Schwenk Robert Wolfgang, Vogel Heike, Schürmann Annette
Mol Metab. 2013 Sep 25;2(4):337-47. doi: 10.1016/j.molmet.2013.09.002.
Obesity is characterized as an excess accumulation of body fat resulting from a positive energy balance. It is the major risk factor for type 2 diabetes (T2D). The evidence for familial aggregation of obesity and its associated metabolic diseases is substantial. To date, about 150 genetic loci identified in genome-wide association studies (GWAS) are linked with obesity and T2D, each accounting for only a small proportion of the predicted heritability. However, the percentage of overall trait variance explained by these associated loci is modest (~5-10% for T2D, ~2% for BMI). The lack of powerful genetic associations suggests that heritability is not entirely attributable to gene variations. Some of the familial aggregation as well as many of the effects of environmental exposures, may reflect epigenetic processes. This review summarizes our current knowledge on the genetic basis to individual risk of obesity and T2D, and explores the potential role of epigenetic contribution.
肥胖的特征是由于能量正平衡导致身体脂肪过度积累。它是2型糖尿病(T2D)的主要危险因素。肥胖及其相关代谢疾病的家族聚集证据确凿。迄今为止,全基因组关联研究(GWAS)中确定的约150个基因位点与肥胖和T2D相关,每个位点仅占预测遗传力的一小部分。然而,这些相关位点所解释的总体性状变异百分比适中(T2D约为5-10%,BMI约为2%)。缺乏强大的基因关联表明遗传力并不完全归因于基因变异。一些家族聚集以及许多环境暴露的影响,可能反映了表观遗传过程。本综述总结了我们目前关于肥胖和T2D个体风险的遗传基础的知识,并探讨了表观遗传贡献的潜在作用。