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Updated: May 19, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
Published on: April 1, 2019
Role of thrombomodulin gene in Indian population with coronary artery disease
Swarup A Shah1, Tester F Ashavaid, Ranjit Mankeshwar
1Research Laboratories, P. D. Hinduja National Hospital & Medical Research Centre, Mumbai, India.
Insights
Thrombomodulin (TM) genetic variants did not significantly increase coronary artery disease (CAD) risk. However, the TM Ala455Val substitution was linked to higher CAD risk in Indian subjects aged 49 years and younger.
Area of Science:
- Cardiovascular Genetics
- Molecular Medicine
- Biomarker Discovery
Background:
- Thrombomodulin (TM) is a natural anticoagulant.
- TM is implicated in the pathogenesis of coronary artery disease (CAD).
- TM's role as a potential CAD biomarker is emphasized.
Purpose of the Study:
- Investigate the role of TM genetic variants in CAD.
- Assess soluble TM (sTM) plasma levels in the Indian population with CAD.
- Determine the association between TM genetic variants and CAD risk.
Main Methods:
- Case-control study design.
- Genotyping of the entire TM gene.
- Estimation of sTM plasma levels in 266 subjects.
Main Results:
- No significant association between four identified TM genetic variants and overall CAD risk.
- Subgroup analysis revealed a significant association between the C1418T variant (Ala455Val substitution) and CAD in subjects ≤49 years.
- Soluble TM (sTM) plasma levels were not detailed in the provided abstract summary.
Conclusions:
- TM Ala455Val substitution is associated with increased CAD risk in younger Indian individuals (≤49 years).
- This finding suggests a potential role for TM genetic variants in early-onset CAD.
- Further validation in larger Indian cohorts is necessary to establish clinical utility for screening asymptomatic young subjects.
Context:
Thrombomodulin (TM), a natural anticoagulant have been implicated in the pathogenesis of coronary artery disease (CAD) thus emphasizing its potential role as a biomarker.
Objectives:
To investigate the role of the TM genetic variants and soluble TM (sTM) plasma levels in Indian population with CAD.
Materials And Methods:
This case-control study involved genotyping of the entire TM gene and sTM levels estimation in 266 subjects.
Results:
None of the four TM genetic variants identified significantly increased CAD risk in the study population. However, further subgroup analysis revealed that in subjects ≤49 years, C1418T variant (Ala455Val substitution) was significantly associated with CAD.
Conclusion:
The increased CAD risk in subjects ≤49 years due to TM Ala455Val substitution is a promising finding. Further validation on large Indian cohorts is required in order to screen asymptomatic young subjects for CAD risk and to establish the clinical utility of Ala455Val substitution.
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