C677T polymorphism

Association of the C677T polymorphism in the methylenetetrahydrofolate reductase gene with breast cancer in a Mexican population

A. Ramos-Silva, Figuera, L. E., Soto-Quintana, O. M., Puebla-Pérez, A. M., Ramírez-Patiño, R., Gutiérrez-Hurtado, I., Carrillo-Moreno, D. I., Zúñiga-González, G. M., Dávalos-Rodríguez, I. P., and Gallegos-Arreola, M. P., “Association of the C677T polymorphism in the methylenetetrahydrofolate reductase gene with breast cancer in a Mexican population”, vol. 14, pp. 4015-4026, 2015.

The methylenetetrahydrofolate reductase (MTHFR) gene plays an important role in the steps involved in the processing of amino acids. The analysis of polymorphisms in the MTHFR gene has revealed associations with cancer; in particular the C677T polymorphism, which has been suggested to affect folate metabolism, DNA methylation, synthesis, and repair, and to contribute to tumor promotion in the mammary gland.

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

V. Antonio-Véjar, del Moral-Hernández, O., Alarcón-Romero, L. C., Flores-Alfaro, E., Leyva-Vázquez, M. A., Hernández-Sotelo, D., and Illades-Aguiar, B., “Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico”, vol. 13, pp. 7950-7957, 2014.

In this study, we examined the distribution of genotype and allele frequencies of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase gene (MTHFR) in two ethnic groups in the State of Guerrero, Mexico, which were compared with those of the Mestizo population of the region. A comparative study was conducted on 455 women from two ethnic groups and a group of Mestizo women of the State of Guerrero, Mexico: 135 Nahuas, 124 Mixtecas, and 196 Mestizas.

C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects

M. O. Erdogan, Yildiz, S. H., Solak, M., Eser, O., Cosar, E., Eser, B., Koken, R., and Buyukbas, S., “C677T polymorphism of the methylenetetrahydrofolate reductase gene does not affect folic acid, vitamin B12, and homocysteine serum levels in Turkish children with neural tube defects”, vol. 9, pp. 1197-1203, 2010.

Association between neural tube defects (NTDs) and C677T polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene was suspected, because the MTHFR gene codes for a key enzyme in folate metabolism. Its deficiency usually leads to significant reductions in plasma concentrations of folate, vitamin B12 and methionine, whereas homocysteine levels are increased. We examined folate, vitamin B12 and homocysteine serum concentrations and polymorphism of the C677T MTHFR gene in Turkish children with neural tube defects.

Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer

A. D. Clarizia, Bastos-Rodrigues, L., Pena, H. B., Anacleto, C., Rossi, B., Lopes, A., Rocha, J. Cláudio C., Caballero, O., Camargo, A., Simpson, A. J. G., Pena, S. D. J., and Soares, F. A., “Relationship of the methylenetetrahydrofolate reductase C677T polymorphism with microsatellite instability and promoter hypermethylation in sporadic colorectal cancer”, vol. 5, pp. 315-322, 2006.

The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with the expression of a thermolabile enzyme with decreased activity that influences the pool of methyl-donor molecules. Several studies have reported an association between C677T polymorphism and susceptibility to colorectal cancer (CRC).

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