A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity.

Date publication

février 2015

Journal

International journal of obesity (2005)

Auteurs

Membres identifiés du Cancéropôle Est :
Pr MEYRE David

Tous les auteurs :
Philippe J, Stijnen P, Meyre D, De Graeve F, Thuillier D, Delplanque J, Gyapay G, Sand O, Creemers JW, Froguel P, Bonnefond A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/24890885

Résumé

A significant proportion of severe familial forms of obesity remain genetically elusive. Taking advantage of our unique cohort of multigenerational obese families, we aimed to assess the contribution of rare mutations in 29 common obesity-associated genes to familial obesity, and to evaluate in these families the putative presence of nine known monogenic forms of obesity.

Mots clés

Codon, Nonsense, genetics, Female, France, epidemiology, Genetic Predisposition to Disease, Genotype, Humans, Male, Molecular Sequence Data, Obesity, epidemiology, Pedigree, Proprotein Convertase 1, genetics, White People, genetics

Référence

Int J Obes (Lond). 2015 02;39(2):295-302