Impact of the MTHFR C677T polymorphism on colorectal cancer in a population with low genetic variability

Purposes Methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism, and folate is implicated in carcinogenesis by its role in DNA methylation, repair, and synthesis. We analyzed the impact of MTHFR C677T polymorphism in colorectal cancer in a region of the Tenerife Island who...

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Bibliographic Details
Published in:International journal of colorectal disease 2013-09, Vol.28 (9), p.1187-1193
Main Authors: Delgado-Plasencia, Luciano, Medina-Arana, Vicente, Bravo-Gutiérrez, Alberto, Pérez-Palma, Julián, Álvarez-Argüelles, Hugo, Salido-Ruiz, Eduardo, Fernández-Peralta, Antonia M., González-Aguilera, Juan J.
Format: Article
Language:English
Subjects:
5-Fluorouracil
Amino Acid Substitution - genetics
Colorectal Neoplasms - drug therapy
Colorectal Neoplasms - enzymology
Colorectal Neoplasms - genetics
Female
Gastroenterology
Genetic Predisposition to Disease
Hepatology
Humans
Internal Medicine
Kaplan-Meier Estimate
Male
Medicine
Medicine & Public Health
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Original Article
Polymorphism, Single Nucleotide - genetics
Proctology
Risk Factors
Surgery
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Summary:Purposes Methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism, and folate is implicated in carcinogenesis by its role in DNA methylation, repair, and synthesis. We analyzed the impact of MTHFR C677T polymorphism in colorectal cancer in a region of the Tenerife Island whose population has a history of genetic isolation and a low genetic variability. This allows analyzing the effects of the polymorphism that are not due to interactions with different genetic variants. Methods Genomic DNA of 50 Spanish sporadic colorectal cancer (CRC) patients and 103 controls was analyzed by PCR/RFLP and sequencing. Results The T allele is more frequent in controls than in patients ( P  
ISSN:0179-1958
1432-1262
DOI:10.1007/s00384-013-1644-6