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Identification of Gender-Specific Genetic Variants in Patients With Bicuspid Aortic Valve

Natasha Dargis1, Maxime Lamontagne1, Nathalie Gaudreault1

  • 1Centre de recherche de l'Institut universitaire de cardiologie et de pneumologie de Québec (CRIUCPQ), Quebec City, Quebec, Canada.

The American Journal of Cardiology
|December 29, 2015
PubMed

Insights

Genetic variants in the EGFR gene are associated with bicuspid aortic valve (BAV), a common congenital heart defect. This study also suggests gender-specific genetic factors may influence BAV development.

Area of Science:

  • Cardiovascular Genetics
  • Congenital Heart Disease
  • Genomics

Background:

  • Bicuspid aortic valve (BAV) is the most common congenital heart defect, affecting males disproportionately.
  • BAV often leads to serious valvular and aortic complications.
  • The genetic underpinnings of BAV remain largely unknown.

Purpose of the Study:

  • To identify genetic variants associated with BAV.
  • To investigate potential gender-specific genetic influences on BAV development.

Main Methods:

  • Sequencing of nine candidate genes in 48 BAV patients.
  • Evaluation of variant pathogenicity using the Combined Annotation Dependent Depletion (CAD) framework.
  • Genotyping of 89 variants in 323 BAV cases and 584 controls, with gender-stratified analyses.

Main Results:

  • Identified novel and potentially pathogenic variants, but none showed association with BAV in the case-control cohort.
  • Discovered a significant association between an intronic EGFR variant (rs17290301) and BAV.
  • Revealed distinct genetic variants associated with BAV in men (EGFR, TEX26) and women (NOTCH1, TGFBR2, NKX2-5).

Conclusions:

  • This study establishes the first association between EGFR genetic variants and BAV in humans.
  • Findings support a role for gender-specific genetic polymorphisms in BAV pathogenesis.
  • Further research into the genetic architecture of BAV is warranted.

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