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Sex-dimorphic gene effects on survival outcomes in people with coronary artery disease

Jennifer R Dungan1,2, Xue Qin3, Simon G Gregory3,4,5

  • 1Division of Healthcare in Adult Populations, School of Nursing, Duke University, Durham, NC 27710, USA.

American Heart Journal Plus : Cardiology Research and Practice
|August 12, 2022
PubMed

Insights

This study identified 20 sex-specific genes linked to mortality risk in coronary artery disease (CAD) patients. These findings highlight genetic factors contributing to sex differences in CAD mortality, paving the way for personalized risk assessment.

Area of Science:

  • Genetics
  • Cardiovascular Disease
  • Mortality Research

Background:

  • Ischemic coronary heart disease (IHD) is a leading global cause of death.
  • Genetic variations are implicated in sex-based differences in IHD events and mortality.
  • Coronary artery disease (CAD) patients exhibit differential mortality risks.

Purpose of the Study:

  • To identify sex-specific candidate genes associated with all-cause mortality in individuals diagnosed with CAD.
  • To explore the genetic underpinnings of sex differences in mortality risk among CAD patients.

Main Methods:

  • Conducted a sex-stratified genome-wide association study (GWAS) on European ancestry CAD patients (510 males, 174 females).
  • Analyzed genotype data for 785,945 autosomal SNPs using an additive inheritance model.
  • Estimated all-cause mortality risk using Cox regression over an 11-year follow-up, adjusting for age and genomic ancestry.

Main Results:

  • Identified 8 significant SNPs in males and 15 in females associated with all-cause mortality (p ≤ 1 × 10⁻⁶).
  • Discovered distinct sex-specific candidate genes, including EMP2/TEKT5 and KCNJ6 in males, and RAP1GAP2, PRKD1, PDE9A, and LPGAT1 in females.
  • Reported 20 sex-specific candidate genes with suggestive associations with mortality in CAD subjects.

Conclusions:

  • The study identified 20 sex-specific candidate genes associated with all-cause mortality in CAD patients.
  • Findings provide evidence for sex-associated genetic factors influencing differential mortality risk in CAD.
  • Further replication and meta-analyses in larger, diverse cohorts are recommended to strengthen these findings.
Abstract

Keywords:
Coronary artery diseaseGenome-wide association studySex differencesSex dimorphismSurvival analysis

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