期刊
NATURE GENETICS
卷 40, 期 8, 页码 943-945出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.177
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资金
- Medical Research Council [G0600331] Funding Source: researchfish
- MRC [G0600331] Funding Source: UKRI
- Medical Research Council [G0600331] Funding Source: Medline
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.
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