Dr. Deepak Kumar, Dr. Kuldip Singh Laller, Dr. Dharmpal Singh, Dr. Susheela Taxak, Vandna Singh, Dr. Harimohan


Background and Aim: Coronary artery disease is a multifactorial disease caused by various risk factors including genetic factors. MTHFR
A1298C polymorphism is one of the important genetic factor which has clinical contribution. Due to lack of information on associations of
MTHFR A1298C polymorphism with CAD, we aimed to assess the risk of MTHFR A1298C polymorphism with CAD in patients from Haryana
Materials and Methods: This study included 97 CAD patients (56 males, 41 females) and 93 healthy controls (males 51, females 42) between 21-
50 years of age. The risk factors, lipid profile and clinical parameter were recorded. DNA was isolated from blood and MTHFR A1298C
polymorphism was screened by PCR-RFLP.
Results: No significant difference (p>0.05) in the distribution of MTHFR A1298C polymorphism is observed in CAD patients as compared to
healthy controls. No significant difference (p>0.05) in the distribution of MTHFR A1298C polymorphism among young age (≤40 years) CAD
patients demonstrate no independent association of MTHFR A1298C polymorphism with the early onset of the disease. No significant difference
(P>0.05) in the incidence of AA, AC and CC is observed in CAD patients with positive family history.
Conclusion: The MTHFR A1298C polymorphism does not associate with the development of CAD in patients from Haryana and therefore, rule
out the possibility of independent risk factor for the development of CAD. The incidence of MTHFR A1298C polymorphism does not differ
among CAD patients with age, sex and positive family history.


Coronary artery disease, MTHFR A1298C, Family history, Haryana.

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