Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.

  title={Melanocortin-4 receptor gene variant I103 is negatively associated with obesity.},
  author={Frank Geller and Kathrin Reichwald and Astrid Dempfle and Thomas Illig and Caren Vollmert and Stephan Herpertz and Winfried Siffert and Matthias Platzer and C. Hess and Thomas Gudermann and Heike Biebermann and H. M. Wichmann and Helmut Sch{\"a}fer and Anke Hinney and Johannes Hebebrand},
  journal={American journal of human genetics},
  volume={74 3},
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 test on 520 trios with obesity, and we observed a lower transmission rate of the I103… CONTINUE READING


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