Common nonsynonymous variants in PCSK1 confer risk of obesity.

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Citation

Benzinou M, Creemers JW, Choquet H, Lobbens S, Dina C, Durand E, Guerardel A, Boutin P, Jouret B, Heude B, Balkau B, Tichet J, Marre M, Potoczna N, Horber F, Le Stunff C, Czernichow S, Sandbaek A, Lauritzen T, Borch-Johnsen K, Andersen G, Kiess W, Korner A, Kovacs P, Jacobson P, Carlsson LM, Walley AJ, Jorgensen T, Hansen T, Pedersen O, Meyre D, Froguel P

Common nonsynonymous variants in PCSK1 confer risk of obesity.

Nat Genet. 2008 Aug;40(8):943-5. doi: 10.1038/ng.177. Epub 2008 Jul 6.

PubMed ID
18604207 [ View in PubMed
]
Abstract

Mutations in PCSK1 cause monogenic obesity. To assess the contribution of PCSK1 to polygenic obesity risk, we genotyped tag SNPs in a total of 13,659 individuals of European ancestry from eight independent case-control or family-based cohorts. The nonsynonymous variants rs6232, encoding N221D, and rs6234-rs6235, encoding the Q665E-S690T pair, were consistently associated with obesity in adults and children (P = 7.27 x 10(-8) and P = 2.31 x 10(-12), respectively). Functional analysis showed a significant impairment of the N221D-mutant PC1/3 protein catalytic activity.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Neuroendocrine convertase 1P29120Details