rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adult Meningioma
CUI: C0278877
Disease: Adult Meningioma
0.020 GeneticVariation BEFREE In conclusion, our meta-analysis suggests that two folate metabolism genetic variants MTRR A66G (rs1801394) and MTHFR A1298C (rs1801131) contribute to genetic susceptibility to meningioma and glioma in adults. 28915669 2017
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma 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
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
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.020 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
Meningioma
CUI: C0025286
Disease: Meningioma
0.020 GeneticVariation BEFREE Our updated meta-analysis provided statistical evidence for the role of <i>MLLT10</i> rs12770228, <i>MTRR</i> rs1801394, and <i>MTHFR</i> rs1801131 in increased susceptibility to meningioma. 28405167 2017
Adult Meningioma
CUI: C0278877
Disease: Adult Meningioma
0.020 GeneticVariation BEFREE Our updated meta-analysis provided statistical evidence for the role of <i>MLLT10</i> rs12770228, <i>MTRR</i> rs1801394, and <i>MTHFR</i> rs1801131 in increased susceptibility to meningioma. 28405167 2017
Meningioma, benign, no ICD-O subtype
0.020 GeneticVariation BEFREE Our updated meta-analysis provided statistical evidence for the role of <i>MLLT10</i> rs12770228, <i>MTRR</i> rs1801394, and <i>MTHFR</i> rs1801131 in increased susceptibility to meningioma. 28405167 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of T2DM in these Han Chinese. 25074646 2014
Meningioma, benign, no ICD-O subtype
0.020 GeneticVariation BEFREE In conclusion, our meta-analysis suggests that two folate metabolism genetic variants MTRR A66G (rs1801394) and MTHFR A1298C (rs1801131) contribute to genetic susceptibility to meningioma and glioma in adults. 28915669 2017
Factor V Leiden mutation
CUI: C0584960
Disease: Factor V Leiden mutation
0.020 GeneticVariation BEFREE SNP in these genes showed association with venous thrombosis risk in whites: MTHFR rs1801131 (OR 1.51, p = 0.01), MTHFR rs1801133 (OR 0.70, p = 0.04), FVL rs6025 (OR 2.69, p = 0.002), and FGG rs2066865 (OR 1.49, p = 0.02) in whites. 22707612 2012
Meningioma
CUI: C0025286
Disease: Meningioma
0.020 GeneticVariation BEFREE In conclusion, our meta-analysis suggests that two folate metabolism genetic variants MTRR A66G (rs1801394) and MTHFR A1298C (rs1801131) contribute to genetic susceptibility to meningioma and glioma in adults. 28915669 2017
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.020 GeneticVariation BEFREE The MTHFR rs1801133 CT genotype, TT genotype and T allele; the MTHFR rs1801131 AC genotype, CC genotype and C allele; the MTRR rs1801394 GA genotype, GG genotype and G allele; and the MTRR rs162036 AG genotype and AG+GG genotypes were associated with the efficacy of folic acid therapy for HHcy (P<0·05). 29644956 2018
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE We aimed to evaluate the associations of MTHFR (rs1801133, rs1801131, rs9651118), TCN2 (rs117353193) and RNF213 (rs9916351) with hypertension and blood pressure (BP). 31815282 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.020 GeneticVariation BEFREE Our overall analyses suggested that <i>MTRR</i> rs1801394, <i>MTRR</i> rs1532268, <i>MTHFR</i> rs1801131 and <i>MTHFR</i> rs1801133 polymorphisms were all significantly associated with the risk of CHD in certain genetic models. 30333252 2018
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
Malignant neoplasm of lung
CUI: C0242379
Disease: 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
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
Acute leukemia
CUI: C0085669
Disease: Acute leukemia
0.010 GeneticVariation BEFREE This study tested the hypothesis that maternal folic acid supplementation before or during pregnancy reduces AL risk, accounting for the SNPs rs1801133 (C677T) and rs1801131 (A1298C) in MTHFR and rs1801394 (A66G) and rs1532268 (C524T) in MTRR, assumed to modify folate metabolism. 22706675 2012
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
Meniere Disease
CUI: C0025281
Disease: Meniere Disease
0.010 GeneticVariation BEFREE We examined the C677T and A1298C (rs1801133 and rs1801131) polymorphisms in the MTHFR gene and compared them between 1946 adults (986 men and 960 women) participating in the National Institute for Longevity Sciences Longitudinal Study of Aging and 86 cases of MD. 23484733 2013
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
0.010 GeneticVariation BEFREE In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. 15889417 2005
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
OTOFACIOCERVICAL SYNDROME 1
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
0.010 GeneticVariation BEFREE The aim of this study was to investigate the effects of maternal riboflavin intake and two MTHFR polymorphisms (677C>T; Ala222Val and 1298A>C; Glu429Ala substitutions) on the biomarkers of the homocysteine pathway, and investigate the risk of having offspring with an orofacial cleft (OFC). 19935819 2010
Complete Trisomy 21 Syndrome
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
0.010 GeneticVariation BEFREE In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. 15889417 2005