Supplementary Material for: Polymorphisms in <i>KCNQ1</i> Are Associated with Gestational Diabetes in a Korean Population
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<i>Background:</i> Recent genome-wide association studies in East Asians have identified polymorphisms in <i>KCNQ1</i> as new type 2 diabetes risk variants. The aim of this study was to investigate whether variants in <i>KCNQ1</i> are associated with development of gestational diabetes mellitus (GDM) and measures of oral glucose tolerance test (OGTT) at the time of diagnosis of GDM. <i>Methods:</i> Three candidate single nucleotide polymorphisms (rs2074196, rs2237892, and rs2237895) were genotyped in 869 Korean GDM women and 632 nondiabetic control subjects. Insulin resistance was estimated by homeostasis model assessment and pancreatic β-cell function by the insulinogenic index at 1 h. <i>Results:</i> rs2074196 and rs2237892 were associated with the risk of GDM (OR 1.17, 95% CI 1.01–1.36, p<i> = </i>0.039; OR 1.24, 95% CI 1.07–1.45, p<i> = </i>0.0049). Furthermore, rs2237892 and rs2237895 were nominally associated with a decreased insulinogenic index at the time of GDM diagnosis (p = 0.025 and p = 0.037), whereas no association was observed with measures of insulin resistance. <i>Conclusions:</i> The single nucleotide polymorphisms in <i>KCNQ1</i> showed a significant association with GDM in the Korean population. Although the mechanism is not yet clear, it could be possible that variants in <i>KCNQ1</i> confer a risk for GDM by altering pancreatic β-cell function.
<i>背景：</i>近期针对东亚人群的全基因组关联研究（Genome-Wide Association Study）已将KCNQ1基因（KCNQ1）的多态性位点鉴定为新型2型糖尿病风险变异。本研究旨在探究KCNQ1基因的变异是否与妊娠期糖尿病（Gestational Diabetes Mellitus, GDM）的发生，以及妊娠期糖尿病确诊时的口服葡萄糖耐量试验（Oral Glucose Tolerance Test, OGTT）各项指标相关。 <i>方法：</i>本研究对869名韩国妊娠期糖尿病女性受试者与632名非糖尿病对照受试者的3个候选单核苷酸多态性（Single Nucleotide Polymorphism, SNP）位点（rs2074196、rs2237892及rs2237895）进行了基因分型；采用稳态模型评估法计算胰岛素抵抗水平，以1小时胰岛素生成指数评估胰腺β细胞功能。 <i>结果：</i>rs2074196与rs2237892均与妊娠期糖尿病风险显著相关（比值比OR=1.17，95%置信区间CI=1.01~1.36，p=0.039；OR=1.24，95%CI=1.07~1.45，p=0.0049）。此外，rs2237892与rs2237895在妊娠期糖尿病确诊时与胰岛素生成指数降低存在名义统计学关联（p=0.025及p=0.037），但未观察到与胰岛素抵抗指标的关联。 <i>结论：</i>韩国人群中KCNQ1基因的单核苷酸多态性位点与妊娠期糖尿病存在显著关联。尽管具体发病机制尚未明确，但KCNQ1基因变异或可通过改变胰腺β细胞功能，增加妊娠期糖尿病的发病风险。
