Nutrigenomic analysis of C677T mutation of MTHFR gene in Slovak population
DOI:
https://doi.org/10.5219/136Keywords:
MTHFR, nutrigenetics, C677TAbstract
Total of 124 individuals originated from Slovak Republic has been nutrignomically analysed. Analysis was focused to mutation C677T of MTHFR gene detection and analysis of mutant genotypes frequency. Observed frequency of allele 677C was 0.6998 and allelic frequency of mutant variant 677T was 0.3992. Genotype frequency of mutant heterozygotes with 71% activity of MTHFR enzyme was 0,391 and mutant homozygotes with 33% MTHFR enzyme activity was 0.153. Result shows 64% of Slovak has decreased activity of enzyme MTHFR, and 14.3% of Slovak has predisposition to cancer, cardio vascular diseases, loss of fertility and many others complications according to improper nutrition, low folic acid and B12 vitamin intake.
Downloads
Metrics
References
ALMAWI, W. Y., FINAN, R. R., TAMIM, H., DACCACHE, J. L., IRANI-HAKIME, N. 2004. Differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene among the Lebanese population. In American journal of hematology, vol. 76, 2004, no. 1, p. 85-87.
https://doi.org/10.1002/ajh.20047 DOI: https://doi.org/10.1002/ajh.20047
PMid:15114606
FRIEDRICH, M. G., WEISENBERGER, D. J., CHENG, J. C., CHANDRASOMA, S., SIEGMUND, K. D., GONZALGO, M. L., TOMA, M. I., HULAND, H., YOO, C., TSAI, Y. C., NICHOLS, P. W., BOCHNER, B. H., JONES, P. A., LIANG, G. 2004. Detection of methylated apoptosis-associated genes in urine sediments of bladder cancer patients. In Clinical cancer research : an official journal of the American Association for Cancer Research, vol. 10, 2004, no. 22, p. 7457-7465.
https://doi.org/10.1158/1078-0432.CCR-04-0930 DOI: https://doi.org/10.1158/1078-0432.CCR-04-0930
PMid:15569975
FROSST, P., BLOM, H. J., MILOS, R., GOYETTE, P., SHEPPARD, C. A., MATTHEWS, R. G., BOERS, G. J., DEN HEIJER, M., KLUIJTMANS, L. A., VAN DEN HEUVEL, L. P. 1995. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. In Nature genetics, vol. 10, 1995, no. 1, p. 111-113.
https://doi.org/10.1038/ng0595-111 DOI: https://doi.org/10.1038/ng0595-111
PMid:7647779
GOYETTE, P., SUMNER, J. S., MILOS, R., DUNCAN, A. M., ROSENBLATT, D. S., MATTHEWS, R. G., ROZEN, R. 1994. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. In Nature genetics, vol. 7, 1994, no. 2, p. 195-200. DOI: https://doi.org/10.1038/ng0694-195
https://doi.org/10.1016/S0022-3476(81)80660-9
PMid: 7920641
HARPEY, J. P., ROSENBLATT, D. S., COOPER, B. A., LE MOËL, G., ROY, C., LAFOURCADE, J. 1981. Homocystinuria caused by 5,10-methylenetetrahydrofolate reductase deficiency: a case in an infant responding to methionine, folinic acid, pyridoxine, and vitamin B12 therapy. In The Journal of pediatrics, vol. 98, 1981, no. 2, p. 275-278.
https://doi.org/10.1016/S0022-3476(81)80660-9 DOI: https://doi.org/10.1016/S0022-3476(81)80660-9
PMid:7007598
JONES, P. A. 2001. Cancer. Death and methylation. In Nature, vol. 409, 2001, no. 6817, p. 141.
https://doi.org/10.1038/35051677 DOI: https://doi.org/10.1038/35051677
KAMEL, A. M., MOUSSA, H. S., EBID, G. T., BU, R. R., BHATIA, K. G. 2007. Synergistic effect of methyltetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism as risk modifiers of pediatric acute lymphoblastic leukemia. In Journal of the Egyptian National Cancer Institute, vol. 19, 2007, no. 2, p. 96-105.
PMid:19034339
LEVINE, A. J., FIGUEIREDO, J. C., LEE, W., CONTI, D. V., KENNEDY, K., DUGGAN, D. J., POYNTER, J. N., CAMPBELL, P. T., NEWCOMB, P., MARTINEZ, M. E., HOPPER, J. L., LE MARCHAND, L., BARON, J. A., LIMBURG, P. J., ULRICH, C. M., HAILE, R. W. 2010. A candidate gene study of folate-associated one carbon metabolism genes and colorectal cancer risk. In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, vol. 19, 2010, no. 7, p. 1812-1821.
https://doi.org/10.1158/1055-9965.EPI-10-0151 DOI: https://doi.org/10.1158/1055-9965.EPI-10-0151
PMid:20615890
MA, J., STAMPFER, M. J., GIOVANNUCCI, E., ARTIGAS, C., HUNTER, D. J., FUCHS, C., WILLETT, W. C., SELHUB, J., HENNEKENS, C. H., ROZEN, RIMA. 1997. Methylenetetrahydrofolate Reductase Polymorphism, Dietary Interactions, and Risk of Colorectal Cancer. In Cancer Res., vol. 57, 1997, no. 6, p. 1098-1102.
PMid:9067278
RAO, D. M., NAYARISSERI, A., YADAV, M., KS, S., PATEL, D. 2010. Comparative modeling of methylentetrahydrofolate reductase (MTHFR) enzyme and its mutational assessment: in silico approach. In International Journal of Bioinformatics Research, vol. 2, 2010, no. 1, p. 5-9. DOI: https://doi.org/10.9735/0975-3087.2.1.5-9
ROFFMAN, J. L., WEISS, A. P., DECKERSBACH, T., FREUDENREICH, O., HENDERSON, D. C., PURCELL, S., WONG, D. H., HALSTED, C. H., GOFF, D. C. 2007. Effects of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism on executive function in schizophrenia. In Schizophrenia research, vol. 92, 2007, no. 1-3, p. 181-188.
https://doi.org/10.1016/j.schres.2007.01.003 DOI: https://doi.org/10.1016/j.schres.2007.01.003
PMid:17344026
ROFFMAN, J. L., WEISS, A. P., PURCELL, S., CAFFALETTE, C. A., FREUDENREICH, O., HENDERSON, D. C., BOTTIGLIERI, T., WONG, D. H., HALSTED, C. H., GOFF, D. C. 2008. Contribution of methylenetetrahydrofolate reductase (MTHFR) polymorphisms to negative symptoms in schizophrenia. In Biological psychiatry, vol. 63, 2008, no. 1, p. 42-48.
https://doi.org/10.1016/j.biopsych.2006.12.017 DOI: https://doi.org/10.1016/j.biopsych.2006.12.017
PMid:17543893
SAFFROY, R., BENYAMINA, A., PHAM, P., MARILL, C., KARILA, L., REFFAS, M., DEBUIRE, B., REYNAUD, M., LEMOINE, A. 2008. Protective effect against alcohol dependence of the thermolabile variant of MTHFR. In Drug and alcohol dependence, vol. 96, 2008, no. 1-2, p. 30-36.
https://doi.org/10.1016/j.drugalcdep.2008.01.016 DOI: https://doi.org/10.1016/j.drugalcdep.2008.01.016
PMid:18328637
SAFFROY, R., PHAM, P., CHIAPPINI, F., GROSS-GOUPIL, M., CASTERA, L., AZOULAY, D., BARRIER, A., SAMUEL, D., DEBUIRE, B., LEMOINE, A. 2004. The MTHFR 677C > T polymorphism is associated with an increased risk of hepatocellular carcinoma in patients with alcoholic cirrhosis. In Carcinogenesis, vol. 25, 2004, no. 8, p. 1443-1448.
https://doi.org/10.1093/carcin/bgh147 DOI: https://doi.org/10.1093/carcin/bgh147
PMid:15033905
SHEN, H., XU, Y., ZHENG, Y., QIAN, Y., YU, R., QIN, Y., WANG, X., SPITZ, M. R., WEI, Q. 2001. Polymorphisms of 5,10-methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: a case-control study. In International journal of cancer. Journal international du cancer, vol. 95, 2001, no. 5, p. 332-6.
https://doi.org/10.1002/1097-0215(20010920)95:5<332::AID-IJC1058>3.0.CO;2-9 DOI: https://doi.org/10.1002/1097-0215(20010920)95:5<332::AID-IJC1058>3.0.CO;2-9
PMid:11494235
SKIBOLA, C. F., SMITH, M. T., KANE, E., ROMAN, E., ROLLINSON, S., CARTWRIGHT, R. A., MORGAN, G. 1999. Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. In Proceedings of the National Academy of Sciences of the United States of America, vol. 96, 1999, no. 22, p. 12810-12815.
https://doi.org/10.1073/pnas.96.22.12810 DOI: https://doi.org/10.1073/pnas.96.22.12810
PMid:10536004
SOOD, S., DAS, R., TREHAN, A., AHLUWALIA, J., SACHDEVA, M. U., VARMA, N., BANSAL, D., MARWAHA, R. K. 2010. Methylenetetrahydrofolate reductase gene polymorphisms: association with risk for pediatric acute lymphoblastic leukemia in north Indians. In Leukemia & lymphoma, vol. 51, 2010, no. 5, p. 928-932.
https://doi.org/10.3109/10428191003719023 DOI: https://doi.org/10.3109/10428191003719023
PMid:20367562
TATARSKYY, P., KUCHERENKO, A., LIVSHITS, L. 2010. Allelic polymorphism of F2, F5 and MTHFR genes in population of Ukraine. In T͡Sitologii͡a i genetika, vol. 44, 2010, no. 3, p. 3-8.
https://doi.org/10.3103/S0095452710030011 DOI: https://doi.org/10.3103/S0095452710030011
PMid:20608153
WEISBERG, I., TRAN, P., CHRISTENSEN, B., SIBANI, S., ROZEN, R. 1998. A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. In Molecular genetics and metabolism, vol. 64, 1998, no. 3, p. 169-172.
https://doi.org/10.1006/mgme.1998.2714 DOI: https://doi.org/10.1006/mgme.1998.2714
PMid:9719624
WU, H.-C., CHANG, C.-H., TSAI, R.-Y., LIN, C.-H., WANG, R.-F., TSAI, C.-W., CHEN, K.-B., YAO, C.-H., CHIU, C.-F., BAU, D.-T., LIN, C.-C. 2010. Significant Association of Methylenetetrahydrofolate Reductase Single Nucleotide Polymorphisms with Prostate Cancer Susceptibility in Taiwan. In Anticancer Res, vol. 30, 2010, no. 9, p. 3573-3577.
PMid:20944139
Downloads
Published
How to Cite
Issue
Section
License
This license permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited, and is not altered, transformed, or built upon in any way.
