title: Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population.
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.
  
  
  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.
  
  
  CONCLUSIONS
  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.affiliation: 1 Key Laboratory of Xinjiang Metabolic Disease, Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Qi
authors.initials: Q
authors.lastname: Ma
authors.affiliation: 1 Key Laboratory of Xinjiang Metabolic Disease, Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Li
authors.initials: L
authors.lastname: Wang
authors.affiliation: 1 Key Laboratory of Xinjiang Metabolic Disease, Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Hua
authors.initials: H
authors.lastname: Yao
authors.affiliation: 2 Department of Occupational and Environmental Health, Xinjiang Medical University , Urumqi, China .
authors.forename: Ting-ting
authors.initials: TT
authors.lastname: Wang
authors.affiliation: 2 Department of Occupational and Environmental Health, Xinjiang Medical University , Urumqi, China .
authors.forename: Yan
authors.initials: Y
authors.lastname: Ma
authors.affiliation: 2 Department of Occupational and Environmental Health, Xinjiang Medical University , Urumqi, China .
authors.forename: Yin-xia
authors.initials: YX
authors.lastname: Su
authors.affiliation: 2 Department of Occupational and Environmental Health, Xinjiang Medical University , Urumqi, China .
authors.forename: Zhi-qiang
authors.initials: ZQ
authors.lastname: Wang
authors.affiliation: 3 Department of Endocrinology, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Jun
authors.initials: J
authors.lastname: Zhu
authors.affiliation: 4 Department of Cadre Healthcare, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Shu-xia
authors.initials: SX
authors.lastname: Wang
authors.affiliation: 5 Department of Laboratory Medicine, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Zhao-Xia
authors.initials: ZX
authors.lastname: Zhang
authors.affiliation: 6 Specimen Bank of Xinjiang Key Diseases, Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Qin-qin
authors.initials: QQ
authors.lastname: Hou
authors.affiliation: 6 Specimen Bank of Xinjiang Key Diseases, Clinical Medical Research Institute, the First Affiliated Hospital of Xinjiang Medical University , Urumqi, China .
authors.forename: Ren
authors.initials: R
authors.lastname: Cai
authors.affiliation: 7 Department of Pathophysiology, Xinjiang Medical University , Urumqi, China .
authors.forename: Xue-li
authors.initials: XL
authors.lastname: Gong
authors.affiliation: 8 Key Laboratory of Arrhythmias of the Ministry of Education of China, Tongji University School of Medicine , Shanghai, China .
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Jiang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D003924:Diabetes Mellitus, Type 2 / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D051657:KCNQ1 Potassium Channel; C496909:KCNQ1 protein, human