Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

2005 ◽  
Vol 135A (3) ◽  
pp. 263-267 ◽  
Author(s):  
Luciana Rodrigues Jacy da Silva ◽  
Naja Vergani ◽  
Luciano de Camargo Galdieri ◽  
Marianna Picarelli Ribeiro Porto ◽  
Silvia Bragagnolo Longhitano ◽  
...  
Keyword(s):  
Down Syndrome ◽  
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 DNMT3B promoter polymorphisms and maternal risk of birth of a child with Down syndrome

2012 ◽  
Vol 28 (2) ◽  
pp. 545-550 ◽  
Author(s):  
Fabio Coppedè ◽  
Paolo Bosco ◽  
Pierpaola Tannorella ◽  
Carmelo Romano ◽  
Ivana Antonucci ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Promoter Polymorphisms ◽  
Maternal Risk

Polymorphisms in genes RFC-1/CBS as maternal risk factors for Down syndrome in China

2013 ◽  
Vol 288 (2) ◽  
pp. 273-277 ◽  
Author(s):  
Shao-shuai Wang ◽  
Chao Wang ◽  
Fu-yuan Qiao ◽  
Juan-juan Lv ◽  
Ling Feng
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Maternal Risk Factors ◽  
Maternal Risk

scholarly journals MTHFR Genetic Polymorphism As a Risk Factor in Egyptian Mothers with Down Syndrome Children

2008 ◽  
Vol 24 (1) ◽  
pp. 19-26 ◽  
Author(s):  
Nagwa A. Meguid ◽  
Ahmed A. Dardir ◽  
Mohamed Khass ◽  
Lamia El Hossieny ◽  
Afaf Ezzat ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Odds Ratio ◽  
Methylenetetrahydrofolate Reductase ◽  
Folate Intake ◽  
Maternal Risk ◽  
Genotype Frequencies ◽  
Homozygous Genotype ◽  
Significant Difference ◽  
Genetic Impact ◽  
Normal Offspring

Recent reports linking Down syndrome (DS) to maternal polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) gene locus have generated great interest among investigators in the field. The present study aimed at evaluation ofMTHFR677C/T and 1298A/C polymorphisms in theMTHFRgene as maternal risk factors for DS. Forty two mothers of proven DS outcomes and forty eight control mothers with normal offspring were included. Complete medical and nutritional histories for all mothers were taken with special emphasis on folate intake. Folic acid intake from food or vitamin supplements was significantly low (below the Recommended Daily Allowance) in the group of case mothers compared to control mothers. Frequencies ofMTHFR677T andMTHFR1298C alleles were significantly higher among case mothers (32.1% and 57.1%, respectively) compared to control mothers (18.7% and 32.3%, respectively). Heterozygous and homozygous genotype frequencies ofMTHFRat position 677 (CT and TT) were higher among case mothers than controls (40.5% versus 25% and 11.9% versus 6.2%, respectively) with an odds ratio of 2.34 (95% confidence interval [CI] 0.93–5.89) and 2.75 (95% CI 0.95–12.77), respectively. Interestingly, the homozygous genotype frequency (CC) at position 1298 was significantly higher in case mothers than in controls (33.3% versus 2.1% respectively) with an odds ratio of 31.5 (95% CI 3.51 to 282.33) indicating that this polymorphism may have more genetic impact than 677 polymorphism. Heterozygous genotype (AC) did not show significant difference between the two groups. We here report on the first pilot study of the possible genetic association between DS andMTHFR1298A/C genotypes among Egyptians. Further extended studies are recommended to confirm the present work.

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