Department of Biostatistics, University of Liverpool, Liverpool, UK.
Curr Opin Genet Dev. 2018 Jun;50:41-51. doi: 10.1016/j.gde.2018.02.003. Epub 2018 Feb 21.
Candidate gene, genome-wide association, exome array and sequencing studies have identified more than 140 loci associated with type 2 diabetes (T2D) susceptibility. In this review, progress in understanding the genetic architecture of T2D susceptibility across diverse populations and in localising potential causal variants for the disease through fine-mapping studies is discussed. The additional insights gained from these genetic studies into novel molecular mechanisms and pathophysiology underlying T2D susceptibility are described, and the prospects for future genomic investigations of the disease are considered.
候选基因、全基因组关联、外显子组芯片和测序研究已经确定了 140 多个与 2 型糖尿病(T2D)易感性相关的基因位点。在这篇综述中,讨论了在不同人群中理解 T2D 易感性的遗传结构以及通过精细映射研究定位疾病潜在因果变异的进展。描述了这些遗传研究对 T2D 易感性潜在分子机制和病理生理学的新见解,并考虑了未来对该疾病的基因组研究前景。