Genome Research Chair, Department of Biochemistry, College of Science, King Saud University, Riyadh 11451, Kingdom of Saudi Arabia.
College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh 11481, Kingdom of Saudi Arabia.
Mol Med Rep. 2024 Mar;29(3). doi: 10.3892/mmr.2024.13177. Epub 2024 Feb 9.
Cardiovascular disease (CVD) is one of the leading causes of mortality worldwide, and multiple single‑nucleotide polymorphisms of DNA repair genes have been found to be associated with CVD. The aim of the present study was to assess the effects of the genetic variants of RAD51 recombinase (RAD51) and 8‑oxoguanine DNA glycosylase (OGG1) on CVD through genotyping and statistical analysis. Regardless of whether there is a significant association or not, the genotyping data on these two polymorphisms are valuable, because there is limited availability of it in certain populations. A total of 240 blood samples were analyzed and genotyped using TaqMan genotyping; 120 were obtained from cases with a history of CVD, and 120 from cases with no history of CVD. A questionnaire was administered to gather information on age, demographics, sex and clinical features, and confirmation was carried out using medical records. The results of the present study confirmed that the polymorphism rs1052133 in OGG1 had no significant association with CVD. On the other hand, the polymorphism rs1801321 in RAD51 exhibited a significant association with CVD. Collectively, the results of the present study revealed that the polymorphism rs1801321 in RAD51 exhibited a significant association with CVD, however a larger sample size to confirm the present findings, may allow for the early identification of CVD and may aid in the decision‑making process concerning treatments for CVD.
心血管疾病(CVD)是全球主要的死亡原因之一,已经发现多个 DNA 修复基因的单核苷酸多态性与 CVD 相关。本研究旨在通过基因分型和统计分析评估 RAD51 重组酶(RAD51)和 8-氧鸟嘌呤 DNA 糖基化酶(OGG1)的遗传变异对 CVD 的影响。无论是否存在显著关联,这两种多态性的基因分型数据都很有价值,因为在某些人群中,这些数据的可用性有限。共分析和基因分型了 240 个血液样本,使用 TaqMan 基因分型;120 个样本来自有 CVD 病史的病例,120 个样本来自没有 CVD 病史的病例。通过问卷调查收集年龄、人口统计学、性别和临床特征信息,并通过病历进行确认。本研究结果证实,OGG1 中的 rs1052133 多态性与 CVD 无显著关联。另一方面,RAD51 中的 rs1801321 多态性与 CVD 显著相关。综上所述,本研究结果表明,RAD51 中的 rs1801321 多态性与 CVD 显著相关,但需要更大的样本量来确认本研究结果,以便早期识别 CVD,并有助于 CVD 治疗决策。