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

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English

Journal Metrics

Impact Factor 0.5
Five Year Impact Factor 0.5
JCI 0.12

Advanced search

Top 10 downloaded articles
- November 2024 -
 
Towards appropriate training f... 31
Recomandările naționale ale ... 28
Biomarkers of acute kidney inj... 23
A comprehensive review of glyc... 20
Agreement between different eG... 19
Investigation of cytokine chan... 19
Expressions of vascular endoth... 17
Role of Th1/Th2 imbalance medi... 16
Small patients, big challenges... 9
The frequency of EGFR gene mut... 8

Log in

Concept, Design & Programming
Dr. Adrian Man
   
 
Nr. 25(1)/2017 DOI:10.1515/rrlm-2017-0003
XML
TXT

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

 
  PDF Download full text PDF
(364 KB)
     
 
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