RRML - Evaluation of C677T and A1298C polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)
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Nr. 25(1)/2017 DOI:10.1515/rrlm-2017-0003
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Research article

Evaluation of C677T and A1298C polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Polimorfismul C677T si A1298C al genei MTHFR ca factor de risc matern pentru trisomia 21 (studiu monocentric)

Simona Bucerzan, Radu Anghel Popp, Raluca Maria Vlad, Cecilia Lazea, Radu Nicolaescu, Paula Grigorescu-Sido

Correspondence should be addressed to: Cecilia Lazea

Abstract

Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers. Methods: For 93 mothers who have children with trisomy 21 and 202 mothers of healthy children (control group), genotyping of MTHFR polymorphisms C677T and A1298C was performed. Results: For each polymorphism, three genotypes were identified (normal homozygous, heterozygous and mutant homozygous). For the polymorphism C677T, the frequencies of the three genotypes (CC, CT and TT) were 50.5%, 40.8% and 8.6% in mothers of children with trisomy 21, versus 42.6%, 46% and 11.4% in mothers of healthy children, with no statistically significant differences. The frequency of the polymorphism A1298C was not statistically significant between the two groups for the genotype (AA) (48.4% vs 56.4%) or the genotype (AC) (39.8% vs 38.6%), but the genotype TT was more frequent in mothers of children with trisomy 21 (11.8% vs 4.9%; p = 0.033; OR = 2.57). Conclusion: Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.

Keywords: MTHFR gene, polymorphism, Down syndrome

Received: 12.10.2016
Accepted: 14.12.2016
Published: 19.1.2017

 
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How to cite
Bucerzan S, Popp RA, Vlad RM, Lazea C, Nicolaescu R, Grigorescu-Sido P. Evaluation of C677T and A1298C polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study). Rev Romana Med Lab. 2017;25(1):27-35. DOI:10.1515/rrlm-2017-0003