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东亚人群 2 型糖尿病的遗传学研究。

Genetics of type 2 diabetes in East Asian populations.

机构信息

Department of Biomedical Science, Hallym University, Gangwon-do, Chuncheon, 200-702, Republic of Korea.

出版信息

Curr Diab Rep. 2012 Dec;12(6):686-96. doi: 10.1007/s11892-012-0326-z.

Abstract

Because type 2 diabetes (T2D) is highly familial, there has been a concentrated effort to uncover the genetic basis of T2D worldwide over the last decade. In East Asians, T2D is experiencing a rapidly rising prevalence that is characterized by a relatively lower body mass index, as compared with that in Europeans. To date, at least 15 convincing T2D loci have been identified from large-scale genome-wide association studies and meta-analyses in East Asians. Many of these are likely responsible for pancreatic β cell function, as indicated in studies from Europeans. Many T2D loci have been replicated across the ethnic groups. There are, however, substantial interethnic differences in frequency and effect size of these risk alleles. Despite accumulating genetic information on T2D, there are still limitations in our ability to explain the rapidly rising prevalence and lean phenotype of disease observed in East Asians, suggesting that more extensive work using diverse research strategies is needed in the future.

摘要

由于 2 型糖尿病(T2D)具有高度的家族遗传性,在过去十年中,全世界都在集中精力揭示 T2D 的遗传基础。在东亚人群中,T2D 的患病率正在迅速上升,其特点是与欧洲人群相比,身体质量指数相对较低。迄今为止,至少有 15 个令人信服的 T2D 位点已从东亚地区的大规模全基因组关联研究和荟萃分析中确定。许多这些位点可能与欧洲人群的研究结果一样,与胰岛β细胞功能有关。许多 T2D 位点在不同种族群体中得到了复制。然而,这些风险等位基因的频率和效应大小在不同种族之间存在很大差异。尽管关于 T2D 的遗传信息不断增加,但我们仍然无法解释在东亚人群中观察到的疾病患病率迅速上升和消瘦表型,这表明未来需要使用更多不同的研究策略来开展更广泛的工作。

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