Recent genome-wide association studies reported the association of polymorphic alleles of PHACTR1 (rs9349379 (G)), CDDKN2B-AS1 (rs2891168 (G)), COL4A2 (rs11838776 (A)) and SOD2 (rs4880 (T)) with increased risk of coronary artery disease (CAD). The aim of our study was to assess the association of genetic variants with risk of CAD and its severity and in Southeast Iranian population. This study was examined in 250 CAD-suspected patients (mean age 53.49 ± 6.9 years) and 250 healthy individuals (mean age 52.96 ± 5.9 years). The Taqman SNP genotyping assay was used for genotyping of rs9349379 and rs2891168 variants. Tetra-primer Amplified refractory mutation system-PCR (Tetra-primer ARMS-PCR) was employed for rs11838776 and rs4880. Multivariate logistic regression analyses indicated that the G allele of rs9349379 and rs2891168 were associated with increased risk of CAD. The GG homozygous genotype of rs9349379 and rs2891168 had also been associated with risk of CAD. Additionally, the AG genotype of rs2891168 was associated with CAD. The significance of association of rs2891168 (G, GG, AG) increases with severity of CAD; but the rs9349379 (G, GG) have shown reverse association with severity of CAD. The genetic variants of COL4A2 (rs11838776) and SOD2 (rs4880) reflected no association with CAD in Southeast Iranian population. The findings of this study revealed that the PHACTR1 (rs9349379) and CDKN2B-AS1 (rs2891168) genetic variants might serve as genetic risk factor in CAD.

最近的全基因组关联研究报告了PHACTR1 (rs9349379 (G))、CDDKN2B-AS1 (rs2891168 (G))、COL4A2 (rs11838776 (A)) 和SOD2的多态性等位基因的关联(rs4880 (T)) 与冠状动脉疾病 (CAD) 的风险增加。我们研究的目的是评估遗传变异与 CAD 风险及其严重程度以及伊朗东南部人群的关联。这项研究在 250 名疑似 CAD 患者（平均年龄 53.49 ± 6.9 岁）和 250 名健康个体（平均年龄 52.96 ± 5.9 岁）中进行了检查。Taqman SNP 基因分型测定用于 rs9349379 和 rs2891168 变体的基因分型。rs11838776 和 rs4880 采用四引物扩增的难治突变系统-PCR (Tetra-primer ARMS-PCR)。多变量逻辑回归分析表明，rs9349379 和 rs2891168 的 G 等位基因与 CAD 风险增加相关。rs9349379 和 rs2891168 的 GG 纯合基因型也与 CAD 风险相关。此外，rs2891168的AG基因型与CAD相关。rs2891168 (G, GG, AG) 关联的意义随着 CAD 的严重程度而增加；但 rs9349379 (G, GG) 与 CAD 的严重程度呈负相关。的遗传变异COL4A2 (rs11838776) 和SOD2 (rs4880) 与伊朗东南部人群的 CAD 无关。本研究结果表明，PHACTR1 (rs9349379) 和CDKN2B-AS1 (rs2891168) 基因变异可能是 CAD 的遗传危险因素。