MTHFR

MTHFR C677T and A1298C polymorphisms as predictors of radiotherapy response in head and neck squamous cell carcinoma

Q. S. Anders, Stur, E., Agostini, L. P., Garcia, F. M., Reis, R. S., Santos, J. A., Mendes, S. O., Maia, L. L., Peterle, G. T., Stange, V., Carvalho, M. B., Tajara, E. H., Santos, M., Silva-Conforti, A. M. A., and Louro, I. D., MTHFR C677T and A1298C polymorphisms as predictors of radiotherapy response in head and neck squamous cell carcinoma, vol. 14, pp. 13105-13109, 2015.

The C677T and A1298C polymorphisms in methylene­tetrahydrofolate reductase (MTHFR), which regulates the release of active folate in the body, may have reduced activity. Given that folate participates in important intracellular pathways, such as nucleotide synthesis and biomolecule methylation, it seems plausible that patients with head and neck squamous cell carcinoma (HNSCC) may respond differently to radiotherapy treatments, based on genetic polymor­phisms. Therefore, this study sought to understand the role of these polymorphisms in HNSCC patient radiotherapy response.

Association between MTHFR 677C/T and 1298A/C gene polymorphisms and breast cancer risk

X. F. Zhang, Liu, T., Li, Y., and Li, S., Association between MTHFR 677C/T and 1298A/C gene polymorphisms and breast cancer risk, vol. 14, pp. 16425-16430, 2015.

We performed a case-control study to investigate the association between single nucleotide polymorphisms in the MTHFR gene (677C/T and 1298A/C) and risk of breast cancer. This case-control study included 216 breast cancer cases and 216 controls. The MTHFR 677C/T and 1298A/C gene polymorphisms were assessed by polymerase chain reaction restriction fragment length polymorphism.

Correlation between MTHFR gene methylation and pre-eclampsia, and its clinical significance

J. Ge, Wang, J., Zhang, F., Diao, B., Song, Z. F., Shan, L. L., Wang, W., Cao, H. J., and Li, X. Q., Correlation between MTHFR gene methylation and pre-eclampsia, and its clinical significance, vol. 14, pp. 8021-8028, 2015.

We investigated the correlation between 5,10-methy­lenetetrahydrofolate reductase (MTHFR) gene methylation and pre-eclampsia, and its clinical significance, by comparing methylation in the MTHFR gene promoter of the placenta and peripheral venous blood in pre-eclampsia and normal gravidas. We enrolled 259 gravidas from the People’s Liberation Army 202nd Hospital, China, between January 2011 and September 2011, including 127 pre-eclampsia and 132 nor­mal gravidas.

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.

Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study

N. M. Cadenas-Benitez, Yanes-Sosa, F., Gonzalez-Meneses, A., Cerrillos, L., Acosta, D., Praena-Fernandez, J. M., Neth, O., I. de Terreros, G., and Ybot-González, P., Association of neural tube defects in children of mothers with MTHFR 677TT genotype and abnormal carbohydrate metabolism risk: a case-control study, vol. 13, pp. 2200-2207, 2014.

Abnormalities in maternal folate and carbohydrate metabolism have both been shown to induce neural tube defects (NTD) in humans and animal models. However, the relationship between these two factors in the development of NTDs remains unclear. Data from mothers of children with spina bifida seen at the Unidad de Espina Bífida del Hospital Infantil Virgen del Rocío (case group) were compared to mothers of healthy children with no NTD (control group) who were randomly selected from patients seen at the outpatient ward in the same hospital.

Association of dietary intake of folate and MTHFR genotype with breast cancer risk

Z. G. Wang, Cui, W., Yang, L. F., Zhu, Y. Q., and Wei, W. H., Association of dietary intake of folate and MTHFR genotype with breast cancer risk, vol. 13, pp. 5446-5451, 2014.

We conducted a hospital-based case-control study to investigate the associations of dietary intake of folate and MTHFR C677T and A1298C polymorphisms with breast cancer in a Chinese population. A 1:1-matched case-control study was conducted. Two hundred and thirty patients who were newly diagnosed and histologically confirmed breast cancer and 230 controls were enrolled from Xinxiang Central Hospital. Folate intake was calculated by standard portion size and relative size for each food item in the questionnaire. Genotyping of MTHFR C677T and A1298C was performed by PCR-RFLP.

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.

Association between dietary intake of folate and MTHFR and MTR genotype with risk of breast cancer

J. M. He, Pu, Y. D., Wu, Y. J., Qin, R., Zhang, Q. J., Sun, Y. S., Zheng, W. W., and Chen, L. P., Association between dietary intake of folate and MTHFR and MTR genotype with risk of breast cancer, vol. 13, pp. 8925-8931, 2014.

We investigated the association between dietary intake of folate, vitamin B6, and the 5,10-methylenetetrahydrofolate reductase (MTHFR) genotype with breast cancer. A matched case-control study was conducted, and 413 patients with newly diagnosed and histologically confirmed breast cancer and 436 controls were recruited. Folate intake, vitamin B6, and vitamin B12 levels were calculated, and the MTHFR C677T and A1298C and MTR A2756G polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism.

Impact of MTHFR polymorphisms on methylation of MGMT in glioma patients from Northeast China with different folate levels

N. Liu, Jiang, J., Song, Y. J., Zhao, S. G., Tong, Z. G., Song, H. S., Wu, H., Zhu, J. Y., Gu, Y. H., Sun, Y., Hua, W., and Qi, J. P., Impact of MTHFR polymorphisms on methylation of MGMT in glioma patients from Northeast China with different folate levels, vol. 12, pp. 5160-5171, 2013.

Hypomethylation of the O6-methylguanine-DNA-methyltransferase (MGMT) promoter in glioma cells has been associated with temozolomide resistance. S-adenosylmethionine (SAM), which is produced during folate metabolism, is the main source of methyl groups during DNA methylation. As a key enzyme during folate metabolism, polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) may regulate folate end-products.

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.

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