Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome.

Abstract:

OBJECTIVE:The purpose of this research was to study factors that are involved in centromeric hypomethylation in the pathogenesis of Down syndrome (DS). STUDY DESIGN:This was a case-control study to evaluate the association between methyltetrahydrofolate reductase (MTHFR) C677T and methionine synthetase-reductase (MTRR) A66G polymorphisms and the risk of DS; we compared mothers in Italy who had children with DS and matched control subjects. RESULTS:Seventy-four cases of DS caused by an error in maternal meiosis were compared with 184 matched control subjects. The frequencies of the MTHFR C677T polymorphism were similar between the 2 groups. As regards the MTRR A66G polymorphism, the presence of the mutated G allele either in the heterozygous or homozygous form was significantly more common among mothers of children with DS than among control subjects (odds ratio, 2.21; 95% CI, 1.11-4.40). CONCLUSION:In a population with a high prevalence of the mutated T allele, maternal MTRR A66G, but not MTHFR, polymorphisms are associated with Down syndrome.

journal_name

Am J Obstet Gynecol

authors

Pozzi E,Vergani P,Dalprà L,Combi R,Silvestri D,Crosti F,Dell'Orto M,Valsecchi MG

doi

10.1016/j.ajog.2008.12.046

subject

Has Abstract

pub_date

2009-06-01 00:00:00

pages

636.e1-6

issue

6

eissn

0002-9378

issn

1097-6868

pii

S0002-9378(08)02454-X

journal_volume

200

pub_type

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