首页|Monogenic and Complex Forms of Obesity: Insights from Genetics Reveal the Leptin-AAelanocortin Signaling Pathway as a Common Player
Monogenic and Complex Forms of Obesity: Insights from Genetics Reveal the Leptin-AAelanocortin Signaling Pathway as a Common Player
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NSTL
The role of genetic factors involved in the etiology of human obesity is beyond question. The identification of the hypothalamic leptin-melanocortin signaling pathway as a critical regulator in energy homeostasis and food intake has been essential for genetic research. In this review, we discuss the involvement of established and novel genes from this pathway in the pathogenesis of obesity. Their roles in monogenic and complex forms of obesity are illustrated by discussing the results of mutation analysis, candidate gene and genome-wide association studies, as well as copy number analysis. While we can conclude from these outcomes that the leptin-melanocortin pathway is of immense importance, there is still a lot of heritability that currently cannot be explained. Future studies implementing genome-wide association studies, genome-wide copy number variant analysis, and whole exome and whole-genome sequencing might aid in finding new variation in the conventional pathways and might reveal new biological pathways implicated in the pathogenesis of obesity.
melanocortinpathwayleptinMC4RMC3RBDNFNUCB2SEMI
Doreen Zegers、Wim Van Hul、Sigri Beckers、Luc F. Van Gaal
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Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
NSTL
