RFC1, replication factor C subunit 1, 5981

N. diseases: 144; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease 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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE The combined presence of RFC1 mutant alleles and the CBS homozygous mutant allele (15/104) was associated with a 4.81-fold increased risk of having a child with Down syndrome (95 % CI 1.82-12.68, P = 0.0007). 23430030 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE This study aimed to analyze a dataset of genetic and cytogenetic data in an Italian group of MDS and mothers of healthy children (control mothers) to assess the predictive capacity of artificial neural networks assembled in TWIST system in distinguish consistently these two different conditions and to identify the variables expressing the maximal amount of relevant information to the condition of being mother of a DS child.The dataset consisted of the following variables: the frequency of chromosome damage in peripheral lymphocytes (BNMN frequency) and the genotype for 7 common polymorphisms in folate metabolic genes (MTHFR 677C>T and 1298A>C, MTRR 66A>G, MTR 2756A>G, RFC1 80G>A and TYMS 28bp repeats and 1494 6bp deletion). 20868477 2010
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome. 19729796 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease LHGDN Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil. 18273817 2008
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 GeneticVariation disease BEFREE Increased risk of Down syndrome was associated with the methylenetetrahydrofolate reductase (MTHFR) 1298C allele (OR 1.46; 95% CI 1.02-2.10), the MTHFR 1298CC genotype (OR 2.29; 95% CI 1.06-4.96), the reduced-folate-carrier1 (RFC1) 80G allele (1.48; 95% CI 1.05-2.10) and the RFC1 80 GG genotype (OR 2.05; 95% CI 1.03-4.07). 16845273 2006
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 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
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.100 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