Article
Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene.
Human molecular genetics - 1 Aug 2007
Stutzmann Fanny, Vatin Vincent, Cauchi Stéphane, Morandi Anita, Jouret Béatrice, Landt Olfert, Tounian Patrick, Levy-Marchal Claire, Buzzetti Raffaella, Pinelli Leonardo, Balkau Beverley, Horber Fritz, Bougnères Pierre, Froguel Philippe, Meyre David
Abstract excerpt
The melanocortin-4 receptor (MC4R) gene pathogenic mutations are the most prevalent forms of monogenic obesity, responsible for approximately 2% of obesity cases, but its role in common obesity is still elusive. We analyzed the contribution of non-synonymous mutations V103I (rs2229616, c.307G > A) and I251L (no rs, c.751A > C) to obesity in 16 797 individuals of European origin from nine independent case-control,...
Topics
- Adolescent
- Adult
- Body Mass Index
- Case-Control Studies
- Child
- Cohort Studies
- Female