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To determine whether sex differences affect the association between genetic polymorphisms and coronary artery disease (CAD) in the Chinese Han population, we conducted a study comparing the frequency of  SH2B3  and  SMARCA4  variants in 456 CAD patients (291 men, 165 women) and 685 age-matched controls (385 men, 300 women). Ten single nucleotide polymorphisms (SNPs) in  SH2B3  and  SMARCA4  were genotyped using MassARRAY technology. Allelic and genotypic models and haplotype frequencies were compared between groups. Logistic regression was used to estimate the CAD risk associated with the genotypes. We found that the “A” alleles in both rs11879293 and rs12232780 of  SMARCA4  were associated with CAD risk in men ( p  = 0.036 and  p  = 0.001, respectively). The genetic model showed that  SH2B3  was associated with CAD susceptibility in both women and men, while  SMARCA4  was associated with reduced odds of CAD in men.  SH2B3  haplotypes were associated with decreased CAD risk in women ( p  = 0.007) and increased CAD risk in men ( p  = 0.047). By providing evidence for the sex-related association between  SH2B3  and  SMARCA4  gene variants and CAD susceptibility in the Chinese Han population, this study may help define useful diagnostic and preventive markers for these patients.

Sex-specific association of SH2B3 and SMARCA4 polymorphisms with coronary artery disease susceptibility