Saeed Abdullah, AlShafea Abdullah, Aldaghaies Hussain, Saeed Abdullatif, Alshehri Abdulrahman
Research Unit, Ministry of Health, Abha, Saudi Arabia.
Family Medicine Department, Ministry of Health, Abha, Saudi Arabia.
J Saudi Heart Assoc. 2025 May 18;37(3):1. doi: 10.37616/2212-5043.1436. eCollection 2025.
Myocardial infarction (MI) is one of the leading causes of mortality in Saudi Arabia, with individuals sharing genetic, lifestyle, and environmental risk factors. The present investigation aimed to review the literature on genetic susceptibility to MI among Saudi individuals, with a specific emphasis on genome-wide association studies (GWAS) for coronary artery disease (CAD) and MI. Studies have revealed the relationship between polymorphisms in genes such as proprotein convertase subtilisin/kexin type 9 (PCSK9), cholesteryl ester transfer protein (CETP), and cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1), which are involved in lipid metabolism, inflammation, and endothelial function.
This PROSPERO-registered systematic review and meta-analysis (CRD42024603752) evaluates genetic determinants of myocardial infarction among Saudi adults. Five databases were searched (1989-Oct 2024) according to PRISMA guidelines. Case-control and cohort studies that met the inclusion criteria were analyzed using random-effects models.
Findings suggest that several polymorphic genes are highly associated with MI in Saudi citizens. There is strong evidence indicating that PCSK9, CETP, and CDKN2B-AS1 contribute to susceptibility to MI, though the effect of these polymorphic genes varies. The meta-analysis confirmed that MI is a polygenic disease, and genetic predisposition, in combination with individual lifestyle factors, determines disease progression.
This study establishes that genetic factors significantly contribute to MI in Saudi Arabia. Integrating genetic screening with traditional cardiovascular risk assessments can enhance early intervention strategies. The findings highlight the need for MI prevention programs tailored to specific genotypes in the Saudi population.
心肌梗死（MI）是沙特阿拉伯主要的死亡原因之一，个体存在遗传、生活方式和环境等风险因素。本研究旨在回顾沙特人群中MI遗传易感性的相关文献，特别关注冠状动脉疾病（CAD）和MI的全基因组关联研究（GWAS）。研究揭示了前蛋白转化酶枯草溶菌素/kexin 9型（PCSK9）、胆固醇酯转运蛋白（CETP）和细胞周期蛋白依赖性激酶抑制剂2B反义RNA 1（CDKN2B-AS1）等基因多态性之间的关系，这些基因参与脂质代谢、炎症和内皮功能。
这项在PROSPERO注册的系统评价和荟萃分析（CRD42024603752）评估了沙特成年人心肌梗死的遗传决定因素。根据PRISMA指南检索了五个数据库（1989年 - 2024年10月）。对符合纳入标准的病例对照研究和队列研究采用随机效应模型进行分析。
研究结果表明，几个多态性基因与沙特公民的MI高度相关。有强有力的证据表明，PCSK9、CETP和CDKN2B-AS1导致MI易感性，尽管这些多态性基因的作用各不相同。荟萃分析证实MI是一种多基因疾病，遗传易感性与个体生活方式因素共同决定疾病进展。
本研究证实遗传因素在沙特阿拉伯的MI发病中起重要作用。将基因筛查与传统心血管风险评估相结合可以加强早期干预策略。研究结果凸显了针对沙特人群特定基因型制定MI预防计划的必要性。
