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J. Cardiovasc. Dev. Dis. 2015, 2(3), 176-189; doi:10.3390/jcdd2030176

Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse

1
Paris Cardiovascular Research Center, INSERM UMR970, 56 rue Leblanc, Paris F-75015, France
2
Paris Descartes University, Sorbonne Paris Cité, 12 rue de l'école de medicine, Paris F-75006, France
3
INSERM UMR1087, CNRS UMR 6291, Institut du Thorax, 8 Quai Moncousu, Nantes F-44007, France
4
Centre Hospitalier Universitaire (CHU) Nantes, Université de Nantes, 8 Quai Moncousu, Nantes F-44007, France
5
Equipe de Recherche en Epidémiologie Nutritionnelle (EREN), Centre d'Epidémiologie et Statistiques Sorbonne Paris Cité, Inserm (U1153), Inra (U1125), Cnam, Université Paris 13, COMUE Sorbonne Paris Cité, Bobigny F-93017, France
6
Department of Cardiology, Hôpital Européen Georges Pompidou, Assistance publique-Hôpitaux de Paris (AP-HP), 20 rue Leblanc, Paris F-75015, France
7
Department of genetics, Hôpital Européen Georges Pompidou, Assistance publique-Hôpitaux de Paris (AP-HP), 20 rue Leblanc, Paris F-75015, France
*
Author to whom correspondence should be addressed.
Academic Editors: Russell Norris and Cheryl L. Maslen
Received: 3 June 2015 / Revised: 30 June 2015 / Accepted: 3 July 2015 / Published: 10 July 2015
(This article belongs to the Special Issue Genetics and Cardiovascular Development and Disease)
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Abstract

Non-syndromic mitral valve prolapse (MVP) is a common degenerative valvulopathy, predisposing to arrhythmia and sudden death. The etiology of MVP is suspected to be under genetic control, as supported by familial cases and its manifestation in genetic syndrome (e.g., Marfan syndrome). One candidate etiological mechanism is a perturbation of the extracellular matrix (ECM) remodeling of the valve. To test this hypothesis, we assessed the role of genetic variants in the matrix metalloproteinase 2 gene (MMP2) known to regulate the ECM turnover by direct degradation of proteins and for which transgenic mice develop MVP. Direct sequencing of exons of MMP2 in 47 unrelated patients and segregation analyses in families did not reveal any causative mutation. We studied eight common single nucleotide polymorphisms (TagSNPs), which summarize the genetic information at the MMP2 locus. The association study in two case controls sets (NCases = 1073 and NControls = 1635) provided suggestive evidence for the association of rs1556888 located downstream MMP2 with the risk of MVP, especially in patients with the fibroelastic defiency form. Our study does not support the contribution of MMP2 rare variation in the etiology to MVP in humans, though further genetic and molecular investigation is required to confirm our current suggestive association of one common variant. View Full-Text
Keywords: MMP2; mitral valve prolapse; Single Nucelotide Polymorphism; genetic association MMP2; mitral valve prolapse; Single Nucelotide Polymorphism; genetic association
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Perrocheau, M.; Kiando, S.R.; Vernerey, D.; Dina, C.; Galan, P.; Hagege, A.; Jeunemaitre, X.; Bouatia-Naji, N. Investigation of the Matrix Metalloproteinase-2 Gene in Patients with Non-Syndromic Mitral Valve Prolapse. J. Cardiovasc. Dev. Dis. 2015, 2, 176-189.

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