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Previous studies showed that PHACTR1 and SLC22A3 are involved in coronary vascular development and are key determinants of cardiovascular disease risk. We conducted a case-control study to examine the effect of SLC22A3 and PHACTR1 single nucleotide polymorphisms (SNPs) on CAD risk among 376 male CAD patients and 388 male healthy controls from China. Eleven SLC22A3 and PHACTR1 SNPs were selected and genotyped using Sequenom Mass-ARRAY technology. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression adjusting for age. The rs9381439 minor allele "A" (OR = 0.72; 95% CI = 0.54-0.96; p = 0.024) in an allelic model was associated with reduced CAD risk, as were the rs2048327 "C/C" (OR = 0.60; 95% CI: 0.37-0.97; p = 0.036) and rs1810126 "T/T" (OR = 0.58; 95% CI: 0.36-0.93; p = 0.024) genotypes. Likewise, the rs9349379 "A/G" genotype in a dominant model (p = 0.041), the rs1810126 "T/C" genotype in additive (p = 0.041) and recessive (p = 0.012) models, and the rs2048327 "C/T" genotype in a recessive model were associated with decreased CAD risk (p = 0.016). These results suggest several PHACTR1 and SLC22A3 polymorphisms are associated with decreased CAD risk in the male Chinese Han population.

PHACTR1 and SLC22A3 gene polymorphisms are associated with reduced coronary artery disease risk in the male Chinese Han population