Title: Common nonsynonymous variants in PCSK1 confer risk of obesity
Authors: Benzinou, Michael ×
Creemers, John
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 #
Issue Date: Aug-2008
Series Title: Nature Genetics vol:40 issue:8 pages:943-5
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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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