Abstract
Objective:To find out if there is any relationship of methylation status of ABO gene promoter with the risk of acute myocardial infarction (AMI) in a hospital-based Pakistani population in Karachi, Pakistan.Methods:A case control study comprising of 39 adult AMI patients (both males and females; age range 30-70 years) and 39 normal healthy controls (both males and females and similar age range) nested in a large study (to see the relationship of ABO genotypes with AMI) was designed to investigate the methylation status of ABO gene promoter and its association with AMI. The study was carried out at the Aga Khan University, Karachi during July 2018 to June 2019. DNA isolated from samples of AMI patients and normal healthy controls were converted into bisulphite DNA using a kit method. Methylation specific polymerase chain reaction was carried out to determine the methylation status of ABO gene promoter in both cases and controls. Logistic regression was used to find out any association between increased methylation status of ABO gene promoter and risk of AMI.Results:A significantly higher percentage of DNA methylation of the ABO gene promoter was observed in AMI patients as compared to normal healthy controls (82.1% vs. 35.9%; p value <0.001). This higher methylation status of ABO gene promoter was associated with AMI and the odds of AMI in this population were more than 6-fold in subjects with methylated gene promoter compared to those with unmethylated gene promoter after adjusting with age and waist circumference [AOR (95% CI) = 6.27 (1.76-22.3); p value = 0.005].Conclusion:The ABO gene promoter’s hypermethylation appears to be increasing the risk of AMI in a hospital-based Pakistani population in Karachi, Pakistan.
Highlights
ABO gene locus encodes for glycosyl transferases which modify the terminal oligosaccharides of the precursor H antigen, thereby making antigen A and antigen B
The study had the approval of the Ethics Review Committees (ERC) (Ref#: 3048-BBSERC-14 dated on July 17, 2018) of the Aga Khan University (AKU) and National Institute of Cardiovascular Disease (NICVD) (Ref#: ERC-10/2015 dated on May 30, 2015)
DNA samples isolated from acute myocardial infarction (AMI) patients (n=39) and normal healthy controls (n=39) were randomly selected from the samples collected for the large study
Summary
ABO gene locus encodes for glycosyl transferases which modify the terminal oligosaccharides of the precursor H antigen, thereby making antigen A and antigen B. While A and B alleles of ABO gene are enzymatically active, the O allele is inactive, and cannot modify precursor H antigen leading to. O antigen.[1] expression of ABO gene locus is associated with the expression of ABO phenotypes in individuals. A systematic review by Chen et al, 2016 has shown an association of blood group A and non O blood groups with increased risk of coronary artery disease (CAD).[2] A recent report from China indicated that blood group A was an independent risk factor for severity of CAD.[3] These reports show that expression of ABO gene has an indirect relationship with the development of CAD
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