Abstrakt
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 × 10-8 and P = 2.31 × 10-12, respectively). Functional analysis showed a significant impairment of the N221D-mutant PC1/3 protein catalytic activity.
Originalsprog | Engelsk |
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Sider (fra-til) | 943-945 |
Antal sider | 3 |
Tidsskrift | Nature Genetics |
Vol/bind | 40 |
Udgave nummer | 8 |
DOI | |
Status | Udgivet - 1 aug. 2008 |