Univ Lille Nord de France, F-59000 Lille, France.
Trends Mol Med. 2010 Sep;16(9):407-16. doi: 10.1016/j.molmed.2010.06.004. Epub 2010 Aug 20.
The elucidation of several genetic etiologies of both monogenic and polygenic type 2 diabetes (T2D) has revealed several key regulators of glucose homeostasis and insulin secretion in humans. Genome-wide association studies (GWAS) have been instrumental in most of these recent discoveries. The T2D susceptibility genes identified so far are mainly involved in pancreatic beta-cell maturation or function. However, common DNA variants in those genes only explain approximately 10% of T2D heritability. The resequencing of whole exomes and whole genomes with next-generation technologies should identify additional genetic changes that contribute to the monogenic forms of diabetes and possibly provide novel clues to the genetic architecture of common adult T2D.
阐明了几种单基因和多基因 2 型糖尿病（T2D）的遗传病因，揭示了人类葡萄糖稳态和胰岛素分泌的几个关键调节剂。全基因组关联研究（GWAS）在这些最近的发现中起了重要作用。迄今为止，已鉴定的 T2D 易感基因主要涉及胰岛β细胞的成熟或功能。然而，这些基因中的常见 DNA 变体仅解释了大约 10%的 T2D 遗传性。利用下一代技术对整个外显子组和全基因组进行重测序，应该可以识别出导致单基因糖尿病的其他遗传变化，并可能为常见成人 T2D 的遗传结构提供新的线索。
