Association between the MTHFR (rs1801133) gene variation and serum trace elements levels (Copper and Zinc) in individuals diagnosed with neural tube defects

•Neural Tube Defects are congenital anomalies affecting the brain or spinal cord during embryonic development.•MTHFR is a vital enzyme of folate metabolism that involved in DNA synthesis and repair.•MTHFR gene mutations containing two most prevalent variations, C677T (ref SNP ID: rs1801133, A222V) a...

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Published in:Clinica chimica acta 2024-08, Vol.562, p.119856, Article 119856
Main Authors: Singh, Nitish Kumar, Choudhary, Sarita, Rai, Sangeeta, Yadav, Abhay Kumar, Singh, Royana
Format: Article
Language:English
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Summary:•Neural Tube Defects are congenital anomalies affecting the brain or spinal cord during embryonic development.•MTHFR is a vital enzyme of folate metabolism that involved in DNA synthesis and repair.•MTHFR gene mutations containing two most prevalent variations, C677T (ref SNP ID: rs1801133, A222V) and 1298AC (ref SNP ID: rs1801131, E429A), affect neural development.•Equilibrium between zinc and copper levels, emphasizing the importance of maintaining an appropriate balance for neural tube development. Neural tube defects (NTDs) occur when the neural tube fails to close within 28 days of human embryonic development. This results in central nervous system disorders like anencephaly, spina bifida, and encephalocele. Early diagnosis and treatment are crucial to minimize their impact on an individual’s health and well-being. The present study aims to define the association between prenatal exposure to trace elements (Cu and Zn) and the single nucleotide polymorphism (SNP) of the MTHFR gene involved in folate metabolism pathways in neural tube defects in children and their mothers. A cross-sectional study involving 331 participants (90 NTD cases, 88 healthy mothers, 85 NTD children, and 68 healthy children) from antenatal check-ups in Obstetrics and Gynaecology and Pediatric Surgery for Neural Tube Defects in the Outpatient Department (OPD) and Inpatient Department (IPD). Assessed Cu and Zn concentrations and their associations. Genomic DNA was extracted, and real-time PCR was used to determine genotypes. Atomic absorption spectrophotometry measured trace elements. Statistical analyses included Chi-Square tests, odds ratios, and Mann-Whitney U tests. Significant associations were found between MTHFR C677T genotypes and NTD risk in mothers (p = 0.0491) and children (p = 0.0297). Allelic frequency analysis indicated a T allele association with NTD risk in children (p = 0.0107). Recessive models showed significant associations in mothers (p = 0.0169) and children (p = 0.1678). Cu levels differed significantly between NTD cases and controls (p 
ISSN:0009-8981
1873-3492
1873-3492
DOI:10.1016/j.cca.2024.119856