|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.
|
19729796 |
2009 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
0.400 |
Biomarker
|
disease |
CTD_human |
Re: folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women.
|
17431899 |
2007 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
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 |
|
Down Syndrome
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
Increased expression of human reduced folate carrier in fetal Down syndrome brain.
|
15068242 |
2003 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
Biomarker
|
disease |
BEFREE |
To analyze influence of variants in TYMS, MTHFR, SLC19A1 and DHFR genes on 6-mercaptopurine (MP) induced toxicity during maintenance phase of treatment for childhood acute lymphocytic leukemia (ALL).
|
31786878 |
2020 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Genotyping for SLC19A1 rs1051296 G>T in 131 children with ALL was performed using the Sequenom MassArray system.
|
24927955 |
2014 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
There was evidence that the minor alleles of NOS3 rs3918186 (OR = 2.16; 95% CI: 1.51-3.15) and SLC19A1 rs1051266 (OR = 2.07; 95% CI: 1.25-3.46) were positively associated with childhood ALL.
|
24367687 |
2013 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
The combination of SLC19A1 80GA heterozygosity and 3'-TYMS -6bp/-6bp homozygous deletion is associated with reduced ALL risk in Malay boys.
|
19651439 |
2010 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Sixteen single nucleotide polymorphisms (SNPs) (CYP3A4*1B A>G, CYP3A5*3 G>A, GSTP1 313 A>G, GSTM1 deletion, GSTT1 deletion, MDR1 exon 21 G>T/A, MDR1 exon 26 C>T, MTHFR 677 C>T, MTHFR 1298 A>C, NR3C1 1088 A>G, RFC 80 G>A, TPMT 238 G>C, TPMT 460 G>A, TPMT 719 A>G, VDR intron 8 G>A, VDR FokI T>C) that have been implicated in the pharmacogenetics of ALL therapy were analyzed by TotalPlex amplification and SNP genotyping.
|
18385010 |
2008 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
Biomarker
|
disease |
CTD_human |
Our results strongly suggest the prognostic importance of hRFC gene expression to treatment outcomes in pediatric ALL.
|
17255265 |
2007 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
Biomarker
|
disease |
BEFREE |
We found significantly lower expression of the reduced folate carrier (SLC19A1, an MTX uptake transporter) in E2A-PBX1 ALL, significantly higher expression of breast cancer resistance protein (ABCG2, an MTX efflux transporter) in TEL-AML1 ALL, and lower expression of FPGS (which catalyzes formation of MTXPG) in T-lineage ALL, consistent with lower MTXPG accumulation in these ALL subtypes.
|
15630450 |
2005 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
We have identified an hRFC gene point mutation in a transport-defective CCRF-CEM human T-ALL cell line resulting in a lysine to glutamic acid substitution at codon 45 (E45K), which has been identified in other antifolate-resistant sublines (JBC 273:30 189, 1998; JBC 275:30 855, 2000).
|
12454742 |
2002 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.380 |
AlteredExpression
|
disease |
BEFREE |
Our results suggest that RFC gene expression is far more predictive of methotrexate uptake capacity in B-precursor than T-ALL and that increased copies of chromosome 21 in B-precursor ALL blasts are generally associated with increased RFC transcripts.
|
9748136 |
1998 |
|
Colorectal Carcinoma
|
0.350 |
AlteredExpression
|
disease |
BEFREE |
There was a pronounced expression of the FRα and RFC proteins in both the CRC and ANCM tissues, though the expression was attenuated in cancer compared to the paired ANCM tissues.
|
25697897 |
2015 |
|
Colorectal Carcinoma
|
0.350 |
Biomarker
|
disease |
BEFREE |
We conclude that SLC46A1/PCFT and SLC19A1/RFC-1 are associated with DFS of patients with colorectal cancer and hypothesize that poor response to 5-fluorouracil plus leucovorin therapy in some patients may be linked to low expression of these genes.
|
26193446 |
2015 |