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MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy

Ping Wang1, Yubao Zou, Chunyan Fu

  • 1Sino-German Laboratory for Molecular Medicine, Department of Cardiology, FuWai Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Biochemical and Biophysical Research Communications
|March 2, 2005
PubMed

Insights

The GG genotype of the MYBPC3 gene may increase the risk of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. This genetic factor is associated with a thicker left ventricular wall in affected individuals.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Hypertrophic cardiomyopathy (HCM) presents with significant clinical variability.
  • Genetic factors are implicated in the pathogenesis and phenotypic expression of HCM.

Purpose of the Study:

  • To investigate the association between MYBPC3 gene polymorphisms and the cardiac hypertrophic phenotype in HCM patients.
  • To determine if specific MYBPC3 genotypes modify the severity of left ventricular hypertrophy.

Main Methods:

  • Genotyping of 226 HCM patients and 226 controls using PCR, restriction enzyme digestion, and sequencing.
  • Analysis of three MYBPC3 polymorphisms, focusing on genotype-phenotype correlations.
  • Statistical analysis, including multiple regression, adjusted for age and sex.

Main Results:

  • The GG genotype at position 18443 in exon 30 of MYBPC3 was significantly associated with a thicker left ventricular wall (25.2±5.9 mm) in HCM patients compared to AA and AG genotypes (19.0±5.0 mm, P<0.001).
  • This association remained significant after adjusting for age and sex.
  • No significant difference in genotype distribution was observed between the patient and control groups.

Conclusions:

  • The GG genotype of MYBPC3 may act as a genetic risk factor influencing the expression of cardiac hypertrophy in HCM.
  • MYBPC3 polymorphism is a potential modifier of the hypertrophic phenotype in hypertrophic cardiomyopathy.

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