The genetic and epigenetic basis of type 2 diabetes and obesity.

The genetic and epigenetic basis of type 2 diabetes and obesity.
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DOI:
10.1038/clpt.2012.149
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发表时间:
2012-12
影响因子:
6.7
通讯作者:
McCarthy MI
McCarthy MI
中科院分区:
医学2区
文献类型:
--
作者:
Drong AW;Lindgren CM;McCarthy MI

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2型糖尿病(T2D)和肥胖是构成重大公共卫生问题的复杂疾病。T2D和肥胖症的家庭聚集的证据是确凿的。到目前为止,超过150个遗传位点与T2D或肥胖的单基因、综合征或多因素形式的发展有关。然而,这些相关基因座解释的总体性状变异的比例并不大(T2D约5-10%,体重指数(BMI)约2%)。一些不能归因于已知遗传变异的家族聚集,以及环境暴露的许多影响,可能反映了表观遗传过程。在这篇综述中,我们讨论了关于遗传因素对个体T2D和肥胖风险的贡献的证据,并探索了表观遗传机制的潜在作用。我们还解释了遗传学、表观遗传学和环境如何相互作用来定义个体的疾病风险。
Type 2 diabetes (T2D) and obesity are complex disorders that constitute major public health problems. The evidence for familial aggregation of both T2D and obesity is substantial. To date, more than 150 genetic loci are associated with the development of monogenic, syndromic, or multifactorial forms of T2D or obesity. However, the proportion of overall trait variance explained by these associated loci is modest (~5-10% for T2D, ~2% for body mass index (BMI)). Some of the familial aggregation not attributable to known genetic variation, as well as many of the effects of environmental exposures, may reflect epigenetic processes. In this review, we discuss the evidence concerning the genetic contribution to individual risk of T2D and obesity, and explore the potential role of epigenetic mechanisms. We also explain how genetics, epigenetics, and environment are likely to interact to define the individual risk of disease.
DOI: 10.1056/nejm199005243222101
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