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Study of Association of MTHFR C677T Gene Polymorphism and Folate Level in Colorectal Cancer Patients

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Last updated: 03 Jan 2025

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Abstract

Background: Genomic DNA replication, DNA repair, and folate metabolism are all impacted by methyltransferase (MTHFR), an important enzyme in folate metabolism. Among the many diseases associated with common functional variants of MTHFR, cancer is one. Objective: to study the link between the C677T mutation of the MTHFR gene and the risk of colorectal cancer (CRC). Patients and Methods: Included in this case-control study were thirty patients with a confirmed colorectal cancer (CRC) diagnosis by histopathology and twenty healthy controls who were matched for gender and age. In a laboratory setting, PCR-RFLP was used to determine the MTHFR C677T genotype and blood folic acid levels. Results: In comparison to the healthy controls, people with colorectal cancer had far lower mean folic acid levels. A much lower percentage of CC genotype was found in people with colorectal cancer compared to healthy controls. No statistically significant trend was observed in the increasing frequency of CT and TT genotypes among CRC patients. A statistically significant increase in CRC relative to controls was indicated by a 2.5-fold higher T allele frequency in CRC patients compared to controls. The CC genotype had a greater folic acid level than the TT genotype, according to an analysis of MTHFR C677T genotypes in healthy controls and colorectal cancer patients. Conclusion: colorectal carcinoma is associated with low folate status. MTHFR 677 T allele is associated with colorectal carcinoma in cases of low folate concentration. Adequate folate supplementation is required for people who carry the 677TT genotype to lower the risk of colorectal cancer occurrence. Further study with large number of studied groups is recommended to confirm this result.  

DOI

10.21608/ejhm.2024.390057

Keywords

MTHFR C677T gene, Polymorphism, Folate level, colorectal cancer

Volume

97

Article Issue

1

Related Issue

50804

Issue Date

2024-10-01

Receive Date

2024-11-02

Publish Date

2024-10-01

Page Start

3,855

Page End

3,861

Print ISSN

1687-2002

Online ISSN

2090-7125

Link

https://ejhm.journals.ekb.eg/article_390057.html

Detail API

https://ejhm.journals.ekb.eg/service?article_code=390057

Order

63

Type

Original Article

Type Code

606

Publication Type

Journal

Publication Title

The Egyptian Journal of Hospital Medicine

Publication Link

https://ejhm.journals.ekb.eg/

MainTitle

Study of Association of MTHFR C677T Gene Polymorphism and Folate Level in Colorectal Cancer Patients

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Type

Article

Created At

24 Dec 2024