학술논문
Contribution of heterozygous PCSK1variants to obesity and implications for precision medicine: a case-control study
Document Type
Article
Author
Folon, Lise; Baron, Morgane; Toussaint, Bénédicte; Vaillant, Emmanuel; Boissel, Mathilde; Scherrer, Victoria; Loiselle, Hélène; Leloire, Audrey; Badreddine, Alaa; Balkau, Beverley; Charpentier, Guillaume; Franc, Sylvia; Marre, Michel; Aboulouard, Soulaimane; Salzet, Michel; Canouil, Mickaël; Derhourhi, Mehdi; Froguel, Philippe; Bonnefond, Amélie
Source
The Lancet Diabetes & Endocrinology; March 2023, Vol. 11 Issue: 3 p182-190, 9p
Subject
Language
ISSN
22138587; 22138595
Abstract
Rare biallelic pathogenic mutations in PCSK1(encoding proprotein convertase subtilisin/kexin type 1 [PC1/3]) cause early-onset obesity associated with various endocrinopathies. Setmelanotide has been approved for carriers of these biallelic mutations in the past 3 years. We aimed to perform a large-scale functional genomic study focusing on rare heterozygous variants of PCSK1to decipher their putative impact on obesity risk.