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. © 2009 Mosby, Inc. All rights reserved.

Pozzi, E., Vergani, P., Dalpra', L., Combi, R., Silvestri, D., Crosti, F., et al. (2009). Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 200, 636.e1-636.e6 [10.1016/j.ajog.2008.12.046].

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

VERGANI, PATRIZIA;DALPRA', LEDA;COMBI, ROMINA;VALSECCHI, MARIA GRAZIA
2009

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. © 2009 Mosby, Inc. All rights reserved.
Articolo in rivista - Articolo scientifico
methyltetrahydrofolate reductase (MTHFR), methionine synthetase reductase (MTRR), Down syndrome, maternal polymorphisms
English
636.e1
636.e6
Pozzi, E., Vergani, P., Dalpra', L., Combi, R., Silvestri, D., Crosti, F., et al. (2009). Maternal polymorphisms for methyltetrahydrofolate reductase and methionine synthetase reductase and risk of children with Down syndrome. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 200, 636.e1-636.e6 [10.1016/j.ajog.2008.12.046].
Pozzi, E; Vergani, P; Dalpra', L; Combi, R; Silvestri, D; Crosti, F; Dell’Orto, M; Valsecchi, M
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/5416
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