stores in nonpregnant and nonbreastfeeding women and in pregnant or breastfeeding women (OR >49.0; P iron stores in both groups of women (OR >2.0; P iron stores in nonpregnant and nonbreastfeeding women. Conclusions: Both ID and elevated iron stores are present in women of reproductive age and are influenced by ethnicity and HFE C282Y. Efforts to optimize iron status should keep these findings in view. This study was registered at clinicaltrials.gov as NCT03276247. © 2017 American Society for Nutrition.

  7. Laryngeal sarcoidosis: a case-control study.

    Science.gov (United States)

    Duchemann, Boris; Lavolé, Armelle; Naccache, Jean-Marc; Nunes, Hilario; Benzakin, Sylvain; Lefevre, Marine; Kambouchner, Marianne; Périé, Sophie; Valeyre, Dominique; Cadranel, Jacques

    2014-10-20

    We undertook a study on a series of laryngeal sarcoidosis (LS), a very rare and often threatening localization to better specify laryngeal manifestations, sarcoidosis clinical expression and long-term follow-up. This was a retrospective case-control study. All LS patients from two French centers were included and compared to sarcoidosis patients without laryngeal localization with two controls for one patient. Twelve consecutive LS patients were recruited between 1993 and 2011. LS revealed sarcoidosis in eight cases (67%). The most common symptoms were hoarseness (77%), inspiratory dyspnea (38%) and dysphagia (38%). Epidemiological characterisics were not different. Extrapulmonary localizations were significantly more common in LS patients than in controls (92% vs. 54%, p=0.02), particularly lupus pernio (25% vs. 0%, p=0.03) and nasosinusal involvement (83% vs. 4%, p<0.01) while thoracic involvement was less frequent (58% vs 100%, p < 0.01). Treatment rates were higher in the LS group (92% vs. 58%, p=0.04), and treatment duration was longer (median: 81 vs. 13 months, p=0.04), with frequent long-term treatment (67%, N=8/12). Two patients underwent surgery. One patient needed temporary tracheostomy during the course of the disease; Remission rates were lower in LS patients (9% vs. 58% at 2 years p<0.01). Eventually, there was no death nor definitive tracheotomy. LS is a rare condition that is often associated to other loco-regional localizations. LS are often difficult to manage. Survival is good but may require a medico-surgical approach.

  8. Genetic variants at 1p11.2 and breast cancer risk: a two-stage study in Chinese women.

    Directory of Open Access Journals (Sweden)

    Yue Jiang

    Full Text Available BACKGROUND: Genome-wide association studies (GWAS have identified several breast cancer susceptibility loci, and one genetic variant, rs11249433, at 1p11.2 was reported to be associated with breast cancer in European populations. To explore the genetic variants in this region associated with breast cancer in Chinese women, we conducted a two-stage fine-mapping study with a total of 1792 breast cancer cases and 1867 controls. METHODOLOGY/PRINCIPAL FINDINGS: Seven single nucleotide polymorphisms (SNPs including rs11249433 in a 277 kb region at 1p11.2 were selected and genotyping was performed by using TaqMan® OpenArray™ Genotyping System for stage 1 samples (878 cases and 900 controls. In stage 2 (914 cases and 967 controls, three SNPs (rs2580520, rs4844616 and rs11249433 were further selected and genotyped for validation. The results showed that one SNP (rs2580520 located at a predicted enhancer region of SRGAP2 was consistently associated with a significantly increased risk of breast cancer in a recessive genetic model [Odds Ratio (OR  =  1.66, 95% confidence interval (CI  =  1.16-2.36 for stage 2 samples; OR  =  1.51, 95% CI  =  1.16-1.97 for combined samples, respectively]. However, no significant association was observed between rs11249433 and breast cancer risk in this Chinese population (dominant genetic model in combined samples: OR  =  1.20, 95% CI  =  0.92-1.57. CONCLUSIONS/SIGNIFICANCE: Genotypes of rs2580520 at 1p11.2 suggest that Chinese women may have different breast cancer susceptibility loci, which may contribute to the development of breast cancer in this population.

  9. Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry.

    Science.gov (United States)

    Wang, Shengfeng; Qian, Frank; Zheng, Yonglan; Ogundiran, Temidayo; Ojengbede, Oladosu; Zheng, Wei; Blot, William; Nathanson, Katherine L; Hennis, Anselm; Nemesure, Barbara; Ambs, Stefan; Olopade, Olufunmilayo I; Huo, Dezheng

    2018-04-01

    Few studies have evaluated the performance of existing breast cancer risk prediction models among women of African ancestry. In replication studies of genetic variants, a change in direction of the risk association is a common phenomenon. Termed flip-flop, it means that a variant is risk factor in one population but protective in another, affecting the performance of risk prediction models. We used data from the genome-wide association study (GWAS) of breast cancer in the African diaspora (The Root consortium), which included 3686 participants of African ancestry from Nigeria, USA, and Barbados. Polygenic risk scores (PRSs) were constructed from the published odds ratios (ORs) of four sets of susceptibility loci for breast cancer. Discrimination capacity was measured using the area under the receiver operating characteristic curve (AUC). Flip-flop phenomenon was observed among 30~40% of variants across studies. Using the 34 variants with consistent directionality among previous studies, we constructed a PRS with AUC of 0.531 (95% confidence interval [CI]: 0.512-0.550), which is similar to the PRS using 93 variants and ORs from European ancestry populations (AUC = 0.525, 95% CI: 0.506-0.544). Additionally, we found the 34-variant PRS has good discriminative accuracy in women with family history of breast cancer (AUC = 0.586, 95% CI: 0.532-0.640). We found that PRS based on variants identified from prior GWASs conducted in women of European and Asian ancestries did not provide a comparable degree of risk stratification for women of African ancestry. Further large-scale fine-mapping studies in African ancestry populations are desirable to discover population-specific genetic risk variants.

  10. A prevalence-based association test for case-control studies.

    Science.gov (United States)

    Ryckman, Kelli K; Jiang, Lan; Li, Chun; Bartlett, Jacquelaine; Haines, Jonathan L; Williams, Scott M

    2008-11-01

    Genetic association is often determined in case-control studies by the differential distribution of alleles or genotypes. Recent work has demonstrated that association can also be assessed by deviations from the expected distributions of alleles or genotypes. Specifically, multiple methods motivated by the principles of Hardy-Weinberg equilibrium (HWE) have been developed. However, these methods do not take into account many of the assumptions of HWE. Therefore, we have developed a prevalence-based association test (PRAT) as an alternative method for detecting association in case-control studies. This method, also motivated by the principles of HWE, uses an estimated population allele frequency to generate expected genotype frequencies instead of using the case and control frequencies separately. Our method often has greater power, under a wide variety of genetic models, to detect association than genotypic, allelic or Cochran-Armitage trend association tests. Therefore, we propose PRAT as a powerful alternative method of testing for association.

  11. Three Women Scientists and Their Role in the History of Genetics.

    Science.gov (United States)

    Venville, Grady; Milne, Catherine

    1999-01-01

    Draws on an array of historical documents to delve into the history of genetics and the lives and scientific accomplishments of female geneticists that include Nettie Stevens, Rosalind Franklin, and Barbara McClintock. (Contains 20 references.) (Author/WRM)

  12. An investigation of breast cancer risk factors in Cyprus: a case control study

    Directory of Open Access Journals (Sweden)

    Hadjisavvas Andreas

    2010-08-01

    Full Text Available Abstract Background Breast cancer is the most common form of malignancy affecting women worldwide. It is also the leading cancer in females in Cyprus, with approximately 400 new cases diagnosed annually. It is well recognized that genetic variation as well as environmental factors modulate breast cancer risk. The main aim of this study was to assess the strength of associations between recognized risk factors and breast cancer among Cypriot women. This is the first epidemiological investigation on risk factors of breast cancer among the Cypriot female population. Methods We carried out a case-control study, involving 1,109 breast cancer patients and a group of 1,177 controls who were recruited while participating in the National screening programme for breast cancer. Information on demographic characteristics and potential risk factors were collected from both groups during a standardized interview. Logistic regression analysis was used to assess the strength of the association between each risk factor and breast cancer risk, before and after adjusting for the possible confounding effect of other factors. Results In multivariable models, family history of breast cancer (OR 1.64, 95% CI 1.23, 2.19 was the strongest predictor of breast cancer risk in the Cypriot population. Late menarche (OR 0.64, 95% CI 0.45, 0.92 among women reaching menarche after the age of 15 vs. before the age of 12 and breastfeeding (OR 0.74, 95% CI 0.59, 0.92 exhibited a strong protective effect. In the case of breastfeeding, the observed effect appeared stronger than the effect of pregnancy alone. Surprisingly, we also observed an inverse association between hormone replacement therapy (HRT although this may be a product of the retrospective nature of this study. Conclusion Overall the findings of our study corroborate with the results of previous investigations on descriptive epidemiology of risk factors for breast cancer. This investigation provides important background

  13. Distribution of human papilloma virus type 16 E6/E7 gene mutation in cervical precancer or cancer: A case control study in Guizhou Province, China.

    Science.gov (United States)

    Yang, Yingjie; Ren, Jie; Zhang, Qizhu

    2016-02-01

    HPV-16 varies geographically and is correlated with cervical cancer genesis and progression. This study aimed to determine the distribution of HPV-16 E6/E7 genetic variation in patients with invasive cervical cancer or precancer in Guizhou Province, China. A case-control study was designed, and the distribution of HPV-16 E6/E7 genetic variation was compared among women with cervical cancer, precancer, and sexually active without cervical lesion. HPV infection was detected through flow-through hybridization and gene chip techniques to determine the prevalence of HPV 16 E6/E7 genetic variation. Among 90 specimens (30 cervical cancer, 30 precancer, 30 controls), 81 were subjected to HPV-16 E6/E7 gene sequencing. The rates of DNA sequence mutation and amino acid mutation were 76.5% (62/81) and 66.7% (54/81), respectively. Both E6 and E7 genes showed higher mutation rate than their prototypes. The prevalence of E6/E7 mutation significantly differed between the cervical cancer and the controls (P prevalent in cervical cancer or precancer than those in the controls. The possible correlation between genetic variation and cancerigenesis may be used to design an HPV vaccine for cervical carcinoma. © 2015 Wiley Periodicals, Inc.

  14. Periodontal disease and spontaneous preterm birth: a case control study

    Directory of Open Access Journals (Sweden)

    Eley Barry

    2006-07-01

    Full Text Available Abstract Background Several studies have suggested an association between periodontal disease and prematurity but this finding has not been consistently observed. Methods Case control study. Cases (n = 50 were women who had delivered after spontaneous preterm labor at Results There was no difference in the proportion of sites with significant attachment loss (≥3 mm: Cases-3.2%, Controls-2.2% p = 0.21. The gingival crevicular fluid concentrations of elastase and gingipain were elevated in cases vs. controls 238.8 uU/ul vs. 159.6 uU/ul p = .007 and 2.70 uU/ul vs. 1.56 uU/ul p = .001. On multivariate analysis, the mean log concentration of elastase, but not of gingipain, remained a significant predictor of preterm labor p = .0.015. Conclusion We found no evidence that clinical periodontal disease is associated with spontaneous preterm birth. Elevated gingival crevicular fluid levels of elastase were associated with preterm birth but further research is needed before this can be assumed to be a causal relationship.

  15. Risk Factors For Ectopic Pregnancy : A Case Control Study

    Directory of Open Access Journals (Sweden)

    Deshmukh J.S

    1999-01-01

    Full Text Available Research question: Which are the risk factors for ectopic pregnancy . Objective: To study the strength of association between hypothesised risk factors and ectopic pregnancy. Study design: Unmatched case- control study. Setting: Government Medical College, Hospital, Nagpur. Participants: 133 cases of ectopic pregnancy and equal number of controls (non pregnant women admitted to study hospital. Study variables : Pelvic inflammatory diseases, sexually transmitted diseases, IUD use at conception , past use of IUD, prior ectopic pregnancy, OC pills use at the time of conception, past use of OC pills, induced abortion, spontaneous abortion, infertility and pelvic and abdominal surgery. Statistical analysis: Odds ratios & their 95% CI, Pearson’s chi square test, unconditional logistic regression analysis and population attributable risk proportion. Results : Use of IUD at conception, prior ectopic pregnancy , pelvic inflammatory disease, sexually transmitted diseases, infertility, OC pills use at the time of conception, past use of IUD and induced abortion were found to be significantly associated with ectopic pregnancy. Conclusion: Identification of these risk factors for etopic pregnancy shall help in early detection and appropriate management in an individual case and it may help in devising a comprehensive preventive strategy for ectopic pregnancy

  16. Genetic predictor of working memory and prefrontal function in women with HIV.

    Science.gov (United States)

    Sundermann, Erin E; Bishop, Jeffrey R; Rubin, Leah H; Little, Deborah M; Meyer, Vanessa J; Martin, Eileen; Weber, Kathleen; Cohen, Mardge; Maki, Pauline M

    2015-02-01

    The Val158Met (rs4680) single-nucleotide polymorphism (SNP) of the catechol-O-methyltransferase gene (COMT) influences executive function and prefrontal function through its effect on dopamine (DA) metabolism. Both HIV and the Val allele of the Val158Met SNP are associated with compromised executive function and inefficient prefrontal function. The present study used behavioral and neuroimaging techniques to determine independent and interactive associations between HIV serostatus and COMT genotype on working memory and prefrontal function in women. For the behavioral study, 54 HIV-infected and 33 HIV-uninfected women completed the 0-, 1-, and 2-back conditions of the verbal N-back, a working memory test. For the imaging study, 36 women (23 HIV-infected, 13 HIV-uninfected) underwent functional magnetic resonance imaging (fMRI) assessments while completing the N-back task. HIV-infected women demonstrated significantly worse N-back performance compared with HIV-uninfected women (p women performed significantly worse than HIV-uninfected controls across N-back conditions (p working memory deficits and altered prefrontal function in HIV-infected individuals.

  17. Risk Factors Profile of Shoulder Dystocia in Oman: A Case Control Study

    OpenAIRE

    Maha M. Al-Khaduri; Rania Mohammed Abudraz; Sayed G. Rizvi; Yahya M. Al-Farsi

    2014-01-01

    Objective: This study aimed to assess the risk factor profile of shoulder dystocia and associated neonatal complications in Oman, a developing Arab country. Methods: A retrospective case-control study was conducted among 111 cases with dystocia and 111 controls, identified during 1994-2006 period in a tertiary care hospital in Oman. Controls were randomly selected among women who did not have dystocia, and were matched to cases on the day of delivery. Data related to potential risk factor...

  18. Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

    DEFF Research Database (Denmark)

    Mehta, Divya; Tropf, Felix C; Gratten, Jacob

    2016-01-01

    IMPORTANCE: A recently published study of national data by McGrath et al in 2014 showed increased risk of schizophrenia (SCZ) in offspring associated with both early and delayed parental age, consistent with a U-shaped relationship. However, it remains unclear if the risk to the child is due......), reflecting the published relationship between maternal age and SCZ risk in offspring by McGrath et al in 2014. CONCLUSIONS AND RELEVANCE: This study provides evidence for a significant overlap between genetic factors associated with risk of SCZ and genetic factors associated with AFB. It has been reported...

  19. Genetic variation in exon 17 of INSR is associated with insulin resistance and hyperandrogenemia among lean Indian women with polycystic ovary syndrome.

    Science.gov (United States)

    Mukherjee, Srabani; Shaikh, Nuzhat; Khavale, Sushma; Shinde, Gayatri; Meherji, Pervin; Shah, Nalini; Maitra, Anurupa

    2009-05-01

    Polycystic ovary syndrome (PCOS) is a multigenic disorder, and insulin resistance is one of its hallmark features. Polymorphisms in exon 17 of insulin receptor (INSR) gene are reported to be associated with PCOS. We investigated this association in Indian women and its putative relationship with PCOS associated traits, which has not been explored so far. In this case control study, the polymorphisms were investigated by direct sequencing in 180 women with PCOS and 144 age matched controls. Clinical, anthropometric, biochemical, and hormonal parameters were also estimated. The silent C/T polymorphism at His1058 in exon 17 of INSR was found to be present in our study population. The polymorphic genotype (CT+TT) was significantly associated with PCOS in lean women (chi(2)=8.493, df=1, P=0.004). It showed association with higher fasting insulin levels (P=0.02), homeostasis model assessment of insulin resistance (P=0.005), free androgen index (P=0.03), and lower quantitative insulin sensitivity check index (P=0.004) in lean PCOS women. No other novel or known polymorphism was identified in exon 17 in this cohort. The study shows significant association of C/T polymorphism at His1058 of INSR with PCOS in the lean rather than obese Indian women. Its association with indices of insulin resistance and hyperandrogenemia is also seen in the same group. The findings strengthen the concept that pathogenesis of PCOS is different in lean and obese women.

  20. Robust estimation for homoscedastic regression in the secondary analysis of case-control data

    KAUST Repository

    Wei, Jiawei

    2012-12-04

    Primary analysis of case-control studies focuses on the relationship between disease D and a set of covariates of interest (Y, X). A secondary application of the case-control study, which is often invoked in modern genetic epidemiologic association studies, is to investigate the interrelationship between the covariates themselves. The task is complicated owing to the case-control sampling, where the regression of Y on X is different from what it is in the population. Previous work has assumed a parametric distribution for Y given X and derived semiparametric efficient estimation and inference without any distributional assumptions about X. We take up the issue of estimation of a regression function when Y given X follows a homoscedastic regression model, but otherwise the distribution of Y is unspecified. The semiparametric efficient approaches can be used to construct semiparametric efficient estimates, but they suffer from a lack of robustness to the assumed model for Y given X. We take an entirely different approach. We show how to estimate the regression parameters consistently even if the assumed model for Y given X is incorrect, and thus the estimates are model robust. For this we make the assumption that the disease rate is known or well estimated. The assumption can be dropped when the disease is rare, which is typically so for most case-control studies, and the estimation algorithm simplifies. Simulations and empirical examples are used to illustrate the approach.

  1. Robust estimation for homoscedastic regression in the secondary analysis of case-control data

    KAUST Repository

    Wei, Jiawei; Carroll, Raymond J.; Mü ller, Ursula U.; Keilegom, Ingrid Van; Chatterjee, Nilanjan

    2012-01-01

    Primary analysis of case-control studies focuses on the relationship between disease D and a set of covariates of interest (Y, X). A secondary application of the case-control study, which is often invoked in modern genetic epidemiologic association studies, is to investigate the interrelationship between the covariates themselves. The task is complicated owing to the case-control sampling, where the regression of Y on X is different from what it is in the population. Previous work has assumed a parametric distribution for Y given X and derived semiparametric efficient estimation and inference without any distributional assumptions about X. We take up the issue of estimation of a regression function when Y given X follows a homoscedastic regression model, but otherwise the distribution of Y is unspecified. The semiparametric efficient approaches can be used to construct semiparametric efficient estimates, but they suffer from a lack of robustness to the assumed model for Y given X. We take an entirely different approach. We show how to estimate the regression parameters consistently even if the assumed model for Y given X is incorrect, and thus the estimates are model robust. For this we make the assumption that the disease rate is known or well estimated. The assumption can be dropped when the disease is rare, which is typically so for most case-control studies, and the estimation algorithm simplifies. Simulations and empirical examples are used to illustrate the approach.

  2. Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women

    NARCIS (Netherlands)

    Balder, Jan-Willem; Rimbert, Antoine; Zhang, Xiang; Viel, Martijn; Kanninga, Roan; van Dijk, Freerk; Lansberg, Peter; Sinke, Richard; Kuivenhoven, Jan Albert

    2018-01-01

    BACKGROUND: Atherosclerosis starts in childhood but low-density lipoprotein cholesterol (LDL-C), a causal risk factor, is mostly studied and dealt with when clinical events have occurred. Women are usually affected later in life than men and are underdiagnosed, undertreated, and understudied in

  3. [Hormonotherapy for breast cancer prevention: What about women with genetic predisposition to breast cancer?].

    Science.gov (United States)

    Sénéchal, Claire; Reyal, Fabien; Callet, Nasrine; This, Pascale; Noguès, Catherine; Stoppa-Lyonnet, Dominique; Fourme, Emmanuelle

    2016-03-01

    In France, women carrying BRCA1/2 mutation, at an identified high risk of breast cancer are recommended to undergo breast MRI screening. That screening does not however prevent the risk of developing a breast cancer. The only alternative to breast cancer screening available in France is surgical prevention by prophylactic mastectomy. An interesting option for women who wish to reduce their breast cancer risk, but are unready for prophylactic mastectomy is a preventive hormonal treatment by aromatase inhibitors, or selective estrogens receptor modulators (SERMs). Reliable clinical trials show the efficiency of tamoxifen, raloxifen, exemestane, and anastrozole especially, in reducing breast cancer incidence by 33%, 34%, 65% and 53% respectively. This article tries to sum up the main published trials of breast cancer prevention with hormonal treatment, and presents the latest American and English clinical guidelines concerning hormonal prevention for women at high risk of breast cancer, and starts thinking about the possibilities of hormonoprevention, especially among women carrying a BRCA1/2 mutation in France. Copyright © 2016 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.

  4. Effects and Costs of Breast Cancer screening in women with a familial or genetic predisposition

    NARCIS (Netherlands)

    A.J. Rijnsburger (Rian)

    2005-01-01

    textabstract"Women with a BRCA1 or BRCA2 mutation, who have a considerable increased risk of developing breast cancer, now face the choice of intensive screening, prophylactic surgery or chemoprevention. The efficacy of the various medical options and the durability of its effects are of major

  5. The Genetic Contribution of West-African Ancestry to Protection against Central Obesity in African-American Men but Not Women: Results from the ARIC and MESA Studies.

    Science.gov (United States)

    Klimentidis, Yann C; Arora, Amit; Zhou, Jin; Kittles, Rick; Allison, David B

    2016-01-01

    Over 80% of African-American (AA) women are overweight or obese. A large racial disparity between AA and European-Americans (EA) in obesity rates exists among women, but curiously not among men. Although socio-economic and/or cultural factors may partly account for this race-by-sex interaction, the potential involvement of genetic factors has not yet been investigated. Among 2814 self-identified AA in the Atherosclerosis Risk in Communities study, we estimated each individual's degree of West-African genetic ancestry using 3437 ancestry informative markers. We then tested whether sex modifies the association between West-African genetic ancestry and body mass index (BMI), waist-circumference (WC), and waist-to-hip ratio (WHR), adjusting for income and education levels, and examined associations of ancestry with the phenotypes separately in males and females. We replicated our findings in the Multi-Ethnic Study of Atherosclerosis (n = 1611 AA). In both studies, we find that West-African ancestry is negatively associated with obesity, especially central obesity, among AA men, but not among AA women (pinteraction = 4.14 × 10(-5) in pooled analysis of WHR). In conclusion, our results suggest that the combination of male gender and West-African genetic ancestry is associated with protection against central adiposity, and suggest that the large racial disparity that exists among women, but not men, may be at least partly attributed to genetic factors.

  6. Joint associations between genetic variants and reproductive factors in glioma risk among women.

    Science.gov (United States)

    Wang, Sophia S; Hartge, Patricia; Yeager, Meredith; Carreón, Tania; Ruder, Avima M; Linet, Martha; Inskip, Peter D; Black, Amanda; Hsing, Ann W; Alavanja, Michael; Beane-Freeman, Laura; Safaiean, Mahboobeh; Chanock, Stephen J; Rajaraman, Preetha

    2011-10-15

    In a pooled analysis of 4 US epidemiologic studies (1993-2001), the authors evaluated the role of 5 female reproductive factors in 357 women with glioma and 822 controls. The authors further evaluated the independent association between 5 implicated gene variants and glioma risk among the study population, as well as the joint associations of female reproductive factors (ages at menarche and menopause, menopausal status, use of oral contraceptives, and menopausal hormone therapy) and these gene variants on glioma risk. Risk estimates were calculated as odds ratios and 95% confidence intervals that were adjusted for age, race, and study. Three of the gene variants (rs4295627, a variant of CCDC26; rs4977756, a variant of CDKN2A and CDKN2B; and rs6010620, a variant of RTEL1) were statistically significantly associated with glioma risk in the present population. Compared with women who had an early age at menarche (<12 years of age), those who reported menarche at 12-13 years of age or at 14 years of age or older had a 1.7-fold higher risk and a 1.9-fold higher risk of glioma, respectively (P for trend = 0.009). Postmenopausal women and women who reported ever having used oral contraceptives had a decreased risk of glioma. The authors did not observe joint associations between these reproductive characteristics and the implicated glioma gene variants. These results require replication, but if confirmed, they would suggest that the gene variants that have previously been implicated in the development of glioma are unlikely to act through the same hormonal mechanisms in women.

  7. Effects of interleukin-1 receptor antagonist (IL-1Ra) gene 86 bp VNTR polymorphism on recurrent pregnancy loss: a case-control study.

    Science.gov (United States)

    Hajizadeh, Yasamin Sayed; Emami, Elina; Nottagh, Marina; Amini, Zahra; Maroufi, Nazila Fathi; Azimian, Saba Haj; Isazadeh, Alireza

    2017-05-26

    Objective Recurrent pregnancy loss (RPL) is a heterogeneous disease which is defined as two or more consecutive fetal losses during early pregnancy. Interleukin-1 receptor antagonist (IL-1Ra) is a anti-inflammatory cytokine, which inhibits IL-1 activity by binding to its receptors. The aim of this study was to investigate the association between RPL and IL-1Ra intron 2 polymorphism (86 bp VNTR) in Iranian women. Materials and methods In this case control study, genetic polymorphism was studied in 140 RPL patients and 140 healthy women as controls. Genomic DNA was extracted from the blood samples and polymorphism analysis was performed using the polymerase chain reaction (PCR) method. Finally, the data obtained were analyzed by statistical software. Results We found an increased frequency of the IL-1Ra 1/1 genotype in the case group compared to the control group. Whereas, the frequency of IL-1Ra genotype 1/2 was higher in control group than in the case group. However, we did not observe an association between IL-1Ra 86 bp VNTR polymorphism in intron 2 and RPL patients (p > 0.05). Conclusion IL-1Ra VNTR polymorphism may not be a genetic factor for RPL. However, investigation of IL-1Ra polymorphism was recommended in other populations and patients with recurrent pregnancy loss.

  8. Oestrogen receptor α gene haplotype and postmenopausal breast cancer risk: a case control study

    International Nuclear Information System (INIS)

    Wedrén, Sara; Stiger, Fredrik; Persson, Ingemar; Baron, John; Weiderpass, Elisabete; Lovmar, Lovisa; Humphreys, Keith; Magnusson, Cecilia; Melhus, Håkan; Syvänen, Ann-Christine; Kindmark, Andreas; Landegren, Ulf; Fermér, Maria Lagerström

    2004-01-01

    Oestrogen receptor α, which mediates the effect of oestrogen in target tissues, is genetically polymorphic. Because breast cancer development is dependent on oestrogenic influence, we have investigated whether polymorphisms in the oestrogen receptor α gene (ESR1) are associated with breast cancer risk. We genotyped breast cancer cases and age-matched population controls for one microsatellite marker and four single-nucleotide polymorphisms (SNPs) in ESR1. The numbers of genotyped cases and controls for each marker were as follows: TA n , 1514 cases and 1514 controls; c.454-397C → T, 1557 cases and 1512 controls; c.454-351A → G, 1556 cases and 1512 controls; c.729C → T, 1562 cases and 1513 controls; c.975C → G, 1562 cases and 1513 controls. Using logistic regression models, we calculated odds ratios (ORs) and 95% confidence intervals (CIs). Haplotype effects were estimated in an exploratory analysis, using expectation-maximisation algorithms for case-control study data. There were no compelling associations between single polymorphic loci and breast cancer risk. In haplotype analyses, a common haplotype of the c.454-351A → G or c.454-397C → T and c.975C → G SNPs appeared to be associated with an increased risk for ductal breast cancer: one copy of the c.454-351A → G and c.975C → G haplotype entailed an OR of 1.19 (95% CI 1.06–1.33) and two copies with an OR of 1.42 (95% CI 1.15–1.77), compared with no copies, under a model of multiplicative penetrance. The association with the c.454-397C → T and c.975C → G haplotypes was similar. Our data indicated that these haplotypes were more influential in women with a high body mass index. Adjustment for multiple comparisons rendered the associations statistically non-significant. We found suggestions of an association between common haplotypes in ESR1 and the risk for ductal breast cancer that is stronger in heavy women

  9. Parenteral exposure to pesticides and occurence of congenital malformations: hospital-based case-control study.

    Science.gov (United States)

    Ueker, Marly Eliane; Silva, Vivianne Monteiro; Moi, Gisele Pedroso; Pignati, Wanderley Antonio; Mattos, Ines Echenique; Silva, Ageo Mário Cândido

    2016-08-12

    Most fetal defects are associated with genetic and environmental causes, among them, exposure of pregnant women to intensive pesticide use. Agribusiness is the economic basis of the state of Mato Grosso, the largest consumer of pesticides of all Brazilian states. The objective of this study was to investigate the association between past parental exposure to pesticides and the occurrence of congenital malformations in children in Mato Grosso, Brazil. This hospital-based case-control study was conducted in Cuiabá, the capital of Mato Grosso, from March to October 2011. Data was collected in all public, private, and health plan referral hospitals that provide care for pregnant women in the state of Mato Grosso and were situated in Cuiabá. Cases were children under 5 years of age with congenital malformations classified in Chapter XVIII of the International Classification of Diseases-10 and controls were children within the same age range, without congenital malformations, treated at the same hospitals. Malformation-related data was obtained from the patients' medical records. Socioeconomic data and information about parental exposure to pesticides were obtained in an interview with the mother using a standardized questionnaire. We conducted multivariate logistic regression to assess the relation between parent report of past pesticide use and congenital malformations. We also assessed effect modification to verify whether low maternal education level modified the association between exposure and our outcome. We observed positive effect modification of the association of paternal past exposure to pesticide and congenital malformation in the offspring by maternal education for mothers with low educational level (OR = 8.40, 95 % CI 2.17-32.52), father's work related to farming (OR = 4.65, 95 % CI 1.03-20.98) and paternal past exposure to pesticides (OR = 4.15, 95 % CI 1.24-13.66). These findings provide further evidence that paternal exposure to

  10. The structure of genetic and environmental risk factors for phobias in women.

    Science.gov (United States)

    Czajkowski, N; Kendler, K S; Tambs, K; Røysamb, E; Reichborn-Kjennerud, T

    2011-09-01

    To explore the genetic and environmental factors underlying the co-occurrence of lifetime diagnoses of DSM-IV phobia. Female twins (n=1430) from the population-based Norwegian Institute of Public Health Twin Panel were assessed at personal interview for DSM-IV lifetime specific phobia, social phobia and agoraphobia. Comorbidity between the phobias were assessed by odds ratios (ORs) and polychoric correlations and multivariate twin models were fitted in Mx. Phenotypic correlations of lifetime phobia diagnoses ranged from 0.55 (agoraphobia and social phobia, OR 10.95) to 0.06 (animal phobia and social phobia, OR 1.21). In the best fitting twin model, which did not include shared environmental factors, heritability estimates for the phobias ranged from 0.43 to 0.63. Comorbidity between the phobias was accounted for by two common liability factors. The first loaded principally on animal phobia and did not influence the complex phobias (agoraphobia and social phobia). The second liability factor strongly influenced the complex phobias, but also loaded weak to moderate on all the other phobias. Blood phobia was mainly influenced by a specific genetic factor, which accounted for 51% of the total and 81% of the genetic variance. Phobias are highly co-morbid and heritable. Our results suggest that the co-morbidity between phobias is best explained by two distinct liability factors rather than a single factor, as has been assumed in most previous multivariate twin analyses. One of these factors was specific to the simple phobias, while the other was more general. Blood phobia was mainly influenced by disorder specific genetic factors.

  11. 77 FR 11136 - Proposed Collection; Comment Request; a Multi-Center International Hospital-Based Case-Control...

    Science.gov (United States)

    2012-02-24

    ... proposed projects to be submitted to the Office of Management and Budget (OMB) for review and approval... conclusively established and the identification of the key, functional alleles in gene regions associated with... underlying genetic structure. A multidisciplinary case- control study of lymphoma in Asia, where lymphoma...

  12. Selection of controls in case-control studies on maternal medication use and risk of birth defects

    NARCIS (Netherlands)

    Bakker, M.K.; de Walle, H.E.; Dequito, A.; van den Berg, P.B.; de Jong-van den Berg, L.T.

    BACKGROUND:: In case-control studies on teratogenic risks of maternal drug use during pregnancy, the use of normal or malformed controls may lead to recall-bias or selection bias. This can be avoided by using controls with a genetic disorder. However, researchers are hesitant to use these as

  13. Risk factors for neural tube defects in Riyadh City, Saudi Arabia: Case-control study.

    Science.gov (United States)

    Salih, Mustafa A M; Murshid, Waleed R; Mohamed, Ashry Gad; Ignacio, Lena C; de Jesus, Julie E; Baabbad, Rubana; El Bushra, Hassan M

    2014-01-01

    Both genetic and non-genetic environmental factors are involved in the etiology of neural tube defects (NTD) which affect 0.5-2/1000 pregnancies worldwide. This study aimed to explore the risk factors for the development of NTD in Saudi population, and highlight identifiable and preventable causes. Similar studies are scarce in similar populations ofthe Arabian Peninsula and North Africa. This is an unmatched concurrent case-control study including NTD cases born at King Khalid University Hospital, Riyadh during a 4-year period (2002-2006). The case-control study included 25 cases and 125 controls (case: control ratio of 1:5). Years of formal education, employment, household environment (including availability of air conditioning) and rate of parental consanguinity did not differ between mothers of cases and controls. Significantly higher proportion of mothers of cases had history of stillbirth compared to control mothers (16% vs 4.1%, P=0.02). Also family history of hydrocephalus and congenital anomalies were more prevalent in cases than controls (P values=0.0000 and 0.003, respectively). There was significant protective effect of periconceptional folic acid consumption both prior to conception (OR 0.02, 95% CI 0.00-0.07) and during the first 6 weeks of conception (OR 0.13, 95% CI 0.04-0.39). Further research, including a larger cohort, is required to enable ascertainment of gene-nutrient and gene environment interactions associated with NTD in Saudi Arabia.

  14. Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

    DEFF Research Database (Denmark)

    Beaumont, Robin N; Warrington, Nicole M; Cavadino, Alana

    2018-01-01

    determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86,577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother-child pairs to quantify the separate maternal and fetal...

  15. Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations

    Directory of Open Access Journals (Sweden)

    Ariel B. Ganz

    2017-01-01

    Full Text Available Single nucleotide polymorphisms (SNPs in choline metabolizing genes are associated with disease risk and greater susceptibility to organ dysfunction under conditions of dietary choline restriction. However, the underlying metabolic signatures of these variants are not well characterized and it is unknown whether genotypic differences persist at recommended choline intakes. Thus, we sought to determine if common genetic risk factors alter choline dynamics in pregnant, lactating, and non-pregnant women consuming choline intakes meeting and exceeding current recommendations. Women (n = 75 consumed 480 or 930 mg choline/day (22% as a metabolic tracer, choline-d9 for 10–12 weeks in a controlled feeding study. Genotyping was performed for eight variant SNPs and genetic differences in metabolic flux and partitioning of plasma choline metabolites were evaluated using stable isotope methodology. CHKA rs10791957, CHDH rs9001, CHDH rs12676, PEMT rs4646343, PEMT rs7946, FMO3 rs2266782, SLC44A1 rs7873937, and SLC44A1 rs3199966 altered the use of choline as a methyl donor; CHDH rs9001 and BHMT rs3733890 altered the partitioning of dietary choline between betaine and phosphatidylcholine synthesis via the cytidine diphosphate (CDP-choline pathway; and CHKA rs10791957, CHDH rs12676, PEMT rs4646343, PEMT rs7946 and SLC44A1 rs7873937 altered the distribution of dietary choline between the CDP-choline and phosphatidylethanolamine N-methyltransferase (PEMT denovo pathway. Such metabolic differences may contribute to disease pathogenesis and prognosis over the long-term.

  16. Genetic relatedness among vaginal and anal isolates of Candida albicans from women with vulvovaginal candidiasis in north-east Brazil.

    Science.gov (United States)

    Araújo Paulo de Medeiros, Mariana; Vieira de Melo, Ana Patrícia; Gonçalves, Sarah Santos; Milan, Eveline Pipolo; Chaves, Guilherme Maranhão

    2014-11-01

    Vulvovaginal candidiasis (VVC) is one of the most common causes of vaginitis and affects about 75% of women of reproductive age. In order to better understand the epidemiology and pathogenesis of this disease, we evaluated genetic relatedness among 62 clinical isolates of Candida albicans sequentially obtained from the anus and vagina of patients with sporadic and recurrent VVC. Evaluation of patients' demographic and clinical data, direct examination, and colony forming units (c.f.u.) counts of vaginal and anal samples were also performed. The genotypes of strains were determined with ABC genotyping and Randomly Amplified Polymorphic DNA (RAPD). Genotype A was the most prevalent (93.6%), followed by genotype C (6.4%), whereas genotype B was not found. We found the maintenance of the same ABC genotype, regardless of the body site of each patient. Most of the vaginal strains suffered microevolution, whereas most of the anal strains were replaced during the period of study. Vaginal and anal isolates of C. albicans obtained simultaneously from the same patient showed the same ABC genotype and high genetic similarity as determined by RAPD. Genotype A seemed to be dominant in both vaginal and anal isolates of patients with VVC. Our results corroborate the hypothesis that there are 'substrains' of the C. albicans vaginal clone successfully established, which dominate in an apparently random manner over the course of time. It is suggested that the anal reservoir constitutes a possible source for vaginal infection in most of the cases. © 2014 The Authors.

  17. Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas: a case control study

    International Nuclear Information System (INIS)

    Skjelbred, Camilla F; Sæbø, Mona; Nexø, Bjørn A; Wallin, Håkan; Hansteen, Inger-Lise; Vogel, Ulla; Kure, Elin H

    2006-01-01

    The risk of sporadic colorectal cancer is mainly associated with lifestyle factors and may be modulated by several genetic factors of low penetrance. Genetic variants represented by single nucleotide polymorphisms in genes encoding key players in the adenoma carcinoma sequence may contribute to variation in susceptibility to colorectal cancer. In this study, we aimed to evaluate whether the recently identified haplotype encompassing genes of DNA repair and apoptosis, is associated with increased risk of colorectal adenomas and carcinomas. We used a case-control study design (156 carcinomas, 981 adenomas and 399 controls) to test the association between polymorphisms in the chromosomal region 19q13.2-3, encompassing the genes ERCC1, ASE-1 and RAI, and risk of colorectal adenomas and carcinomas in a Norwegian cohort. Odds ratio (OR) and 95% confidence interval (CI) were estimated by binary logistic regression model adjusting for age and gender. The ASE-1 polymorphism was associated with an increased risk of adenomas, OR of 1.39 (95% CI 1.06–1.81), which upon stratification was apparent among women only, OR of 1.66 (95% CI 1.15–2.39). The RAI polymorphism showed a trend towards risk reduction for both adenomas (OR of 0.70, 95% CI 0.49–1.01) and carcinomas (OR of 0.49, 95% CI 0.21–1.13) among women, although not significant. Women who were homozygous carriers of the high risk haplotype had an increased risk of colorectal cancer, OR of 2.19 (95% CI 0.95–5.04) compared to all non-carriers although the estimate was not statistically significant. We found no evidence that the studied polymorphisms were associated with risk of adenomas or colorectal cancer among men, but we found weak indications that the chromosomal region may influence risk of colorectal cancer and adenoma development in women

  18. The association of dietary pattern and breast cancer in Jiangsu, China: A population-based case-control study

    NARCIS (Netherlands)

    Lu, S.; Qian, Y.; Huang, X.; Yu, H.; Yang, J.; Han, R.; Su, J.; Du, W.; Zhou, J; Dong, M.; Yu, X.; Duijnhoven, F.; Kampman, E.; Wu, M.

    2017-01-01

    This study aims to examine the association of breast cancer with dietary patterns among Chinese women. A population-based case-control study was conducted in Jiangsu, China. Newly diagnosed primary breast cancer patients were recruited as cases (n = 818). Controls (n = 935), selected from the

  19. The diagnostic role of cervico-vaginal fluid interleukins-1α in endometriosis: A case-control study

    OpenAIRE

    Farahnaz Mardanian; Zahra Sheikh-Soleimani

    2014-01-01

    Background: Endometriosis is a chronic and progressive gynecological disorder and is manifest by dysmenorrhea and a major cause of infertility and chronic pelvic pain. The study was designed to compare the value of cervico-vaginal fluid of interleukin-1? (IL-1?) in patients with and without endometriosis. Materials and Methods: Fifty women were assessed in this case control study. The case group included 25 patients with endometriosis. The control group included 25 women without any evidence ...

  20. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome : preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  1. Preimplantation genetic screening as an alternative to prenatal testing for Down syndrome: preferences of women undergoing in vitro fertilization/intracytoplasmic sperm injection treatment

    NARCIS (Netherlands)

    Twisk, Moniek; Haadsma, Maaike L.; van der Veen, Fulco; Repping, Sjoerd; Mastenbroek, Sebastiaan; Heineman, Maas-Jan; Bossuyt, Patrick M. M.; Korevaar, Johanna C.

    2007-01-01

    Objective: Although the primary goal of preimplantation genetic screening (PGS) is to increase pregnancy rates in women undergoing IVF/intracytoplasmic sperm injection treatment, it has been suggested that it may also be used as an alternative to prenatal testing for Down syndrome. Design: Trade-off

  2. Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition : a meta-analysis

    NARCIS (Netherlands)

    Jansen-van der Weide, Marijke C.; Greuter, Marcel J. W.; Jansen, Liesbeth; Oosterwijk, Jan C.; Pijnappel, Ruud M.; de Bock, Geertruida H.

    Women with familial or genetic aggregation of breast cancer are offered screening outside the population screening programme. However, the possible benefit of mammography screening could be reduced due to the risk of radiation-induced tumours. A systematic search was conducted addressing the

  3. Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition : a meta-analysis

    NARCIS (Netherlands)

    Jansen-van der Weide, Marijke C.; Greuter, Marcel J. W.; Jansen, Liesbeth; Oosterwijk, Jan C.; Pijnappel, Ruud M.; de Bock, Geertruida H.

    2010-01-01

    Women with familial or genetic aggregation of breast cancer are offered screening outside the population screening programme. However, the possible benefit of mammography screening could be reduced due to the risk of radiation-induced tumours. A systematic search was conducted addressing the

  4. Women

    OpenAIRE

    Annesley, Claire; Himmelweit, Susan

    2011-01-01

    This chapter examines the government's approach to fairness in its Comprehensive Spending Review and shows that it fails to acknowledge that men and women start from unequal positions, and that there are many barriers to social mobility other than lack of educational qualifications.\\ud Unequal employment opportunities and unpaid caring responsibilities are given as two examples. As a result women rely on public services to be able to combine care with employment and so cuts in public services...

  5. Circulating folate levels and colorectal adenoma: a case-control study and a meta-analysis.

    Science.gov (United States)

    Park, Yeong Mi; Youn, Jiyoung; Cho, Chang Ho; Kim, Sung Hi; Lee, Jung Eun

    2017-10-01

    The relationship between folate and colorectal neoplasia remains controversial. We examined the association between serum folate concentrations and colorectal adenomas in a case-control study of Korean adults and conducted a meta-analysis. Our case-control study included 113 pairs of case and control who underwent colonoscopy and provided blood samples. We used multivariable conditional logistic regression models to obtain the odds ratios and 95% confidence interval (CIs). For meta-analysis, we identified the relevant studies by searching the PubMed database up to February 2017, included our case-control study and combined the study-specific relative risks (RRs) using a random-effects model. In this case-control study, we included 58 men and 55 women with colorectal adenomas and sex and fasting status matched the controls. We did not find any significant association between the serum folate levels and colorectal adenomas in either men or women. For meta-analysis, a total of eleven studies were included in our analysis and classified into two groups; polyp clearance group (PC) for the studies that included participants who underwent endoscopies and had their polyps removed at baseline; and no polyp clearance group (NPC) for the studies that included participants whose histories of endoscopies were unknown or who underwent their first endoscopies. Four PC (1,311 cases and 1,672 non-cases) and eight NPC studies (3,501 cases and 11,347 non-cases) were included. The combined RRs (95% CIs) comparing the bottom with the top categories of circulating folate levels were 1.07 (0.97-1.18) for the NPC group but 1.45 (1.16-1.74) for the PC group. Low circulating folate levels were associated with new adenoma formation.

  6. Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

    Science.gov (United States)

    Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A

    2013-04-01

    In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.

  7. Effect of genetic variants and traits related to glucose metabolism and their interaction with obesity on breast and colorectal cancer risk among postmenopausal women.

    Science.gov (United States)

    Jung, Su Yon; Sobel, Eric M; Papp, Jeanette C; Zhang, Zuo-Feng

    2017-04-26

    Impaired glucose metabolism-related genetic variants and traits likely interact with obesity and related lifestyle factors, influencing postmenopausal breast and colorectal cancer (CRC), but their interconnected pathways are not fully understood. By stratifying via obesity and lifestyles, we partitioned the total effect of glucose metabolism genetic variants on cancer risk into two putative mechanisms: 1) indirect (risk-associated glucose metabolism genetic variants mediated by glucose metabolism traits) and 2) direct (risk-associated glucose metabolism genetic variants through pathways other than glucose metabolism traits) effects. Using 16 single-nucleotide polymorphisms (SNPs) associated with glucose metabolism and data from 5379 postmenopausal women in the Women's Health Initiative Harmonized and Imputed Genome-Wide Association Studies, we retrospectively assessed the indirect and direct effects of glucose metabolism-traits (fasting glucose, insulin, and homeostatic model assessment-insulin resistance [HOMA-IR]) using two quantitative tests. Several SNPs were associated with breast cancer and CRC risk, and these SNP-cancer associations differed between non-obese and obese women. In both strata, the direct effect of cancer risk associated with the SNP accounted for the majority of the total effect for most SNPs, with roughly 10% of cancer risk due to the SNP that was from an indirect effect mediated by glucose metabolism traits. No apparent differences in the indirect (glucose metabolism-mediated) effects were seen between non-obese and obese women. It is notable that among obese women, 50% of cancer risk was mediated via glucose metabolism trait, owing to two SNPs: in breast cancer, in relation to GCKR through glucose, and in CRC, in relation to DGKB/TMEM195 through HOMA-IR. Our findings suggest that glucose metabolism genetic variants interact with obesity, resulting in altered cancer risk through pathways other than those mediated by glucose metabolism traits.

  8. Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

    Science.gov (United States)

    Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer; Lyons, Sarah; Biesecker, Barbara B; Goodman, Melody S; Kaphingst, Kimberly A

    2017-02-01

    Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

  9. Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

    NARCIS (Netherlands)

    Beaumont, R.N. (Robin N.); N.M. Warrington (Nicole); A. Cavadino (Alana); A.W.R. Tyrrell; M. Nodzenski (Michael); M. Horikoshi (Momoko); F. Geller (Frank); R. Myhre (Ronny); R.C. Richmond (Rebecca C.); Paternoster, L. (Lavinia); J.P. Bradfield (Jonathan); E. Kreiner-Møller (Eskil); V. Huikari (Ville); S. Metrustry (Sarah); K.L. Lunetta (Kathryn); J.N. Painter (Jodie N.); J.J. Hottenga (Jouke Jan); C. Allard (Catherine); S.J. Barton (Sheila J.); Espinosa, A. (Ana); J.A. Marsh (Julie); C. Potter (Catherine); Zhang, G. (Ge); W.Q. Ang (Wei); D. Berry (Diane); L. Bouchard (Luigi); S. Das (Shikta); H. Hakonarson (Hakon); J. Heikkinen (Jani); Helgeland, Ø. (Øyvind); B. Hocher (Berthold); A. Hofman (Albert); H.M. Inskip (Hazel); S.E. Jones (Samuel E.); M. Kogevinas (Manolis); P.A. Lind (Penelope); L. Marullo (Letizia); S.E. Medland (Sarah Elizabeth); Murray, A. (Anna); Murray, J.C. (Jeffrey C.); Njølstad, P.R. (Pa l R.); C. Nohr (Christian); C. Reichetzeder (Christoph); S.M. Ring (Susan); K.S. Ruth (Katherine S.); L. Santa-Marina (Loreto); D.M. Scholtens (Denise M.); Sebert, S. (Sylvain); V. Sengpiel (Verena); Tuke, M.A. (Marcus A.); Vaudel, M. (Marc); M.N. Weedon (Michael); G.A.H.M. Willemsen (Gonneke); Wood, A.R. (Andrew R.); Yaghootkar, H. (Hanieh); Muglia, L.J. (Louis J.); M. Bartels (Meike); C.L. Relton (Caroline); C.E. Pennell (Craig); L. Chatzi (Leda); Estivill, X. (Xavier); Holloway, J.W. (John W.); D.I. Boomsma (Dorret); Montgomery, G.W. (Grant W.); J. Murabito (Joanne); T.D. Spector (Timothy); Power, C. (Christine); Järvelin, M.-R. (Marjo-Ritta); Bisgaard, H. (Hans); Grant, S.F.A. (Struan F.A.); Sørensen, T.I.A. (Thorkild I.A.); Jaddoe, V.W. (Vincent W.); B. Jacobsson (Bo); Melbye, M. (Mads); McCarthy, M.I. (Mark I.); A.T. Hattersley (Andrew); Hayes, M.G. (M. Geoffrey); T.M. Frayling (Timothy); M.-F. Hivert (Marie-France); J.F. Felix (Janine); Hyppönen, E. (Elina); Lowe, W.L. (William L.); Evans, D.M. (David M.); Lawlor, D.A. (Debbie A.); B. Feenstra (Bjarke); R.M. Freathy (Rachel)

    2018-01-01

    textabstractGenome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal

  10. Maternal Risk Factors Associated with the Development of Cleft Lip and Cleft Palate in Mexico: A Case-Control Study.

    Science.gov (United States)

    Angulo-Castro, Emmanuel; Acosta-Alfaro, Luis F; Guadron-Llanos, Alma M; Canizalez-Román, Adrian; Gonzalez-Ibarra, Fernando; Osuna-Ramírez, Ignacio; Murillo-Llanes, Joel

    2017-07-01

    Cleft lip and palate, the most common developmental deformity, is seen worldwide and the etiology involves a combination of genetic and environmental factors. The purpose of this study was to determine the maternal risk factors associated with the development of cleft lip and cleft palate. We conducted a case control study at the Women's Hospital in Culiacan, Mexico. Medical records were analyzed, including patients who delivered babies with and without cleft lip and cleft palate from January 2010 to December 2015. Multiple variables were analyzed, including gestational age, weight at birth, the use of folic acid and multivitamins during pregnancy, smoking, alcohol abuse, the use of recreational drugs, history of sexually transmitted infections, marital status, socioeconomic status, education, and nutritional status. We found that the maternal risk factors with the strongest association for the development of cleft lip and cleft palate were the following: patients who were not taking folic acid during pregnancy [OR 3.27, 95% CI 1.32-8.09], P=0.00; patients who were not taking vitamin supplementation during pregnancy [OR 2.6, 95% CI 1.19-7.27], P=0.02; smoking during pregnancy [OR 2.05, 95% CI 1.23-3.41], P=0.01; and alcohol abuse during pregnancy [OR 1.90, 95% CI 1.17-3.08], P=0.03. The main risk factors associated with the development of cleft lip and cleft palate in a Mexican population at the Women's hospital in Culiacan, Sinaloa, Mexico were smoking, alcohol abuse, and patients not taking folic acid and multivitamins during pregnancy.

  11. Association between ABO and Rh Blood Groups and Risk of Preeclampsia: A Case-Control Study from Iran.

    Science.gov (United States)

    Aghasadeghi, Firoozeh; Saadat, Mostafa

    2017-04-15

    Preeclampsia (PE) is a major cause of maternal and neonatal morbidity and mortality. There is a genetic component in the development of PE with estimated heritability around 0.47. Several studies have investigated the association between maternal ABO blood groups (OMIM 110300) and risk of PE, with contradictory results have emerged. Considering that there is no study in this filed from Iranian population, the present case-control study was carried out at Shiraz (south-west Iran). In this study 331 women; 121 pregnant with PE and 210 normotensive pregnant women were included. Using blood group O (for ABO blood groups) or Rh+ (for Rh blood groups) as a reference, odds ratios (ORs) and its 95% confidence intervals (95% CI) of PE risk were estimated from logistic regression analysis. Although the A (OR = 0.67, 95% CI = 0.39-1.17, P = 0.165), B (OR = 0.86, 95% CI = 0.48-1.53, P = 0.615) and AB (OR = 1.14, 95% CI = 0.37-3.45, P = 0.812) phenotypes showed lower risks compared with the O blood group, statistical analysis indicated that there was no significant association between ABO phenotypes and risk of PE. The frequency of Rh- phenotype was higher among PE patients compared with the control group. However, the association was not significant (OR = 1.79, 95% CI = 0.69-4.65, P = 0.229). Adjusted ORs for age of participants and parity did not change the above-mentioned associations. Our present findings indicate that there is no association between ABO and Rh blood groups and risk of PE in Iranian population.

  12. The association between genetic variants of RUNX2, ADIPOQ and vertebral fracture in Korean postmenopausal women.

    Science.gov (United States)

    Kim, Kyong-Chol; Chun, Hyejin; Lai, ChaoQiang; Parnell, Laurence D; Jang, Yangsoo; Lee, Jongho; Ordovas, Jose M

    2015-03-01

    Contrary to the traditional belief that obesity acts as a protective factor for bone, recent epidemiologic studies have shown that body fat might be a risk factor for osteoporosis and bone fracture. Accordingly, we evaluated the association between the phenotypes of osteoporosis or vertebral fracture and variants of obesity-related genes, peroxisome proliferator-activated receptor-gamma (PPARG), runt-related transcription factor 2 (RUNX2), leptin receptor (LEPR), and adiponectin (ADIPOQ). In total, 907 postmenopausal healthy women, aged 60-79 years, were included in this study. BMD and biomarkers of bone health and adiposity were measured. We genotyped for four single nucleotide polymorphisms (SNPs) from four genes (PPARG, RUNX2, LEPR, ADIPOQ). A general linear model for continuous dependent variables and a logistic regression model for categorical dependent variables were used to analyze the statistical differences among genotype groups. Compared with the TT subjects at rs7771980 in RUNX2, C-carrier (TC + CC) subjects had a lower vertebral fracture risk after adjusting for age, smoking, alcohol, total calorie intake, total energy expenditure, total calcium intake, total fat intake, weight, body fat. Odds ratio (OR) and 95% interval (CI) for the vertebral fracture risk was 0.55 (95% CI 0.32-0.94). After adjusting for multiple variables, the prevalence of vertebral fracture was highest in GG subjects at rs1501299 in ADIPOQ (p = 0.0473). A high calcium intake (>1000 mg/day) contributed to a high bone mineral density (BMD) in GT + TT subjects at rs1501299 in ADIPOQ (p for interaction = 0.0295). Even if the mechanisms between obesity-related genes and bone health are not fully established, the results of our study revealed the association of certain SNPs from obesity-related genes with BMD or vertebral fracture risk in postmenopausal Korean women.

  13. Bridging ImmunoGenomic Data Analysis Workflow Gaps (BIGDAWG): An integrated case-control analysis pipeline.

    Science.gov (United States)

    Pappas, Derek J; Marin, Wesley; Hollenbach, Jill A; Mack, Steven J

    2016-03-01

    Bridging ImmunoGenomic Data-Analysis Workflow Gaps (BIGDAWG) is an integrated data-analysis pipeline designed for the standardized analysis of highly-polymorphic genetic data, specifically for the HLA and KIR genetic systems. Most modern genetic analysis programs are designed for the analysis of single nucleotide polymorphisms, but the highly polymorphic nature of HLA and KIR data require specialized methods of data analysis. BIGDAWG performs case-control data analyses of highly polymorphic genotype data characteristic of the HLA and KIR loci. BIGDAWG performs tests for Hardy-Weinberg equilibrium, calculates allele frequencies and bins low-frequency alleles for k×2 and 2×2 chi-squared tests, and calculates odds ratios, confidence intervals and p-values for each allele. When multi-locus genotype data are available, BIGDAWG estimates user-specified haplotypes and performs the same binning and statistical calculations for each haplotype. For the HLA loci, BIGDAWG performs the same analyses at the individual amino-acid level. Finally, BIGDAWG generates figures and tables for each of these comparisons. BIGDAWG obviates the error-prone reformatting needed to traffic data between multiple programs, and streamlines and standardizes the data-analysis process for case-control studies of highly polymorphic data. BIGDAWG has been implemented as the bigdawg R package and as a free web application at bigdawg.immunogenomics.org. Copyright © 2015 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.

  14. Understanding the Needs of Young Women Regarding Breast Cancer Risk Assessment and Genetic Testing: Convergence and Divergence among Patient-Counselor Perceptions and the Promise of Peer Support

    Directory of Open Access Journals (Sweden)

    Chalanda Evans

    2016-06-01

    Full Text Available Young women from hereditary breast and ovarian cancer (HBOC families face a series of medical decisions regarding their cancer risk management and integrating this information into their life planning. This presents unique medical and psychosocial challenges that exist without comprehensive intervention. To help lay the groundwork for intervention, we conducted a qualitative study among young women from HBOC families (N = 12; Mean age = 22 and cancer genetic counselors (N = 12 to explicate domains most critical to caring for this population. Women and counselors were interviewed by telephone. The predominant interview themes included preventative care planning and risk management, decision making around the pros and cons of cancer risk assessment, medical management, and psychosocial stresses experienced. Young women endorsed psychosocial stress significantly more frequently than did counselors. Both groups noted the short- and long-term decision making challenges and the support and conflict engendered among familial relationships. Our results suggest young women value the support they receive from their families and their genetic counselors, but additional, external supports are needed to facilitate adaptation to HBOC risk. In feedback interviews focused on intervention planning with a subset of these young women (N = 9, they endorsed the predominant interview themes discovered as important intervention content, a structure that would balance discussion of medical information and psychosocial skill-building that could be tailored to the young women’s needs, and delivery by trained peers familiar with HBOC risk.

  15. Genetic risk of progression to type 2 diabetes and response to intensive lifestyle or metformin in prediabetic women with and without a history of gestational diabetes mellitus.

    Science.gov (United States)

    Sullivan, Shannon D; Jablonski, Kathleen A; Florez, Jose C; Dabelea, Dana; Franks, Paul W; Dagogo-Jack, Sam; Kim, Catherine; Knowler, William C; Christophi, Costas A; Ratner, Robert

    2014-04-01

    OBJECTIVE The Diabetes Prevention Program (DPP) trial investigated rates of progression to diabetes among adults with prediabetes randomized to treatment with placebo, metformin, or intensive lifestyle intervention. Among women in the DPP, diabetes risk reduction with metformin was greater in women with prior gestational diabetes mellitus (GDM) compared with women without GDM but with one or more previous live births. RESEARCH DESIGN AND METHODS We asked if genetic variability could account for these differences by comparing β-cell function and genetic risk scores (GRS), calculated from 34 diabetes-associated loci, between women with and without histories of GDM. RESULTS β-Cell function was reduced in women with GDM. The GRS was positively associated with a history of GDM; however, the GRS did not predict progression to diabetes or modulate response to intervention. CONCLUSIONS These data suggest that a diabetes-associated GRS is associated with development of GDM and may characterize women at risk for development of diabetes due to β-cell dysfunction.

  16. Genetic hemoglobin disorders rather than iron deficiency are a major predictor of hemoglobin concentration in women of reproductive age in rural prey Veng, Cambodia.

    Science.gov (United States)

    Karakochuk, Crystal D; Whitfield, Kyly C; Barr, Susan I; Lamers, Yvonne; Devlin, Angela M; Vercauteren, Suzanne M; Kroeun, Hou; Talukder, Aminuzzaman; McLean, Judy; Green, Timothy J

    2015-01-01

    Anemia is common in Cambodian women. Potential causes include micronutrient deficiencies, genetic hemoglobin disorders, inflammation, and disease. We aimed to investigate factors associated with anemia (low hemoglobin concentration) in rural Cambodian women (18-45 y) and to investigate the relations between hemoglobin disorders and other iron biomarkers. Blood samples were obtained from 450 women. A complete blood count was conducted, and serum and plasma were analyzed for ferritin, soluble transferrin receptor (sTfR), folate, vitamin B-12, retinol binding protein (RBP), C-reactive protein (CRP), and α1 acid glycoprotein (AGP). Hemoglobin electrophoresis and multiplex polymerase chain reaction were used to determine the prevalence and type of genetic hemoglobin disorders. Overall, 54% of women had a genetic hemoglobin disorder, which included 25 different genotypes (most commonly, hemoglobin E variants and α(3.7)-thalassemia). Of the 420 nonpregnant women, 29.5% had anemia (hemoglobin 8.3 mg/L), hemoglobin disorders, respectively. There was no biochemical evidence of vitamin A deficiency (RBP 5 mg/L) and 26% (AGP >1 g/L) of nonpregnant women, respectively. By using an adjusted linear regression model, the strongest predictors of hemoglobin concentration were hemoglobin E homozygous disorder and pregnancy status. Other predictors were 2 other heterozygous traits (hemoglobin E and Constant Spring), parity, RBP, log ferritin, and vitamin B-12. Multiple biomarkers for anemia and iron deficiency were significantly influenced by the presence of hemoglobin disorders, hence reducing their diagnostic sensitivity. Further investigation of the unexpectedly low prevalence of IDA in Cambodian women is warranted. © 2015 American Society for Nutrition.

  17. A functional genetic variant in fragile-site gene FATS modulates the risk of breast cancer in triparous women

    International Nuclear Information System (INIS)

    Song, Fangfang; Zhang, Jun; Qiu, Li; Zhao, Yawen; Xing, Pan; Lu, Jiachun; Chen, Kexin; Li, Zheng

    2015-01-01

    The fragile-site associated tumor suppressor (FATS, formerly known as C10orf90), a regulator of p53-p21 pathway has been involved in the onset of breast cancer. Recent data support the idea that the crosstalk between FATS and p53 may be of physiological importance for reproduction during evolution. The aim of the current study was to test the hypothesis that FATS genetic polymorphism can influence the risk of breast cancer. We conducted population-based studies in two independent cohorts comprising 1 532 cases and 1 573 controls in Tianjin of North China, and 804 cases and 835 controls in Guangzhou of South China, coupled with functional validation methods, to investigate the role of FATS genetic variant in breast cancer risk. We identified a functional variant rs11245007 (905C > T, 262D/N) in fragile-site gene FATS that modulates p53 activation. FATS-262 N exhibited stronger E3 activity to polyubiquitinate p53 than did FATS-262D, leading to the stronger transcriptional activity of p53 and more pronounced stabilization of p53 protein and its activation in response to DNA damage. Case–control studies found that CT or TT genotype was significantly associated with a protective effect on breast cancer risk in women with parity ≥ 3, which was not affected by family history. Our findings suggest the role of FATS-p53 signaling cascade in suppressing pregnancy-related carcinogenesis and potential application of FATS genotyping in breast cancer prevention. The online version of this article (doi:10.1186/s12885-015-1570-9) contains supplementary material, which is available to authorized users

  18. A population-based case-control teratologic study of furazidine, a nitrofuran-derivative treatment during pregnancy.

    Science.gov (United States)

    Czeizel, A E; Rockenbauer, M; Sørensen, H T; Olsen, J

    2000-04-01

    To study human teratogenic potential of furazidine treatment during pregnancy. Pair analysis of cases with congenital abnormalities and matched population controls. The Hungarian Case-Control Surveillance of Congenital Abnormalities. 38,151 pregnant women who had newborn infants without any defects (population control group) and 22,865 pregnant women who had newborns or fetuses with congenital abnormalities between 1980 and 1996. In the case group, 157 (0.7%) and in the control group, 254 (0.7%) pregnant women were treated with furazidine. The case-control pair analysis did not indicate a teratogenic potential of furazidine use during the second to third months of gestation, i.e. in the critical period for major congenital abnormalities. Treatment with furazidine during pregnancy did not show teratogenic risk to the fetus.

  19. On estimation of time-dependent attributable fraction from population-based case-control studies.

    Science.gov (United States)

    Zhao, Wei; Chen, Ying Qing; Hsu, Li

    2017-09-01

    Population attributable fraction (PAF) is widely used to quantify the disease burden associated with a modifiable exposure in a population. It has been extended to a time-varying measure that provides additional information on when and how the exposure's impact varies over time for cohort studies. However, there is no estimation procedure for PAF using data that are collected from population-based case-control studies, which, because of time and cost efficiency, are commonly used for studying genetic and environmental risk factors of disease incidences. In this article, we show that time-varying PAF is identifiable from a case-control study and develop a novel estimator of PAF. Our estimator combines odds ratio estimates from logistic regression models and density estimates of the risk factor distribution conditional on failure times in cases from a kernel smoother. The proposed estimator is shown to be consistent and asymptotically normal with asymptotic variance that can be estimated empirically from the data. Simulation studies demonstrate that the proposed estimator performs well in finite sample sizes. Finally, the method is illustrated by a population-based case-control study of colorectal cancer. © 2017, The International Biometric Society.

  20. Genetic variants of genital mycoplasmas and their relation to the clinical course of inflammatory diseases of the urogenital system in women

    Directory of Open Access Journals (Sweden)

    M. R. Rakhmatulina

    2014-01-01

    Full Text Available Goal of the study. To study genetic variability of M. hominis (based on the vaa gene and M. genitalium (based on the mg192 gene derived from biological material samples taken from women with different clinical manifestations of inflammatory diseases of the urogenital system and clinically healthy women (for M. hominis. Materials and methods. Genetic variability of twenty M. hominis samples taken from patients with inflammatory diseases of the urogenital system and twenty M. hominis samples taken from patients without clinical and laboratory signs of inflammatory processes of the urogenital system was studied by the sequence analysis method. Genetic variability of eight M. genitalium samples taken from patients with different clinical signs of inflammatory diseases of the urogenital system was also examined by the sequence analysis method. Results. Three genetic variants of M. hominis based on the vaa gene were found; variant I was revealed more often in patients with clinical manifestations of inflammatory diseases (65.0%, and variant II - in clinically healthy women (60.0%. Three phylogenetic M. gentium groups based on the mg192 gene were revealed; two samples were referred to Groups I and II, and four samples were referred to Group III. Samples from each phylogenetic groups were taken from patients with clinical and laboratory manifestations of cervicitis and urethritis. Conclusion. The study data demonstrate a potential effect of the VAA surface protein on the virulence of opportunistic M. hominis pathogens.

  1. Variation in Women's Preferences Regarding Male Facial Masculinity Is Better Explained by Genetic Differences Than by Previously Identified Context-Dependent Effects.

    Science.gov (United States)

    Zietsch, Brendan P; Lee, Anthony J; Sherlock, James M; Jern, Patrick

    2015-09-01

    Women's preferences for masculine versus feminine male faces are highly variable. According to a dominant theory in evolutionary psychology, this variability results from adaptations that optimize preferences by calibrating them to certain contextual factors, including women's self-perceived attractiveness, short- versus long-term relationship orientation, pathogen disgust sensitivity, and stage of the menstrual cycle. The theory does not account for the possible contribution of genetic variation on women's facial masculinity preference. Using a large sample (N = 2,160) of identical and nonidentical female Finnish twins and their siblings, we showed that the proportion of variation in women's preferences regarding male facial masculinity that was attributable to genetic variation (38%) dwarfed the variation due to the combined effect of contextual factors (< 1%). These findings cast doubt on the importance of these context-dependent effects and may suggest a need for refocusing in the field toward understanding the wide genetic variation in these preferences and how this variation relates to the evolution of sexual dimorphism in faces. © The Author(s) 2015.

  2. Sociocultural Factors Affecting Unplanned Deliveries at Home: A Community-Based Case Control Study.

    Science.gov (United States)

    Catak, Binali; Oner, Can

    2015-01-01

    Unplanned home deliveries can vary with social and cultural factors. The aim of this study was to define the risk factors of unplanned home births. This case control study was conducted in Istanbul, Turkey. The study group was composed of 229 women who had unplanned home delivery. Six factors (presence of health insurance, duration of living in Istanbul, educational status of the woman, the number of individuals living in the household, the age of the woman at the time of current delivery, and the status of having received care prior to delivery) were determined as independent risk factors for unplanned deliveries at home.

  3. Search for genetic markers determining the efficiency of therapy with bisphosphonates in Russian women with postmenopausal osteoporosis: A pilot study

    Directory of Open Access Journals (Sweden)

    M. Yu. Krylov

    2016-01-01

    Full Text Available Many clinical observations show that patient’s genetic background is of great importance in determining the efficiency of treatment.Subjects and methods. The instigation included 50 postmenopausal women with osteoporosis (OP, who were followed up at the Laboratory of osteoporosis, V.A. Nasonova Research Institute of Rheumatology. Body mineral density (BMD in the lumbar spine (LI-IV, femoral neck (FN, and total hip was measured using dual-energy X-ray absorptiometry before and 12 months after treatment with bisphosphonates (BP. To estimate BMD changes, the investigators used ΔBMD in percent (Δ, %.Results and discussion. The whole group showed a positive effect of BP therapy during a year, which was most pronounced in the lumbar spine (mean ΔBMD, about 4%, and a small increment in the proximal hip BMD (mean ΔBMD, about 2%. An analysis indicated a statistically significant correlation of MCP1 -2518A>G polymorphism with changes in LI-IV BMD after 12-month BP therapy. Thus, the female patients who were A allele carriers had a twice lower increase in LI-IV BMD due to BP therapy than those without this allele. The genetic variants of the CCR5 gene, which were related to Δ32 deletion, and IL1β -511C/T polymorphism were also associated with changes in FN BMD following 12-month BP therapy. The BMD increase due to BP therapy in the carriers of the CCR5 Δ32 mutation (wt/Δ32 genotype was 3.5-fold than that in the carriers of the wild type gene (wt/wt genotype. Examination of IL1 -511C/T polymorphism demonstrated that the FN BMD increment in the carriers of the CC genotype was significantly higher than in those of the CT genotype (4.2±4.8 and 1.0±3.7%, respectively; р = 0.023. Our investigation revealed no significant relationship between VDR, LEPR, IL10, MHTFR, PPARG, SPP1, and CCR5(G/A gene polymorphisms and 12-month BP therapy-induced BMD changes in the three study skeletal regions. The findings may suggest that genetic testing may be used to

  4. Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires--an Italian exploratory study.

    Science.gov (United States)

    Catania, Chiara; Feroce, Irene; Barile, Monica; Goldhirsch, Aron; De Pas, Tommaso; de Braud, Filippo; Boselli, Sabrina; Adamoli, Laura; Radice, Davide; Rossi, Alessandra; Spitaleri, Gianluca; Noberasco, Cristina; Bonanni, Bernardo

    2016-03-01

    Subjects referred to genetic counselling for cancer may have heightened perceptions of illness and death, even though they are healthy and this may cause anxiety and reluctance to follow through with consultation. We investigated such perceptions before and after counselling and genetic testing for cancer in a cohort of Italian women. We sought to understand the situation of the women referred by designing questionnaires administered to women at high risk of breast and/or ovarian cancer (those who had had a pathogenic mutation identified in a family member via diagnostic testing). We also assessed women after the diagnosis of breast cancers, but free of disease, to help determine risks in their families. The first questionnaires were administered before initial counselling, and the second were completed within 20 days after the counselling. When a genetic test was proposed, the individual was asked to fill in a third questionnaire; the final questionnaire was administered after the person had received the results of the genetic test. We evaluated 204 subjects. Before counselling, 89 % of the subjects were worried about their risk of disease, 52 % felt "different" because of their personal and family history, and 39 % declared that their life choices were influenced by their fear of cancer. After counselling, 82 % of the subjects felt more relived about their pre-existing fears and stated that this process of being seen in a clinic with genetic expertise had clarified the meaning of disease risk for them, and for 50 %, this experience had positively influenced their life choices. Thirty percentage of the subjects had a positive test; all of them felt safer in being cared for by specifically trained staff. Fifty percentage had a less informative test (e.g. "wild-type" gene found); 84 % of them were not worried by the uncertainty, and overall, 96 % considered counselling to be very useful. Candidates for genetic counselling frequently had heightened their perception

  5. Analysis of the Risk Factors for Aerobic Vaginitis: A Case-Control Study.

    Science.gov (United States)

    Geng, Nv; Wu, Wenjuan; Fan, Aiping; Han, Cha; Wang, Chen; Wang, Yingmei; Xue, Fengxia

    2015-06-09

    Aerobic vaginitis (AV) is a newly defined clinical entity which may interfere with women's reproductive health and have negative effects on pregnancy. This study was to identify the risk factors for AV. Participants in this case-control study included healthy women and women with AV. All participants completed a standardized questionnaire covering sociodemographic factors, sexual behaviors, personal hygiene habits and health behaviors. Uni- and multivariate logistic regression analyses were used for statistical evaluation. A total of 290 women of reproductive age were enrolled. In the multivariate analysis, unmarried status (odds ratio [OR] 2.606, 95% confidence interval [CI] 1.257-5.402), use of an intrauterine device (OR 4.989, 95% CI 1.922-12.952), long-term use of antibiotics (OR 11.176, 95% CI 1.363-91.666) and frequent vaginal douching (OR 4.689, 95% CI 1.363-16.135) were independent risk factors for AV. On the contrary, consistent condom use (OR 0.546, 95% CI 0.301-0.991) and college-level education or above (OR 0.255, 95% CI 0.131-0.497) were independent protective factors. Measures that may be considered to prevent AV include enhancing education to improve women's knowledge related to reproductive health, especially unmarried women, encouraging them to consistently use condoms as a contraceptive method, to avoid long-term use of antibiotics and to stop frequent vaginal douching. © 2015 S. Karger AG, Basel.

  6. The effect of marital status on pregnancy outcome in Israel: a retrospective case-control study.

    Science.gov (United States)

    Lurie, Samuel; Zalmanovitch, Anath; Golan, Abraham; Sadan, Oscar

    2010-12-01

    Previous studies have observed an association between unmarried status of the mother and adverse perinatal outcome such as increased rate of preterm deliveries, low birthweight and small-for-gestational-age infants. In Israel, attendance of prenatal care is imposed by the state and is not related to socioeconomic status; therefore, unmarried women are expected to have a similar prenatal care as married women. The objective of this study is to test the hypothesis that unmarried and married pregnant women have a similar perinatal outcome. In a retrospective case-control study, analysis of the records of women who gave birth at the delivery ward of Edith Wolfson Medical Center (a tertiary health care center) over a one-year period (2005) with respect to marital status was performed. The cases group included 304 unmarried women who were matched with 1:1 ratio for maternal age, parity, and number of fetuses in the current pregnancy. Unmarried women (n = 304) were more likely to smoke during pregnancy (35.2% vs 15.2%, P vs 54.4 ± 4.4 min, P vs 421.0 ± 25.3 min P unmarried women had similar length of gestation, preterm delivery rate, mode of delivery, low birthweight rates, low Apgar scores or meconium passage during labor as married women. In Israel, unmarried and married pregnant women may have almost similar pregnancy outcomes on length of gestation, mode of delivery and Apgar score. © 2010 The Authors. Journal of Obstetrics and Gynaecology Research © 2010 Japan Society of Obstetrics and Gynecology.

  7. Perinatal mortality and associated risk factors: a case control study ...

    African Journals Online (AJOL)

    BACKGROUND: Perinatal mortality is reported to be five times higher in developing than in developed nations. Little is known about the commonly associated risk factors for perinatal mortality in Southern Nations National Regional State of Ethiopia. METHODS: A case control study for perinatal mortality was conducted in ...

  8. Drug and alcohol crash risk : a case-control study.

    Science.gov (United States)

    2016-12-01

    This study used a case-control design to estimate the risk of crashes involving drivers using drugs, alcohol or both. Data was collected in Virginia Beach, Virginia, for 20 months. The study obtained biological measures on more than 3,000 crash...

  9. Case-Control Studies - An Efficient Observational Study Design

    NARCIS (Netherlands)

    van Stralen, Karlijn J.; Dekker, Friedo W.; Zoccali, Carmine; Jager, Kitty J.

    2010-01-01

    Case-control studies are an efficient research method for investigating risk factors of a disease. The method involves the comparison of the odds of exposure in a patient group with that of the odds of exposure in a control group. As only a minority of the population is included in the study, less

  10. Aetiology of handball injuries : a case-control study

    NARCIS (Netherlands)

    Dirx, M.; Bouter, L. M.; de Geus, G. H.

    This article presents the results of a case-control study regarding the background to handball injuries among players of 12 years and older. Data were collected by means of a written questionnaire on the nature, location and direct causes of the injuries as well as information on risk factors.

  11. Assessment of Health Belief Model (HBM impact on knowledge, beliefs, and self-efficacy of women in need of genetic counseling

    Directory of Open Access Journals (Sweden)

    Mitra Moodi

    2016-09-01

    Full Text Available Background and Aim: Regarding the ever-increasing of genetic diseases, counseling for the prevention of these diseases has got overwhelming necessity. Thus, promoting individuals’ awareness of. genetic counseling is required. The current study aimed at determining  the effect of an educational program based on Health Belief Model on knowledge, beliefs, and self-efficacy of urbanized women in need of genetic counseling. Materials and Methods: In this randomized field trial study, 80 married women in need of genetic counseling were divided into two equal case and control groups. Data collection means were a researcher-designed questionnaire consisting of demographic data and health belief model queries, which were completed by interview. Educational intervention was done during three 90 minute sessions with one week interval between each one. Finally, the obtained data was fed into SPSS (version 16 applying the statistical tests of Chi-square, repeated ANOVA, independent t-test, Mann-Whitney and Friedman for analysis; and P0.05, but the difference became significant immediately and three months after intervention (P<0.001. There was a significant difference between the knowledge, threat, perceived benefits, barriers and self-efficacy in the two groups three week intervals before and  immediately after intervention, before and after the three months, immediately and after three months in the experimental group (P<0.001, but the difference was not significant in the control group. Conclusion: The results showed that educational interventions based on HBM increases women's knowledge, beliefs, and self-efficacy regarding the role of genetic counseling in the prevention of congenital malformations.

  12. Intrahousehold resource allocation and child growth in Mozambique: an ethnographic case-control study.

    Science.gov (United States)

    Pfeiffer, J; Gloyd, S; Ramirez Li, L

    2001-07-01

    This study examines the effect of intrahousehold cash income control and decision-making patterns on child growth in the rural town of Sussundenga in Manica Province, Mozambique. A case-control study design was used to examine the influence of men's and women's disaggregated cash incomes on child growth. The research tested whether greater maternal share of household cash income was associated with (1) increased maternal decision-making and bargaining power in the household, and (2) better child growth. Fifty case households, with children 1-4 years old exhibiting poor growth, were matched with 50 control households of similar socioeconomic status in which all children under five demonstrated healthy growth. Data were gathered on gender-specific income generation and expenditure, specific intrahousehold allocation processes, diet, and sociodemographic variables using a formal survey. Key informant interviews, focus groups, and observation over one year provided ethnographic context for the case-control findings. Case-control differences were analyzed using McNemar's test, paired t-test, and conditional logistic regression. In spite of matching households for socioeconomic status, control household incomes were still slightly greater than cases. Male spouse income was also higher among controls while maternal income, and maternal proportion of household income, were not significantly different. Household meat, fish and poultry consumption, and maternal education were significantly greater among control households than cases. Greater maternal share of household income was not associated with greater maternal decision-making around cash. However, mothers must spend what little cash they earn on daily food supplies and usually request additional cash from spouses to cover these costs. There is evidence that if mothers earn enough to cover these socially prescribed costs, they can spend cash for other needs. Above this threshold, women's earnings may confer more

  13. Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial.

    Science.gov (United States)

    Pasick, Rena J; Joseph, Galen; Stewart, Susan; Kaplan, Celia; Lee, Robin; Luce, Judith; Davis, Sharon; Marquez, Titas; Nguyen, Tung; Guerra, Claudia

    2016-10-01

    To determine the effectiveness of a statewide telephone service in identifying low-income women at risk for hereditary breast and ovarian cancer and referring them to free genetic counseling. From June 2010 through August 2011, eligible callers to California's toll-free breast and cervical cancer telephone service were screened for their family histories of breast and ovarian cancer. High-risk women were identified and called for a baseline survey and randomization to an immediate offer of genetic counseling or a mailed brochure on how to obtain counseling. Clinic records were used to assess receipt of genetic counseling after 2 months. Among 1212 eligible callers, 709 (58.5%) agreed to answer family history questions; 102 (14%) were at high risk (25% Hispanic, 46% White, 10% Black, 16% Asian, 3% of other racial/ethnic backgrounds). Of the high-risk women offered an immediate appointment, 39% received counseling during the intervention period, as compared with 4.5% of those receiving the brochure. A public health approach to the rare but serious risk of hereditary breast and ovarian cancer can be successful when integrated into the efforts of existing safety net organizations.

  14. Anorexia nervosa versus bulimia nervosa: differences based on retrospective correlates in a case-control study.

    Science.gov (United States)

    Machado, Bárbara C; Gonçalves, Sónia F; Martins, Carla; Brandão, Isabel; Roma-Torres, António; Hoek, Hans W; Machado, Paulo P

    2016-06-01

    This study is the result of two Portuguese case-control studies that examined the replication of retrospective correlates and preceding life events in anorexia nervosa (AN) and bulimia nervosa (BN) development. This study aims to identify retrospective correlates that distinguish AN and BN METHOD: A case-control design was used to compare a group of women who met Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for AN (N = 98) and BN (N = 79) with healthy controls (N = 86) and with other psychiatric disorders (N = 68). Each control group was matched with AN patients regarding age and parental social categories. Risk factors were assessed by interviewing each person with the Oxford Risk Factor Interview. Compared to AN, women with BN reported significantly higher rates of paternal high expectations, excessive family importance placed on fitness/keeping in shape, and negative consequences due to adolescent overweight and adolescent objective overweight. Overweight during adolescence emerged as the most relevant retrospective correlate in the distinction between BN and AN participants. Family expectations and the importance placed on keeping in shape were also significant retrospective correlates in the BN group.

  15. Genetic variation in CYP19A1 and risk of breast cancer and fibrocystic breast conditions among women in Shanghai, China.

    Science.gov (United States)

    Chen, Chu; Sakoda, Lori C; Doherty, Jennifer A; Loomis, Melissa M; Fish, Sherianne; Ray, Roberta M; Lin, Ming Gang; Fan, Wenhong; Zhao, Lue Ping; Gao, Dao Li; Stalsberg, Helge; Feng, Ziding; Thomas, David B

    2008-12-01

    CYP19A1 encodes for aromatase, which irreversibly converts androgens to estrogens; variation in this gene may affect individual susceptibility to breast cancer and other sex hormone-dependent outcomes. In a case-control study nested within a breast self-examination trial conducted in China, we examined whether CYP19A1 polymorphisms (rs1870049, rs1004982, rs28566535, rs936306, rs11636639, rs767199, rs4775936, rs11575899, rs10046, and rs4646) were associated with risk of breast cancer and fibrocystic breast conditions. Cases were diagnosed with breast cancer (n = 614) or fibrocystic breast conditions (n = 465) during 1989 to 2000. Controls were free of breast disease during the same period (n = 879). Presence of proliferative changes within the extratumoral tissue of women with breast cancer and the lesions of women with fibrocystic conditions only was assessed. None of the polymorphisms were associated with overall risk of breast cancer or fibrocystic breast conditions. Differences in breast cancer risk, however, were observed by proliferation status. The risk of breast cancer with (but not without) proliferative fibrocystic conditions was increased among women homozygous for the minor allele of rs1004982 (C), rs28566535 (C), rs936306 (T), and rs4775936 (C) relative to those homozygous for the major allele [age-adjusted odds ratios (95% confidence intervals), 2.19 (1.24-3.85), 2.20 (1.27-3.82), 1.94 (1.13-3.30), and 1.95 (1.07-3.58), respectively]. Also, haplotypes inferred using all polymorphisms were not associated with overall risk of either outcome, although some block-specific haplotypes were associated with an increased risk of breast cancer with concurrent proliferative fibrocystic conditions. Our findings suggest that CYP19A1 variation may enhance breast cancer development in some women, but further confirmation is warranted.

  16. The relationship between thrombophilic mutations and preeclampsia: a prospective case-control study

    International Nuclear Information System (INIS)

    Yalinkaya, A.; Erdemoglu, M.; Akdeniz, N.; Kale, A.; Kale, E.

    2006-01-01

    Preeclampsia and its association with thrombophillia remain controversial, due to inconsistent results in different studies, which different ethnic groups, selection criteria, and patient numbers. The aim of this study was to determine the relationship between thrombophillia and preeclamptic patients in our region. In a prospective case-control study, we compared 100 consecutive women with preeclampsia and eclampsia (group 1) with 100 normal pregnant women (group 2). All women were tested two months after delivery for mutations of factor V Leiden, methylenetetrahydrofolate reductase (MTHFR), and prothrombin gene mutation mutataion as well as for deficiencies of protein C, protein S, and antithrmbin III. A thrombophilic mutation was found in 42 (42%) and 28(28%) women in group I and group II, respectively (P+0.27, OR 1.5, 95% CI 1.0-2.2). The incidence of Factor V Leiden mutation (heterozygous), prothrombin mutation (heterozygous), prothrombin mutation (homozygous), MTHFR mutation (homozygous) was not statistically significant in group 1 compared with group 2 (P>0.05). Also, deficiencies of protein S, protein c and antithrombin III were not statistically significant in group I com pared with group II (P>0.05). There was no difference in thrombophilic mutations between preeclamptic patients and normal pregnant women in our region. Therefore, we suggest that preeclamptic patients should not be tested for thrombophilia. (author)

  17. Breast cancer screening effect across breast density strata: A case-control study.

    Science.gov (United States)

    van der Waal, Daniëlle; Ripping, Theodora M; Verbeek, André L M; Broeders, Mireille J M

    2017-01-01

    Breast cancer screening is known to reduce breast cancer mortality. A high breast density may affect this reduction. We assessed the effect of screening on breast cancer mortality in women with dense and fatty breasts separately. Analyses were performed within the Nijmegen (Dutch) screening programme (1975-2008), which invites women (aged 50-74 years) biennially. Performance measures were determined. Furthermore, a case-control study was performed for women having dense and women having fatty breasts. Breast density was assessed visually with a dichotomized Wolfe scale. Breast density data were available for cases. The prevalence of dense breasts among controls was estimated with age-specific rates from the general population. Sensitivity analyses were performed on these estimates. Screening performance was better in the fatty than in the dense group (sensitivity 75.7% vs 57.8%). The mortality reduction appeared to be smaller for women with dense breasts, with an odds ratio (OR) of 0.87 (95% CI 0.52-1.45) in the dense and 0.59 (95% CI 0.44-0.79) in the fatty group. We can conclude that high density results in lower screening performance and appears to be associated with a smaller mortality reduction. Breast density is thus a likely candidate for risk-stratified screening. More research is needed on the association between density and screening harms. © 2016 UICC.

  18. Exposure to low-dose radiation and the risk of breast cancer among women with a familial or genetic predisposition: a meta-analysis

    International Nuclear Information System (INIS)

    Jansen-van der Weide, Marijke C.; Greuter, Marcel J.W.; Pijnappel, Ruud M.; Jansen, Liesbeth; Oosterwijk, Jan C.; Bock, Geertruida H. de

    2010-01-01

    Women with familial or genetic aggregation of breast cancer are offered screening outside the population screening programme. However, the possible benefit of mammography screening could be reduced due to the risk of radiation-induced tumours. A systematic search was conducted addressing the question of how low-dose radiation exposure affects breast cancer risk among high-risk women. A systematic search was conducted for articles addressing breast cancer, mammography screening, radiation and high-risk women. Effects of low-dose radiation on breast cancer risk were presented in terms of pooled odds ratios (OR). Of 127 articles found, 7 were selected for the meta-analysis. Pooled OR revealed an increased risk of breast cancer among high-risk women due to low-dose radiation exposure (OR = 1.3, 95% CI: 0.9- 1.8). Exposure before age 20 (OR = 2.0, 95% CI: 1.3-3.1) or a mean of ≥5 exposures (OR = 1.8, 95% CI: 1.1-3.0) was significantly associated with a higher radiation-induced breast cancer risk. Low-dose radiation increases breast cancer risk among high-risk women. When using low-dose radiation among high-risk women, a careful approach is needed, by means of reducing repeated exposure, avoidance of exposure at a younger age and using non-ionising screening techniques. (orig.)

  19. Lifestyle factors and breast cancer: a case-control study in Kuala Lumpur, Malaysia.

    Science.gov (United States)

    Kamarudin, Rozanim; Shah, Shamsul Azhar; Hidayah, Noor

    2006-01-01

    Breast cancer is the most common female cancer and the commonest cause of death due to cancer for women in Malaysia. This study was performed to identify the relationship with lifestyle factors. A case-control study was conducted among females with breast cancer who came for treatment to the Breast Clinic Hospital Kuala Lumpur in July until September 2004. A total of 203 female patients were recruited as cases along with 203 patients who attended the Outpatient Clinic, Hospital Kuala Lumpur during the study period as the controls. The study showed women who did not exercise regularly to have four times higher risk (adjusted odds ratio is 3.49, 95% CI is 1.84 to 6.62) compared to those who exercised regularly. Women with a high fat diet were also at elevated risk (adjusted odds ratio 3.84, 95% CI is 1.20 to 12.34) compared to those consuming a low fat diet. Women without breast cancer generally had a longer duration of lifetime lactation with a median of thirty-three months compared to women with breast cancer (twenty months, p<0.05). Women who did not take oral contraceptive pills but had breast-fed their child have a 56.0% lower risk (crude odds ratio 0.44, CI is 0.22 to 0.87) compared to women who did not take oral contraceptive pill and also did not breast-feed their child. If they had breast fed for thirteen months and above, they faced a 61.0% lower risk (crude odds ratio 0.39, 95% CI is 0.17 to 0.87). There was a significant inverse trend for lifetime lactation and breast cancer risk. In conclusion certain life styles of women are associated with a higher risk of breast cancer development. Therefore, the promotion of a healthy life style should be emphasized.

  20. An Analysis of the Influence of Selected Genetic and Hormonal Factors on the Occurrence of Depressive Symptoms in Late-Reproductive-Age Women

    Directory of Open Access Journals (Sweden)

    Anna Jurczak

    2015-03-01

    Full Text Available Background: The aim of this study was to analyze the influence of genetic and hormonal factors on incidences of depressive symptoms in late-reproductive-age women. Methods: The study was performed using the Beck Depression Inventory, the PCR, and genetic tests of 347 healthy late-reproductive-age Polish women. Results: The relationship between the level of anti-Müllerian hormone (AMH and depressive symptoms was not statistically significant (p > 0.05. Increases in age and FSH levels were accompanied by a decrease in AMH level in a significant way (p < 0.05. There were no statistically significant relationships between the distribution of genotypes and the frequency of alleles of the investigated polymorphisms and depressive symptoms according to the Beck Depression Inventory. Conclusions: (1 The presence of the s/s genotype of the 5-HTTLPR polymorphism in the serotonin transporter promoter region and the 3/3 genotype of the 30-bp VNTR polymorphism in the monoamine oxidase A promoter region does not contribute to the development of depressive symptoms in late-reproductive-age women. (2 A relationship between the level of anti-Müllerian hormone and depressive symptoms was not confirmed in the group of healthy late-reproductive-age women. (3 AMH level correlates negatively with FSH level and age, which confirms that AMH can be regarded as a factor reflecting the ovarian reserve.

  1. Genetic variations in vitamin D-related pathways and breast cancer risk in African American women in the AMBER consortium

    Science.gov (United States)

    Yao, Song; Haddad, Stephen A.; Hu, Qiang; Liu, Song; Lunetta, Kathryn L.; Ruiz-Narvaez, Edward A.; Hong, Chi-Chen; Zhu, Qianqian; Sucheston-Campbell, Lara; Cheng, Ting-Yuan David; Bensen, Jeannette T.; Johnson, Candace S.; Trump, Donald L.; Haiman, Christopher A.; Olshan, Andrew F.; Palmer, Julie R.; Ambrosone, Christine B.

    2016-01-01

    Studies of genetic variations in vitamin D-related pathways and breast cancer risk have been conducted mostly in populations of European ancestry, and only sparsely in African Americans (AA), who are known for a high prevalence of vitamin D deficiency. We analyzed 24,445 germline variants in 63 genes from vitamin D-related pathways in the African American Breast Cancer Epidemiology and Risk (AMBER) consortium, including 3,663 breast cancer cases and 4,687 controls. Odds ratios (OR) were derived from logistic regression models for overall breast cancer, by estrogen receptor (ER) status (1,983 ER positive and 1,098 ER negative), and for case-only analyses of ER status. None of the three vitamin D-related pathways were associated with breast cancer risk overall or by ER status. Gene-level analyses identified associations with risk for several genes at a nominal p ≤ 0.05, particularly for ER− breast cancer, including rs4647707 in DDB2. In case-only analyses, vitamin D metabolism and signaling pathways were associated with ER− cancer (pathway-level p = 0.02), driven by a single gene CASR (gene-level p = 0.001). The top SNP in CASR was rs112594756 (p = 7 × 10−5, gene-wide corrected p = 0.01), followed by a second signal from a nearby SNP rs6799828 (p = 1 × 10−4, corrected p = 0.03). In summary, several variants in vitamin D pathways were associated with breast cancer risk in AA women. In addition, CASR may be related to tumor ER status, supporting a role of vitamin D or calcium in modifying breast cancer phenotypes. PMID:26650177

  2. Sugary food and beverage consumption and epithelial ovarian cancer risk: a population-based case?control study

    OpenAIRE

    King, Melony G; Olson, Sara H; Paddock, Lisa; Chandran, Urmila; Demissie, Kitaw; Lu, Shou-En; Parekh, Niyati; Rodriguez-Rodriguez, Lorna; Bandera, Elisa V

    2013-01-01

    Background Ovarian cancer is the deadliest gynecologic cancer in the US. The consumption of refined sugars has increased dramatically over the past few decades, accounting for almost 15% of total energy intake. Yet, there is limited evidence on how sugar consumption affects ovarian cancer risk. Methods We evaluated ovarian cancer risk in relation to sugary foods and beverages, and total and added sugar intakes in a population-based case?control study. Cases were women with newly diagnosed epi...

  3. Metabolic, hormonal characteristics and genetic variants of TCF7L2 associated with development of gestational diabetes mellitus in Mexican women.

    Science.gov (United States)

    Reyes-López, Ruth; Pérez-Luque, Elva; Malacara, Juan Manuel

    2014-11-01

    Variation in TCF7L2 gene is associated with type 2 diabetes and with gestational diabetes mellitus in several populations, but there are no data in Mexican women with gestational diabetes mellitus. In this study, we examined metabolic and hormonal measurements as well as TCF7L2 genetic variants. We selected 108 pregnant women with normal glucose tolerance and 90 with gestational diabetes mellitus according to 2010 American Diabetes Association criteria matched for gestational week. We collected data on blood pressure, body mass index (BMI) and concentrations of blood glucose, HbA1c , lipids profile, insulin and glucagon-like peptide-1 (GLP-1). The genotyping of rs7903146 and rs12255372 polymorphisms were made with polymerase chain reaction-restriction fragment length polymorphism. Actual and pre-gestational BMI, fasting glucose and HbA1c were higher (p gestational diabetes mellitus women than euglycemic women. No significant differences were found for lipids, insulin and homeostasis model assessment-insulin resistance. Gestational diabetes mellitus women had high GLP-1 levels (32 vs 24, p gestational diabetes women was significantly higher than that in euglycemic women (χ²  = 8.96; p gestational diabetes mellitus (OR = 9.1, 95% CI 2.8-29, p gestational BMI and rs12255372 risk allele are independently associated with gestational diabetes. The elevated GLP-1 levels in gestational diabetes women suggested some abnormality in insulin secretion. The low β-cell function, high pre-gestational BMI and rs12255372 risk allele are risk factors independently associated with the development of gestational diabetes. Copyright © 2014 John Wiley & Sons, Ltd.

  4. Struggling doctors in specialist training: a case control study

    DEFF Research Database (Denmark)

    O'Neill, Lotte; Norberg, Karen; Thomsen, Maria

    ), or transferred (i.e. had unplanned changes in place of training/ward due to failure to thrive or due to inadequate development of competences), or dropped out (i.e. were dismissed from, had resigned from, or changed their speciality). Controls were a random sample of doctors in the source population, who were......Abstract summary The aim of this cummulative incidence case-control study was to examine: if struggling trainees in medical specialist training (cases) tended to struggle already in medical school or not compared to non-struggling controls, and which performance indicators during medical school...... seemed to predict struggling in postgraduate education if any. The study design is rooted in epidemiological methodology. Struggling doctors in specialist training: a case-control study. It has been reported in the international literature, that around 3-10% of doctors in post-garduate specialist...

  5. Sample size calculations for case-control studies

    Science.gov (United States)

    This R package can be used to calculate the required samples size for unconditional multivariate analyses of unmatched case-control studies. The sample sizes are for a scalar exposure effect, such as binary, ordinal or continuous exposures. The sample sizes can also be computed for scalar interaction effects. The analyses account for the effects of potential confounder variables that are also included in the multivariate logistic model.

  6. Nutritional risk assessment for Hip fracture, A Case control study

    OpenAIRE

    Torbergsen, Anne Cathrine

    2016-01-01

    The study was conducted at Oslo University Hospital, Norway. Patients were included from September 2009 until April 2011. In total 116 patients and 73 healthy non-fractured controls participated. The study has 3 parts. In the first part, we studied micronutrients and the risk of hip fracture in a case control study. In the second part, we conducted a randomized controlled nutrition intervention trial and finally, in the third part, we studied if micronutrients were associated with delirium in...

  7. Methodology Series Module 2: Case-control Studies.

    Science.gov (United States)

    Setia, Maninder Singh

    2016-01-01

    Case-Control study design is a type of observational study. In this design, participants are selected for the study based on their outcome status. Thus, some participants have the outcome of interest (referred to as cases), whereas others do not have the outcome of interest (referred to as controls). The investigator then assesses the exposure in both these groups. The investigator should define the cases as specifically as possible. Sometimes, definition of a disease may be based on multiple criteria; thus, all these points should be explicitly stated in case definition. An important aspect of selecting a control is that they should be from the same 'study base' as that of the cases. We can select controls from a variety of groups. Some of them are: General population; relatives or friends; and hospital patients. Matching is often used in case-control control studies to ensure that the cases and controls are similar in certain characteristics, and it is a useful technique to increase the efficiency of the study. Case-Control studies can usually be conducted relatively faster and are inexpensive - particularly when compared with cohort studies (prospective). It is useful to study rare outcomes and outcomes with long latent periods. This design is not very useful to study rare exposures. Furthermore, they may also be prone to certain biases - selection bias and recall bias.

  8. Assessment of global phase uncertainty in case-control studies

    Directory of Open Access Journals (Sweden)

    van Houwelingen Hans C

    2009-09-01

    Full Text Available Abstract Background In haplotype-based candidate gene studies a problem is that the genotype data are unphased, which results in haplotype ambiguity. The measure 1 quantifies haplotype predictability from genotype data. It is computed for each individual haplotype, and for a measure of global relative efficiency a minimum value is suggested. Alternatively, we developed methods directly based on the information content of haplotype frequency estimates to obtain global relative efficiency measures: and based on A- and D-optimality, respectively. All three methods are designed for single populations; they can be applied in cases only, controls only or the whole data. Therefore they are not necessarily optimal for haplotype testing in case-control studies. Results A new global relative efficiency measure was derived to maximize power of a simple test statistic that compares haplotype frequencies in cases and controls. Application to real data showed that our proposed method gave a clear and summarizing measure for the case-control study conducted. Additionally this measure might be used for selection of individuals, who have the highest potential for improving power by resolving phase ambiguity. Conclusion Instead of using relative efficiency measure for cases only, controls only or their combined data, we link uncertainty measure to case-control studies directly. Hence, our global efficiency measure might be useful to assess whether data are informative or have enough power for estimation of a specific haplotype risk.

  9. Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve.

    Science.gov (United States)

    Cizmeli, Ceylan; Lobel, Marci; Franasiak, Jason; Pastore, Lisa M

    2013-06-01

    To measure the level of distress and its relationship with other psychologic factors in women with diminished ovarian reserve (DOR) who participated in a fragile X genetics study. Longitudinal data analyzed with structural equation modeling. Four U.S. private and academic fertility centers. Sixty-two infertile patients with DOR. None. Fertility Problem Inventory, Coping Scale for Infertile Couples, Rosenberg Self-Esteem, Health Orientation Scale. Nineteen percent had low fertility distress, 56% had average fertility distress, and 24% had high fertility distress. Thirty-six percent self-reported a "favorable" or "very favorable" emotional response to potentially being a fragile X carrier (termed "emotions"), 53% were "ambivalent," and 11% had an unfavorable reaction. Three months after learning that they were not a carrier, these percentages were 91%, 9%, and 0%, respectively. Emotions at this second time point were significantly more positive than at pretesting. At baseline, higher self-esteem was a significant predictor of reduced fertility distress both directly and indirectly through emotions. Fertility distress was not associated with coping. Self-esteem, fertility distress, pretesting emotions, and coping were unrelated to posttesting emotions. The potential of having an explanation for one's DOR condition may have a beneficial impact on women's psychologic states during the process of genetic testing, and this appeared to be especially true for women with higher self-esteem. Psychologic interventions targeted to women with low self-esteem may reduce distress and improve reactions to genetic testing. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  10. Beliefs and perceptions about the causes of breast cancer: a case-control study.

    Science.gov (United States)

    Thomson, Allyson K; Heyworth, Jane S; Girschik, Jennifer; Slevin, Terry; Saunders, Christobel; Fritschi, Lin

    2014-08-21

    Attributions of causality are common for many diseases, including breast cancer. The risk of developing breast cancer can be reduced by modifications to lifestyle and behaviours to minimise exposure to specific risk factors, such as obesity. However, these modifications will only occur if women believe that certain behaviours/lifestyle factors have an impact on the development of breast cancer. The Breast Cancer, Environment and Employment Study is a case-control study of breast cancer conducted in Western Australia between 2009 and 2011. As part of the study 1109 women with breast cancer and 1633 women without the disease completed a Risk Perception Questionnaire in which they were asked in an open-ended question for specific cause/s to the development of breast cancer in themselves or in others. The study identified specific causal beliefs, and assessed differences in the beliefs between women with and without breast cancer. The most common attributions in women without breast cancer were to familial or inherited factors (77.6%), followed by lifestyle factors, such as poor diet and smoking (47.1%), and environmental factors, such as food additives (45.4%). The most common attributions in women with breast cancer were to mental or emotional factors (46.3%), especially stress, followed by lifestyle factors (38.6%) and physiological factors (37.5%), particularly relating to hormonal history. While the majority of participants in this study provided one or more causal attributions for breast cancer, many of the reported risk factors do not correspond to those generally accepted by the scientific community. These misperceptions could be having a significant impact on the success of prevention and early detection programs that seek to minimise the pain and suffering caused by this disease. In particular, women who have no family history of the disease may not work to minimise their exposure to the modifiable risk factors.

  11. Pregnancy outcome in hyperthyroidism: a case control study.

    Science.gov (United States)

    Aggarawal, Neelam; Suri, Vanita; Singla, Rimpi; Chopra, Seema; Sikka, Pooja; Shah, Viral N; Bhansali, Anil

    2014-01-01

    Data comparing pregnancy outcome in hyperthyroid women with euthyroid women are scarce. Hence, this study was carried out to assess the maternal and fetal outcome in pregnant women with hyperthyroidism to ascertain the effect of disease on pregnancy. This retrospective study was conducted over a period of 28 years. We compared the maternal and fetal outcomes of 208 hyperthyroid women with 403 healthy controls, between women with well-controlled and uncontrolled disease and amongst women diagnosed with hyperthyroidism before and during pregnancy. Maternal outcome: women with hyperthyroidism were at increased risk for preeclampsia (OR = 3.94), intrauterine growth restriction (OR = 2.16), spontaneous preterm labor (OR = 1.73), preterm birth (OR = 1.7), gestational diabetes mellitus (OR = 1.8), and cesarean delivery (OR = 1.47). Hyperthyroid women required induction of labor more frequently (OR = 3.61). Fetal outcome: newborns of hyperthyroid mothers had lower birth weight than normal ones (p = 0.0001). Women with uncontrolled disease had higher odds for still birth (OR = 8.42; 95% CI: 2.01-35.2) and lower birth weight (p = 0.0001). Obstetrical complications were higher in women with hyperthyroidism than normal women. Outcome was worsened by uncontrolled disease. Women with pregestational hyperthyroidism had better outcomes than those diagnosed with it during pregnancy. © 2014 S. Karger AG, Basel.

  12. Influence of Diet, Menstruation and Genetic Factors on Iron Status: A Cross-Sectional Study in Spanish Women of Childbearing Age

    Directory of Open Access Journals (Sweden)

    Ruth Blanco-Rojo

    2014-03-01

    Full Text Available The aim of this study was to investigate the combined influence of diet, menstruation and genetic factors on iron status in Spanish menstruating women (n = 142. Dietary intake was assessed by a 72-h detailed dietary report and menstrual blood loss by a questionnaire, to determine a Menstrual Blood Loss Coefficient (MBLC. Five selected SNPs were genotyped: rs3811647, rs1799852 (Tf gene; rs1375515 (CACNA2D3 gene; and rs1800562 and rs1799945 (HFE gene, mutations C282Y and H63D, respectively. Iron biomarkers were determined and cluster analysis was performed. Differences among clusters in dietary intake, menstrual blood loss parameters and genotype frequencies distribution were studied. A categorical regression was performed to identify factors associated with cluster belonging. Three clusters were identified: women with poor iron status close to developing iron deficiency anemia (Cluster 1, n = 26; women with mild iron deficiency (Cluster 2, n = 59 and women with normal iron status (Cluster 3, n = 57. Three independent factors, red meat consumption, MBLC and mutation C282Y, were included in the model that better explained cluster belonging (R2 = 0.142, p < 0.001. In conclusion, the combination of high red meat consumption, low menstrual blood loss and the HFE C282Y mutation may protect from iron deficiency in women of childbearing age. These findings could be useful to implement adequate strategies to prevent iron deficiency anemia.

  13. Influence of diet, menstruation and genetic factors on iron status: a cross-sectional study in Spanish women of childbearing age.

    Science.gov (United States)

    Blanco-Rojo, Ruth; Toxqui, Laura; López-Parra, Ana M; Baeza-Richer, Carlos; Pérez-Granados, Ana M; Arroyo-Pardo, Eduardo; Vaquero, M Pilar

    2014-03-06

    The aim of this study was to investigate the combined influence of diet, menstruation and genetic factors on iron status in Spanish menstruating women (n = 142). Dietary intake was assessed by a 72-h detailed dietary report and menstrual blood loss by a questionnaire, to determine a Menstrual Blood Loss Coefficient (MBLC). Five selected SNPs were genotyped: rs3811647, rs1799852 (Tf gene); rs1375515 (CACNA2D3 gene); and rs1800562 and rs1799945 (HFE gene, mutations C282Y and H63D, respectively). Iron biomarkers were determined and cluster analysis was performed. Differences among clusters in dietary intake, menstrual blood loss parameters and genotype frequencies distribution were studied. A categorical regression was performed to identify factors associated with cluster belonging. Three clusters were identified: women with poor iron status close to developing iron deficiency anemia (Cluster 1, n = 26); women with mild iron deficiency (Cluster 2, n = 59) and women with normal iron status (Cluster 3, n = 57). Three independent factors, red meat consumption, MBLC and mutation C282Y, were included in the model that better explained cluster belonging (R2 = 0.142, p < 0.001). In conclusion, the combination of high red meat consumption, low menstrual blood loss and the HFE C282Y mutation may protect from iron deficiency in women of childbearing age. These findings could be useful to implement adequate strategies to prevent iron deficiency anemia.

  14. Intra- versus retroplacental hematomas: a retrospective case-control study on pregnancy outcomes.

    Science.gov (United States)

    Ott, Johannes; Pecnik, Philipp; Promberger, Regina; Pils, Sophie; Binder, Julia; Chalubinski, Kinga M

    2017-10-26

    Intrauterine hematomas are a common pregnancy complication. The literature lacks studies about outcomes based on hematoma localization. Thus, we aimed to compare pregnancies complicated by an intraplacental hematoma to cases with a retroplacental hematoma and to a control group. In a retrospective case-control study, 32 women with an intraplacental hematoma, 199 women with a retroplacental hematoma, and a control group consisting of 113 age-matched women with no signs of placental abnormalities were included. Main outcome measures were pregnancy complications. Second-trimester miscarriage was most common in the intraplacental hematoma group (9.4%), followed by women with a retroplacental hematoma (4.2%), and controls (0%; p = 0.007). The intraplacental hematoma group revealed the highest rates for placental insufficiency, intrauterine growth retardation, premature preterm rupture of membranes, preterm labor, preterm delivery hematoma group. When tested in multivariate models, intraplacental hematomas were independent predictors for placental insufficiency (ß = 4.19, p hematoma (p = 0.042). Intra- and retroplacental hematomas have different risk profiles for the affected pregnancy and act as independent risk factors.

  15. A case control study of risk factors associated with female breast cancer

    International Nuclear Information System (INIS)

    Nazir, N.; Waheed, A.; Farhat, K.; Ismail, M.

    2015-01-01

    To find the association of various risk factors with breast cancer. Study Design: It was a case-control study. Place and Duration of Study: The study was carried out in NORI Hospital Islamabad and Combined Military Hospital Rawalpindi between August, 2013 and February, 2014. Material and Methods: Two hundred breast cancer patients and 200 control subjects were inducted. A short approved and planned questionnaire was used to collect data regarding basic demographic, menstrual and reproductive characteristics of participating females. Cases and controls were then interviewed after taking written consent. Results: Breast cancer patients and control subjects did not differ regarding age (p = 0.15), early menarche (OR for menarche at <13 years vs. ?13=1.3, 95% CI = 0.84 - 2.02), and history of breast cancer in 1st degree relatives did not increase breast cancer risk (OR = 1.0, 95% CI = 0.57 - 1.74). Nulliparous women had significantly higher risk than parous women (OR = 2.43, 95% CI = 1.22 - 4.84) and women with late menopause compared to women with early onset of menopause were also at higher risk for breast cancer (OR for menopause at ? 50 vs. < 50 = 5.16, 95% CI = 2.59 - 10.29). Conclusion: Nulliparity and menopausal age of more than 50 years was associated with increased breast cancer risk. Breast feeding and age less than 25 years at first live birth was not protective against breast cancer. (author)

  16. Fragrance allergy and quality of life - a case-control study.

    Science.gov (United States)

    Heisterberg, Maria V; Menné, Torkil; Johansen, Jeanne D

    2014-02-01

    Fragrance ingredients can cause contact allergy, which may affect quality of life (QoL). However, few studies have investigated this topic. To investigate QoL life among subjects with a fragrance allergy as compared with other eczema patients. A case-control survey was sent to subjects with a positive patch test reaction to a fragrance ingredient/marker (n = 550) and to a control group (n = 1100). It contained questions on eczema and the newly developed fragrance QoL index. Participants had been consecutively patch tested at Gentofte University Hospital (2000-2010). The response rate was 65.7%. Information on patch test data was retrieved from the National Contact Dermatitis Database. An increase in impairment of QoL was observed in women with fragrance allergy as compared with the control group (p = 0.042), which was not found among men. Several factors played a significant role in impairment of QoL in women: (i) number of fragrance allergies, (ii) severity of the patch test reaction, (iii) age combined with recent diagnosis; and (iv) allergy to specific fragrance ingredients/markers. Fragrance-allergic subjects are just as affected in their QoL as other eczema patients. However, women, and in particular recently diagnosed young women, seem to be more impaired in their QoL than other eczema patients. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  17. Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

    Science.gov (United States)

    Beaumont, Robin N; Warrington, Nicole M; Cavadino, Alana; Tyrrell, Jessica; Nodzenski, Michael; Horikoshi, Momoko; Geller, Frank; Myhre, Ronny; Richmond, Rebecca C; Paternoster, Lavinia; Bradfield, Jonathan P; Kreiner-Møller, Eskil; Huikari, Ville; Metrustry, Sarah; Lunetta, Kathryn L; Painter, Jodie N; Hottenga, Jouke-Jan; Allard, Catherine; Barton, Sheila J; Espinosa, Ana; Marsh, Julie A; Potter, Catherine; Zhang, Ge; Ang, Wei; Berry, Diane J; Bouchard, Luigi; Das, Shikta; Hakonarson, Hakon; Heikkinen, Jani; Helgeland, Øyvind; Hocher, Berthold; Hofman, Albert; Inskip, Hazel M; Jones, Samuel E; Kogevinas, Manolis; Lind, Penelope A; Marullo, Letizia; Medland, Sarah E; Murray, Anna; Murray, Jeffrey C; Njølstad, Pål R; Nohr, Ellen A; Reichetzeder, Christoph; Ring, Susan M; Ruth, Katherine S; Santa-Marina, Loreto; Scholtens, Denise M; Sebert, Sylvain; Sengpiel, Verena; Tuke, Marcus A; Vaudel, Marc; Weedon, Michael N; Willemsen, Gonneke; Wood, Andrew R; Yaghootkar, Hanieh; Muglia, Louis J; Bartels, Meike; Relton, Caroline L; Pennell, Craig E; Chatzi, Leda; Estivill, Xavier; Holloway, John W; Boomsma, Dorret I; Montgomery, Grant W; Murabito, Joanne M; Spector, Tim D; Power, Christine; Järvelin, Marjo-Ritta; Bisgaard, Hans; Grant, Struan F A; Sørensen, Thorkild I A; Jaddoe, Vincent W; Jacobsson, Bo; Melbye, Mads; McCarthy, Mark I; Hattersley, Andrew T; Hayes, M Geoffrey; Frayling, Timothy M; Hivert, Marie-France; Felix, Janine F; Hyppönen, Elina; Lowe, William L; Evans, David M; Lawlor, Debbie A; Feenstra, Bjarke

    2018-01-01

    Abstract Genome-wide association studies of birth weight have focused on fetal genetics, whereas relatively little is known about the role of maternal genetic variation. We aimed to identify maternal genetic variants associated with birth weight that could highlight potentially relevant maternal determinants of fetal growth. We meta-analysed data on up to 8.7 million SNPs in up to 86 577 women of European descent from the Early Growth Genetics (EGG) Consortium and the UK Biobank. We used structural equation modelling (SEM) and analyses of mother–child pairs to quantify the separate maternal and fetal genetic effects. Maternal SNPs at 10 loci (MTNR1B, HMGA2, SH2B3, KCNAB1, L3MBTL3, GCK, EBF1, TCF7L2, ACTL9, CYP3A7) were associated with offspring birth weight at P < 5 × 10−8. In SEM analyses, at least 7 of the 10 associations were consistent with effects of the maternal genotype acting via the intrauterine environment, rather than via effects of shared alleles with the fetus. Variants, or correlated proxies, at many of the loci had been previously associated with adult traits, including fasting glucose (MTNR1B, GCK and TCF7L2) and sex hormone levels (CYP3A7), and one (EBF1) with gestational duration. The identified associations indicate that genetic effects on maternal glucose, cytochrome P450 activity and gestational duration, and potentially on maternal blood pressure and immune function, are relevant for fetal growth. Further characterization of these associations in mechanistic and causal analyses will enhance understanding of the potentially modifiable maternal determinants of fetal growth, with the goal of reducing the morbidity and mortality associated with low and high birth weights. PMID:29309628

  18. Genetic ancestry in relation to the metabolic response to a US versus traditional Mexican diet: a randomized crossover feeding trial among women of Mexican descent.

    Science.gov (United States)

    Santiago-Torres, M; De Dieu Tapsoba, J; Kratz, M; Lampe, J W; Breymeyer, K L; Levy, L; Song, X; Villaseñor, A; Wang, C-Y; Fejerman, L; Neuhouser, M L; Carlson, C S

    2017-03-01

    Certain populations with a large proportion of indigenous American (IA) genetic ancestry may be evolutionarily adapted to traditional diets high in legumes and complex carbohydrates, and may have a detrimental metabolic response to US diets high in refined carbohydrates and added sugars. We tested whether IA ancestry modified the metabolic response to a US versus traditional Mexican diet in a controlled dietary intervention. First and second generation Mexican immigrant women (n=53) completed a randomized crossover feeding trial testing the effects of a US versus traditional Mexican diet. The metabolic response to the diets was measured by fasting serum concentrations of glucose, insulin, insulin-like growth factor-1 (IGF-1), IGF-binding protein-3 (IGFBP-3), adiponectin, C-reactive protein, interleukin-6 and computed homeostasis model assessment for insulin resistance (HOMA IR ). Blood collected at baseline was used for genotyping, and estimation of African, European and IA ancestries with the use of 214 ancestry informative markers. The genetic ancestral background was 56% IA, 38% European and 6% African. Women in the highest IA ancestry tertile (>62%) were shorter in height, less educated and less acculturated to the US lifestyle, and tended to have higher waist-to-hip ratio compared with women in the middle and lowest IA ancestry tertiles, respectively. Compared with the US diet, the traditional Mexican diet tended to reduce glucose, insulin, IGF-1, IGFBP-3 and HOMA IR among women in the middle IA ancestry group (IA ancestry ⩽45-62%), whereas having no effect on biomarkers related to inflammation. We observed modest interactions between IA ancestry and the metabolic response to a US versus traditional Mexican diet among Mexican immigrant women.

  19. How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer

    Directory of Open Access Journals (Sweden)

    Watts Kaaren J

    2012-07-01

    Full Text Available Abstract Background Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘TFGT’ - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service. Design/methods In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a an educational pamphlet about genetic testing (intervention or (b a genetic counseling appointment at a family cancer center (standard care. Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome;uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision

  20. Shrinkage Estimators for Robust and Efficient Inference in Haplotype-Based Case-Control Studies

    KAUST Repository

    Chen, Yi-Hau

    2009-03-01

    Case-control association studies often aim to investigate the role of genes and gene-environment interactions in terms of the underlying haplotypes (i.e., the combinations of alleles at multiple genetic loci along chromosomal regions). The goal of this article is to develop robust but efficient approaches to the estimation of disease odds-ratio parameters associated with haplotypes and haplotype-environment interactions. We consider "shrinkage" estimation techniques that can adaptively relax the model assumptions of Hardy-Weinberg-Equilibrium and gene-environment independence required by recently proposed efficient "retrospective" methods. Our proposal involves first development of a novel retrospective approach to the analysis of case-control data, one that is robust to the nature of the gene-environment distribution in the underlying population. Next, it involves shrinkage of the robust retrospective estimator toward a more precise, but model-dependent, retrospective estimator using novel empirical Bayes and penalized regression techniques. Methods for variance estimation are proposed based on asymptotic theories. Simulations and two data examples illustrate both the robustness and efficiency of the proposed methods.

  1. Shrinkage Estimators for Robust and Efficient Inference in Haplotype-Based Case-Control Studies

    KAUST Repository

    Chen, Yi-Hau; Chatterjee, Nilanjan; Carroll, Raymond J.

    2009-01-01

    Case-control association studies often aim to investigate the role of genes and gene-environment interactions in terms of the underlying haplotypes (i.e., the combinations of alleles at multiple genetic loci along chromosomal regions). The goal of this article is to develop robust but efficient approaches to the estimation of disease odds-ratio parameters associated with haplotypes and haplotype-environment interactions. We consider "shrinkage" estimation techniques that can adaptively relax the model assumptions of Hardy-Weinberg-Equilibrium and gene-environment independence required by recently proposed efficient "retrospective" methods. Our proposal involves first development of a novel retrospective approach to the analysis of case-control data, one that is robust to the nature of the gene-environment distribution in the underlying population. Next, it involves shrinkage of the robust retrospective estimator toward a more precise, but model-dependent, retrospective estimator using novel empirical Bayes and penalized regression techniques. Methods for variance estimation are proposed based on asymptotic theories. Simulations and two data examples illustrate both the robustness and efficiency of the proposed methods.

  2. Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

    DEFF Research Database (Denmark)

    Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki

    2016-01-01

    PURPOSE: Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. METHODS: We constructed a genetic risk score (GRS) using risk variants from 33 known independent T2D suscept...

  3. Maternal complication prevention: evidence from a case-control study in southwest Nigeria

    Directory of Open Access Journals (Sweden)

    Kayode O. Osungbade

    2014-12-01

    Full Text Available Background: The importance of strengthening maternal health services as a preventive intervention for morbidities and complications during pregnancy and delivery in developing countries cannot be over-emphasised, since use of prenatal health services improves maternal health outcomes. Aim: This study investigated differences in risk factors for maternal complications in booked and unbooked pregnant women in Nigeria, and provided evidence for their prevention. Setting: The study was carried out in a postnatal ward in a secondary health facility. Methods: This was a case-control study involving booked and unbooked pregnant women who had delivered. Consecutive enrolment of all unbooked pregnant women (cases was done, and one booked pregnant woman (control was enrolled and matched for age with each of these. Both groups were interviewed using a questionnaire, whilst records of delivery were extracted from the hospital files. Findings were subjected to logistical regression at a significance level of p < 0.05. Results: Booked women had a lower median length of labour (10 hours compared to unbooked women (13 hours. More women in the booked control group (139; 35.1% than in the unbooked case group (96; 23.6% reported at least one type of morbidity during the index pregnancy (p = 0.0004. Booking status was associated with a likelihood of spontaneous vaginal delivery. Young maternal age, low education, rural residence and low socio-economic status were associated with less likelihood of using prenatal services. Young maternal age, low education and intervention in the delivery were associated with a likelihood of experiencing a complication of delivery. Conclusion: Strengthening antenatal and secondary healthcare services as short- and mediumterm measures might be cost-effective as a preventive strategy in complications of pregnancy,whilst socio-economic dimensions of health are accorded priority in the long term.

  4. Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas: a case control study

    Directory of Open Access Journals (Sweden)

    Wallin Håkan

    2006-07-01

    Full Text Available Abstract Background The risk of sporadic colorectal cancer is mainly associated with lifestyle factors and may be modulated by several genetic factors of low penetrance. Genetic variants represented by single nucleotide polymorphisms in genes encoding key players in the adenoma carcinoma sequence may contribute to variation in susceptibility to colorectal cancer. In this study, we aimed to evaluate whether the recently identified haplotype encompassing genes of DNA repair and apoptosis, is associated with increased risk of colorectal adenomas and carcinomas. Methods We used a case-control study design (156 carcinomas, 981 adenomas and 399 controls to test the association between polymorphisms in the chromosomal region 19q13.2-3, encompassing the genes ERCC1, ASE-1 and RAI, and risk of colorectal adenomas and carcinomas in a Norwegian cohort. Odds ratio (OR and 95% confidence interval (CI were estimated by binary logistic regression model adjusting for age and gender. Results The ASE-1 polymorphism was associated with an increased risk of adenomas, OR of 1.39 (95% CI 1.06–1.81, which upon stratification was apparent among women only, OR of 1.66 (95% CI 1.15–2.39. The RAI polymorphism showed a trend towards risk reduction for both adenomas (OR of 0.70, 95% CI 0.49–1.01 and carcinomas (OR of 0.49, 95% CI 0.21–1.13 among women, although not significant. Women who were homozygous carriers of the high risk haplotype had an increased risk of colorectal cancer, OR of 2.19 (95% CI 0.95–5.04 compared to all non-carriers although the estimate was not statistically significant. Conclusion We found no evidence that the studied polymorphisms were associated with risk of adenomas or colorectal cancer among men, but we found weak indications that the chromosomal region may influence risk of colorectal cancer and adenoma development in women.

  5. [A case-control study on the risk factors of esophageal cancer in Linzhou].

    Science.gov (United States)

    Lu, J; Lian, S; Sun, X; Zhang, Z; Dai, D; Li, B; Cheng, L; Wei, J; Duan, W

    2000-12-01

    To explore the characteristics of prevalence and influencing factors on the genesis of esophageal cancer. A population-based 1:1 matched case-control study was conducted in Linzhou. A total number of 352 pairs of cases and controls matched on sex, age and neighborhoods. Data was analysed by SAS software to calculate the odds ratio of and to evaluate the relative risks. It was found that lower socio-economic status, environmental pollution around the residential areas, lampblack in room, lower body mass index (BMI), more pickled food intake, cigarette smoking, alcoholic drinking, vigor mental-trauma and depression were risk factors of esophageal cancer. It also showed that the subjects having had history of upper digestive tract operation, dysplasia of esophagus and family history of carcinoma markedly increased the risks of developing esophageal cancer. Esophageal cancer seemed to be resulted from the combination of genetic and environmental factor, hence called for of medical surveillance and comprehensive prevention.

  6. Risk and protective factors for spasmodic dysphonia: a case-control investigation.

    Science.gov (United States)

    Tanner, Kristine; Roy, Nelson; Merrill, Ray M; Kimber, Kamille; Sauder, Cara; Houtz, Daniel R; Doman, Darrin; Smith, Marshall E

    2011-01-01

    Spasmodic dysphonia (SD) is a chronic, incurable, and often disabling voice disorder of unknown pathogenesis. The purpose of this study was to identify possible endogenous and exogenous risk and protective factors uniquely associated with SD. Prospective, exploratory, case-control investigation. One hundred fifty patients with SD and 150 medical controls (MCs) were interviewed regarding their personal and family histories, environmental exposures, illnesses, injuries, voice use patterns, and general health using a previously vetted and validated epidemiologic questionnaire. Odds ratios and multiple logistic regression analyses (α<0.15) identified several factors that significantly increased the likelihood of having SD. These factors included (1) a personal history of mumps, blepharospasm, tremor, intense occupational and avocational voice use, and a family history of voice disorders; (2) an immediate family history of meningitis, tremor, tics, cancer, and compulsive behaviors; and (3) an extended family history of tremor and cancer. SD is likely multifactorial in etiology, involving both genetic and environmental factors. Viral infections/exposures, along with intense voice use, may trigger the onset of SD in genetically predisposed individuals. Future studies should examine the interaction among genetic and environmental factors to determine the pathogenesis of SD. Copyright © 2011 The Voice Foundation. Published by Mosby, Inc. All rights reserved.

  7. A kernel regression approach to gene-gene interaction detection for case-control studies.

    Science.gov (United States)

    Larson, Nicholas B; Schaid, Daniel J

    2013-11-01

    Gene-gene interactions are increasingly being addressed as a potentially important contributor to the variability of complex traits. Consequently, attentions have moved beyond single locus analysis of association to more complex genetic models. Although several single-marker approaches toward interaction analysis have been developed, such methods suffer from very high testing dimensionality and do not take advantage of existing information, notably the definition of genes as functional units. Here, we propose a comprehensive family of gene-level score tests for identifying genetic elements of disease risk, in particular pairwise gene-gene interactions. Using kernel machine methods, we devise score-based variance component tests under a generalized linear mixed model framework. We conducted simulations based upon coalescent genetic models to evaluate the performance of our approach under a variety of disease models. These simulations indicate that our methods are generally higher powered than alternative gene-level approaches and at worst competitive with exhaustive SNP-level (where SNP is single-nucleotide polymorphism) analyses. Furthermore, we observe that simulated epistatic effects resulted in significant marginal testing results for the involved genes regardless of whether or not true main effects were present. We detail the benefits of our methods and discuss potential genome-wide analysis strategies for gene-gene interaction analysis in a case-control study design. © 2013 WILEY PERIODICALS, INC.

  8. Network-based regularization for high dimensional SNP data in the case-control study of Type 2 diabetes.

    Science.gov (United States)

    Ren, Jie; He, Tao; Li, Ye; Liu, Sai; Du, Yinhao; Jiang, Yu; Wu, Cen

    2017-05-16

    Over the past decades, the prevalence of type 2 diabetes mellitus (T2D) has been steadily increasing around the world. Despite large efforts devoted to better understand the genetic basis of the disease, the identified susceptibility loci can only account for a small portion of the T2D heritability. Some of the existing approaches proposed for the high dimensional genetic data from the T2D case-control study are limited by analyzing a few number of SNPs at a time from a large pool of SNPs, by ignoring the correlations among SNPs and by adopting inefficient selection techniques. We propose a network constrained regularization method to select important SNPs by taking the linkage disequilibrium into account. To accomodate the case control study, an iteratively reweighted least square algorithm has been developed within the coordinate descent framework where optimization of the regularized logistic loss function is performed with respect to one parameter at a time and iteratively cycle through all the parameters until convergence. In this article, a novel approach is developed to identify important SNPs more effectively through incorporating the interconnections among them in the regularized selection. A coordinate descent based iteratively reweighed least squares (IRLS) algorithm has been proposed. Both the simulation study and the analysis of the Nurses's Health Study, a case-control study of type 2 diabetes data with high dimensional SNP measurements, demonstrate the advantage of the network based approach over the competing alternatives.

  9. The Impact of Genetic Variants for Different Physiological Characterization of Type 2 Diabetes Loci on Gestational Insulin Signaling in Nondiabetic Pregnant Chinese Women.

    Science.gov (United States)

    Liao, Shunyao; Liu, Yunqiang; Chen, Xiaojuan; Tan, Yuande; Mei, Jie; Song, Wenzhong; Gan, Lu; Wang, Hailian; Yin, Shi; Dong, Xianjue; Chi, Shu; Deng, Shaoping

    2015-11-01

    We investigate the impact of genetic variants on transiently upregulated gestational insulin signaling. We recruited 1152 unrelated nondiabetic pregnant Han Chinese women (age 28.5 ± 4.1 years; body mass index [BMI] 21.4 ± 2.6 kg/m(2)) and gave them oral glucose tolerance tests. Matsuda index of insulin sensitivity, homeostatic model assessment of insulin resistance, indices of insulin disposition, early-phase insulin release, fasting state, and 0 to 120 minute's proinsulin to insulin conversion were used to dissect insulin physiological characterization. Several variants related to β-cell function were genotyped. The genetic impacts were analyzed using logistic regression under an additive model. By adjusting for maternal age, BMI, and the related interactions, the genetic variants in ABCC8, CDKAL1, CDKN2A, HNF1B, KCNJ11, and MTNR1B were detected to impact gestational insulin signaling through heterogeneous mechanisms; however, compared with that in nonpregnant metabolism, the genetic effects seem to be eminently and heavily influenced by maternal age and BMI, indicating possible particular mechanisms underlying gestational metabolism and diabetic pathogenesis. © The Author(s) 2015.

  10. Genetic and Dietary Determinants of Insulin-Like Growth Factor (IGF)-1 and IGF Binding Protein (BP)-3 Levels among Chinese Women

    Science.gov (United States)

    Li, Hui; McCullough, Lauren E.; Qi, Ya-na; Li, Jia-yuan; Zhang, Jing; Miller, Erline; Yang, Chun-xia; Smith, Jennifer S.

    2014-01-01

    Background Higher insulin-like growth factor (IGF)-1 and lower IGF binding protein (BP)-3 levels have been associated with higher commoncancer risk, including breast cancer. Dietary factors, genetic polymorphisms, and the combination of both may influence circulating IGF-1 and IGFBP-3 serum concentrations. Methods From September 2011 to July 2012, we collected demographic, reproductive and dietary data on 143 women (≥40 years). We genotyped IGF-1 rs1520220 and IGFBP-3 rs2854744 and measured circulating IGF-1 and IGFBP-3 levels in serum. Covariance analyses were used to estimate the associations of serum levels of IGF-1 and IGFBP-3, and the molar ratio of IGF-1to IGFBP-3 with IGF-1 rs1520220 and IGFBP-3 rs2854744 genotypes. We subsequently assessed the combined influence of genetics and diet (daily intake of protein, fat and soy isoflavones) on IGF-1 and IGFBP-3 levels. Results Among women aged less than 50 years, circulating IGF-1 serum levels were significantly lower for those with CC genotype for IGF-1 rs1520220 than levels for those with the GC or GG genotypes (in recessive model: P = 0.007).In gene-diet analyses among these women, we found carrying CC genotype for IGF-1 rs1520220 and high soy isoflavone intake tend to be associated with lower circulating IGF-1 levels synthetically (P = 0.002). Women with GG or GC genotypes for IGF-1 rs1520220 and with low intake of soy isoflavones had the highest levels of circulating IGF-1 (geometric mean [95% CI]: 195 [37, 1021] µg/L). Comparatively, women with both the CC genotype and high soy intake had the lowest levels of circulating IGF-1 (geometric mean [95% CI]: 120 [38,378] µg/L). Conclusions IGF-1 serum levels are significantly lower among women with the CC genotype for IGF-1-rs1520220. High soy isoflavone intake may interact with carrying CC genotype for IGF-1-rs1520220 to lower women's serum IGF-1 levels more. PMID:25285521

  11. Polymorphism in the GALNT1 gene and epithelial ovarian cancer in non-Hispanic white women: the Ovarian Cancer Association Consortium

    DEFF Research Database (Denmark)

    Phelan, Catherine M; Tsai, Ya-Yu; Goode, Ellen L

    2010-01-01

    Aberrant glycosylation is a well-described hallmark of cancer. In a previous ovarian cancer case control study that examined polymorphisms in 26 glycosylation-associated genes, we found strong statistical evidence (P = 0.00017) that women who inherited two copies of a single-nucleotide polymorphism...... sites but significant differences compared with the original study population (P = 0.03). This study underscores the need for replication of putative findings in genetic association studies....

  12. When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer.

    Science.gov (United States)

    Meiser, B; Quinn, V F; Gleeson, M; Kirk, J; Tucker, K M; Rahman, B; Saunders, C; Watts, K J; Peate, M; Geelhoed, E; Barlow-Stewart, K; Field, M; Harris, M; Antill, Y C; Mitchell, G

    2016-11-01

    Selection of women for treatment-focused genetic testing (TFGT) following a new diagnosis of breast cancer is changing. Increasingly a patient's age and tumour characteristics rather than only their family history are driving access to TFGT, but little is known about the impact of receiving carrier-positive results in individuals with no family history of cancer. This study assesses the role of knowledge of a family history of cancer on psychosocial adjustment to TFGT in both women with and without mutation carrier-positive results. In-depth semistructured interviews were conducted with 20 women who had undergone TFGT, and who had been purposively sampled to represent women both family history and carrier status, and subjected to a rigorous qualitative analysis. It was found that mutation carriers without a family history reported difficulties in making surgical decisions quickly, while in carriers with a family history, a decision regarding surgery, electing for bilateral mastectomy (BM), had often already been made before receipt of their result. Long-term adjustment to a mutation-positive result was hindered by a sense of isolation not only by those without a family history but also those with a family history who lacked an affected relative with whom they could identify. Women with a family history who had no mutation identified and who had not elected BM reported a lack of closure following TFGT. These findings indicate support deficits hindering adjustment to positive TFGT results for women with and without a family history, particularly in regard to immediate decision-making about risk-reducing surgery.

  13. Risk of postpartum psychosis after IVF treatment: a nationwide case-control study.

    Science.gov (United States)

    Vikström, Josefin; Josefsson, Ann; Hammar, Mats; Bladh, Marie; Sydsjö, Gunilla

    2017-01-01

    Is the risk of postpartum psychosis (PPP) increased in women who give birth after IVF treatment compared to after spontaneous conception? The risk of PPP is not higher in the group of women who give birth after IVF treatment compared with women who give birth after spontaneous conception. Women who conceive using IVF treatment can experience higher levels of pregnancy-specific distress and are at increased risk of pre-eclampsia, an immune-related condition which in turn has been linked to PPP, as well as other pregnancy and delivery complications, which also serve as PPP risk factors. It is not known whether the risk of PPP is increased in women who have conceived using IVF treatment. A nationwide, register-based, case-control study of all primiparous women who had given birth after IVF treatment between 1988 and 2012. Information about 10 412 women was collected from the Swedish IVF register. A control group of women who had given birth after spontaneous conception was selected from the Swedish Medical Birth Register (n = 18 624). PPP diagnoses, identified using ICD-10 diagnostic codes F20-31 and F531 the first year postpartum, were collected from the National Patient Register. Associations between PPP and IVF/spontaneous conception were evaluated using chi-square tests and logistic regression analyses while controlling for known risk factors of PPP. There were no differences in PPP prevalence between the IVF group and the control group (0.3%, n = 29 versus 0.4%, n = 77) in the chi-square analysis (P = 0.169) or the multiple logistic regression analyses (P = 0.646; odds ratio (OR): 1.178; 95% CI: 586-2.365). No associations between pregnancy or delivery complications and PPP were found. A history of any psychiatric disorder (P IVF treatment, more studies are needed to verify these results. The generalizability is restricted to primiparous women in western countries. This study confirms the results of previous studies in showing a history of mental illness to be

  14. Individual socioeconomic status and breast cancer diagnostic stages: a French case-control study.

    Science.gov (United States)

    Orsini, Mattea; Trétarre, Brigitte; Daurès, Jean-Pierre; Bessaoud, Faiza

    2016-06-01

    Health inequalities have increased over the last 30 years. Our goal was to investigate the relationship between low individual socioeconomic status and poor breast cancer prognosis. Our hypothesis was: low socioeconomic status patients have a higher risk of being diagnosed with late stage breast cancer than high socioeconomic status ones due to delayed diagnosis. We conducted a matched case-control study on 619 women with breast cancer, living in the Hérault, a French administrative area. Both Cases and Controls were recruited among invasive cases diagnosed in 2011 and 2012 and treated in Hérault care centers. Cases were defined as patients with advanced stages. Controls were composed of early stage patients. Individual socioeconomic status was assessed using a validated individual score adapted to the French population and health care system. We observed that low socioeconomic status patients have a 2-fold risk of having late stage breast cancer regardless of cancer characteristics and detection mode (screening vs. clinical signs). One reason explaining those results could be that low socioeconomic status patients have less regular follow-up which can lead to later and poorer diagnosis. Follow-up is improved for women with a better awareness of breast cancer. Health policy makers could reduce health inequalities by reducing the delay in breast cancer diagnosis for low socioeconomic status women. © The Author 2016. Published by Oxford University Press on behalf of the European Public Health Association. All rights reserved.

  15. Body Weight and Breast Cancer: Nested Case-Control Study in Southern Brazil.

    Science.gov (United States)

    Kops, Natália Luiza; Bessel, Marina; Caleffi, Maira; Ribeiro, Rodrigo Antonini; Wendland, Eliana Marcia

    2018-04-28

    Current studies have shown that fast weight gain may be more important than body mass index on the incidence of breast cancer. The aim of this study was to evaluate the association between body weight and breast cancer. This was a case-control study nested in a cohort of a breast cancer mammography screening program in Southern Brazil. A trained investigator administered a standardized interview to collect sociodemographic and clinical data, and body weight history (weight at menarche, at marriage, at first and last pregnancy, and at menopause). Current anthropometric measurements were also made. Fifty-seven women with cancer (66.7% postmenopausal) and 159 controls were included. Current age (60.3 ± 10.4 vs. 55.8 ± 8.4 years, P weight at different stages of life. Women with social vulnerability recruited at a mammography screening program in Southern Brazil showed a large weight gain during life, but no significant differences were found in body weight between women with or without breast cancer. Copyright © 2018 Elsevier Inc. All rights reserved.

  16. Is infertility a risk factor for female sexual dysfunction? A case-control study.

    Science.gov (United States)

    Millheiser, Leah S; Helmer, Amy E; Quintero, Rodolfo B; Westphal, Lynn M; Milki, Amin A; Lathi, Ruth B

    2010-11-01

    To determine the impact of infertility on female sexual function. A case-control study. Academic infertility and gynecology practices. One hundred nineteen women with infertility and 99 healthy female controls without infertility between the ages of 18 and 45 years were included in this study. Anonymous survey and Female Sexual Function Index. Female Sexual Function Index scores, frequency of sexual intercourse and masturbation, and sex-life satisfaction. Twenty-five percent of our control group had Female Sexual Function Index scores that put them at risk for sexual dysfunction (masturbation. The patients with infertility retrospectively reported a sex-life satisfaction score that was similar to that of the controls before their diagnosis, whereas their current sex-life satisfaction scores were significantly lower than those of the controls. Women with a diagnosis of infertility were found to be at higher risk for sexual dysfunction on the basis of their Female Sexual Function Index scores compared with women without infertility. The interaction of sexual function and infertility is complex and deserves further study. Copyright © 2010. Published by Elsevier Inc.

  17. Induced abortion and breast cancer: results from a population-based case control study in China.

    Science.gov (United States)

    Wu, Jun-Qing; Li, Yu-Yan; Ren, Jing-Chao; Zhao, Rui; Zhou, Ying; Gao, Er-Sheng

    2014-01-01

    To determine whether induced abortion (IA) increases breast cancer (BC) risk. A population-based case-control study was performed from Dec, 2000 to November, 2004 in Shanghai, China, where IA could be verified through the family planning network and client medical records. Structured questionnaires were completed by 1,517 cases with primary invasive epithelial breast cancer and 1,573 controls frequency- matched to cases for age group. The information was supplemented and verified by the family planning records. Statistical analysis was conducted with SAS 9.0. After adjusting for potential confounders, induced abortions were not found to be associated with breast cancer with OR=0.94 (95%CI= 0.79-1.11). Compared to parous women without induced abortion, parous women with 3 or more times induced abortion (OR=0.66, 95%CI=0.46 to 0.95) and women with 3 or more times induced abortion after the first live birth (OR=0.66, 95%CI =0.45 to 0.97) showed a lower risk of breast cancer, after adjustment for age, level of education, annual income per capita, age at menarche, menopause, parity times, spontaneous abortion, age at first live birth, breast-feeding, oral contraceptives, hormones drug, breast disease, BMI, drinking alcohol, drinking tea, taking vitamin/calcium tablet, physical activity, vocation, history of breast cancer, eating the bean. The results suggest that a history of induced abortions may not increase the risk of breast cancer.

  18. Alcohol and Difficulty Conceiving in the SUN Cohort: A Nested Case-Control Study.

    Science.gov (United States)

    Lopez-del Burgo, Cristina; Gea, Alfredo; de Irala, Jokin; Martínez-González, Miguel A; Chavarro, Jorge E; Toledo, Estefania

    2015-07-27

    The role of alcohol on fertility remains unclear. We aimed to investigate the association between alcohol and specific alcoholic beverages consumption and the risk of difficulty getting pregnant. We used a case-control study nested within the Seguimiento Universidad de Navarra (SUN) cohort, a prospective, dynamic and multipurpose cohort of 21,705 Spanish university graduates, followed biennially with mailed questionnaires. We identified 686 case-control pairs, matched for age and time in the cohort. Cases were women reporting difficulty getting pregnant. Controls did not consult due to difficulty conceiving and had at least one child during follow-up. After adjustment for potential confounders, we found no association between self-reported difficulty getting pregnant and the number of alcoholic beverages consumed per week, (Odds Ratio [OR] > 5 drinks/week vs. none = 1.04, 95% Confidence Interval [CI] = 0.72-1.51). No association between types of alcoholic beverage and difficulty conceiving (OR > 5 drinks of wine/week vs. none = 1.16, 95% CI = 0.72-1.88; OR > 5 drinks of beer/week vs. none = 1.06, 95% CI = 0.82-1.37; OR > 5 drinks of spirits/week vs. none = 1.24, 95% CI = 0.84-1.64) was observed. In conclusion, we found no association between alcohol intake and risk of consulting a physician due to difficulty conceiving. More studies are needed to clearly elucidate the effects of alcohol intake on women's fertility. In the meantime, recommendations about alcohol intake to couples trying to conceive have to be given cautiously.

  19. The association between dietary lignans, phytoestrogen-rich foods, and fiber intake and postmenopausal breast cancer risk: a German case-control study

    NARCIS (Netherlands)

    Zaineddin, A.K.; Buck, K.; Vrieling, A.; Heinz, J.; Flesch-Janys, D.; Linseisen, J.; Chang-Claude, J.

    2012-01-01

    Phytoestrogens are structurally similar to estrogens and may affect breast cancer risk by mimicking estrogenic/antiestrogenic properties. In Western societies, whole grains and possibly soy foods are rich sources of phytoestrogens. A population-based case-control study in German postmenopausal women

  20. Body Mass Index, Smoking and Hypertensive Disorders during Pregnancy: A Population Based Case-Control Study.

    Directory of Open Access Journals (Sweden)

    Thuridur A Gudnadóttir

    Full Text Available While obesity is an indicated risk factor for hypertensive disorders of pregnancy, smoking during pregnancy has been shown to be inversely associated with the development of preeclampsia and gestational hypertension. The purpose of this study was to investigate the combined effects of high body mass index and smoking on hypertensive disorders during pregnancy. This was a case-control study based on national registers, nested within all pregnancies in Iceland 1989-2004, resulting in birth at the Landspitali University Hospital. Cases (n = 500 were matched 1:2 with women without a hypertensive diagnosis who gave birth in the same year. Body mass index (kg/m2 was based on height and weight at 10-15 weeks of pregnancy. We used logistic regression models to calculate odds ratios and corresponding 95% confidence intervals as measures of association, adjusting for potential confounders and tested for additive and multiplicative interactions of body mass index and smoking. Women's body mass index during early pregnancy was positively associated with each hypertensive outcome. Compared with normal weight women, the multivariable adjusted odds ratio for any hypertensive disorder was 1.8 (95% confidence interval, 1.3-2.3 for overweight women and 3.1 (95% confidence interval, 2.2-4.3 for obese women. The odds ratio for any hypertensive disorder with obesity was 3.9 (95% confidence interval 1.8-8.6 among smokers and 3.0 (95% confidence interval 2.1-4.3 among non-smokers. The effect estimates for hypertensive disorders with high body mass index appeared more pronounced among smokers than non-smokers, although the observed difference was not statistically significant. Our findings may help elucidate the complicated interplay of these lifestyle-related factors with the hypertensive disorders during pregnancy.