rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE The MTHFR rs1801133 polymorphism was not associated with the prognosis of patients with CRC; however, rs1801131 may be associated with the prognosis of patients with CRC. 31330573 2019
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.030 GeneticVariation BEFREE Our findings indicated that the rs1801131 polymorphism may serve as a genetic biomarker of HCC in Asians. 30917367 2019
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
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE The most significant phosSNPs for SBP, DBP, CAD and IS were rs1801131 in MTHFR, rs3184504 in SH2B3, rs35212307 in WDR12 and rs3184504 in SH2B3, respectively. 31456518 2019
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
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
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.080 GeneticVariation BEFREE MTHFR-rs1801131-CC genotype was associated with sporadic BC. 29544444 2018
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.080 GeneticVariation BEFREE MTHFR-rs1801131-CC genotype was associated with sporadic BC. 29544444 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.060 GeneticVariation BEFREE In this hospital-based case-control study, the role of MTHFR C677T (rs1801133) and A1298C (rs1801131) genotypes in determining CRC risk were investigated among 362 patients with CRC and an equal number of age- and gender-matched healthy individuals. 29599316 2018
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.030 GeneticVariation BEFREE This study demonstrated that MTHFR polymorphism was associated with HCC occurrence and post-transplant HCC recurrence. rs1801131 mutation A to C is a valuable molecular biomarker for predicting HCC occurrence in Chinese Han population. 29185200 2018
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE MTHFR rs1801131, MTR rs1805087 and BHMT rs3733890 also showed association with ADHD index. 29407547 2018
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
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
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