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基因与人类新陈代谢的下丘脑调控

Genes and the hypothalamic control of metabolism in humans.

作者信息

Hinney Anke, Volckmar Anna-Lena, Antel Jochen

机构信息

Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Universitätsklinikum Essen, Essen, Germany.

出版信息

Best Pract Res Clin Endocrinol Metab. 2014 Oct;28(5):635-47. doi: 10.1016/j.beem.2014.04.007. Epub 2014 Apr 26.

DOI:10.1016/j.beem.2014.04.007
PMID:25256760
Abstract

Heritability of obesity and body weight variation is high. Molecular genetic studies have led to the identification of mutations in a few genes, with a major effect on obesity (major genes and monogenic forms). Analyses of these genes have helped to unravel important pathways and have created a more profound understanding of body weight regulation. For most individuals, a polygenic basis is relevant for the genetic predisposition to obesity. Small effect sizes are conveyed by the polygenic variants. Hence, only if a number of these variants is harboured, a sizeable phenotypic effect is detectable. Most, if not all, of the genes relevant to weight regulation are expressed in the hypothalamus. This underscores the major role of this region of the brain in body weight regulation.

摘要

肥胖和体重变化的遗传度很高。分子遗传学研究已导致鉴定出一些对肥胖有主要影响的基因中的突变(主要基因和单基因形式)。对这些基因的分析有助于揭示重要途径,并对体重调节有更深刻的理解。对于大多数个体而言,多基因基础与肥胖的遗传易感性相关。多基因变异具有较小的效应大小。因此,只有当携带许多这些变异时,才能检测到可观的表型效应。大多数(如果不是全部)与体重调节相关的基因在下丘脑中表达。这突出了大脑这个区域在体重调节中的主要作用。

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Genes and the hypothalamic control of metabolism in humans.基因与人类新陈代谢的下丘脑调控
Best Pract Res Clin Endocrinol Metab. 2014 Oct;28(5):635-47. doi: 10.1016/j.beem.2014.04.007. Epub 2014 Apr 26.
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Genetic variation in the hypothalamic pathways and its role on obesity.下丘脑通路的遗传变异及其在肥胖中的作用。
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