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(Reference retrieved automatically from SciELO through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

THYLENETETRAHYDROFOLATE REDUCTASE GENE POLYMORPHISMS AND SUSCEPTIBILITY TO ESOPHAGEAL CANCER: A CASE-CONTROL STUDY

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Author(s):
Evelise Pelegrinelli Zaidan [1] ; Michele Tatiana Pereira Tomitão [2] ; Marina Alessandra Pereira [3] ; Marcia Saldanha Kubrusly [4] ; Adriana Vaz Safatle-Ribeiro [5] ; Flavio Roberto Takeda [6] ; Ivan Cecconello [7] ; Ulysses Ribeiro Junior [8]
Total Authors: 8
Affiliation:
[1] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
[2] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
[3] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
[4] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
[5] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
[6] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
[7] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
[8] Universidade de São Paulo. Faculty of Medicine. Cancer Institute - Brasil
Total Affiliations: 8
Document type: Journal article
Source: ABCD-ARQUIVOS BRASILEIROS DE CIRURGIA DIGESTIVA-BRAZILIAN ARCHIVES OF DIGESTIVE SURGERY; v. 35, 2022-09-09.
Abstract

ABSTRACT BACKGROUND: The enzyme methylenetetrahydrofolate reductase is engaged in DNA synthesis through folate metabolism. Inhibiting the activity of this enzyme increases the susceptibility to mutations, and damage and aberrant DNA methylation, which alters the gene expression of tumor suppressors and proto-oncogenes, potential risk factors for esophageal cancer. AIMS: This study aimed to investigate the association between methylenetetrahydrofolate reductase 677C>T and methylenetetrahydrofolate reductase 1298A>C polymorphisms and susceptibility to esophageal cancer, by assessing the distribution of genotypes and haplotypes between cases and controls, as well as to investigate the association of polymorphisms with clinical and epidemiological characteristics and survival. METHODS: A total of 109 esophageal cancer patients who underwent esophagectomy were evaluated, while 102 subjects constitute the control group. Genomic DNA was isolated from the peripheral blood buffy coat followed by amplification by polymerase chain reaction and real-time analysis. Logistic regression was used to assess associations between polymorphisms and the risk of developing esophageal cancer. RESULTS: There was no association for methylenetetrahydrofolate reductase 677C>T and methylenetetrahydrofolate reductase 1298A>C polymorphisms and haplotypes, with esophageal cancer susceptibility. Esophageal cancer patients carrying methylenetetrahydrofolate reductase 677TT polymorphism had higher risk of death from the disease. For polymorphic homozygote TT genotype, the risk of death significantly increased compared to wild-type genotype methylenetetrahydrofolate reductase 677CC (reference) cases (p=0.045; RR=2.22, 95%CI 1.02–4.83). CONCLUSIONS: There was no association between methylenetetrahydrofolate reductase 677C>T and methylenetetrahydrofolate reductase 1298A>C polymorphisms and esophageal cancer susceptibility risk. Polymorphic homozygote genotype methylenetetrahydrofolate reductase 677TT was associated with higher risk of death after surgical treatment for esophageal cancer. (AU)

FAPESP's process: 12/17920-2 - Analysis of the cyclooxygenase-2 (COX-2) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms in esophageal cancer
Grantee:Ulysses Ribeiro Júnior
Support Opportunities: Regular Research Grants