title: Associations of common polymorphisms in GCKR with type 2 diabetes and related traits in a Han Chinese population: a case-control study.
abstract: BACKGROUND
  Several studies have shown that variants in the glucokinase regulatory protein gene (GCKR) were associated with type 2 diabetes and dyslipidemia. The purpose of this study was to examine whether tag single nucleotide polymorphisms (SNPs) in the GCKR region were associated with type 2 diabetes and related traits in a Han Chinese population and to identify the potential mechanisms underlying these associations.
  
  
  METHODS
  We investigated the association of polymorphisms in the GCKR gene with type 2 diabetes by employing a case-control study design (1118 cases and 1161 controls). Four tag SNPs (rs8179206, rs2293572, rs3817588 and rs780094) with pairwise r2>0.8 and minor allele frequency>0.05 across the GCKR gene and its flanking regions were studied and haplotypes were constructed. Genotyping was performed by matrix-assisted laser desorption/ionization time-of-flight mass spectroscopy using a MassARRAY platform.
  
  
  RESULTS
  The G alleles of GCKR rs3817588 and rs780094 were associated with an increased risk of type 2 diabetes after adjustment for year of birth, sex and BMI (OR=1.24, 95% CI 1.08-1.43, p=0.002 and OR=1.22, 95% CI 1.07-1.38, p=0.002, respectively). In the non-diabetic controls, the GG carriers of rs3817588 and rs780094 were nominally associated with a lower plasma triglyceride level compared to the AA carriers after adjustment for year of birth, sex and BMI (p for trend=0.00004 and 0.03, respectively). Furthermore, the association of rs3817588 with plasma triglyceride level was still significant after correcting for multiple testing.
  
  
  CONCLUSIONS
  The rs3817588 A/G polymorphism of the GCKR gene was associated with type 2 diabetes and plasma triglyceride level in the Han Chinese population.
authors.affiliation: Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Ling
authors.forename: Xiaomu
authors.initials: X
authors.lastname: Li
authors.forename: Qian
authors.initials: Q
authors.lastname: Gu
authors.forename: Hongyan
authors.initials: H
authors.lastname: Chen
authors.forename: Daru
authors.initials: D
authors.lastname: Lu
authors.forename: Xin
authors.initials: X
authors.lastname: Gao
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D001786:Blood Glucose / Q000235:genetics; D001794:Blood Pressure / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D002784:Cholesterol / Q000097:blood / Q000235:genetics; D008076:Cholesterol, HDL / Q000097:blood / Q000235:genetics; D008078:Cholesterol, LDL / Q000097:blood / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood / Q000235:genetics; D055105:Waist Circumference
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D001786:Blood Glucose; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; C485100:GCKR protein, human; D014280:Triglycerides; D002784:Cholesterol