No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers

@article{Chango2005NoAB,
  title={No association between common polymorphisms in genes of folate and homocysteine metabolism and the risk of Down's syndrome among French mothers},
  author={Abalo Chango and Nathalie Fillon-Emery and Clotilde Mircher and Henri Bl{\'e}haut and Daniel Lambert and Bernard Herbeth and S. Jill James and M. O. Rethor{\'e} and Jean Pierre Nicolas},
  journal={British Journal of Nutrition},
  year={2005},
  volume={94},
  pages={166 - 169}
}
The cause of the non-disjunction leading to trisomy 21 remains unclear. Recent evidence has suggested that 5, 10-methylenetetrahydrofolate reductase (MTHFR) and/or methionine synthase reductase (MTRR) might contribute to the maternal risk of trisomy 21. The purpose of the present study was to analyse these findings among the French population and to investigate whether common polymorphisms in genes of the folate and homocysteine pathway, including the MTHFR 677C>T, MTHFR 1298A>C, the methionine… 
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Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis.
TLDR
A meta-analysis of case-control studies on the relationship between maternal gene polymorphisms involved in folate metabolism and the risk of having a DS offspring found marginal significant associations for MTHFR C677T and RFC1 A80G and MTRR A66G showed non-significant results.
Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil.
TLDR
Elevated maternal risk for DS was also observed when plasma Hcy concentration was higher than 4.99 micromol/L, and the presence of three or more polymorphic alleles for MTHFR C677T, MTH FR A1298C, MTR A2756G, and RFC1 A80G are maternal risk factors for DS.
The impact of Folate Pathway Polymorphisms Combined to Nutritional Deficiency As a Maternal Predisposition Factor for Down Syndrome
TLDR
It is suggested that such interaction between genetic profile and environment could predispose this sub group of women to have a DS child, and the possibility of neutralize the biochemical negative effects of folate-related polymorphisms through oral supplementation could provide new targets for DS prevention.
[Folate gene polymorphism and the risk of Down syndrome pregnancies in young Chinese women].
TLDR
MTHFR 677C>T and M TRR 66A>G polymorphisms are two independent risk factors for DS pregnancies in young women, but RFC-1 80G>A and MTR 2756A> G polymorphism are not independent risk factor.
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome — meta-analysis
TLDR
A meta-analysis of case-control studies showed the significance of genetic alterations in the folate metabolism genes in maternal susceptibility to DS offspring and suggested the importance of folate supplementation to women in reproductive age in prevention of non-disjunction be revised.
Maternal MTHFR polymorphism (677 C–T) and risk of Down’s syndrome child: meta-analysis
TLDR
A meta-analysis to establish link between maternal single-nucleotide polymorphism (SNP) and birth of Down’s syndrome (DS) child suggested that MTHFR 677 C–T is a major risk factor for DS birth.
Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring
TLDR
Increased risk of Down syndrome was associated with the methylenetetrahydrofolate reductase (MTHFR) 1298C allele and the RFC 180G alleles, suggesting a role of maternal polymorphisms of homocysteine/folate pathway as risk factors for Down syndrome.
MTHFR Gene variants C677T, A1298C and association with Down syndrome: A Case-control study from South India
TLDR
This first report on MTH FR C677T and A1298C polymorphisms in trisomy 21 parents from south Indian population revealed that MTHFR 677CT polymorphism was associated with a risk for Down syndrome.
Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women
TLDR
Results seem to indicate that none of the RFC‐1 80G>A, MTHFR 677C>T, and MTHfr 1298A>C polymorphisms is an independent risk factor for a DS offspring at a young maternal age; however, a role for the combined MTH FR/RFC‐1 genotypes in the risk of DS pregnancies among young Italian women cannot be excluded.
Folate metabolism gene polymorphisms and risk for down syndrome offspring in Turkish women.
TLDR
Six common polymorphisms in folate-metabolizing genes were analayzed to determine possible risk factors for a child to be born having DS mothers, with the frequency of the MTHFR 677C allele in DS mothers significantly higher than in controls.
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References

SHOWING 1-10 OF 48 REFERENCES
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil
TLDR
Although the 677T allele is associated with increased homocysteine levels, its presence has only a modest impact as an independent risk factor for DS, the mothers of children with DS tend to have a higher number of uncommon alleles than the mothers with no previous affected child.
Genetic Determinants of Folate and Vitamin B12 Metabolism: A Common Pathway in Neural Tube Defect and Down Syndrome?
TLDR
NTD and DS are influenced by the same genetic determinants of onecarbon metabolism, with distinct data produced in different geographical areas explained by differences in the nutritional environment and genetic characteristics of the populations.
Gene polymorphism and folate metabolism: a maternal risk factor for Down syndrome.
TLDR
There seems to be a geographic variation in gene polymorphism and it could not be attributable to meiotic nondisjunction in all mothers with DS child but increased homocysteine in all different study group does suggest that there may be a gene-nutritional or gene-gene or gene -nutritional-environmental factors involved in increased frequency of meiotic nonsjunction which needs transnational and multinational study design.
Methionine synthase (MTR) 2756 (A → G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome
TLDR
Results provide evidences that homocysteine and MTR genetic polymorphism are two potent risk factors for mothers to have a DS child in Sicily.
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome.
TLDR
The results are consistent with the preliminary observation that the MTHFR 677C-->T polymorphism is more prevalent among mothers of children with Down syndrome than among control mothers, and the two polymorphisms appear to act without a multiplicative interaction.
A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida.
TLDR
This study provides the first genetic link between vitamin B(12) deficiency and NTDs and supports the multifactorial origins of these common birth defects.
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.
TLDR
It is proposed that the genetic-nutrient interaction--MTHFR polymorphism and low folate status--is associated with a greater risk for NTDs than either variable alone.
MTRR and MTHFR polymorphism: link to Down syndrome?
TLDR
MTRR A66G is significantly more common in mothers of children with Down syndrome but does not appear to increase the risk for Down syndrome by changing homocysteine metabolism.
Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for down syndrome among Turkish women
TLDR
The data presented in this study fail to support the relationship between MTHFR 677C > T and 1298A  C polymorphisms and risk of having a child with DS.
A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia.
TLDR
A moderate, but significant, increase in total homocysteine levels in doubly homozygous 80GG/677TT subjects is found and individuals who were 80AA/677CT had higher plasma folate levels than those who are 80GG or677CT.
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