HMGA1 多态性与中国人 2 型糖尿病风险增加相关。
Polymorphism of HMGA1 is associated with increased risk of type 2 diabetes among Chinese individuals.
机构信息
Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095 Jiefang Avenue, 430030 Wuhan, People's Republic of China.
出版信息
Diabetologia. 2012 Jun;55(6):1685-8. doi: 10.1007/s00125-012-2518-0. Epub 2012 Mar 13.
AIMS/HYPOTHESIS: Variants of the high-mobility group A1 (HMGA1) gene have been shown to be associated with insulin resistance and type 2 diabetes in individuals of European origin. We aimed to determine whether this locus confers significant susceptibility to type 2 diabetes in the Han Chinese population, and thus cross-race susceptibility to type 2 diabetes.
METHODS
Polymorphisms in HMGA1 were identified by direct sequencing of genomic DNA derived from 192 Chinese participants (96 patients with type 2 diabetes and 96 controls). We then genotyped the common variant IVS5-13insC (c.136-14_136-13insC) in two other independent cohorts, including a total of 2,533 cases and 2,643 ethnically matched controls.
RESULTS
We confirmed the association of the HMGA1 variant IVS5-13insC (c.136-14_136-13insC) with type 2 diabetes with an OR of 1.34 (95% CI 1.15, 1.56, p = 0.0002 under a dominant model, and 95% CI 1.16, 1.55, p = 0.0002 under an additive model) in the Han Chinese population, corresponding to a population attributable risk fraction of 5.0%.
CONCLUSIONS/INTERPRETATION: HMGA1 is an important susceptibility locus that confers a high cross-race risk of the development of type 2 diabetes.
目的/假设：高迁移率族 A1（HMGA1）基因的变体已被证明与欧洲血统个体的胰岛素抵抗和 2 型糖尿病有关。我们旨在确定该基因座是否在汉族人群中赋予 2 型糖尿病的显著易感性，从而赋予 2 型糖尿病的跨种族易感性。
方法
通过对 192 名中国参与者（96 名 2 型糖尿病患者和 96 名对照）的基因组 DNA 进行直接测序，确定 HMGA1 多态性。然后，我们在另外两个独立的队列中对常见变体 IVS5-13insC（c.136-14_136-13insC）进行了基因分型，总共包括 2533 例病例和 2643 名种族匹配的对照。
结果
我们证实了 HMGA1 变体 IVS5-13insC（c.136-14_136-13insC）与 2 型糖尿病的关联，在汉族人群中，显性模型下的 OR 为 1.34（95%CI 1.15，1.56，p=0.0002），加性模型下的 OR 为 1.34（95%CI 1.15，1.56，p=0.0002），对应的人群归因风险分数为 5.0%。
结论/解释：HMGA1 是一个重要的易感基因座，赋予 2 型糖尿病发生的高跨种族风险。
Zotero 插件