Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile

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dc.contributor.authorPardo, Rosa
dc.contributor.authorSuazo, José
dc.contributor.authorCastillo, Silvia
dc.contributor.authorVargasa, Marcela
dc.contributor.authorZalavaria, Andrea
dc.contributor.authorSantos, José Luis
dc.contributor.authorBlanco, Rafael
dc.contributor.authorRotter, Karin
dc.contributor.authorSolar, Margarita
dc.contributor.authorTapia, Eva
dc.date.accessioned2017-03-02T18:59:57Z
dc.date.available2017-03-02T18:59:57Z
dc.date.issued2014
dc.description.abstractBackground: Mandatory fortification with folic acid (FA) was implemented in Chile in 2000. Thereafter, the rate of spina bifida decreased by 52 to 55%. Genetic abnormalities in folate metabolism may be involved in the etiology of spina bifida. Aim: To evaluate the association between myelomeningocele (MM) and c.A1298C and c.C677T polymorphisms within the coding gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) in the Chilean population. Material and Methods: These polymorphisms were genotyped in 105 patients showing isolated MM, born after the onset of FA fortification, and in their parents. The transmission disequilibrium test (TDT) was performed to evaluate alterations in the transmission of both alleles and haplotypes MTHFR polymorphism. We also evaluated the presence of parent-origin-effect (POE) of alleles using the Clayton’s extension of the TDT. Results: TDT analysis showed no significant distortions in the transmission of alleles or haplotypes. Moreover, although the POE showed increased risk for maternally derived allele, this risk was not statistically significant. Conclusions: The studied variants in the MTHFR gene (c.C677T and c.A1298C) do not constitute risk factors for MM in this sample of Chilean patients and their parents.
dc.format.extent6
dc.identifier.citationRevista Médica de Chile 2014, vol.142,p.587-592
dc.identifier.urihttp://hdl.handle.net/11447/990
dc.identifier.urihttp://dx.doi.org/10.4067/S0034-98872014000500006
dc.language.isospa
dc.publisherSociedad Médica de Santiago
dc.subjectMyelomeningocele, folic acid, MTHRF protein, human
dc.subjectSpinal dysraphism
dc.titleEstudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile
dc.title.alternativeMethylenetetrahydrofolate reductase polymorphisms as risk factors for myelomeningocele
dc.typeArtículo

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