Liu Y, Zhou D Z, Zhang D, Chen Z, Zhao T, Zhang Z, Ning M, Hu X, Yang Y F, Zhang Z F, Yu L, He L, Xu H
Key Laboratory of Nutrition and Metabolism, Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Graduate School of the Chinese Academy of Sciences, 294 Taiyuan Road, Shanghai, People's Republic of China.
Diabetologia. 2009 Jul;52(7):1315-21. doi: 10.1007/s00125-009-1375-y. Epub 2009 May 12.
AIMS/HYPOTHESIS: Two recent genome-wide association studies have identified several novel type 2 diabetes susceptibility variants in intron 15 of the KCNQ1 gene. We aimed to evaluate the effects of the variants in KCNQ1 on type 2 diabetes and metabolic traits in the population of mainland China.
Three candidate single nucleotide polymorphisms were genotyped in 1,912 individuals with type 2 diabetes and 2,041 normal controls using the ligase detection reaction method.
We confirmed the association of KCNQ1 with type 2 diabetes in the population of mainland China. Allele frequency ORs of the three single nucleotide polymorphisms (SNPs) were: rs2237892 (OR 1.19, 95% CI 1.08-1.31, p = 3.0 x 10(-4)); rs2237895 (OR 1.20, 95% CI 1.09-1.32, p = 1.9 x 10(-4)); and rs2237897 (OR 1.24, 95% CI 1.13-1.36, p = 3.9 x 10(-5)). We also found a significant difference in the distribution of the global haplotypes between the type 2 diabetes group and the normal control group (p = 2.6 x 10(-5)). In addition, in the control group SNP rs2237892 was marginally associated with increasing fasting plasma glucose and SNPs rs2237892 and rs2237897 were associated with HbA(1c). Furthermore, for all three variants, homozygous carriers of the diabetes-associated allele had significantly decreased BMI and waist circumferences.
CONCLUSIONS/INTERPRETATION: Our investigation confirmed the effects of KCNQ1 variants on type 2 diabetes risk in the Chinese population.
目的/假设：两项近期的全基因组关联研究在KCNQ1基因第15内含子中发现了几个新的2型糖尿病易感变异。我们旨在评估KCNQ1基因变异对中国大陆人群2型糖尿病和代谢特征的影响。
采用连接酶检测反应法对1912例2型糖尿病患者和2041例正常对照者进行了3个候选单核苷酸多态性的基因分型。
我们证实了KCNQ1基因与中国大陆人群2型糖尿病的关联。3个单核苷酸多态性（SNP）的等位基因频率比值比分别为：rs2237892（比值比1.19，95%可信区间1.08 - 1.31，p = 3.0×10⁻⁴）；rs2237895（比值比1.20，95%可信区间1.09 - 1.32，p = 1.9×10⁻⁴）；以及rs2237897（比值比1.24，95%可信区间1.13 - 1.36，p = 3.9×10⁻⁵）。我们还发现2型糖尿病组和正常对照组之间的整体单倍型分布存在显著差异（p = 2.6×10⁻⁵）。此外，在对照组中，SNP rs2237892与空腹血糖升高有边缘关联，SNP rs2237892和rs2237897与糖化血红蛋白（HbA₁c）有关联。此外，对于所有这3个变异，糖尿病相关等位基因的纯合携带者的体重指数（BMI）和腰围显著降低。
结论/解读：我们的研究证实了KCNQ1基因变异对中国人群2型糖尿病风险的影响。
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