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Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma

Evidence is accumulating for a role of folate in the aetiology of colorectal cancer (CRC). The methylenetetrahydrofolate reductase (MTHFR) gene, involved in folate metabolism, is polymorphic in humans. Since it is unknown whether the MTHFR C677T and A1298C polymorphisms alter the risk for CRC, this...

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Published in:International journal of colorectal disease 2007-07, Vol.22 (7), p.757-763, Article 757
Main Authors: LIMA, Carmen S. P, NASCIMENTO, Helvia, BONADIA, Luciana C, TEORI, Maria T, COY, Claudio S. R, GOES, Juvenal R. N, COSTA, Fernando F, BERTUZZO, Carmen S
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creator LIMA, Carmen S. P
NASCIMENTO, Helvia
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BERTUZZO, Carmen S
description Evidence is accumulating for a role of folate in the aetiology of colorectal cancer (CRC). The methylenetetrahydrofolate reductase (MTHFR) gene, involved in folate metabolism, is polymorphic in humans. Since it is unknown whether the MTHFR C677T and A1298C polymorphisms alter the risk for CRC, this was the aim of our study. Genomic DNA from 102 sporadic colorectal adenocarcinoma (SCA) patients and 300 controls was analyzed by polymerase chain reaction followed by restriction digestion for the polymorphisms analyses. The frequencies of MTHFR C677T and A1298C genotypes were similar in patients and controls. Similar overall risks for disease were seen in individuals with the distinct MTHFR genotypes. However, an excess of the MTHFR 677TT and 677CT genotypes was seen in patients under 50 years, compared with patients at an older age (19.2 vs 13.1% and 61.6 vs 39.5%, respectively; P = 0.04). The differences were more prominent when the frequency of the 677TT plus 677CT genotype was seen in both group of patients (80.8 vs 52.6%, respectively; P = 0.01), and in younger patients compared to controls (80.8 vs 52.3%, P < 0.01). Individuals with the combined genotype had 3.82-fold (95% confidence interval, 1.41-10.42) increased risk of developing SCA under 50 years, compared with those harboring the wild-type genotype. These results suggest a role for the MTHFR 677TT plus 677CT genotype in increasing SCA diagnosed at a low age in southeastern Brazil, but additional studies with larger sample sizes should be carried out to clarify this issue.
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source Springer Nature:Jisc Collections:Springer Nature Read and Publish 2023-2025: Springer Reading List
subjects Adenocarcinoma
Adenocarcinoma - epidemiology
Adenocarcinoma - genetics
Adenocarcinoma - pathology
Age Factors
Age of Onset
Biological and medical sciences
Biomarkers, Tumor - genetics
Cancer
Colorectal cancer
Colorectal carcinoma
Colorectal Neoplasms - epidemiology
Colorectal Neoplasms - genetics
Colorectal Neoplasms - pathology
DNA, Neoplasm - genetics
Female
Folic acid
Gastroenterology. Liver. Pancreas. Abdomen
Genotype
Genotype & phenotype
Humans
Male
Medical sciences
Methylenetetrahydrofolate reductase
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Middle Aged
Neoplasm Staging
Polymerase Chain Reaction
Polymorphism, Genetic
Prognosis
Retrospective Studies
Risk Factors
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
title Polymorphisms in methylenetetrahydrofolate reductase gene (MTHFR) and the age of onset of sporadic colorectal adenocarcinoma
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