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Thrombophilic molecular markers in young patients (<40 years) with coronary artery disease
Mingma Sherpa1, Satendra Sharma, Rajnish Avasthi
1Department of Pathology, University College of Medical Sciences, Delhi, India.
Insights
Young Indian adults with coronary artery disease (CAD) show a high prevalence of thrombophilia gene mutations, including Factor V Leiden (FVL) and MTHFR. These genetic factors may increase the risk of thrombosis in this population.
Area of Science:
- Cardiovascular Genetics
- Molecular Biology
- Thrombosis Research
Background:
- Coronary artery disease (CAD) incidence is rising in young Indians (<45 years).
- Previous studies on hemostatic aspects of CAD lacked combined analysis of thrombophilic markers.
- This study investigates thrombophilia-related molecular markers in young CAD patients.
Purpose of the Study:
- To determine the association of specific thrombophilia gene mutations with CAD in young Indian adults.
- To identify the prevalence of Factor V Leiden (FVL), MTHFR, TNFR2, and prothrombin gene mutations in young CAD patients.
- To explore the role of these genetic markers in the context of other risk factors.
Main Methods:
- Included 30 diagnosed CAD patients (<40 years) and 30 healthy controls.
- Collected detailed medical history and clinical examination findings.
- Performed polymerase chain reaction (PCR) for Factor V Leiden (FVL), MTHFR, TNFR2, and prothrombin gene mutations.
Main Results:
- Mean patient age was 36.86 ± 3.90 years; smoking was the most prevalent risk factor.
- FVL, MTHFR, and TNFR2 mutations were found in 30% of patients; 3 patients had multiple mutations.
- FVL (13.3%), MTHFR (10%), and TNFR2 (16.6%) mutations were observed; prothrombin gene mutation was absent. No significant difference in lipid profile, fibrinogen, or CRP was noted between mutated and non-mutated groups.
Conclusions:
- Nearly one-third of young CAD patients exhibited thrombophilia gene mutations.
- The presence of these mutations, alongside other risk factors, may elevate the risk of future thrombosis.
- Further research on larger, diverse populations is needed to confirm these findings and understand ethnic/geographic variations.
Background:
There has been an alarming rise in the incidence of coronary artery disease (CAD) in India especially involving the age group of less than 45 years. In recent past, various studies focused on hemostatic aspects of CAD, but could not determine the significance of thrombophilic molecular marker in combination. The study was undertaken to investigate the association of thrombophilia related molecular markers in young patients with CAD.
Materials And Methods:
Thirty diagnosed patients with CAD of either sex under 40 years were included. Thirty healthy age and sex matched control subjects without evidence of CAD formed the control group. Detailed history and clinical examination findings were recorded. In addition to routine investigations, polymerase chain reaction (PCR) based molecular analysis for Factor V Leiden (FVL), methyltetrahydrofolate reductase (MTHFR) gene, tumor necrosis factor receptor 2 (TNFR2) gene, and prothrombin gene mutation were carried out.
Results:
The mean age (± SD) was 36.86 ± 3.90 years in the patients. Smoking was the most prevalent risk factor. FVL, MTHFR and TNFR2 gene mutation were seen in nine (30%) patient. Three patients had presence of more than one mutation. FVL, MTHFR and TNFR2 gene mutation was found in 4 (13.3%), 3 (10%), and 5 (16.6%) patients respectively. Prothrombin gene mutation was not seen in any of the subjects. There was no significant difference in lipid profile, fibrinogen levels and CRP among the patients with mutation and patients without mutation.
Conclusion:
Almost one-third of the cases were positive for the various mutations in the study and the presence of at-least one or the other risk factor adds on to the risk of future thrombosis. There is a need to demonstrate or document these mutations in a larger group further based upon ethnicity and geographic distribution.
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