The MTR 2756A>G polymorphism and maternal risk of birth of a child with Down syndrome: A case-control study and a meta-analysis

Fabio Coppedè, Paolo Bosco, Valentina Lorenzoni, Francesca Migheli, Concetta Barone, Ivana Antonucci, Liborio Stuppia, Corrado Romano, Lucia Migliore

Research output: Contribution to journalArticlepeer-review

Abstract

Methionine synthase (MTR) is required for the conversion of homocysteine (hcy) to methionine in the one-carbon metabolic pathway. Previous studies investigating a common MTR 2756A>G polymorphism as a maternal risk factor for the birth of a child with Down syndrome (DS) are conflicting and limited by small case-control cohorts, and its contribution to circulating hcy levels is still debated. We performed a large case-control study and a meta-analysis of the literature to further address the role of MTR 2756A>G as a maternal risk factor for the birth of a child with DS. 286 mothers of a DS child (MDS) and 305 control mothers of Italian origin were included in the case-control study. Genotyping was performed by means of PCR/RFLP technique. Data on circulating levels of hcy, folates, and vitamin B12 were available for 189 MDS and 194 control mothers. The meta analysis of previous and present data involved a total of 8 studies (1,171 MDS and 1,402 control mothers). Both the case-control study and the meta-analysis showed no association of MTR 2756A>G with the maternal risk of birth of a child with DS (OR = 1.15; 95 % CI 0.85-1.55, and OR = 1.08; 95 % CI 0.93-1.25, respectively), even after stratification of the overall data available for the meta-analysis into ethnic groups. No association of the studied polymorphism with circulating levels of hcy, folates, and vitamin B12 was observed. Present data do not support a role for MTR 2756A>G as independent maternal risk factor for a DS birth.

Original languageEnglish
Pages (from-to)6913-6925
Number of pages13
JournalMolecular Biology Reports
Volume40
Issue number12
DOIs
Publication statusPublished - Dec 2013

Keywords

  • Down syndrome
  • Folate
  • Homocysteine
  • Meta-analysis
  • Methionine synthase
  • MTR 2756A>G polymorphism
  • Vitamin B12

ASJC Scopus subject areas

  • Genetics
  • Molecular Biology

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