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Updated: Aug 4, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
TNFR2 gene polymorphism in coronary artery disease
V H Sankar1, K M Girisha, A Gilmour
1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow - 226014, India.
The MM genotype of the tumor necrosis factor receptor 2 (TNFR2) gene is linked to increased coronary artery disease (CAD) risk. Conversely, the RM genotype appears to offer protection against CAD development.
Area of Science:
- Genetics
- Cardiology
- Immunology
Background:
- Atherosclerosis and coronary artery disease (CAD) are increasingly recognized as inflammatory conditions.
- Genetic variations in inflammatory markers are associated with CAD development.
Purpose of the Study:
- To investigate the association between a specific biallelic polymorphism in the tumor necrosis factor receptor 2 (TNFR2) gene (position 196, exon 6) and coronary artery disease.
- To determine if TNFR2 gene variants influence CAD susceptibility.
Main Methods:
- A prospective case-control study was conducted with 150 angiographically confirmed CAD patients and 150 age-matched controls from North India.
- Genotyping for the TNFR2 gene polymorphism was performed using polymerase chain reaction and restriction fragment length polymorphism analysis.
- Statistical analysis included Chi-square tests for genotype frequency comparison and binary logistic regression to assess the relationship between genotypes and CAD, controlling for other variables.
Main Results:
- The MM genotype showed a significantly higher incidence of CAD (65%) compared to the RM genotype (42%).
- A significant association was found between the MM genotype and the development of CAD (P < 0.001; OR=2.585; 95% CI=1.533-4.359).
- This association between TNFR2 genotype and CAD remained significant after logistic regression analysis.
Conclusions:
- The MM genotype of the TNFR2 gene is associated with an increased risk of developing coronary artery disease.
- The RM genotype of the TNFR2 gene appears to have a protective effect against coronary artery disease.
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