Background: Coronary artery disease (CAD) is a complex metabolic disorder in which lifestyle and genetic factors are known to play key roles in pathogenesis. The paraoxonase 1 (PON1) enzyme has a defensive effect against CAD progression, as it safeguards low-density lipoproteins (LDLs) from oxidative modifications. The most extensively studied genetic variants in the PON1 gene are Q192R and L55M, which have been related with LDL antioxidative activity and risk of CAD. Objective: The present case-control study intended to examine the Q192R and L55M polymorphisms and their association with the risk of CAD patients in north Indians. Methods: A total of 872 subjects (412 CAD patients and 460 controls) were recruited from north India. The PON1 gene was amplified and genotypes were studies using PCR-RFLP. χ2 analysis was performed to compare genotype/allele frequencies in patients and controls. Results: The present study indicated abdominal obesity, elevated body mass index, and dyslipidemia with increased levels of total cholesterol and triglycerides as well as reduced high-density lipoprotein cholesterol in CAD subjects compared to healthy controls (p < 0.05). Logistic regression analysis of the data revealed an association of the RR genotype of the Q192R polymorphism with an about 2-fold elevated risk of CAD (OR = 2.23, 95% CI = 1.47–3.37, p = 0.0001). Contrariwise, the L55M polymorphism did not show significant association with CAD (OR = 1.81, 95% CI = 0.66–4.95, p = 0.326). Conclusions: The Q192R polymorphism in the PON1 gene may be a susceptibility gene associated with increased risk of CAD in an Asian Indian population.

中文翻译：

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对氧磷酶 1 基因多态性（Q192R 和 L55M）与亚洲印度人的冠状动脉疾病易感性相关

背景：冠状动脉疾病 (CAD) 是一种复杂的代谢紊乱，已知生活方式和遗传因素在发病机制中起关键作用。对氧磷酶 1 (PON1) 酶对 CAD 进展具有防御作用，因为它可以保护低密度脂蛋白 (LDL) 免受氧化修饰。PON1 基因中研究最广泛的遗传变异是 Q192R 和 L55M，它们与 LDL 抗氧化活性和 CAD 风险有关。目的：本病例对照研究旨在检查 Q192R 和 L55M 多态性及其与北印度人 CAD 患者风险的关联。方法：从印度北部招募了总共 872 名受试者（412 名 CAD 患者和 460 名对照者）。使用 PCR-RFLP 扩增 PON1 基因并研究基因型。进行χ2 分析以比较患者和对照的基因型/等位基因频率。结果：本研究表明，与健康对照相比，CAD 受试者的腹部肥胖、体重指数升高和血脂异常，总胆固醇和甘油三酯水平升高，高密度脂蛋白胆固醇降低（p < 0.05）。数据的逻辑回归分析显示，Q192R 多态性的 RR 基因型与 CAD 风险增加约 2 倍有关（OR = 2.23，95% CI = 1.47–3.37，p = 0.0001）。相反，L55M 多态性与 CAD 没有显着关联（OR = 1.81，95% CI = 0.66–4.95，p = 0.326）。结论： PON1 基因中的 Q192R 多态性可能是与亚洲印度人群 CAD 风险增加相关的易感基因。