Contribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications

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TitreContribution of rare coding mutations in CD36 to type 2 diabetes and cardio-metabolic complications
Type de publicationJournal Article
Year of Publication2019
AuteursMeyre D, Andress EJ, Sharma T, Snippe M, Asif H, Maharaj A, Vatin V, Gaget S, Besnard P, Choquet H, Froguel P, Linton KJ
JournalSCIENTIFIC REPORTS
Volume9
Pagination17123
Date PublishedNOV 20
Type of ArticleArticle
ISSN2045-2322
Résumé

{We sequenced coding regions of the cluster of differentiation 36 (CD36) gene in 184 French individuals of European ancestry presenting simultaneously with type 2 diabetes (T2D), arterial hypertension, dyslipidemia, and coronary heart disease. We identified rare missense mutations (p.Pro191Leu/rs143150225 and p.Ala252Val/rs147624636) in two heterozygous cases. The two CD36 mutation carriers had no family history of T2D and no clustering of cardio-metabolic complications. While the p.Pro191Leu mutation was found in 84 heterozygous carriers from five ethnic groups from the genome aggregation database (global frequency: 0.0297%

DOI10.1038/s41598-019-53388-8