1. Non-syndromic Cleft Lip and Palate Patients of the North Indian Population and the Association of Methylenetetrahydrofolate Reductase Gene.
- Author
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Yadav J, Raghav P, Mishra RK, Upadhyaya DN, Prasad V, Chaturvedi CP, and Singh K
- Abstract
Introduction: Cleft lip and palate (CLP) is a common congenital anomaly characterized by incomplete fusion of the lip and/or palate during embryonic development. The etiology of CLP is multifactorial, involving genetics and different environmental factors. The methylenetetrahydrofolate reductase ( MTHFR ) gene has been proposed as a candidate gene associated with CLP due to its involvement in folate metabolism and DNA methylation processes. However, the association between MTHFR gene variants and CLP in non-syndromic patients in the North Indian population remains unclear., Aim and Objectives: This research aimed to see the association between MTHFR gene polymorphisms in non-syndromic patients with CLP in the North Indian population., Materials and Method: A case-control observational design comprised 50 CLP patients (cases) and 50 healthy individuals without CLP (controls). Blood samples were collected from patients visiting two hospitals. Genomic DNA was extracted from collected peripheral blood samples, and the genotyping of MTHFR gene polymorphisms (specifically, C677T) was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The allelic and genotypic frequencies of MTHFR gene variants were compared between cases and controls using appropriate statistical tests., Result: This research revealed a significant association between MTHFR gene polymorphism and CLP in the North Indian population. The odds for the genotypes reach statistical significance, suggesting that the MTHFR gene variant may play a major role in this population's susceptibility to non-syndromic CLP., Conclusion: This study provides evidence for a linkage between the MTHFR gene C677T polymorphism and an increased risk of CLP in non-syndromic patients in the North Indian population. These findings do support the involvement of MTHFR gene variants in the etiology of CLP. In the future, more research is warranted to elucidate the underlying mechanisms linking MTHFR gene variants to CLP and to explore potential gene-environment interactions in this context., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. The Institutional Ethics Committee of King George's Medical University, Lucknow, UP, issued approval 110 ECM II A/P10. The Institutional Ethics Committee in its meeting held on 4th December 2021 has reviewed and discussed your clarification vide letter no. 1109 dated 1st November 2021 to conduct the research proposal entitled "Association of genetic variations of the TGF alpha and MTHFR genes with non-syndromic cleft lip with or without cleft palate in North Indian population" submitted by you. EC Decision: Approved, Dr. Shally Awasthi, Member Secretary IEC, dated 22/12/21, no. 1851/Ethics/2021. Animal subjects: All authors have confirmed that this study did not involve animal subjects or tissue. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Yadav et al.)
- Published
- 2024
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