Qi Ma1, Li Wang1, Hua Yao1, Ting-ting Wang2, Yan Ma2, Yin-xia Su2, Zhi-qiang Wang2, Jun Zhu3, Shu-xia Wang4, Zhao-Xia Zhang5, Qin-qin Hou6, Ren Cai6, Xue-li Gong7, Xiao-yan Jiang8. 1. 1 Key Laboratory of Xinjiang Metabolic Disease, Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China . 2. 2 Department of Occupational and Environmental Health, Xinjiang Medical University , Urumqi, China . 3. 3 Department of Endocrinology, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China . 4. 4 Department of Cadre Healthcare, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China . 5. 5 Department of Laboratory Medicine, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China . 6. 6 Specimen Bank of Xinjiang Key Diseases, Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China . 7. 7 Department of Pathophysiology, Xinjiang Medical University , Urumqi, China . 8. 8 Key Laboratory of Arrhythmias of the Ministry of Education of China, Tongji University School of Medicine , Shanghai, China .
Abstract
OBJECTIVE: To investigate the association between KCNQ1 gene polymorphisms and type 2 diabetes (T2D) in an admixed ethnic minority, Uyghur population, living in the Northwest region of China. MATERIALS AND METHODS: We genotyped three tagging single-nucleotide polymorphisms rs2283171, rs11023485, and rs2283208 of the KCNQ1 gene in 1006 T2D participants and 1004 controls and conducted association analysis. RESULTS: The frequencies of the AG and GG genotypes and the G allele of rs2283171 were higher in the control group (51.4%, 22%, and 47.7%, respectively) than in the case group (49%, 17.6%, and 42.1%, respectively). The minor G allele decreased the risk of T2D with a per-allele odds ratio of 0.79 (95% CI: 0.70-0.90) for the additive genetic model in univariate analysis (p = 0.0001). After adjustment for the covariates of age, gender, smoking, alcohol use, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), triglyceride (TG), and total cholesterol (TC), the diabetic protective effect of the rs2283171-G allele remained. No difference was observed in the frequency distributions of the rs11023485 and rs2283208 genotypes between the two groups. CONCLUSION: We identified a novel association between rs2283171 of KCNQ1 and T2D in the Uyghur population. Further association and functional studies are required to identify the causal functional variant that is in linkage disequilibrium with this polymorphism.
OBJECTIVE: To investigate the association between KCNQ1 gene polymorphisms and type 2 diabetes (T2D) in an admixed ethnic minority, Uyghur population, living in the Northwest region of China. MATERIALS AND METHODS: We genotyped three tagging single-nucleotide polymorphisms rs2283171, rs11023485, and rs2283208 of the KCNQ1 gene in 1006 T2D participants and 1004 controls and conducted association analysis. RESULTS: The frequencies of the AG and GG genotypes and the G allele of rs2283171 were higher in the control group (51.4%, 22%, and 47.7%, respectively) than in the case group (49%, 17.6%, and 42.1%, respectively). The minor G allele decreased the risk of T2D with a per-allele odds ratio of 0.79 (95% CI: 0.70-0.90) for the additive genetic model in univariate analysis (p = 0.0001). After adjustment for the covariates of age, gender, smoking, alcohol use, systolic blood pressure (SBP), diastolic blood pressure (DBP), body mass index (BMI), triglyceride (TG), and total cholesterol (TC), the diabetic protective effect of the rs2283171-G allele remained. No difference was observed in the frequency distributions of the rs11023485 and rs2283208 genotypes between the two groups. CONCLUSION: We identified a novel association between rs2283171 of KCNQ1 and T2D in the Uyghur population. Further association and functional studies are required to identify the causal functional variant that is in linkage disequilibrium with this polymorphism.
Authors: S D Rees; M Z I Hydrie; A S Shera; S Kumar; J P O'Hare; A H Barnett; A Basit; M A Kelly Journal: Diabetologia Date: 2011-02-25 Impact factor: 10.122
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