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[常见肥胖类型的遗传背景——从同卵双胞胎研究到肥胖候选基因]

[Genetic background in common forms of obesity - from studies on identical twins to candidate genes of obesity].

作者信息

Bendlová Běla, Lukášová Petra, Vaňková Markéta, Vejražková Daniela, Bradnová Olga, Včelák Josef, Stanická Soňa, Zamrazilová Hana, Aldhoon-Hainerová Irena, Dušátková Lenka, Kunešová Marie, Hainer Vojtěch

出版信息

Cas Lek Cesk. 2014;153(4):193-9.

Abstract

Common obesity is a result of interaction between genes and environmental/lifestyle factors, with heritability estimates 40-70%. Not only the susceptibility to obesity but also the success of weight management depends on the genetic background of each individual. This paper summarizes the up-to-date knowledge on genetic causes of common obesities. Introduction of genome-wide association studies (GWAS) led to an identification of a total of 32 variants associated with obesity/BMI and 14 with body fat distribution. Further, a great progress in revealing the mechanisms regulating the energy balance was also noted. However, the proportion of explained variance for BMI is still low, suggesting other mechanisms such as gene-gene and gene-environment interactions, rare gene variants, copy number variants polymorphisms, or epigenetic modifications and microRNAs regulating gene transcription. In summary, we present results of our studies on obesity risk variants in Czech adults, children and adolescents including those evaluating the influence of selected gene variants on the outcomes of weight management.

摘要

普通肥胖是基因与环境/生活方式因素相互作用的结果,遗传度估计为40%-70%。不仅肥胖易感性,而且体重管理的成效均取决于个体的遗传背景。本文总结了普通肥胖遗传病因的最新知识。全基因组关联研究(GWAS)的引入使得共鉴定出32个与肥胖/体重指数相关的变异以及14个与体脂分布相关的变异。此外,在揭示调节能量平衡的机制方面也取得了重大进展。然而,体重指数可解释变异的比例仍然较低,这表明还存在其他机制,如基因-基因和基因-环境相互作用、罕见基因变异、拷贝数变异多态性,或调节基因转录的表观遗传修饰和微小RNA。总之,我们展示了我们对捷克成年人、儿童和青少年肥胖风险变异的研究结果,包括那些评估特定基因变异对体重管理结果影响的研究。

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