Title
Monogenic and complex forms of obesity : insights from genetics reveal the leptin-melanocortin signaling pathway as a common playerMonogenic and complex forms of obesity : insights from genetics reveal the leptin-melanocortin signaling pathway as a common player
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Research group
Laboratory Experimental Medicine and Pediatrics (LEMP)
Medical genetics of obesity and skeletal disorders (MGENOS)
Publication type
article
Publication
Boca Raton, Fla,
Subject
Biology
Human medicine
Engineering sciences. Technology
Source (journal)
Critical reviews in eukaryotic gene expression. - Boca Raton, Fla
Volume/pages
22(2012):4, p. 325-343
ISSN
1045-4403
ISI
000313934200006
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
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.
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