rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
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
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
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
0.010 GeneticVariation BEFREE The heterozygotes of exon polymorphisms (rs1801131, rs1801133) also yielded better clinical benefit (P = 0.030 for rs1801131) and decreased risk of severe gastrointestinal toxicity (P = 0.004 for rs1801131) or thrombocytopenia (P = 0.016 for 1801133). 25104092 2014
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.020 GeneticVariation BEFREE There was no evidence of rs1801131 (A1298C) affecting age of onset in schizophrenia. 19746410 2010
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
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
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
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
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
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
Renal sclerosis with hypertension
CUI: C0264657
Disease: Renal sclerosis with hypertension
0.010 GeneticVariation BEFREE We analyzed 821 subjects with hypertensive nephrosclerosis from the longitudinal National Institute of Diabetes and Digestive and Kidney Diseases African-American Study of Kidney Disease and Hypertension (AASK) Trial to determine whether decline in glomerular filtration rate (GFR) over ∼4.2 years was predicted by common genetic variation within MTHFR at non-synonymous positions C677T (Ala222Val) and A1298C (Glu429Ala) or by MTHFR haplotypes. 21613384 2012
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
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
Prostate carcinoma
CUI: C0600139
Disease: Prostate carcinoma
0.010 GeneticVariation BEFREE To assess the association and interaction of genotypic polymorphisms in MTHFR and lifestyle factors with prostate cancer in Taiwan, we investigated two well-known polymorphic variants of MTHFR, C677T (rs1801133) and A1298C (rs1801131), analyzed the association of specific genotypes with prostate cancer susceptibility, and discussed their joint effects with individual habits on prostate cancer risk. 20944139 2010
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
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
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
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
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
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
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
OROFACIAL CLEFT 1
CUI: C1861537
Disease: OROFACIAL CLEFT 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
Orofacial cleft
CUI: C3266076
Disease: Orofacial cleft
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
Myeloid Leukemia
CUI: C0023470
Disease: Myeloid Leukemia
0.010 GeneticVariation BEFREE Our meta-analysis has presented evidence supporting a possible association between the CC genotype of MTHFR SNP rs1801131 and myeloid leukemia in Asian populations. 24894669 2014