Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.
Eur Rev Med Pharmacol Sci. 2023 Jul;27(14):6671-6681. doi: 10.26355/eurrev_202307_33137.
We aim to investigate the relationship between genetic variation and biological function on a genomic scale, focusing on identifying genes responsible for complex diseases using single nucleotide polymorphisms. Specifically, the study explores the association between the rs2383206 gene located on chromosome 9p21.3 and the development of coronary artery disease (CAD) in a specific Saudi population.
This case-control study was conducted between September 2013 and May 2015 at King Abdullah Medical City (KAMC) and Al-Noor Specialist Hospital targeting the Saudi Population residing in the western region of Saudi Arabia. The study enrolled 315 cases with documented CAD and 205 controls with normal coronary arteries on coronary angiography. Genomic DNA was extracted from peripheral blood samples of both groups, and genotyping of rs2383206 was performed using the tetra-primer amplification-refractory mutation system-polymerase chain reaction (ARMS-PCR) method.
In this study, the prevalence of the GG genotype in rs2383206 was found to be higher in patients with CAD than in controls, with an odds ratio of 1.997 [95% confidence interval (CI): 1.176-3.394, p = 0.007]. Additionally, individuals with the GG genotype who had sedentary lifestyles, hyperlipidemia, and smoked were found to be at a higher risk for developing CAD (p = 0.003, 0.009, and 0.003, respectively). The G allele also increased the risk of CAD with an odds ratio of 1.413 (95% CI: 1.099-1.817; p = 0.004).
In conclusion, this study demonstrated a significant association between the rs2383206 variant located on chromosome 9p21 and the development of CAD. The findings of this study provide valuable insights into the genetic susceptibility to CAD and highlight the potential of this variant as a target for future functional studies.
我们旨在从基因组规模上研究遗传变异与生物学功能之间的关系，重点是利用单核苷酸多态性鉴定与复杂疾病相关的基因。具体而言，本研究探讨了位于 9p21.3 染色体上的 rs2383206 基因与特定沙特人群中冠状动脉疾病（CAD）发生之间的关联。
本病例对照研究于 2013 年 9 月至 2015 年 5 月在阿卜杜拉国王医疗城（KAMC）和 Al-Noor 专科医院进行，以沙特阿拉伯西部地区居住的沙特人群为研究对象。该研究纳入了 315 例经证实的 CAD 患者和 205 例冠状动脉造影正常的对照组。从两组外周血样中提取基因组 DNA，并使用四引物扩增受阻突变系统-聚合酶链反应（ARMS-PCR）方法对 rs2383206 进行基因分型。
本研究发现，rs2383206 中的 GG 基因型在 CAD 患者中的发生率高于对照组，比值比为 1.997（95%置信区间[CI]：1.176-3.394，p=0.007）。此外，具有 GG 基因型且生活方式久坐、血脂异常和吸烟的个体发生 CAD 的风险更高（p=0.003、0.009 和 0.003 分别）。G 等位基因也使 CAD 的发病风险增加了 1.413 倍（95%CI：1.099-1.817；p=0.004）。
总之，本研究表明位于 9p21 上的 rs2383206 变异与 CAD 的发生之间存在显著关联。本研究结果为 CAD 的遗传易感性提供了有价值的见解，并强调了该变异作为未来功能研究的潜在目标。
