MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE However, in individuals with the lowest plasma folate concentrations, the MTHFR 677TT genotype showed a statistically nonsignificant increased CRC risk [RR (95% CI; Ptrend) TT versus CC=1.39 (0.87-2.21); 0.12], whereas those with the highest folate concentrations showed a nonsignificant decreased CRC risk [RR TT versus CC=0.74 (0.39-1.37); 0.34]. 20447924 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE MTHFR A1298C polymorphism is not associated with CRC risk. 19669769 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We also observed no significant interactions between the MTHFR C677T polymorphism and smoking or drinking in the risk of gastric and colorectal cancer. 20504332 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The MTHFR C677T and DeltaDNMT3B C-149T polymorphisms confer different risks for right- and left-sided colorectal cancer. 19326430 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The results obtained support the hypothesis of an increased colorectal cancer prevalence in patients with one of the MTHFR gene mutations. 17925917 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The inverse association of methionine with colorectal cancer risk was slightly stronger among individuals with the MTHFR val/val genotype. 8895734 1996
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We evaluated MTHFR genetic susceptibility and common environmental risk factors in the development of colon and rectal cancer, and assessed the interactions between gene and environmental factors with colorectal cancer in a case-control study in the Indian population. 16152599 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Homocysteine could be considered as a tumor marker in SHMT1 1420 wild-type (CC) CRC patients in Dukes' stage C and D. Further studies need to clarify why SHMT1 and MTHFR polymorphisms are associated only with rectal and not colon cancer risk. 20920350 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The results suggest that MTHFR genotypes are relevant and independent factors of patient outcome in 5FU-based treatment of advanced colorectal cancer. 15608557 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We evaluated the associations between plasma folate, MTHFR C677T, and A1298C, and colorectal cancer in three large prospective studies: the Nurses' Health Study, the Health Professionals Follow-up Study, and the Physicians' Health Study. 22367721 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE This population-based case-control study was designed to investigate the interrelationships between polymorphisms in the methylenetetrahydrofolate (MTHFR C677T and A1298C) gene and other genes (MTR A2756G; MTRR A66G and CBS 844ins68), intake of B-vitamins and colorectal cancer risk (CRC). 12020105 2002
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE In this study, we compared the MTHFR genotypes and haplotype to the features of colorectal cancer focusing on the promoter methylation of tumor DNA. 15161007 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Findings from three published studies suggested that the mutant genotype of MTHFR inversely slightly associated with colorectal cancer. 11059519 2000
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The folate pool in colorectal cancers is associated with DNA hypermethylation and with a polymorphism in methylenetetrahydrofolate reductase. 14676107 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Subjects with the RFC1 80AA genotype in combination with low plasma folate concentrations or the MTHFR 677TT genotype had a reduced risk of colorectal cancer of borderline statistical significance. 19172696 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Our study provides the evidences for 3'-UTR variants in MTHFR gene as potential biomarkers for use in CRC prevention. 26046315 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Functional variants in the methylenetetrahydrofolate reductase (MTHFR) gene, including the 677C>T and 1298A>C polymorphisms, have been associated with a moderately reduced risk of several cancers, including colorectal cancers. 16217917 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE This meta-analysis suggests that MTHFR C677T polymorphism is associated with decreased risk of colorectal cancer in East Asians, and MTHFR 677T variant has a protective effect on colorectal cancer. 22890827 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We investigated the association of C677T and A1298C, two common polymorphisms in the methylenetetrahydrofolate reductase gene, with risk for early onset colorectal cancer in Lynch syndrome. 17855693 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Analyses of KRAS mutations in metastatic colorectal cancer, EGFR mutations in advanced non-small cell lung cancer, CYP2D6 polymorphism in breast cancer, DPD polymorphism in colorectal cancer and MTHFR polymorphism in osteosarcoma have been performed by real time polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP). 27837635 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Collectively, these exploratory data provide suggestive evidence for the association of MTHFR 429 Ala/ Ala and TCN2 259 Arg/Arg and CIMP status in colorectal cancer. 19936946 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE A homozygous mutation at bp 677 in the gene for the methylenetetrahydrofolate reductase (MTHFR) was previously shown to be associated with a decreased risk of colorectal cancer. 10738112 2000
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, intakes of folate and related B vitamins and colorectal cancer: a case-control study in a population with relatively low folate intake. 18053312 2008
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE We related prediagnostic plasma folate, vitamin B12, and total homocysteine concentrations, and the MTHFR 677C>T and 1298A>C polymorphisms, to the risk of colorectal cancer with and without the CpG island methylator phenotype (CIMP). 20012180 2010
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE A total of ten studies relating MTHFR C677T and six studies relating MTHFR A1298C to the response to chemotherapy in patients with colorectal cancer were included in the meta-analysis and random effects pooled odds ratios were estimated. 19663673 2009