Owen Katharine R, McCarthy Mark I
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital Old Road, Headington, Oxford, OX3 7LJ, UK.
Curr Opin Genet Dev. 2007 Jun;17(3):239-44. doi: 10.1016/j.gde.2007.04.003. Epub 2007 Apr 26.
Identification and characterization of genetic variants that either cause or predispose to diabetes are a major focus of biomedical research. As of early 2007, the molecular basis of most forms of monogenic diabetes resulting from beta-cell dysfunction is known and, in particular, there has been recent success in delineating the genetic aetiology of neonatal diabetes. Finding genes predisposing to more common, multifactorial forms of type 2 diabetes represents a far greater challenge, and only a handful of robust, well-replicated examples have been established. Nevertheless, 2006 heralded identification of the most important type 2 diabetes susceptibility gene known so far, TCF7L2, and in 2007 large-scale genome-wide association studies are destined to provide novel insights into the genetic architecture and biology of type 2 diabetes.
识别和鉴定导致糖尿病或易患糖尿病的基因变异是生物医学研究的主要重点。截至2007年初,大多数由β细胞功能障碍引起的单基因糖尿病的分子基础已为人所知,尤其是最近在阐明新生儿糖尿病的遗传病因方面取得了成功。寻找易患更常见的多因素2型糖尿病的基因则面临更大的挑战,目前仅确定了少数几个可靠且得到充分验证的例子。尽管如此,2006年迎来了迄今已知的最重要的2型糖尿病易感基因TCF7L2的发现,2007年大规模全基因组关联研究注定会为2型糖尿病的遗传结构和生物学提供新的见解。