rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.020 GeneticVariation BEFREE A Computational Approach to Identify the Biophysical and Structural Aspects of Methylenetetrahydrofolate Reductase (MTHFR) Mutations (A222V, E429A, and R594Q) Leading to Schizophrenia. 28427558 2017
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
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
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735 2016
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.010 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735 2016
Exfoliation Syndrome
CUI: C0206368
Disease: Exfoliation Syndrome
0.010 GeneticVariation BEFREE Among the three SNPs genotyped, MTHFR polymorphisms did not exhibit significant association with PEX (rs1801131; p = 0.549, rs1801133; p = 0.408). 28299500 2018
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.080 GeneticVariation BEFREE Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. 24945727 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.080 GeneticVariation BEFREE Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. 24945727 2014
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Blood pressure loci identified with a gene-centric array. 22100073 2011
Cognitive changes
CUI: C1392786
Disease: Cognitive changes
0.010 GeneticVariation BEFREE Both the 677C>T (rs1801133) polymorphism and the scarcely studied 1298A>C (rs1801131) polymorphism of the MTHFR gene were assessed in relation to cognitive change over 8 years in older community-dwelling individuals. 21255267 2011
Acrocyanosis
CUI: C0221347
Disease: Acrocyanosis
0.010 GeneticVariation BEFREE Chronic idiopathic acrocyanosis and methylenetetrahydrofolate reductase C677T (p.Ala222Val) and A1298C (p.Glu429Ala) polymorphisms. 23816603 2015
Tumor Cell Invasion
CUI: C1269955
Disease: Tumor Cell Invasion
0.010 GeneticVariation BEFREE Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be independent prognostic factors for esophageal cancer, and histopathological response (P = 0.01), MTHFR variant (rs1801131, P = 0.002), and ypN category (P = 0.02) to be prognostic factors for gastric cancer. 21347786 2011
Malignant neoplasm of esophagus
CUI: C0546837
Disease: Malignant neoplasm of esophagus
0.010 GeneticVariation BEFREE Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be independent prognostic factors for esophageal cancer, and histopathological response (P = 0.01), MTHFR variant (rs1801131, P = 0.002), and ypN category (P = 0.02) to be prognostic factors for gastric cancer. 21347786 2011
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
0.010 GeneticVariation BEFREE Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be independent prognostic factors for esophageal cancer, and histopathological response (P = 0.01), MTHFR variant (rs1801131, P = 0.002), and ypN category (P = 0.02) to be prognostic factors for gastric cancer. 21347786 2011
Esophageal Neoplasms
CUI: C0014859
Disease: Esophageal Neoplasms
0.010 GeneticVariation BEFREE Cox regression revealed ypT category (P = 0.001) and lymphatic vessel invasion (P = 0.03) to be independent prognostic factors for esophageal cancer, and histopathological response (P = 0.01), MTHFR variant (rs1801131, P = 0.002), and ypN category (P = 0.02) to be prognostic factors for gastric cancer. 21347786 2011
adult chronic myelogenous leukemia
CUI: C4733577
Disease: adult chronic myelogenous leukemia
0.010 GeneticVariation BEFREE For MTHFR A1298C (dbSNP: rs1801131, A>C), the combined results showed that carriers of the C allele may be associated with a decreased risk of adult CML. 24379141 2014
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
Primary central nervous system lymphoma
0.010 GeneticVariation BEFREE Furthermore, for the methylenetetrahydrofolate reductase (MTHFR) c.1298A > C (E429A) polymorphism the mutated C-allele was found more frequently among PCNSL patients than among population controls (P = 0.026; OR = 1.57; 1.05-2.34). 20237949 2010
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
AIDS related complex
CUI: C0001857
Disease: AIDS related complex
0.010 GeneticVariation BEFREE Haplotype analyses revealed an adverse effect of the haplotype "C-A-T-C" (alleles in order of SNPs rs3737967, rs1801131, rs1801133 and rs9651118) on ARC risk (OR = 1.55, P = 0.003). 26689687 2015
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.080 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964 2015
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.080 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CTCCGA haplotype (rs12121543-rs13306553-rs9651118-rs1801133-rs2274976-rs1801131) had significant reduced risk of T2DM (adjusted OR = 0.71, 95% CI: 0.58-0.87, P = 0.001) compared with CTTTGA haplotype. 25165408 2014
Renal Cell Carcinoma
CUI: C0007134
Disease: Renal Cell Carcinoma
0.010 GeneticVariation BEFREE However, methylenetetrahydrofolate reductase (rs1801133 and rs1801131), vitamin D receptor (TaqI and Fok1), and interleukin-16 (rs4778889 and rs11556218) gene polymorphisms were not associated with the risk of renal cell carcinoma. 31242814 2019