Department of Molecular Medicine and Medical Biotechnology, Federico II University, Via G. Salvatore 486, 80145, Naples, Italy.
Biotecnologie Avanzate, CEINGE, Via G. Salvatore 486, 80145, Naples, Italy.
J Cardiovasc Transl Res. 2017 Dec;10(5-6):455-458. doi: 10.1007/s12265-017-9758-9. Epub 2017 Jun 21.
In this study, we verify the association between the rs1333049 single nucleotide polymorphism (9p21.3) within CDKN2A-CDKN2B and coronary artery disease (CAD) in an Italian population. We replicated rs1333049_G allele association with a significantly reduced risk of CAD (OR = 0.816; 95% confidence interval [0.705-0.945]; p = 0.0065) in 711 CAD patients and 755 normal healthy individuals. This effect is maintained even stratifying patients by gender and by risk factors. A significant association was found with age of CAD onset. Interestingly, we found a protective trend of association between the rs1333049_G allele and peripheral artery disease, a progressive atherosclerotic condition in which plaque builds up in the arteries that carry blood to the head, organs, and limbs (OR = 0.724; 95% CI [0.520-1.007]; p = 0.054). No genotype-phenotype association was found with more severe CAD clinical parameters. If certain genetic factors predispose individuals to adverse outcomes, the knowledge of a patient's genotype may influence clinical management.
在这项研究中，我们验证了 CDKN2A-CDKN2B 内的 rs1333049 单核苷酸多态性（9p21.3）与意大利人群冠心病（CAD）之间的关联。我们复制了 rs1333049_G 等位基因与 CAD 风险显著降低的关联（OR=0.816；95%置信区间[0.705-0.945]；p=0.0065），在 711 例 CAD 患者和 755 例正常健康个体中。即使按性别和危险因素分层，这种效应仍然存在。与 CAD 发病年龄存在显著相关性。有趣的是，我们发现 rs1333049_G 等位基因与外周动脉疾病之间存在保护性关联趋势，外周动脉疾病是一种进行性动脉粥样硬化疾病，斑块在携带血液到头部、器官和四肢的动脉中积聚（OR=0.724；95%CI[0.520-1.007]；p=0.054）。在更严重的 CAD 临床参数方面，未发现基因型-表型相关性。如果某些遗传因素使个体易发生不良后果，那么了解患者的基因型可能会影响临床管理。
