Elbein Steven C
University of Arkansas for Medical Sciences, Little Rock, and Central Arkansas Veterans Healthcare System, Little Rock, Arkansas, USA.
J Diabetes Sci Technol. 2009 Jul 1;3(4):685-9. doi: 10.1177/193229680900300412.
Type 2 diabetes mellitus (T2DM) is among the many common diseases with a strong genetic component, but until recently, the variants causing this disease remained largely undiscovered. With the ability to interrogate most of the variation in the genome, the number of genetic variants has grown from 2 to 19 genes, many with multiple variants. An additional three genes are associated primarily with fasting glucose rather than T2DM. Despite the plethora of new markers, the individual effect is uniformly small, and the cumulative effect explains little of the genetic risk for T2DM. Furthermore, the success is largely restricted to European populations. Despite success in mapping genes in Asian populations, success in United States minorities, particularly African Americans, has been limited. The genetic findings highlight the role of the beta cell in diabetes pathogenesis, but much remains to be discovered before genetic prediction and individualized medicine can become a reality for this disease.
2型糖尿病（T2DM）是众多具有强大遗传成分的常见疾病之一，但直到最近，导致这种疾病的变异基因在很大程度上仍未被发现。随着对基因组中大部分变异进行探究的能力的提升，遗传变异基因的数量已从2个增加到19个，其中许多基因具有多个变异。另外三个基因主要与空腹血糖相关，而非与2型糖尿病相关。尽管有大量新的标记物，但单个标记物的作用都很小，累积效应也只能解释2型糖尿病遗传风险的一小部分。此外，这一成果在很大程度上仅限于欧洲人群。尽管在亚洲人群中进行基因定位取得了成功，但在美国少数族裔，尤其是非裔美国人中，取得的成功有限。这些遗传研究结果凸显了β细胞在糖尿病发病机制中的作用，但在基因预测和个体化医疗成为这种疾病的现实之前，仍有许多有待发现的地方。
