There is a strong genetic predisposition to cardiovascular disease (CVD). Loss-of-function variants of the angiopoietin-like 3 (ANGPTL3) gene have been reported to be associated with several lipid-related CVD risk factors that include serum high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglycerides (TG) level, and total cholesterol (TC). We aimed to determine the association of two genetic variants, rs1748195 and rs11207997, of the ANGPTL3 locus and CVD risk in the Mashhad Stroke and Heart Atherosclerotic Disorders (MASHAD) cohort study. The participants were 1002 individuals in the MASHAD cohort, with or without CVD, during the 6 years of follow-up. The subjects were categorized into two groups according to serum HDL concentration. DNA was extracted by the routine salting-out method, and genotyping of rs1748195 and rs11207997 variants of the ANGPTL3 gene was performed using the ARMS PCR method. Univariate and multivariate statistical analysis was used to assess the two gene variants’ association with incident CVD and baseline lipid profile. There was a significant relationship between rs1748195 GG genotype and CVD risk in the individuals with a normal serum HDL-C. There was a significant association between the CT genotype of the rs11207997 polymorphism and CVD risk in individuals with a low serum HDL-C. Furthermore, carriers of the GG genotype of the rs1748195 and CT genotype of rs11207997 variant of ANGPTL3 had a higher risk of developing CVD disease. We have shown that the 1748195(GG) and 11207997(CT) gene variants of the ANGPTL3 locus are associated with an increased risk of CVD in an Iranian population sample.

心血管疾病（CVD）有很强的遗传倾向。据报道，血管生成素样 3 (ANGPTL3) 基因的功能丧失变异体与几种脂质相关的 CVD 危险因素有关，包括血清高密度脂蛋白胆固醇 (HDL-C)、低密度脂蛋白胆固醇。 LDL-C)、甘油三酯 (TG) 水平和总胆固醇 (TC)。我们旨在确定 Mashhad 中风和心脏动脉粥样硬化疾病 (MASHAD) 队列研究中 ANGPTL3 基因座和 CVD 风险的两个遗传变异体 rs1748195 和 rs11207997 的关联。在 6 年的随访期间，参与者是 MASHAD 队列中的 1002 人，有或没有 CVD。根据血清HDL浓度将受试者分为两组。采用常规盐析法提取DNA，使用 ARMS PCR 方法对 ANGPTL3 基因的 rs1748195 和 rs11207997 变体进行基因分型。单变量和多变量统计分析用于评估两种基因变异与突发 CVD 和基线血脂谱的关联。在血清 HDL-C 正常的个体中，rs1748195 GG 基因型与 CVD 风险之间存在显着相关性。rs11207997 多态性的 CT 基因型与低血清 HDL-C 个体的 CVD 风险之间存在显着关联。此外， ANGPTL3 rs1748195 的 GG 基因型和 rs11207997 变体的 CT 基因型的携带者发生 CVD 疾病的风险更高。我们已经表明，ANGPTL3 基因座的 1748195(GG) 和 11207997(CT) 基因变异与伊朗人口样本中 CVD 风险的增加有关。