The emerging genetic architecture of type 2 diabetes.

The emerging genetic architecture of type 2 diabetes.
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DOI:
10.1016/j.cmet.2008.08.006
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发表时间:
2008-09
期刊:
影响因子:
29
通讯作者:
Kahn CR
Kahn CR
中科院分区:
生物学1区
文献类型:
--
作者:
Doria A;Patti ME;Kahn CR

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2型糖尿病是一种遗传异质性疾病,有几种相对罕见的单基因形式和一些更常见的形式,这些形式是遗传和环境因素复杂相互作用的结果。以前使用候选基因方法、家族连锁研究和基因表达谱的研究发现了一些2型基因,但常见的2型糖尿病的遗传基础仍不清楚。最近,通过对非常大的糖尿病个体群体进行全基因组SNP关联研究,定义潜在的2型糖尿病基因的新窗口已经打开。这篇综述探讨了这些遗传效应的发现途径,这些遗传位点对糖尿病风险的影响,这些基因改变血糖稳态的潜在作用机制,以及这些研究在确定遗传学在这种重要疾病中的作用方面的局限性。
Type 2 diabetes is a genetically heterogeneous disease, with several relatively rare monogenic forms and a number of more common forms resulting from a complex interaction of genetic and environmental factors. Previous studies using a candidate gene approach, family linkage studies, and gene expression profiling uncovered a number of type 2 genes, but the genetic basis of common type 2 diabetes remained unknown. Recently, a new window has opened on defining potential type 2 diabetes genes through genome-wide SNP association studies of very large populations of individuals with diabetes. This review explores the pathway leading to discovery of these genetic effects, the impact of these genetic loci on diabetes risk, the potential mechanisms of action of the genes to alter glucose homeostasis, and the limitations of these studies in defining the role of genetics in this important disease.
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