Mitral Valve-Seq

PorteursJean-Jacques SchottAffiliation porteursInserm-Institut du Thorax Nantes

A sequencing-based genome-wide association study on Mitral Valve Disease

Mitral valve prolapse (MVP) is the most frequent form of degenerative mitral valve disease. Familial studies focusing on non-syndromic MVP identified FLNA and DCHS1, encoding proteins regulating cytoskeleton organization. We have recently discovered by GWAS 6 loci associated to MVP, including in particular the focal adhesion protein tensin1, also involved in cytoskeleton organization (Dina, Nat Genet. 2015). Here we plan to extend our study by sequencing the whole genomes of 300 MVP cases (funding requested for 150 cases).This extensive survey will allow interrogating the whole spectrum of alleles with frequencies down to 0.1%.