rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7.3; P < .001) and methylenetetrahydrofolate reductase rs1801131 (hazard ratio 3.1; P = .015) with event-free survival in the ALL-BFM 2000 study population. 23652803 2013
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE To evaluate the effects of the genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) on childhood ALL risk in Taiwan, two well-known polymorphic genotypes of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed to examine the extent of their associations with childhood ALL susceptibility and to discuss the MTHFR genotypic contribution to childhood ALL risk among different populations. 25793509 2015
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.030 GeneticVariation BEFREE Our findings indicated that the rs1801131 polymorphism may serve as a genetic biomarker of HCC in Asians. 30917367 2019
Childhood Acute Lymphoblastic Leukemia
0.030 GeneticVariation BEFREE We also found a significantly interaction between the two SNPs, participants with rs1801133 - CT or TT and rs1801131 - AC or CC genotype have the lowest ALL risk, compared with participants with rs1801133 - CC and rs1801131 - AA genotype, OR (95% CI) was 0.32 (0.12-0.63). 27996344 2017
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.030 GeneticVariation BEFREE Further subgroup analyses revealed that the rs1801131</span> polymorphism was significantly associated with the likelihood of HCC in Asians with both FEMs (recessive model: <i>P</i> < 0.0001, OR = 0.42, 95% CI 0.29-0.62; allele model: <i>P</i> = 0.004, OR =1.20, 95% CI 1.06-1.35) and random-effect models (recessive model: <i>P</i> = 0.002, OR = 0.47, 95% CI 0.29-0.75). 31282757 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.030 GeneticVariation BEFREE While rs1801131A/C genetic polymorphism is associated with the clinical response, rs1801133C/T and rs2274976A/G genetic polymorphisms are associated with MTX-related AEs in the treatment of RA. 20863444 2010
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.030 GeneticVariation BEFREE This study demonstrated that MTHFR polymorphism was associated with HCC occurrence and post-transplant HCC recurrence. rs1801131 mutation A to C is a valuable molecular biomarker for predicting HCC occurrence in Chinese Han population. 29185200 2018
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE We also found a significantly interaction between the two SNPs, participants with rs1801133 - CT or TT and rs1801131 - AC or CC genotype have the lowest ALL risk, compared with participants with rs1801133 - CC and rs1801131 - AA genotype, OR (95% CI) was 0.32 (0.12-0.63). 27996344 2017
Childhood Acute Lymphoblastic Leukemia
0.030 GeneticVariation BEFREE To evaluate the effects of the genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) on childhood ALL risk in Taiwan, two well-known polymorphic genotypes of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed to examine the extent of their associations with childhood ALL susceptibility and to discuss the MTHFR genotypic contribution to childhood ALL risk among different populations. 25793509 2015
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.030 GeneticVariation BEFREE MTHFR SNPs rs1801131 and rs1801133 are unlikely to have a clinically meaningful effect on the first 6 months of MTX treatment in early RA. 24624914 2014
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7.3; P < .001) and methylenetetrahydrofolate reductase rs1801131 (hazard ratio 3.1; P = .015) with event-free survival in the ALL-BFM 2000 study population. 23652803 2013
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.030 GeneticVariation BEFREE In this regard, besides a strong association between the HLA-DRB1∗04 shared epitope alleles and both endothelial dysfunction, an early step in the atherosclerotic process, and clinically evident CV disease, other polymorphisms belonging to genes implicated in inflammatory and metabolic pathways, located inside and outside the HLA region, such as the 308 variant (G > A, rs1800629) of the TNFA locus, the rs1801131 polymorphism (A > C; position + 1298) of the MTHFR locus, or a deletion of 32 base pairs on the CCR5 gene, seem to be associated with the risk of CV disease in patients with RA. 22927710 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE In AD, we observed a significant (p = 0.04) association with C alleles of rs1801131. 22015309 2012
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE Two well-known polymorphic variants of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed in association with lung cancer susceptibility, and discussed their joint effects with individual habits on lung cancer risk. 20065319 2010
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.020 GeneticVariation BEFREE A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 and 2007, and who had prior genotyping of functional single-nucleotide polymorphisms in oxidative stress genes including superoxide dismutase 2 (SOD2; rs4880) and methylene tetrahydrofolate reductase (MTHFR; rs1801131, rs1801133). 22144047 2012
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 and 2007, and who had prior genotyping of functional single-nucleotide polymorphisms in oxidative stress genes including superoxide dismutase 2 (SOD2; rs4880) and methylene tetrahydrofolate reductase (MTHFR; rs1801131, rs1801133). 22144047 2012
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.020 GeneticVariation BEFREE There was no evidence of rs1801131 (A1298C) affecting age of onset in schizophrenia. 19746410 2010
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE MTHFR rs1801131, MTR rs1805087 and BHMT rs3733890 also showed association with ADHD index. 29407547 2018
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the folate cycle and explored functional single nucleotide polymorphisms in methylenetetrahydrofolate dehydrogenase (rs2236225), reduced folate carrier (rs1051266), and methylenetetrahydrofolate reductase (rs1801131 and rs1801133) in families with ADHD probands (N = 185) and ethnically matched controls (N = 216) recruited following the DSM-IV. 25079255 2014
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.020 GeneticVariation BEFREE A review was conducted of 136 patients treated with radiation therapy for lung cancer between 2001 and 2007, and who had prior genotyping of functional single-nucleotide polymorphisms in oxidative stress genes including superoxide dismutase 2 (SOD2; rs4880) and methylene tetrahydrofolate reductase (MTHFR; rs1801131, rs1801133). 22144047 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.020 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437 2018
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.020 GeneticVariation BEFREE MTHFR rs1801131 were identified as loci in Chinese population that were involved in CHD. 26035828 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE Previous studies have investigated the association between MTHFR A1298C (rs1801131) polymorphism and susceptibility to Alzheimer's disease (AD). 28281392 2017
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE The associations of SNP rs4402960 with overweight as well as the association of SNP rs1801131 with hypertension were found to be statistically significant. 24959828 2014
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE The most significant phosSNPs for SBP, DBP, CAD and IS were rs1801131 in MTHFR, rs3184504 in SH2B3, rs35212307 in WDR12 and rs3184504 in SH2B3, respectively. 31456518 2019