MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Significantly, common functional polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene are a risk factor for the development of late-onset AD. 29865064 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Genetic effect of MTHFR C677T polymorphism on the structural covariance network and white-matter integrity in Alzheimer's disease. 28342207 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The result of cumulative meta-analysis sorted by publication year was also detected a dynamic tendency of no correlation between MTHFR A1298C polymorphism and AD. 28281392 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Results of present meta-analysis supported that the MTHFR C677T polymorphism was associated with an increased risk of AD. 26820674 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Meta-Prediction of the Effect of Methylenetetrahydrofolate Reductase Polymorphisms and Air Pollution on Alzheimer's Disease Risk. 28085050 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE These reports were combined with related observational studies, and used to evaluate the effect of MTHFR C677T (rs1801133) on the risk for AD. 27031476 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Genetic polymorphisms of brain-derived neurotrophic factor, apolipoprotein E, interleukin 1-beta, and methylenetetrahydrofolate reductase have been demonstrated to confer increased risk to both LLD and AD by studies examining either LLD or AD patients. 27060956 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Methylenetetrahydrofolate reductase (MTHFR) gene mutations were studied in consecutive Alzheimer's Disease & Memory Clinic patients up to December 2014. 26401555 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The MTHFR C677T polymorphism may be a risk factor for AD in Asians, APOE ϵ4 carriers, and late-onset AD. 25486592 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE We detected a significant association of the MTHFR rs1801133 and PICALM rs3851179 polymorphisms with AD. 25359311 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The TCN2 776C → G polymorphism is negatively associated with Alzheimer's type dementia, suggesting a protective role against the disease in subjects with the 5, 10-methylenetetrahydrofolate reductase 1298AA genotype. 25395544 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Our data suggest an association between the MTHFR A1298C mutation and AD; however, the MTHFR C677T mutation did not contribute to susceptibility for AD. 23659764 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The MTHFR 677C>T polymorphism--especially the presence of one copy of the T allele--appears to confer a potential risk for the development of AD. 24223459 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease 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
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The MTHFR C677T polymorphism is associated with AD in Asian populations, but not in Caucasians. 21663380 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE In conclusion, this meta-analysis supports that MTHFR C677T polymorphism is capable of causing AD susceptibility in East Asians, not in Caucasians. 20600372 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease BEFREE Our data suggest a critical role for IL-8/MTHFR interactions in the development of AD. 19246914 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE MTHFR TT genotype was more prevalent in AD patients with milder alcohol dependence (Babor type A) and with Lesch type 3, associated with depression. 19650814 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE To study the interplay between serum concentrations of homocysteine, steroid hormones and vitamins B and mutations in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, in association to Alzheimer's type dementia (ATD). 19232336 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE A trend of association between TT genotype of MTHFR c.677C>T and AD was found [adjusted OR (95% CI): 1.73 (0.80-3.74)]. 17932993 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE The influence of APOE epsilon4 and NOS3 G alleles on the risk of AD was independent of homocysteine, vitamin B12 levels and MTHFR status. 19169966 2008
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE In AD there were significant differences of the levels of only Cys (GG, MTHFR, G1793A) and Met/Hcy (AA, MTHFD1, G1958A) whereas in PD there were more significant differences of the levels of thiols: Hcy [MTHFR: CT (C677T) and GG (G1793A); MTR, AG (A2756G)], Met [MTR, AA (A2756G)], Cys [MTR, AG (A2756G)], and Met/Hcy [MTHFR: CC, CT (C677T) and AA (A1298C), and GG (G1793A); MTHFD1 AA(G1958A); MTR AA(A2756G)]. 17691219 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 Biomarker disease CTD_human Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. 17192785 2007
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Our data confirms the association between increased plasma Hcy concentration and AD and suggests that neither C677T nor A1298C MTHFR polymorphisms contributed to genetic susceptibility for AD in elderly individuals in the Northeast of Brazil. 17221000 2006
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.400 GeneticVariation disease BEFREE Although the MTHFR gene C677T polymorphism has a significant impact on reducing enzyme activity and increasing t-Hcy concentrations, the association between the C677T polymorphism and AD remains inconclusive. 16055944 2005