| Title: |
Contribution of heterozygous PCSK1variants to obesity and implications for precision medicine: a case-control study |
| Authors: |
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 |
| 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. |
| Database: |
Supplemental Index |
