最近的全基因组关联研究报道了PHACTR1多态性等位基因的关联（rs9349379（G）），CDDKN2B-AS1(rs2891168(G)),COL4A2（rs11838776（A））和SOD2（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伊朗东南部人群中遗传变异与CAD风险及其严重程度的关联。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。TaqmanSNP基因分型测定用于rs9349379和rs2891168变体的基因分型。四引物扩增的难治性突变系统-PCR(四引物ARMS-PCR)用于rs11838776和rs4880。多因素logistic回归分析显示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)随CAD的严重程度而增加；但rs9349379(G，GG）已显示出与CAD严重程度的反向关联。COL4A2（rs11838776）和SOD2（rs4880）的遗传变异与伊朗东南部人群的CAD无关。这项研究的结果表明，PHACTR1（rs9349379）和CDKN2B-AS1（rs2891168）遗传变异可能是CAD的遗传危险因素。
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.
