Study on the polymorphism of methylenetetrahydrofolate reductase C677T gene as the genetic predisposition of congenital heart disease in North Indian population

Authors

  • Amrita Panja 1Research Fellow, Department of Zoology, Cytogenetics Laboratory, Banaras Hindu University, Varanasi-221005, India, 2Research Fellow, Department of Zoology, Molecular Biology and Human Genetics Laboratory, The University of Burdwan, Burdwan-713104, India https://orcid.org/0000-0002-2857-1062
  • Abhishek Abhinay Associate Professor, Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanas-221005, India https://orcid.org/0000-0003-3309-4157
  • Antim Akash Pakhira Research Fellow, Department of Clinical Nutrition and Dietetics, Vidyasagar University, Midnapore-721102, India https://orcid.org/0000-0001-9960-6536

DOI:

https://doi.org/10.3126/ajms.v13i2.40766

Keywords:

Congenital Heart Disease, Homocysteine, Methylenetetrahydrofolate reductase, Polymorphism

Abstract

Background: The etiology of congenital heart disease (CHD) is still not known properly. The variant alleles in the methylenetetrahydrofolate reductase (MTHFR) C677T gene help in elevating the serum homocysteine level which is an independent predisposing factor for generating CHD.

Aims and Objectives: The aim of the present study was to analyze the role of polymorphism of MTHFR C677T gene polymorphisms in CHD patients of Varanasi, Uttar Pradesh, North India.

Materials and Methods: The present study included 36 unrelated CHD patients along with their parents. At the same time, 40 healthy control samples were included in the study. MTHFR 677 C>T genotype was identified by polymerase chain reaction followed by restriction digestion restriction fragment length polymorphism mechanism.

Results: There was a significant difference observed in MTHFR C677T gene polymorphism between the cases and controls (P<0.001). Among the different etiological factors, increased maternal age, family history, and teratogens are the major ones. Maternal MTHFR C677T genotype and periconceptional folate intake have important ascription toward CHD formation.

Conclusion: The results designate that MTHFR C677T polymorphism has a substantial association with the development and progression of CHDs. Folate supplementation might be the probable management strategy for reducing the risk of CHDs as maternal MTHFR C677T polymorphism has an important contribution.

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Published

2022-02-01

How to Cite

Panja, A., Abhinay, A., & Pakhira, A. A. (2022). Study on the polymorphism of methylenetetrahydrofolate reductase C677T gene as the genetic predisposition of congenital heart disease in North Indian population. Asian Journal of Medical Sciences, 13(2), 86–94. https://doi.org/10.3126/ajms.v13i2.40766

Issue

Vol. 13 No. 2 (2022)

Section

Original Articles

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Copyright (c) 2022 Asian Journal of Medical Sciences

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