Objective: To determine whether the single nucleotide polymorphism (SNP) on chromosome 12q24.31(rs2259816) is associated with coronary artery disease (CAD) in Han population of southwest China.
Methods: A case-control association study with 592 unrelated patients with coronary artery disease and 463 normal controls from Chinese Han population was performed. Genotype for the SNP on chromosome 12q24.31 (rs2259816) was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
Results: The genotypes of AA, AC, CC were both detected in the coronary artery disease group and the control group. The frequencies of A allele were 49.5% in case group and 43.8% in control group, showing statistically significant difference(OR=1.129, 95%CI:1.029-1.239, P=0.010).
Conclusion: The replication study showed that the genetic polymorphism in rs2259816 is associated with coronary artery disease in Han population of southwest China.