scholarly journals Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome

1999 ◽  
Vol 70 (4) ◽  
pp. 495-501 ◽  
Author(s):  
S Jill James ◽  
Marta Pogribna ◽  
Igor P Pogribny ◽  
Stepan Melnyk ◽  
R Jean Hine ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Folate Metabolism ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Reductase Gene ◽  
Methylenetetrahydrofolate Reductase Gene

scholarly journals Polymorphisms in Genes Involved in Folate Metabolism as Maternal Risk Factors for Down Syndrome

2000 ◽  
Vol 67 (3) ◽  
pp. 623-630 ◽  
Author(s):  
Charlotte A. Hobbs ◽  
Stephanie L. Sherman ◽  
Ping Yi ◽  
Sarah E. Hopkins ◽  
Claudine P. Torfs ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Folate Metabolism ◽  
Maternal Risk Factors ◽  
Maternal Risk

Methylenetetrahydrofolate Reductase Polymorphisms C677T and A1298C as Maternal Risk Factors for Down Syndrome in Jordan

2011 ◽  
Vol 15 (1-2) ◽  
pp. 51-57 ◽  
Author(s):  
May F. Sadiq ◽  
Ekhlas A. Al-Refai ◽  
Amjad Al-Nasser ◽  
Mohammad Khassawneh ◽  
Qasem Al-Batayneh
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Methylenetetrahydrofolate Reductase ◽  
Maternal Risk Factors ◽  
Maternal Risk

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico

2019 ◽  
Author(s):  
Jorge Román Corona‐Rivera ◽  
Rafael Nieto‐García ◽  
Andrea S. Gutiérrez‐Chávez ◽  
Lucina Bobadilla‐Morales ◽  
Izabel M. Rios‐Flores ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Western Mexico

Abnormal folic acid-homocysteine metabolism as maternal risk factors for Down syndrome in Japan

2004 ◽  
Vol 43 (5) ◽  
pp. 285-287 ◽  
Author(s):  
Noboru Takamura ◽  
Tatsuro Kondoh ◽  
Syohei Ohgi ◽  
Kokichi Arisawa ◽  
Mariko Mine ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Folic Acid ◽  
Maternal Risk Factors ◽  
Maternal Risk

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

2017 ◽  
Vol 25 (1) ◽  
pp. 27-35
Author(s):  
Simona Bucerzan ◽  
Radu Anghel Popp ◽  
Raluca Maria Vlad ◽  
Cecilia Lazea ◽  
Radu Nicolaescu ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Methylenetetrahydrofolate Reductase ◽  
Mthfr Gene ◽  
Control Group ◽  
Healthy Children ◽  
Mthfr Polymorphisms ◽  
Maternal Risk ◽  
Reductase Gene ◽  
A1298c Polymorphism ◽  
Methylenetetrahydrofolate Reductase Gene

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.

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