rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Dementia, Vascular
CUI: C0011269
Disease: Dementia, Vascular
0.010 GeneticVariation BEFREE In this case-control study, we examined C677T and A1298C (rs1801133 and rs1801131) polymorphism in the methylenetetrahydrofolate reductase (MTHFR) genes and their correlation with plasma levels of homocysteine (Hcy) in AD and VaD cases and evaluated the gene-gene interaction (epistasis) with IL-6-174 G/C (rs1800795). 22015309 2012
Diabetes
CUI: C0011847
Disease: Diabetes
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
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
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
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
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
Diffuse Large B-Cell Lymphoma
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE The present study evaluated the impact of single gene polymorphisms (SNPs: rs1801133 and rs1801131 in the MTHFR gene; rs4149056 and rs11045879 in the SLC01B1 gene; and rs2032582 and rs1045642 in the ABCB1 transporter gene) on MTX blood levels and toxicity in samples from 69 patients with diffuse large-B-cell lymphoma (DLBCL) treated with high dose intravenous (HD IV) MTX, > 2 g/m(2). 23829278 2014
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
Eclampsia
CUI: C0013537
Disease: Eclampsia
0.010 GeneticVariation BEFREE The objective of this study was to investigate the association of MTHFR 677C>T (rs1801133); 1298A>C (rs1801131) and F5 1691G>A (rs6025); 4070A>G (rs1800595) polymorphisms with pre-eclampsia and recurrent pregnancy loss among Sinhalese women in Sri Lanka. 22540831 2012
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
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
Experimental Organism Basal Cell Carcinoma
0.010 GeneticVariation BEFREE The CT genotype in 677C/T MTHFR polymorphism and CC genotype in 1286A/C MTHFR polymorphism also significantly increased the risk of BCC development. 21732987 2011
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
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
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
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
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
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
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
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
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
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
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 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