C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population

7 páginas

Autores:: Romero Sánchez, Consuelo
Gómez Gutiérrez, Alberto
Elena Gómez, Piedad
Casas Gomez, Maria Consuelo
Briceño Balcázar, Ignacio

Tipo de recurso:

Fecha de publicación:: 2015

Institución:: Universidad de la Sabana

Repositorio:: Repositorio Universidad de la Sabana

Idioma:: eng

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spelling	Romero Sánchez, ConsueloGómez Gutiérrez, AlbertoElena Gómez, PiedadCasas Gomez, Maria ConsueloBriceño Balcázar, Ignacio8/26/2019 15:262019-08-26T20:26:02Z2015http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1607/2627http://hdl.handle.net/10818/368447 páginasIntroduction: Abnormal levels of the enzyme methylenetetrahydrofolate reductase (MTHFR) are associated with an increased risk of both cardiovascular and cerebrovascular disease and higher concentrations of homocysteine. Abnormal levels are also related to birth defects, pregnancy complications, cancer and toxicity to methotrexate (MTX). Polymorphisms of MTHFR affect the activity of the enzyme. Genetic associations have been related to treatment efficacy. Objective: To establish the frequency of the C> T polymorphism at nucleotide 677 of the MTHFR gene in a group of Colombian individuals. Methods: Data from pharmacogenetic microarrays that include MTX sensibility-associated polymorphisms were retrospectively collected (Pathway Genomics®). The frequency of the C> T MTHFR rs1801133 marker polymorphism was analyzed. Results: Microarray data from 68 men and 84 women were analyzed. Comparisons of genotype C/C vs. C/T and T/T were statistically significantly different (p= 0.00, p= 0.026, respectively), as were C/T and T / T (p= 0.0001). Conclusions: Results for the C/C and C/T genotypes in a Colombian population are similar to other previously studied groups of healthy subjects. Subjects from our population might be at risk of developing diseases associated with MTHFR polymorphisms and might present toxicity and adverse effects if treated with MTX, which suggests the need to evaluate therapeutic alternatives based on individual pharmacogenetic studies.application/pdfengColombia MédicaColombia Médica Vol 46, No 2 (2015)Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Universidad de La SabanaIntellectum Repositorio Universidad de La SabanaMethotrexategenotypeAllelesPolymorphismMetylentetrahidrofolate-reductaseC677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian populationC677T RS1801133 MTHFR gene polymorphism frequency in a colombian populationarticlepublishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/36844/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD53CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8805https://intellectum.unisabana.edu.co/bitstream/10818/36844/2/license_rdf4460e5956bc1d1639be9ae6146a50347MD5210818/36844oai:intellectum.unisabana.edu.co:10818/368442022-05-10 05:18:07.136Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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
dc.title.es_CO.fl_str_mv	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population
dc.title.alternative.en.fl_str_mv	C677T RS1801133 MTHFR gene polymorphism frequency in a colombian population
title	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population
spellingShingle	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population Methotrexate genotype Alleles Polymorphism Metylentetrahidrofolate-reductase
title_short	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population
title_full	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population
title_fullStr	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population
title_full_unstemmed	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population
title_sort	C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population
dc.creator.fl_str_mv	Romero Sánchez, Consuelo Gómez Gutiérrez, Alberto Elena Gómez, Piedad Casas Gomez, Maria Consuelo Briceño Balcázar, Ignacio
dc.contributor.author.none.fl_str_mv	Romero Sánchez, Consuelo Gómez Gutiérrez, Alberto Elena Gómez, Piedad Casas Gomez, Maria Consuelo Briceño Balcázar, Ignacio
dc.subject.es_CO.fl_str_mv	Methotrexate genotype Alleles Polymorphism Metylentetrahidrofolate-reductase
topic	Methotrexate genotype Alleles Polymorphism Metylentetrahidrofolate-reductase
description	7 páginas
publishDate	2015
dc.date.issued.none.fl_str_mv	2015
dc.date.available.none.fl_str_mv	2019-08-26T20:26:02Z
dc.date.accessioned.none.fl_str_mv	8/26/2019 15:26
dc.type.en.fl_str_mv	article
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dc.identifier.other.none.fl_str_mv	http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1607/2627
dc.identifier.uri.none.fl_str_mv	http://hdl.handle.net/10818/36844
url	http://colombiamedica.univalle.edu.co/index.php/comedica/article/view/1607/2627 http://hdl.handle.net/10818/36844
dc.language.iso.es_CO.fl_str_mv	eng
language	eng
dc.relation.ispartofseries.none.fl_str_mv	Colombia Médica Vol 46, No 2 (2015)
dc.rights.*.fl_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.coar.fl_str_mv	http://purl.org/coar/access_right/c_abf2
dc.rights.uri.*.fl_str_mv	http://creativecommons.org/licenses/by-nc-nd/4.0/
rights_invalid_str_mv	Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ http://purl.org/coar/access_right/c_abf2
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dc.publisher.es_CO.fl_str_mv	Colombia Médica
dc.source.es_CO.fl_str_mv	Universidad de La Sabana Intellectum Repositorio Universidad de La Sabana
institution	Universidad de la Sabana
bitstream.url.fl_str_mv	https://intellectum.unisabana.edu.co/bitstream/10818/36844/3/license.txt https://intellectum.unisabana.edu.co/bitstream/10818/36844/2/license_rdf
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C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population

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