|
rs1448674651
|
TYMS;ENOSF1
|
Acute lymphocytic leukemia
|
|
0.030 |
GeneticVariation |
BEFREE |
SLC19A1 80G > A emerged as the predominant polymorphism associated with risk of ALL.
|
20824655 |
2011 |
|
rs1448674651
|
TYMS;ENOSF1
|
Acute lymphocytic leukemia
|
|
0.030 |
GeneticVariation |
BEFREE |
For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility.
|
19020309 |
2009 |
|
rs1448674651
|
TYMS;ENOSF1
|
Acute lymphocytic leukemia
|
|
0.030 |
GeneticVariation |
BEFREE |
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.
|
22838948 |
2012 |
|
rs2790
|
TYMS;ENOSF1
|
Acute lymphocytic leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
The Sequenom MassARRAY system was used for TYMS rs2790 A > G genotyping in 118 children with ALL.
|
29500934 |
2018 |
|
rs1448674651
|
TYMS;ENOSF1
|
Adult Acute Lymphocytic Leukemia
|
|
0.020 |
GeneticVariation |
BEFREE |
For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility.
|
19020309 |
2009 |
|
rs1448674651
|
TYMS;ENOSF1
|
Adult Acute Lymphocytic Leukemia
|
|
0.020 |
GeneticVariation |
BEFREE |
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.
|
22838948 |
2012 |
|
rs1448674651
|
TYMS;ENOSF1
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation |
BEFREE |
Low dietary folate intake (P < 0.001), RFC1 G80A (OR: 1.38, 95% CI 1.06-1.81) and MTHFR C677T (OR: 1.74 (1.11-2.73) were independently associated with the breast cancer risk whereas cSHMT C1420T conferred protection (OR: 0.72, 95% CI 0.55-0.94).
|
21161404 |
2011 |
|
rs1448674651
|
TYMS;ENOSF1
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation |
BEFREE |
Conversely, for women over 50, the risk of breast cancer development was statistically associated with the MTHFR 677CT genotype, but especially significant was risk associated with the presence of the polymorphic allele of cSHMT C1420T (P = 0.0120) and the protective effect associated with the RFC1 G80A polymorphism allele (P = 0.0021), was restrict to this age group.
|
22134752 |
2012 |
|
rs1448674651
|
TYMS;ENOSF1
|
Breast Carcinoma
|
|
0.030 |
GeneticVariation |
BEFREE |
Cross-talk was observed between one-carbon and xenobiotic pathways in breast cancer (RFC 80 G>A, COMT H108L and TYMS 5'-UTR 28 bp tandem repeat) and SLE (CYP1A1 m1, MTRR 66 A>G and GSTT1).
|
25648260 |
2015 |
|
rs1448674651
|
TYMS;ENOSF1
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children.
|
24771227 |
2014 |
|
rs1448674651
|
TYMS;ENOSF1
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.020 |
GeneticVariation |
BEFREE |
For the first time, we associate the RFC1 80G>A and NNMT IVS -151C>T variants to an increased ALL susceptibility.
|
19020309 |
2009 |
|
rs1448674651
|
TYMS;ENOSF1
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.020 |
GeneticVariation |
BEFREE |
Children with ALL (n = 96) were screened for GCPII C1561T, RFC1 G80A, cSHMT C1420T, TYMS 5´-UTR 2R3R, TYMS 3´-UTR ins6/del6, MTHFR C677T, MTR A2756G polymorphisms using PCR-RFLP and PCR-amplified fragment length polymorphism techniques.
|
22838948 |
2012 |
|
rs2853542
|
TYMS;TYMSOS
|
Childhood Acute Lymphoblastic Leukemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the presence of a 28-base pair tandem repeat (rs34743033; 2R3R), a single nucleotide polymorphism present within the 28-base pair repeat on the 3R allele (rs2853542; 3RG>C) and a 6-base pair deletion (rs15126436; TTAAAG) within the TYMS gene in germline DNA of 117 pediatric patients with ALL.
|
30222710 |
2018 |
|
rs1448674651
|
TYMS;ENOSF1
|
Childhood Neuroblastoma
|
|
0.010 |
GeneticVariation |
BEFREE |
The aim of this study was to investigate whether the genetic polymorphisms MTHFR C677T and A1298C, MTR A2756G, TYMS 2R/3R and SLC19A1 G80A, involved in folate metabolism, increase the risk of neuroblastoma in Brazilian children.
|
24771227 |
2014 |
|
rs1448674651
|
TYMS;ENOSF1
|
Colon Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Neither MTR D919G nor RFC 80G>A polymorphisms were associated with altered colon cancer risk.
|
16284371 |
2005 |
|
rs2853533
|
TYMS;TYMSOS
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Using a dominant model for the variant allele, several SNPs were significantly associated with CRC including MTHFD1 rs8003379 (OR = 1.65; 95% CI = 1.00-2.73) and rs17824591 (OR = 1.98; 95% CI = 1.14-3.41) and the TYMS rs2853533 SNP (OR = 1.38; 95% CI = 1.05-1.80).
|
23893618 |
2013 |
|
rs34743033
|
TYMS;TYMSOS
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
Results for other variants varied across individual studies; in our meta-analyses we observed some evidence for SHMT 1420C>T (rs1979277) ((odds ratio) OR = 0.85; 95% confidence interval (CI) = 0.73-1.00 for TT v. CC) and TYMS 5' 28 bp repeat (rs34743033) and CRC risk (OR = 0.84; 95% CI = 0.75-0.94 for 2R/3R v. 3R/3R and OR = 0.82; 95% CI = 0.69-0.98 for 2R/2R v. 3R/3R).
|
23401104 |
2013 |
|
rs750248338
|
TYMS;ENOSF1
|
Colorectal Carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
XRCC3 Thr241Met and TYMS variable number tandem repeat polymorphisms are associated with time-to-metastasis in colorectal cancer.
|
29394274 |
2018 |
|
rs1448674651
|
TYMS;ENOSF1
|
Complete Trisomy 21 Syndrome
|
|
0.010 |
GeneticVariation |
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 |
|
rs1448674651
|
TYMS;ENOSF1
|
Coronary Artery Disease
|
|
0.020 |
GeneticVariation |
BEFREE |
Gene-gene interactions within one-carbon metabolic pathway were observed in CAD (GCPII 1561 C>T, SHMT 1420 C>T and MTHFR 677 C>T) and PD (cSHMT 1420 C>T, MTRR 66 A>G and RFC1 80 G>A).
|
25648260 |
2015 |
|
rs1448674651
|
TYMS;ENOSF1
|
Coronary Artery Disease
|
|
0.020 |
GeneticVariation |
BEFREE |
In view of growing body of evidence favouring the association of aberrations in one-carbon metabolism and oxidative stress in the aetiology of coronary artery disease (CAD), we investigated the risk associated with polymorphisms regulating the folate uptake and transport such as the glutamate carboxypeptidase II (GCPII) C1561T, reduced folate carrier 1 (RFC1) G80A and cytosolic serine hydroxymethyltransferase (cSHMT) C1420T.
|
22147344 |
2013 |
|
rs1448674651
|
TYMS;ENOSF1
|
Coronary heart disease
|
|
0.010 |
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 |
|
rs1448674651
|
TYMS;ENOSF1
|
Diarrhea
|
|
0.010 |
GeneticVariation |
BEFREE |
The Ala allele in OPRT Gly213Ala polymorphism and the two tandem repeats (2R) in TYMS promoter polymorphism were associated with grade 3 to 4 neutropenia and diarrhea.
|
16818689 |
2006 |
|
rs1448674651
|
TYMS;ENOSF1
|
Down Syndrome
|
|
0.010 |
GeneticVariation |
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 |
|
rs3891167
|
TYMS;TYMSOS
|
Finding of Mean Corpuscular Hemoglobin
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |