Unraveling Coronary Artery Disease vulnerability in patients with ABO gene polymorphism: A Case-Control Study in Pakistan perspective

Objectives: This study was aimed to explore the association of ABO gene variants with coronary artery disease. Methodology: This was a case-control study. Cases and controls were individuals with greater than 50% and less than 30% stenosis, respectively. One hundred thirty-eight samples were obtained, with 69 cases and 69 controls. The operator completed a proforma regarding demographics, medical history, and blood group. The bench work included blood typing, followed by blood genotyping by DNA extraction, PCR, and then Sanger's sequencing. The single nucleotide polymorphisms (SNPs) selected for the ABO gene were rs8176746 and rs8176719. Results: The results show that 68.1% of the participants were male cases, compared to 49.27% controls. The frequency of patients belonging to the old age group (60-75 years) was 65.21% in cases and 34.78% in controls. A+ was the most prevalent group in cases, with 33.33%, followed by 24.6% B+, 23.2% O+, and 4.3% AB+. Patients with Rh-ve groups were rare. On the contrary, 33.33% of patients were O+ in controls. A chi-square test showed that the A+ blood group was significantly associated with CAD, having a p-value of 0.01. Although blood genotypes did not show a significant p-value, the odds of having genotype AA was 1.35 times higher in cases compared to the controls. Conclusion: This study shows that the A+ group is significantly associated with CAD. The data obtained through Sanger’s sequencing determined the genetic variants of blood groups, but no statistically significant association was found between them and CAD.