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Published on: April 1, 2019
Association of ET1 and APE1 Genes Polymorphism with Coronary Artery Disease
Syed T Raza1, Ale Eba1, Irshad A Wani2
1Department of Biochemistry, Era's Lucknow Medical College and Hospital Lucknow, Uttar Pradesh, India.
Insights
Genetic variations in the ET1 and APE1 genes were not linked to an increased risk of coronary artery disease (CAD). This study found no significant association between these specific gene polymorphisms and CAD susceptibility in the studied population.
Area of Science:
- Cardiovascular Genetics
- Molecular Epidemiology
- Disease Susceptibility
Background:
- Coronary artery disease (CAD) is a leading global cause of mortality and disability.
- CAD arises from complex interactions between genetic and environmental factors, often exhibiting a polygenic architecture.
Purpose of the Study:
- To investigate the association between Endothelin 1 (ET1) and Apolipoprotein E (APE1) gene polymorphisms and the susceptibility to coronary artery disease (CAD).
Main Methods:
- Genomic DNA was isolated from venous blood samples using the phenol-chloroform extraction method.
- Restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) was employed to analyze ET1 and APE1 gene polymorphisms.
- Genotype frequencies of APE1 (AA, AG, GG) and ET1 (GG, GT, TT) were compared between CAD cases and control groups.
Main Results:
- The frequencies of APE1 genotypes (AA, AG, GG, AG+GG) in CAD cases were 13.91%, 40.87%, 45.22%, and 86.99%, versus 13%, 50%, 37%, and 87% in controls.
- The frequencies of ET1 genotypes (GG, GT, TT, GT+TT) in CAD cases were 6.67%, 37.5%, 55.8%, and 93.34%, versus 6.67%, 25.33%, 68%, and 93.34% in controls.
- No statistically significant association was found between ET1 or APE1 gene polymorphisms and the risk of developing CAD.
Conclusions:
- The studied polymorphisms in the ET1 and APE1 genes do not appear to be significant risk factors for coronary artery disease.
- Further research with larger cohorts and diverse populations may be warranted to fully elucidate the role of these genes in CAD pathogenesis.
Abstract:
Coronary artery disease (CAD) is one of the most common cardiovascular diseases (CVDs), being the foremost reason for mortality and disability globally. It is a cascade of polygenic architecture of various disorders as a resultant of complexities between various genetic factors and environmental factors. The aim of the present study was to investigate whether the ET1 and APE1 gene polymorphism is associated with the susceptibility to CAD. This study was approved by the Ethical Review Committee of Era Medical College and Hospital. Three milliliters of venous blood sample was collected in ethylenediaminetetraacetic acid-coated vials, and genomic DNA was isolated by using the standard phenol-chloroform extraction method for restriction fragment length polymorphism-polymerase chain reaction study. The APE1 gene AA, AG, GG, and AG + GG genotypes frequencies were 13.91, 40.87, 45.22, and 86.99% in CAD cases and 13, 50, 37, and 87% in controls, respectively. The ET1 gene GG, GT, TT, GT + TT genotypes frequencies were 6.67, 37.5, 55.8, and 93.34% in CAD cases and 6.67, 25.33, 68, and 93.34% in controls. The ET1 and APE1 gene polymorphisms were not significantly associated with the risk of CAD.
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