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)

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