학술논문
Heterozygous pathogenic variants in POMCare not responsible for monogenic obesity: Implication for MC4R agonist use
Document Type
Article
Author
Le Collen, Lauriane; Delemer, Brigitte; Poitou, Christine; Vaxillaire, Martine; Toussaint, Bénédicte; Dechaume, Aurélie; Badreddine, Alaa; Boissel, Mathilde; Derhourhi, Mehdi; Clément, Karine; Petit, Jean M.; Mau-Them, Frédéric Tran; Bruel, Ange-Line; Thauvin-Robinet, Christel; Saveanu, Alexandru; Cherifi, Blandine Gatta; Le Beyec-Le Bihan, Johanne; Froguel, Philippe; Bonnefond, Amélie
Source
Genetics in Medicine; July 2023, Vol. 25 Issue: 7
Subject
Language
ISSN
10983600; 15300366
Abstract
Recessive deficiency of proopiomelanocortin (POMC) causes childhood-onset severe obesity. Cases can now benefit from the melanocortin 4 receptor agonist setmelanotide. Furthermore, a phase 3 clinical trial is evaluating setmelanotide in heterozygotes for POMC. We performed a large-scale genetic analysis to assess the effect of heterozygous, pathogenic POMC variants on obesity.