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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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
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author Neagos, D
Cretu, R
Tutulan–Cunita, A
Stoian, V
Bohiltea, LC
author_facet Neagos, D
Cretu, R
Tutulan–Cunita, A
Stoian, V
Bohiltea, LC
author_sort Neagos, D
collection PubMed
description 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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spelling pubmed-30190792011-03-03 Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study Neagos, D Cretu, R Tutulan–Cunita, A Stoian, V Bohiltea, LC J Med Life Special Article 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. Carol Davila University Press 2010-11-15 2010-11-25 /pmc/articles/PMC3019079/ /pubmed/21254748 Text en ©Carol Davila University Press http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Special Article
Neagos, D
Cretu, R
Tutulan–Cunita, A
Stoian, V
Bohiltea, LC
Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
title Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
title_full Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
title_fullStr Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
title_full_unstemmed Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
title_short Methylenetetrahydrofolate dehydrogenase (MTHFD) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
title_sort methylenetetrahydrofolate dehydrogenase (mthfd) enzyme polymorphism as a maternal risk factor for trisomy 21: a clinical study
topic Special Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019079/
https://www.ncbi.nlm.nih.gov/pubmed/21254748
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