|
Down Syndrome
|
|
0.050 |
GeneticVariation
|
BEFREE |
However, the binary logistic regression showed a higher frequency of the polymorphic homozygote genotype in DS parent group to codominant and dominant model in the RFC1 A80G.
|
29130768 |
2017 |
|
Down Syndrome
|
|
0.050 |
GeneticVariation
|
BEFREE |
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring.
|
24068460 |
2013 |
|
Down Syndrome
|
|
0.050 |
GeneticVariation
|
BEFREE |
We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China.
|
23430030 |
2013 |
|
Down Syndrome
|
|
0.050 |
GeneticVariation
|
BEFREE |
This study aimed to investigate the role of maternal polymorphisms, as well as their risk genotypes combinations of MTR A2756G, MTRR A66G, CBS 844ins68, and RFC A80G, involved in folate/homocysteine metabolism, as possible risk factors for Down syndrome (DS) in Southern Brazil.
|
21045269 |
2010 |
|
Down Syndrome
|
|
0.050 |
GeneticVariation
|
BEFREE |
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 synthase (MTR) 2756A > G, the cystathionine beta-synthase (CBS) 844Ins68 and the reduced folate carrier (RFC-1) 80G > A polymorphisms, contribute to the risk of trisomy 21.
|
16115349 |
2005 |
|
Complete Trisomy 21 Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
However, the binary logistic regression showed a higher frequency of the polymorphic homozygote genotype in DS parent group to codominant and dominant model in the RFC1 A80G.
|
29130768 |
2017 |
|
Complete Trisomy 21 Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China.
|
23430030 |
2013 |
|
Complete Trisomy 21 Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring.
|
24068460 |
2013 |
|
Complete Trisomy 21 Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
This study aimed to investigate the role of maternal polymorphisms, as well as their risk genotypes combinations of MTR A2756G, MTRR A66G, CBS 844ins68, and RFC A80G, involved in folate/homocysteine metabolism, as possible risk factors for Down syndrome (DS) in Southern Brazil.
|
21045269 |
2010 |
|
Coronary heart disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Compound mutants for (MTHFD-G1958A, MTHFR-C677T and MTR-A2756G) and (MTHFD-G1958A, RFC1-G80A and MTR-A2756G) may increase the risk of CHD.
|
23701284 |
2013 |
|
Coronary heart disease
|
|
0.020 |
GeneticVariation
|
BEFREE |
Interestingly, all marginally significant SNPs in SLC19A1 are in strong linkage disequilibrium (r(2)> or = 0.8) with the nonsynonymous coding SNP rs1051266 (c.80A>G), which has previously been associated with nonsyndromic cases of CHD.
|
20718043 |
2010 |