rs397507444, MTHFR

N. diseases: 306
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE However, risk was significantly increased for MTHFR A1298C polymorphisms and colon cancer risk in hospital-based studies (C vs A: OR=1.52, 95%CI=1.26-1.83, p=0.000; CC+AC vs AA: OR=1.93, 95%CI=1.47-2.49, p=0.000) but reduced in population-based studies (CC vs AA: OR=0.83, 95%CI=0.70-0.99, p=0.042). 25339013 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE The MTHFR A1298C polymorphism was associated with risk of colon cancer. 24533714 2014
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE A haplotype of A66G and A1298C polymorphisms, A/A, proved to be protective (OR=0.775; 95% CI=0.603-0.996; p=0.04), whereas haplotype A/G was a risk factor for colon cancer (OR=1.270; 95% CI=1.007-1.602; p=0.04). 21438757 2011
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE Interactions were observed between the MTHFR A1298C polymorphism and bowel habits, family history of cancer, alcohol consumption, and beef consumption on colon cancer risk (P-value for interaction = 0.0005, 0.007, 0.067, 0.003, respectively). 20551579 2010
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE Individuals who had C677T T/T and A1298C A/A genotypes were at an increased risk of developing colon cancer (adjusted OR=2.64, 95%CI: 1.20-5.81) compared with those with C677T C allele and A1298C A/A genotypes among males. 18712959 2009
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE Recently, methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) mutations were discovered to be associated with childhood acute lymphoblastic leukemia (ALL), as well as colon cancer, lymphoma, esophageal and stomach cancer. 16886608 2006
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE The aim of this study was to investigate the association of environmental factors (dietary folate, methionine and drinking status) and polymorphisms in the methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) gene, as well as the combination of these factors, with the risk of colon cancer and rectal cancer. 15829374 2005
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE While the A1298C polymorphism showed no measurable association with the overall risk of colorectal cancer, the 1298CC genotype was associated with a statistically significant increase in the risk when alcohol consumption was high, and was also associated with an approximately 2-fold increase in the risk of each of proximal and distal colon cancer. 15546509 2004
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.090 GeneticVariation BEFREE In summary, this study supports recent findings that the MTHFR A1298C polymorphism may be a predictor of colon cancer risk and have functional relevance. 14973104 2004