Genetic strategies to understand physiological pathways regulating body weight

被引：5

作者：

Farooqi, Sadaf ^{[1
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Wellcome Trust MRC Inst Metab Sci, Metab Res Labs, Cambridge CB2 2QQ, England

来源：

MAMMALIAN GENOME | 2014年 / 25卷 / 9-10期

关键词：

CONGENITAL LEPTIN DEFICIENCY; GENOME-WIDE ASSOCIATION; BARDET-BIEDL-SYNDROME; EARLY-ONSET OBESITY; FTO GENE; CHILDHOOD OBESITY; MISSENSE MUTATION; COMMON VARIANT; MASS INDEX; FAT MASS;

D O I：

10.1007/s00335-014-9541-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Body weight is a highly heritable trait across species. In humans, genetic variation plays a major role in determining the inter-individual differences in susceptibility or resistance to environmental factors which influence energy intake and expenditure. In this review, I discuss how genetic studies have contributed to our understanding of the central pathways that govern energy homeostasis. The study of individuals harboring highly penetrant genetic variants that disrupt the leptin-melanocortin pathway has informed our understanding of the physiological pathways involved in mammalian energy homeostasis.

引用

页码：377 / 383

页数：7

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