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CC BY-NC-ND 4.0 · Asian J Neurosurg 2021; 16(03): 554-561
DOI: 10.4103/ajns.AJNS_372_20
Original Article

Study of C677T methylene tetrahydrofolate reductase gene polymorphism as a risk factor for neural tube defects

Anjalika Goyal   *
Department of Biochemistry, PGIMS, Pandit Bhagwat Dayal Sharma University of Health Sciences, Rohtak, Haryana
,
Manjulata Kumawat
Department of Biochemistry, PGIMS, Pandit Bhagwat Dayal Sharma University of Health Sciences, Rohtak, Haryana
,
Minakshi Vashisth
1   Department of Genetics, Maharshi Dayanand University, Rohtak, Haryana
,
Paramjit Gill
2   Department of Microbiology, PGIMS, Pandit Bhagwat Dayal Sharma University of Health Sciences, Rohtak, Haryana
,
Ishwar Sing
3   Department of Neurosurgery, PGIMS, Pandit Bhagwat Dayal Sharma University of Health Sciences, Rohtak, Haryana
,
Dhara Dhaulakhandi   *
4   Department of Biotechnology and Molecular Medicine, PGIMS, Pandit Bhagwat Dayal Sharma University of Health Sciences, Rohtak, Haryana
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Introduction: Various genetic and environmental factors contribute to the development of neural tube defects (NTDs) which are a group of neurulation defects resulting from failure of closure of embryonic neural tube. Among genetic factors is polymorphism in methylene tetrahydrofolate reductase (MTHFR) gene, giving rise to a gene variant or mutant. However, in most studies directed at finding an association between MTHFR variants and NTD, there is no clear evidence of a cause-and-effect relationship. Materials and Methods: Forty diagnosed cases of NTDs and forty healthy individuals were investigated in a case–control study for presence of C677T MTHFR gene polymorphism. Serum folate and Vitamin B12 levels were estimated and MTHFR gene polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism. Results: It was found that 32 cases were homozygous with CC genotype and eight were heterozygous with CT genotype, whereas 35 controls had CC genotype and five had CT genotype. TT genotype was absent in both the groups. There was no statistically significant difference between both the groups. No evidence of association between MTHFR C677T polymorphism and NTDs was found. Conclusion: Although there was no evidence of association between MTHFR C677T polymorphism and NTDs, our study does not rule out the impact of MTHFR gene mutation on folate metabolism. The reason for absence of TT genotype and no association could be a small sample size. Larger, comprehensive, and well-designed multicentric but feasible studies involving proper subjects and appropriate and adequate controls from several hospitals may provide more meaningful data.

Key-words:

Allele - association - methylene tetrahydrofolate reductase - neural tube defect - polymorphism

Financial support and sponsorship

Nil.


* contributed equally




Publication History

Received: 29 July 2020

Accepted: 26 March 2021

Article published online:
16 August 2022

© 2021. Asian Congress of Neurological Surgeons. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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