Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population.
Common variants of hepatocyte nuclear factor 1beta are associated with type 2 diabetes in a Chinese population.
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作者：
Wang C;Hu C;Zhang R;Bao Y;Ma X;Lu J;Qin W;Shao X;Lu J;Xu J;Lu H;Xiang K;Jia W
肝细胞核因子1β（HNF 1 β）是一种转录因子，对胰腺细胞形成和葡萄糖稳态至关重要。先前的研究已经报道，HNF 1 β的常见变异与高加索人和西非人的2型糖尿病相关。然而，Botnia研究和马尔默预防项目的受试者分析产生了相互矛盾的结果，HNF 1 β在2型糖尿病易感性中的作用仍不清楚。因此，我们研究了中国人群中HNF 1 β基因的常见变异。在2型糖尿病（n = 1，859）和正常血糖调节（n = 1，785）受试者中，分析了15个标记单核苷酸多态性（SNP）与2型糖尿病的相关性。与最初的研究一致，我们观察到证据表明内含子2中rs 4430796的风险G等位基因与2型糖尿病显著相关（比值比1.16 [95%CI 1.05-1.29]，P = 0.0035，经验P = 0.0475）。此外，在2型糖尿病患者中，高危G等位基因与早期诊断年龄相关（P = 0.0228）。本研究结果为HNF 1 β区域变异与中国人群2型糖尿病易感性的关系提供了证据。
Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor that is critical for pancreatic cell formation and glucose homeostasis. Previous studies have reported that common variants of HNF1β were associated with type 2 diabetes in Caucasians and West Africans. However, analysis in the subjects from the Botnia study and Malmö Preventive Project produced conflicting results, and the role for HNF1β in type 2 diabetes susceptibility remains unclear. We therefore investigated common variants across the HNF1β gene in a Chinese population. Fifteen tagging single nucleotide polymorphisms (SNPs) were analyzed for association with type 2 diabetes in subjects with type 2 diabetes (n = 1,859) and normal glucose regulation (n = 1,785). Consistent with the initial study, we observed evidence that the risk G allele of rs4430796 in intron 2 was significantly associated with type 2 diabetes (odds ratio 1.16 [95% CI 1.05–1.29], P = 0.0035, empirical P = 0.0475). Furthermore, the at-risk G allele was associated with earlier age at diagnosis in the type 2 diabetic subjects (P = 0.0228). The result of this study provides evidence that variants in the HNF1β region contribute to susceptibility to type 2 diabetes in the Chinese population.