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title:Study of Association of Methylenetetrahydrofolate Reductase C677T Polymorphism with Essential Hypertension in Eastern India

Author:Rituparna Maji, Kazi Ashique Firdoush, Anindya Dasgupta

Keywords:Single nucleotide polymorphism, Methylenetetrahydrofolate reductase, Restriction fragment length polymorphism, Essential hypertension, rs1801133, C677T

Type:Original Article

Abstract:"Introduction: Essential Hypertension (EH) is a complex disease, resulting from the interaction of multiple genetic & environmental factors. Mutation of Cytosine to Thymine at position 677 of methylenetetrahydrofolate reductase (MTHFR) gene causes decreased activity of the enzyme and it has been attributed to essential hypertension in many studies. There is limited data from Indian population on this topic. Hence a case-control study was designed to assess the association MTHFR C677T polymorphism with EH in the eastern Indian subpopulation. Methodology: Polymerase chain reaction using suitable primer, followed by restriction fragment length polymorphism analysis using Hinf 1 enzyme was used to identify MTHFR C677T genotypes in 207 diagnosed hypertensive patients and 210 matched controls. Results: Not a single mutant TT genotype was found in either case or control group in our study population. Frequency of heterozygote CT was higher in case group (23.1%) than control (18.2%) but the difference was statistically non-significant (OR: 0.741, 95% CI: 0.430-1.275). Also, no significant difference of allele frequency between the two groups was observed for the polymorphisms studied (OR: 0.767, 95% CI: 0.460-1.278). Conclusion: Our data shows that MTHFR C677T polymorphism is not associated with the risk of EH in this population. "

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