Association between Q192R Polymorphism of Paraoxonase-1 Gene and Risk of Coronary Artery Disease: A Case-control Study

Abstract

Introduction: Coronary Artery Disease (CAD) is a complex metabolic disorder in which lifestyle and genetic factors are known to play key roles in pathogenesis. Extensive studies have examined the role of Paraoxonase 1 (PON1) polymorphisms as genetic markers of CAD. However, the evidence regarding their role in the aetiology of CAD remains contradictory. Aim: The aim of this study was to determine the genotypic/ allelic frequency of the Q192R polymorphism of the PON1 gene and its association with the risk of CAD. Materials and Methods: A case-control study was conducted at the Department of Biochemistry in collaboration with the Department of Medicine, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar, Punjab, India, from November 2019 to December 2022. A total of 100 participants were divided into two groups: group I (CAD patients) and group II (healthy controls) to investigate the association between the Q192R polymorphism and CAD risk. The genotypic and allelic frequencies of the Q192R polymorphism of the PON1 gene and its association with CAD were determined using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP), followed by 2% agarose gel electrophoresis. The data were statistically analysed using the Chi-square test. Results: There were a total of 50 participants in each group (29 males and 21 females), with a mean age of 47.02±8.79 years in group I and 37.70±7.29 years in group II (p-value<0.001). The present study confirmed that individuals with QR+RR genotype compared to QQ genotype (OR: 2.47; 95% CI: 1.10-5.55; p-value=0.03) of the Q192R polymorphism were associated with an increased risk of CAD. A higher frequency of the RR genotype of the Q192R polymorphism was detected in CAD patients, and it was associated with a 3-fold increased risk of developing CAD (p-value<0.05). However, the difference between QR versus QQ genotypes {Odds Ratio (OR): 2.13; 95% CI: 0.89-5.12, p-value=0.09} was found to be statistically insignificant. Furthermore, a significantly higher frequency of the R allele was observed in CAD patients compared to controls (OR 2.12, 95% CI: 1.18-3.84, p-value=0.01). Conclusion: In conclusion, the Q192R polymorphism of the PON1 gene was associated with an increased risk of CAD in the Punjabi population. The results confirmed that the presence of the R allele was associated with an increased risk of CAD.