rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyp of large intestine
CUI: C0949059
Disease: Polyp of large intestine
0.010 GeneticVariation BEFREE The C/C genotype of MTHFR rs1801131 is more likely to be a genetic risk factor for colorectal polyps in the UK region, although this finding should be verified with a larger sample size. 31146742 2019
Ovarian Hyperstimulation Syndrome
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
0.010 GeneticVariation BEFREE The polymorphic alleles of MTHFR (rs1801131 C-allele and rs1801133 T-allele), AMHR2 (rs2002555 G-allele), and LHCGR (rs2293275 G-allele) were significantly more prevalent among patients with OHSS compared to those in the NOR group. 31115963 2019
Glaucoma
CUI: C0017601
Disease: Glaucoma
0.010 GeneticVariation BEFREE Our findings indicated that rs1801131 and rs1801133 polymorphisms may serve as genetic biomarkers of glaucoma in West Asians. 30851082 2019
Deep Vein Thrombosis
CUI: C0149871
Disease: Deep Vein Thrombosis
0.010 GeneticVariation BEFREE Moreover, the MTHFR rs1801133 polymorphism may be implicated in the development of deep vein thrombosis and pulmonary embolism, while the MTHFR rs1801131 polymorphism may contribute to the development of pulmonary embolism. 30466296 2019
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
Conventional (Clear Cell) 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
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
0.010 GeneticVariation BEFREE The prevalence of the following genetic variants was determined: F5 c.1601G>A (factor V Leiden), F2 c.*97G>A (factor II or prothrombin mutation), F13A1 (factor XIII) c.103G>T, MTHFR (methylenetetrahydrofolate reductase) c.665C>T and c.1286A>C, as well as PAI-1 (plasminogen activator inhibitor 1) c.-816A>G and c.-844G>A as markers of thrombophilia risk, and *2 and *3 alleles of CYP2C9 (cytochrome P450 2C9) and five variants of VKORC1 (vitamin K epoxide reductase complex subunit 1) as markers of warfarin pharmacogenetics. 31187948 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
0.010 GeneticVariation BEFREE Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C. 30131855 2018
Vitamin B 12 Deficiency
CUI: C0042847
Disease: Vitamin B 12 Deficiency
0.010 GeneticVariation BEFREE On the other hand, the MTHFR c.1286A>C variant did not show significant association with vitamin B12 deficiency in the selected population. 30581350 2018
Psoriasis
CUI: C0033860
Disease: Psoriasis
0.010 GeneticVariation BEFREE Our study found that rs1801133, rs1801131 within MTHFR gene, and interaction between C677T and alcohol drinking and haplotype containing the 1298C and 677T alleles were all associated with increased psoriasis risk. 30084051 2018
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
0.010 GeneticVariation BEFREE Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C. 30131855 2018
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
FRIEDREICH ATAXIA 1
CUI: C1856689
Disease: FRIEDREICH ATAXIA 1
0.010 GeneticVariation BEFREE Overall, there was no significant association between <i>MTHFR</i> C677T (rs1801133) or A1298C (rs1801131) polymorphisms and the clinical response to fluoropyrimidine-based chemotherapy under all of the three genetic models (allele model, dominant model, and recessive model) and stratification analysis, except for the retrospective study subgroup in the dominant model of <i>MTHFR</i> C677T and the "5-Fu <i>+</i> FA" treatment group in the allele contrast of <i>MTHFR</i> A1298C. 30131855 2018
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE The frequency of CT haplotype of MTHFR rs1801133C>T and rs1801131A>C polymorphisms was significantly higher in the SLE patients (20 vs. 12%), and CT haplotype may be potentially a risk factor for SLE susceptibility [OR 1.9 (95% CI 1.2-2.9); p=0.006]. 28943344 2017
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE Logistic regression analysis after applying factorial design to the studied single nucleotide polymorphisms (SNPs) revealed that homocysteine levels and heterozygous and mutant alleles at rs1801133, rs1805087, along with mutant alleles at rs1801131, rs4646994, conferred higher risk for CAD. 28514598 2017
Anterior encephalocele
CUI: C4024948
Disease: Anterior encephalocele
0.010 GeneticVariation BEFREE This case-control study investigated the interactions of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-1958G>A (rs2236225) and the methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133) and 1298A>C (rs1801131) polymorphisms with the risk of AE in the Northeast Indian population. 28398708 2017
Gestational Trophoblastic Neoplasms
CUI: C1135868
Disease: Gestational Trophoblastic Neoplasms
0.010 GeneticVariation BEFREE MTHFR C677T (rs1801133) and A1298C (rs1801131) were genotyped using high-resolution melting assays in 62 Japanese low-risk GTN patients and in 52 antecedent molar tissues. 27840191 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE In conclusion, MTHFR rs1801131 AC+CC genotypes could be a risk factor and MTR rs1805087AG genotype could be a protective factor for SLE susceptibility. 28943344 2017
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
0.010 GeneticVariation BEFREE Hyperactivity-impulsivity score revealed association with rs5742905 'TT' and rs2236225 'CC', while rs1801133 'CC' showed association with inattentiveness and hyperactivity-impulsivity. rs1801131 exhibited strong synergistic interaction with rs1051266 and rs2236225. 28250422 2017
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
0.010 GeneticVariation BEFREE Hyperactivity-impulsivity score revealed association with rs5742905 'TT' and rs2236225 'CC', while rs1801133 'CC' showed association with inattentiveness and hyperactivity-impulsivity. rs1801131 exhibited strong synergistic interaction with rs1051266 and rs2236225. 28250422 2017
Glioma
CUI: C0017638
Disease: Glioma
0.010 GeneticVariation BEFREE In conclusion, our meta-analysis suggests that two folate metabolism genetic variants MTRR A66G (rs1801394) and MTHFR A1298C (rs</span>1801131) contribute to genetic susceptibility to meningioma and glioma in adults. 28915669 2017
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 GeneticVariation BEFREE In addition, the A-T haplotype of rs1801131-rs1801133 showed a protective role against PD d</span>evelopment (P=0.007, odds ratio=0.779, 95% confidence interval=0.650-0.933). 26806866 2016
Retinoblastoma
CUI: C0035335
Disease: Retinoblastoma
0.010 GeneticVariation BEFREE This study was carried out to investigate whether the MTHFR C677T (rs1801133), MTHFR A1298C (rs1801131) and TYMS 2R/3R (rs34743033) polymorphisms are associated with susceptibility to retinoblastoma in an Iranian population. 26914443 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
Retinopathy of Prematurity
CUI: C0035344
Disease: Retinopathy of Prematurity
0.010 GeneticVariation BEFREE To assess Factor V Leiden (FVL) (rs6025), Prothrombin G20210A (rs1799963), MTHFR C677T (rs1801133), and MTHFR A1298C (rs1801131) gene mutations as risk factors in the development of retinopathy of prematurity (ROP). 27018927 2016