Article
Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.
American journal of human genetics - 1 Mar 2004
Geller Frank, Reichwald Kathrin, Dempfle Astrid, Illig Thomas, Vollmert Caren, Herpertz Stephan, Siffert Winfried, Platzer Matthias, Hess Claudia, Gudermann Thomas, Biebermann Heike, Wichmann H-Erich, Schäfer Helmut, Hinney Anke, Hebebrand Johannes
Abstract excerpt
Several rare mutations in the melanocortin-4 receptor gene (MC4R) predispose to obesity. For the most common missense variant V103I (rs2229616), however, the previously reported similar carrier frequencies in obese and nonobese individuals are in line with in vitro studies, which have not shown a functional implication of this variant. In the present study, we initially performed a transmission/disequilibrium...
Topics
- Animals
- COS Cells
- Genetic Variation
- Humans
- Mutation
- Obesity
- Polymorphism, Single Nucleotide