<abstract xmlns="http://www.w3.org/1999/xhtml"><bold>Aim:</bold> To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.<bold>Methods:</bold> 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.<bold>Results:</bold> 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).<bold>Conclusion:</bold> Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.</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.

Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

University of Medicine and Pharmacy „Iuliu Hațieganu”, Centre of Genetic Diseases, Emergency Pediatric Hospital, Cluj-Napoca,

University of Medicine and Pharmacy „Iuliu Hațieganu”, Medical Genetics Department, Emergency Pediatric Hospital, Cluj-Napoca,

Carol Davila University of Medicine and Pharmacy, Department of Pediatrics, Grigore Alexandrescu Emergency Pediatric Hospital, Bucharest,

Radiology and Medical Imaging Laboratory, Fundeni Clinical Institute, Bucharest,

Revista Romana de Medicina de Laborator

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in...

Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Published Online: Feb 18, 2017

Page range: 27 - 35

Received: Oct 12, 2016

Accepted: Dec 14, 2016

DOI: https://doi.org/10.1515/rrlm-2017-0003

Keywords
MTHFR gene, polymorphism, Down syndrome

© 2017 Simona Bucerzan et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Evaluation of c677t and a1298c polymorphism of the methylenetetrahydrofolate reductase gene as a maternal risk factor for trisomy 21 (a monocentric study)

Published Online: Feb 18, 2017

Page range: 27 - 35

Received: Oct 12, 2016

Accepted: Dec 14, 2016

DOI: https://doi.org/10.1515/rrlm-2017-0003

KeywordsMTHFR gene, polymorphism, Down syndrome

© 2017 Simona Bucerzan et al., published by De Gruyter Open

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
MTHFR gene, polymorphism, Down syndrome