Article
Common nonsynonymous variants in PCSK1 confer risk of obesity.
Nature genetics - 1 Aug 2008
Benzinou Michael, Creemers John W M, Choquet Helene, Lobbens Stephane, Dina Christian, Durand Emmanuelle, Guerardel Audrey, Boutin Philippe, Jouret Beatrice, Heude Barbara, Balkau Beverley, Tichet Jean, Marre Michel, Potoczna Natascha, Horber Fritz, Le Stunff Catherine, Czernichow Sebastien, Sandbaek Annelli, Lauritzen Torsten, Borch-Johnsen Knut, Andersen Gitte, Kiess Wieland, Körner Antje, Kovacs Peter, Jacobson Peter, Carlsson Lena M S, Walley Andrew J, Jørgensen Torben, Hansen Torben, Pedersen Oluf, Meyre David, Froguel Philippe
Abstract excerpt
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 =...
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