Journal article
Heterozygous Mutations Causing Partial Prohormone Convertase 1 Deficiency Contribute to Human Obesity
Abstract
Null mutations in the PCSK1 gene, encoding the proprotein convertase 1/3 (PC1/3), cause recessive monogenic early onset obesity. Frequent coding variants that modestly impair PC1/3 function mildly increase the risk for common obesity. The aim of this study was to determine the contribution of rare functional PCSK1 mutations to obesity. PCSK1 exons were sequenced in 845 nonconsanguineous extremely obese Europeans. Eight novel nonsynonymous PCSK1 …
Authors
Creemers JWM; Choquet H; Stijnen P; Vatin V; Pigeyre M; Beckers S; Meulemans S; Than ME; Yengo L; Tauber M
Journal
Diabetes, Vol. 61, No. 2, pp. 383–390
Publisher
American Diabetes Association
Publication Date
February 1, 2012
DOI
10.2337/db11-0305
ISSN
0012-1797