Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile
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 myelomeningocel...
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| Lenguaje: | Spanish / Castilian |
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Sociedad Médica de Santiago
2014
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oai:scielo:S0034-988720140005000062014-10-10Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en ChilePardo,RosaSuazo,JoséCastillo,SilviaVargas,MarcelaZalavari,AndreaSantos,José LuisBlanco,RafaelRotter,KarinSolar,MargaritaTapia,Eva Myelomeningocele folic acid MTHRF protein human Spinal dysraphism 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.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.142 n.5 20142014-05-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000500006es10.4067/S0034-98872014000500006 |
| institution |
Scielo Chile |
| collection |
Scielo Chile |
| language |
Spanish / Castilian |
| topic |
Myelomeningocele folic acid MTHRF protein human Spinal dysraphism |
| spellingShingle |
Myelomeningocele folic acid MTHRF protein human Spinal dysraphism Pardo,Rosa Suazo,José Castillo,Silvia Vargas,Marcela Zalavari,Andrea Santos,José Luis Blanco,Rafael Rotter,Karin Solar,Margarita Tapia,Eva Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile |
| description |
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. |
| author |
Pardo,Rosa Suazo,José Castillo,Silvia Vargas,Marcela Zalavari,Andrea Santos,José Luis Blanco,Rafael Rotter,Karin Solar,Margarita Tapia,Eva |
| author_facet |
Pardo,Rosa Suazo,José Castillo,Silvia Vargas,Marcela Zalavari,Andrea Santos,José Luis Blanco,Rafael Rotter,Karin Solar,Margarita Tapia,Eva |
| author_sort |
Pardo,Rosa |
| title |
Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile |
| title_short |
Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile |
| title_full |
Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile |
| title_fullStr |
Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile |
| title_full_unstemmed |
Estudio de asociación de base familiar entre polimorfismos de MTHFR y mielomeningocele en Chile |
| title_sort |
estudio de asociación de base familiar entre polimorfismos de mthfr y mielomeningocele en chile |
| publisher |
Sociedad Médica de Santiago |
| publishDate |
2014 |
| url |
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872014000500006 |
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