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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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