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Publication : Genetic association analyses highlight biological pathways underlying mitral valve prolapse.

First Author	Dina C	Year	2015
Journal	Nat Genet	Volume	47
Issue	10	Pages	1206-11
PubMed ID	26301497	Mgi Jnum	J:231945
Mgi Id	MGI:5775527	Doi	10.1038/ng.3383
Citation	Dina C, et al. (2015) Genetic association analyses highlight biological pathways underlying mitral valve prolapse. Nat Genet 47(10):1206-11

abstractText

Nonsyndromic mitral valve prolapse (MVP) is a common degenerative cardiac valvulopathy of unknown etiology that predisposes to mitral regurgitation, heart failure and sudden death. Previous family and pathophysiological studies suggest a complex pattern of inheritance. We performed a meta-analysis of 2 genome-wide association studies in 1,412 MVP cases and 2,439 controls. We identified 6 loci, which we replicated in 1,422 cases and 6,779 controls, and provide functional evidence for candidate genes. We highlight LMCD1 (LIM and cysteine-rich domains 1), which encodes a transcription factor and for which morpholino knockdown of the ortholog in zebrafish resulted in atrioventricular valve regurgitation. A similar zebrafish phenotype was obtained with knockdown of the ortholog of TNS1, which encodes tensin 1, a focal adhesion protein involved in cytoskeleton organization. We also showed expression of tensin 1 during valve morphogenesis and describe enlarged posterior mitral leaflets in Tns1(-/-) mice. This study identifies the first risk loci for MVP and suggests new mechanisms involved in mitral valve regurgitation, the most common indication for mitral valve repair.

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