MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE Genetic effect of MTHFR C677T polymorphism on the structural covariance network and white-matter integrity in Alzheimer's disease. 28342207 2017
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE This meta-analysis reveals that MTHFR A1298C polymorphism may not be associated with AD risk. 28281392 2017
dbSNP: rs1801131
rs1801131
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
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
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE <i>MTHFR</i> C677T TT and CT genotypes had significant associations with AD risk in all ra</span>cial populations (RR = 1.13, <i>p</i> = 0.0047; and RR = 1.12, <i>p</i> < 0.0001 respectively). 28085050 2017
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE This report suggests the value of genotyping patients at the C677T functional variant when using plasma ApoE levels as a preclinical biomarker for Alzheimer's disease. 27380243 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation 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
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.050 GeneticVariation 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
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE Results of present meta-analysis supported that the MTHFR C677T polymorphism was associated with an increased risk of AD. 26820674 2017
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism may be a risk factor for AD in Asians, APOE ϵ4 carriers, and late-onset AD. 25486592 2015
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.050 GeneticVariation BEFREE We detected a significant association of the MTHFR rs1801133 and PICALM rs3851179 polymorphisms with AD. 25359311 2015
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation 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
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE Genetic analyses did not indicate a significant association between the MTHFR C677T mutation and A</span>D (C/T: 63.15% versus 39%, p=0.087). 23659764 2013
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 GeneticVariation BEFREE The MTHFR A1298C polymorphism is a possible risk factor for Alzheimer's disease. 23659764 2013
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 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
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.070 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
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.050 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
dbSNP: rs1801131
rs1801131
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
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
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism is associated with AD in Asian populations, but not in Caucasians. 21663380 2011
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.050 GeneticVariation BEFREE The association between methylenetetrahydrofolate reductase (MTHFR) gene (rs1801133) 677C/T polymorphism and Alzheimer's disease (AD) is controversial. 21663380 2011
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation 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
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE The presence of the MTHFR 677 C/T and 677 T/T genotypes conferred a marginally significant increase in the risk for AD (OR = 1.666, 95% CI = 1.022-2.715, and OR = 1.892, 95% CI = 1.124-3.187) and the presence of the IL-8 -251 polymorphism was not associated with AD. 19246914 2009
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation BEFREE Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease. 18258338 2009
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation 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
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.050 GeneticVariation BEFREE The association between methylenetetrahydrofolate reductase (MTHFR) c.677C>T (A222V) polymorphism and Alzheimer's disease (AD) is controversial. 17932993 2008
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002395
Disease:
Alzheimer's Disease
0.100 GeneticVariation 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