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Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction
Surendra Kumar1, Avshesh Mishra, Anshika Srivastava
1Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226 014, India. balraj@sgpgi.ac.in.
Journal of Genetics
|June 29, 2016
Summary
The MYBPC3 25-bp deletion is linked to a higher risk of left ventricular dysfunction (LVD) in patients with coronary artery disease (CAD). This genetic variation also impacts cardiac remodeling, suggesting a role in both LVD and CAD development.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Sarcomeric gene mutations are a primary cause of cardiomyopathies.
- A specific MYBPC3 deletion is linked to cardiomyopathies in Southeast Asia.
- The association between sarcomeric gene polymorphisms and left ventricular dysfunction (LVD) requires further investigation.
Purpose of the Study:
- To investigate the association of MYBPC3 25-bp deletion, TTN 18 bp I/D, TNNT2 5 bp I/D, and myospryn K2906N polymorphisms with LVD.
- To determine the clinical presentation associated with these genetic polymorphisms in patients with coronary artery disease (CAD).
Main Methods:
- Genotyping was performed on 988 CAD patients and 300 healthy controls.
- MYBPC3, TTN, and TNNT2 polymorphisms were analyzed using direct polymerase chain reaction.
- Myospryn K2906N polymorphism was assessed using TaqMan assay.
Main Results:
- The MYBPC3 25-bp deletion polymorphism was significantly associated with an increased risk of LVD (OR=3.85, P <0.001 vs. controls; OR=1.65, P = 0.035 vs. non-LVD).
- No significant association was found between TTN 18 bp I/D, TNNT2 5 bp I/D, or myospryn K2906N polymorphisms and LVD.
- MYBPC3 25-bp deletion was also linked to altered left ventricular dimensions (LVEDD, P = 0.037; LVESD, P = 0.032).
Conclusions:
- The MYBPC3 25-bp deletion may play a significant role in the development of LVD.
- This polymorphism is also associated with increased risk of CAD in the North Indian population.
- Further research is warranted to elucidate the precise mechanisms underlying the association between MYBPC3 25-bp deletion and cardiac dysfunction.
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