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Matrix Metalloproteinase Polymorphisms in Patients with Floppy Mitral Valve/Mitral Valve Prolapse (FMV/MVP) and

Sarah M Lima1, Antonios A Pitsis, Timotheos G Kelpis

  • 1Division of Cardiovascular Medicine, Department of Medicine, The Ohio State University, Columbus, OH, USA.

Cardiology
|July 28, 2017
PubMed
Abstract

Insights

Certain matrix metalloproteinase-2 (MMP2) gene variations are more common in patients with floppy mitral valve (FMV)/mitral valve prolapse (MVP). These findings suggest a genetic link to collagen abnormalities in FMV/MVP development.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Biochemistry

Background:

  • Collagen abnormalities are suspected in floppy mitral valve (FMV)/mitral valve prolapse (MVP).
  • Genetic factors influencing collagen metabolism in FMV/MVP remain unclear.
  • This study investigates specific gene polymorphisms related to collagen turnover.

Purpose of the Study:

  • To determine if polymorphisms in MMP2 and TGFβ genes are more frequent in patients with FMV/MVP.
  • To explore the genetic basis of collagen turnover abnormalities in FMV/MVP.

Main Methods:

  • Genotyping of single nucleotide polymorphisms (SNPs) in MMP2 (rs2285053, rs243865) and TGFβ (rs1800469, rs900).
  • Comparison of SNP frequencies between 98 FMV/MVP patients with severe mitral regurgitation and 99 controls.

Main Results:

  • MMP2 rs243865 was significantly associated with FMV/MVP (OR 2.07, p=0.006).
  • MMP2 rs228503 showed significant association with the FMV/MVP syndrome (OR 2.41, p=0.032).

Conclusions:

  • Specific MMP2 polymorphisms are more prevalent in FMV/MVP patients.
  • Genetic predisposition affecting collagen turnover may contribute to FMV/MVP pathogenesis.
Keywords:
Floppy mitral valveMetalloproteinaseMitral valve prolapsePolymorphismTransforming growth factor-β

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