Article
Heterozygous mutations causing partial prohormone convertase 1 deficiency contribute to human obesity.
Diabetes - 1 Feb 2012
Creemers John W M, Choquet Hélène, Stijnen Pieter, Vatin Vincent, Pigeyre Marie, Beckers Sigri, Meulemans Sandra, Than Manuel E, Yengo Loïc, Tauber Maithé, Balkau Beverley, Elliott Paul, Jarvelin Marjo-Riitta, Van Hul Wim, Van Gaal Luc, Horber Fritz, Pattou François, Froguel Philippe, Meyre David
Abstract excerpt
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....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.