Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease 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
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease 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
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE Present results suggest that the maternal RFC-1 80A>G polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype. 23857226 2013
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE In a group of 121 case families (mother, father, and proband with DS and AVSD) and 122 control families (mother, father, and proband with DS and no CHD), tag SNPs were genotyped in and around five folate pathway genes: 5,10-methylenetetrahyrdofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystathionine beta-synthase (CBS), and the reduced folate carrier (SLC19A1, RFC1). 20718043 2010
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE The results show that individual polymorphisms studied in this work are not associated with DS; however, the effects of the combined risk genotypes among MTR, MTRR, CBS and RFC genes are considered maternal risk factors for DS offspring in our population. 21045269 2010
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. 19729796 2009
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. 18273817 2008
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE There was no evidence of any association between the RFC1 A80G and TC2 C776G polymorphisms and the maternal risk of DS in the sample evaluated. 19274320 2008
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE The aim of the present study was to evaluate chromosome damage, measured by means of the micronucleus assay, in peripheral lymphocytes of a group of women (n = 34) who had a DS child in young age (<35 years) and in a control group (n = 35), and to correlate them with MTHFR 677C > T and 1298A > C, RFC-1 80G > A and MTR 2756A > G polymorphisms. 17702010 2007
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 Biomarker disease CTD_human Re: folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women. 17431899 2007
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease BEFREE Present 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 MTHFR/RFC-1 genotypes in the risk of DS pregnancies among young Italian women cannot be excluded. 16596679 2006
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 Biomarker disease CTD_human Analysis of seven maternal polymorphisms of genes involved in homocysteine/folate metabolism and risk of Down syndrome offspring. 16845273 2006
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 GeneticVariation disease 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
Entrez Id: 6573
Gene Symbol: SLC19A1
SLC19A1
0.400 AlteredExpression disease LHGDN Increased expression of human reduced folate carrier in fetal Down syndrome brain. 15068242 2003