scholarly journals Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis

2007 ◽  
Vol 52 (11) ◽  
pp. 943-953 ◽  
Author(s):  
Elias Zintzaras
Mutagenesis ◽  
2013 ◽  
Vol 28 (6) ◽  
pp. 661-671 ◽  
Author(s):  
M. Yang ◽  
T. Gong ◽  
X. Lin ◽  
L. Qi ◽  
Y. Guo ◽  
...  

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P120
Author(s):  
Sushil Kumar Jaiswal ◽  
Ashok Kumar ◽  
Vineeta Gupta ◽  
Anjali Rani ◽  
Amit Kumar Rai

Open Medicine ◽  
2009 ◽  
Vol 4 (4) ◽  
pp. 395-408 ◽  
Author(s):  
Igor Medica ◽  
Ales Maver ◽  
Goncalo Augusto ◽  
Borut Peterlin

AbstractFolate metabolism deficiency has been related to increased occurrence of maternal non-disjunction resulting in trisomy 21. Several polymorphisms in genes coding for folate metabolism enzymes have been investigated for association with the maternal risk of Down syndrome (DS) yielding variable results. We performed a meta-analysis of case-control studies obtained through the PubMed database. The studies on polymorphisms in the MTHFR, MTRR, MTR, RFC1 and CBS genes were included. The summary OR demonstrated a statistically significant increased risk of giving birth to a child with DS in mothers carrying the mutant allele of the MTHFR/C677T gene polymorphism (both genetic models) and in mothers homozygous for the mutant allele of the MTRR/A66G polymorphism (recessive genetic model). Analyses of other polymorphisms, MTHFR/A1298C, MTR/A2756G, RFC1/A80G, and CBS/844ins68, resulted in borderline or no statistical significance. In conclusion, our meta-analysis showed the significance of genetic alterations in the folate metabolism genes in maternal susceptibility to DS offspring. Our results suggest that the importance of folate supplementation to women in reproductive age in prevention of non-disjunction be revised. Further genetic studies on a combined effect of multiple folate metabolism genes is recommended. Additionally, more thorough studies on the haplotype analyses of genes is recommended as well, especially in populations that have not yet been investigated thus far.


2015 ◽  
Vol 32 (5) ◽  
pp. 797-805 ◽  
Author(s):  
Xiaoming Wu ◽  
Kunxian Yang ◽  
Xiaodan Tang ◽  
Yalian Sa ◽  
Ruoyu Zhou ◽  
...  

2015 ◽  
Vol 19 (4) ◽  
pp. 191-197 ◽  
Author(s):  
Ozlem Izci Ay ◽  
Mustafa Ertan Ay ◽  
Mehmet Emin Erdal ◽  
Filiz Cayan ◽  
Sevinc Tekin ◽  
...  

2014 ◽  
Vol 2014 ◽  
pp. 1-12 ◽  
Author(s):  
Daniella Balduino Victorino ◽  
Moacir Fernandes de Godoy ◽  
Eny Maria Goloni-Bertollo ◽  
Érika Cristina Pavarino

Inconclusive results of the association between genetic polymorphisms involved in folate metabolism and maternal risk for Down syndrome (DS) have been reported. Therefore, this meta-analysis was conducted. We searched electronic databases through May, 2014, for eligible studies. Pooled odds ratios with 95% confidence intervals were used to assess the strength of the association, which was estimated by fixed or random effects models. Heterogeneity among studies was evaluated usingQ-test andI2statistic. Subgroup and sensitivity analyses were also conducted. Publication bias was estimated using Begg’s and Egger’s tests. A total of 17 case-controls studies were included. There was evidence for an association between theMTRRc.66A>G (rs1801394) polymorphism and maternal risk for DS. In the subgroup analysis, increased maternal risk for DS was found in Caucasians. Additionally, the polymorphic heterozygoteMTHFD11958GA genotype was associated significantly with maternal risk for DS, when we limit the analysis by studies conformed to Hardy-Weinberg equilibrium. Finally, consideringMTRc.2756A>G (rs1805087),TC2c.776C>G (rs1801198), andCBSc.844ins68, no significant associations have been found, neither in the overall analyses nor in the stratified analyses by ethnicity. In conclusion, our meta-analysis suggested that theMTRRc.66A>G (rs1801394) polymorphism andMTHFD1c.1958G>A (rs2236225) were associated with increased maternal risk for DS.


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