Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study

Recent reports linking Down syndrome (DS) to maternal polymorphism at the methylenetetrahydrofolate dehydrogenase (MTHFD) locus have generated a great interest among investigators in the field. In the current study, we examine one genetic polymorphism involved in homocysteine/folate pathway as a ris...

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Detalles Bibliográficos
Autores principales: Neagos, D, Cretu, R, Tutulan–Cunita, A, Stoian, V, Bohiltea, LC
Formato: Texto
Lenguaje:English
Publicado: Carol Davila University Press 2010
Materias:
Special Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019079/
https://www.ncbi.nlm.nih.gov/pubmed/21254748
Descripción
Sumario:Recent reports linking Down syndrome (DS) to maternal polymorphism at the methylenetetrahydrofolate dehydrogenase (MTHFD) locus have generated a great interest among investigators in the field. In the current study, we examine one genetic polymorphism involved in homocysteine/folate pathway as a risk factor for DS in a Romanian urban–area women cohort. Our results show that the frequencies of MTHFD1 alleles, as well as the frequencies of MTHFD11958 genotypes (GG, GA, AA, GA+AA) do not correlate with DS pregnancies, demonstrating no difference between the case and control groups, as opposed to the findings of Scala et al. (2006) on an Italian cohort.

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