Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile
Date
2014
Type:
Artículo
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6
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Journal Title
Journal ISSN
Volume Title
Publisher
Sociedad Médica de Santiago
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Abstract
Background: 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.
Description
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Citation
Revista Médica de Chile 2014, vol.142,p.587-592
Keywords
Myelomeningocele, folic acid, MTHRF protein, human, Spinal dysraphism