rs1801131, MTHFR

N. diseases: 93
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Acrocyanosis
CUI: C0221347
Disease: Acrocyanosis
0.010 GeneticVariation BEFREE Chronic idiopathic acrocyanosis and methylenetetrahydrofolate reductase C677T (p.Ala222Val) and A1298C (p.Glu429Ala) polymorphisms. 23816603 2015
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
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE To evaluate the effects of the genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) on childhood ALL risk in Taiwan, two well-known polymorphic genotypes of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed to examine the extent of their associations with childhood ALL susceptibility and to discuss the MTHFR genotypic contribution to childhood ALL risk among different populations. 25793509 2015
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE We also found a significantly interaction between the two SNPs, participants with rs1801133 - CT or TT and rs1801131 - AC or CC genotype have the lowest ALL risk, compared with participants with rs1801133 - CC and rs1801131 - AA genotype, OR (95% CI) was 0.32 (0.12-0.63). 27996344 2017
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
0.030 GeneticVariation BEFREE Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7.3; P < .001) and methylenetetrahydrofolate reductase rs1801131 (hazard ratio 3.1; P = .015) with event-free survival in the ALL-BFM 2000 study population. 23652803 2013
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE We also found a significantly interaction between the two SNPs, participants with rs1801133 - CT or TT and rs1801131 - AC or CC genotype have the lowest ALL risk, compared with participants with rs1801133 - CC and rs1801131 - AA genotype, OR (95% CI) was 0.32 (0.12-0.63). 27996344 2017
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE Multiple Cox regression analyses revealed an association of minimal residual disease (hazard ratio 7.3; P < .001) and methylenetetrahydrofolate reductase rs1801131 (hazard ratio 3.1; P = .015) with event-free survival in the ALL-BFM 2000 study population. 23652803 2013
Adult Acute Lymphocytic Leukemia
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
0.030 GeneticVariation BEFREE To evaluate the effects of the genotypic polymorphisms in methylenetetrahydrofolate reductase (MTHFR) on childhood ALL risk in Taiwan, two well-known polymorphic genotypes of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed to examine the extent of their associations with childhood ALL susceptibility and to discuss the MTHFR genotypic contribution to childhood ALL risk among different populations. 25793509 2015
adult chronic myelogenous leukemia
CUI: C4733577
Disease: adult chronic myelogenous leukemia
0.010 GeneticVariation BEFREE For MTHFR A1298C (dbSNP: rs1801131, A>C), the combined results showed that carriers of the C allele may be associated with a decreased risk of adult CML. 24379141 2014
Adult Liver Carcinoma
CUI: C0220630
Disease: Adult Liver Carcinoma
0.010 GeneticVariation BEFREE Thus, Asian individuals with the homozygote genotype CC of MTHFR rs1801131 polymorphism are significantly associated with decreased risk of liver cancer. 24014085 2014
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
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
AIDS related complex
CUI: C0001857
Disease: AIDS related complex
0.010 GeneticVariation BEFREE Haplotype analyses revealed an adverse effect of the haplotype "C-A-T-C" (alleles in order of SNPs rs3737967, rs1801131, rs1801133 and rs9651118) on ARC risk (OR = 1.55, P = 0.003). 26689687 2015
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE In AD, we observed a significant (p = 0.04) association with C alleles of rs1801131. 22015309 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.020 GeneticVariation BEFREE Previous studies have investigated the association between MTHFR A1298C (rs1801131) polymorphism and susceptibility to Alzheimer's disease (AD). 28281392 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
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE MTHFR rs1801131, MTR rs1805087 and BHMT rs3733890 also showed association with ADHD index. 29407547 2018
Attention deficit hyperactivity disorder
0.020 GeneticVariation BEFREE We hypothesized that ADHD related cognitive deficit could be attributed to abnormalities in the folate cycle and explored functional single nucleotide polymorphisms in methylenetetrahydrofolate dehydrogenase (rs2236225), reduced folate carrier (rs1051266), and methylenetetrahydrofolate reductase (rs1801131 and rs1801133) in families with ADHD probands (N = 185) and ethnically matched controls (N = 216) recruited following the DSM-IV. 25079255 2014
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
0.010 GeneticVariation BEFREE We investigated the effect of polymorphic variants of c.1298A>C (Glu429Ala) and c.677C>T (Ala222Val) in methylenetetrahydrofolate (MTHFR) gene on the total homocysteine (tHcy), folate and B12 levels in patients with bipolar disorder, first-degree relatives of patients, and controls. 18513846 2008
Blood Pressure
CUI: C0005823
Disease: Blood Pressure
0.700 GeneticVariation GWASDB Blood pressure loci identified with a gene-centric array. 22100073 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.080 GeneticVariation BEFREE We investigated the independent and the combined effects of two commonly occurring polymorphisms, MTHFR 677C>T (rs1801133) and MTHFR 1298A>C (rs1801131), as well as their interaction with the use of hormone replacement therapy (HRT), to determine their potential contribution to breast cancer risk. 21461582 2011
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
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 Two well-known polymorphic variants of MTHFR, C677T (rs1801133) and A1298C (rs1801131), were analyzed and their joint effects with individual age- and estrogen-related factors on breast cancer risk were discussed. 25075036 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.080 GeneticVariation BEFREE Association of 677 C>T (rs1801133) and 1298 A>C (rs1801131) polymorphisms in the MTHFR gene and breast cancer susceptibility: a meta-analysis based on 57 individual studies. 24945727 2014
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
0.080 GeneticVariation BEFREE Haplotype analysis also showed that MTHFR CACCAA and AGTCAC haplotypes (rs12121543-rs13306553-rs9651118-rs1801133-rs4846048-rs1801131) had significant reduced risk of breast cancer (adjusted OR = 0.70, 95 % CI 0.58-0.86; adjusted OR = 0.57, 95 % CI 0.40-0.80) compared with CATTAA haplotype. 25566964 2015