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Association between methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and risk of ischemic stroke in North Indian population: A hospital based case–control study

Amit Kumar
Shubham Misra
Anjali Hazarika
Pradeep Kumar
Ram Sagar
Abhishek Pathak
Kamalesh Chakravarty
Kameshwar Prasad


Objective: The aim of the present case–control study was to determine the association between methylene tetrahydrofolate reductase (MTHFR) C677T (rs1801133) gene polymorphism and risk of ischemic stroke (IS) in North Indian population.
Methods: Patients with IS and age-sex matched controls were recruited from Neurology Outpatient Department and Ward of All India Institute of Medical Sciences, New Delhi, India. Genotyping was performed by polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP) method. PCR–RFLP results of nine randomly selected samples were confirmed
by DNA sequencing. Genotypic and allelic distributions were compared between cases and controls. Statistical analysis was done by STATA, version 13.0 software.
Results: Hypertension, diabetes, dyslipidemia, low socioeconomic status and family history of stroke were found to have an independent association with the risk of IS after adjusting for potential confounding factors. Mean age of cases and controls were 52.83± 12.59 and 50.97 ± 12.70 years. Multivariate logistic regression analysis showed an independent association between MTHFR C677T gene polymorphism and risk of IS (OR 1.91; 95% CI 1.07–3.41; p=0.028) under dominant model [CT+ TT vs. CC]. MTHFR C677T gene polymorphism was found to be independently associated with risk of small vessel disease (SVD) after adjustment for potential confounding factors [OR 2.51; 95% CI 1.30–4.85; p= 0.006] under the dominant model.
Conclusion: Findings of the present study suggest that MTHFR C677T gene polymorphism might be a risk factor of IS mainly for SVD subtypes of IS in North Indian population. Further large prospective studies are required to confirm these findings.