rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease. 18258338 2009
Alzheimer's Disease
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
Alzheimer's Disease
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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation 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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation 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
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE In spite of the evidence that a C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene elevates plasma Hcy levels, the impact of the C677T polymorphism on the development of AD is controversial. 15123333 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE In spite of a significant impact of a MTHFR C677T polymorphism on the blood homocysteine levels, the association between the C677T polymorphism and AD remains controversial. 14739536 2004
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE This may be associated with the T/T genotype in the MTHFR gene; however, the distribution of the MTHRF C677T polymorphism in the Polish population does not differ in AD and controls. 12784029 2003
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE We failed to show independent associations between AD and the common MTHFR polymorphisms (C677T and A1298C). 12480755 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE Plasma tHcy levels, homozygosity for the C677T mutation of the MTHFR gene, and folate and vitamin B(12) plasma levels were evaluated in 74 patients with AD (45 men, 29 women, mean age 68 years) and in 74 healthy matched controls (42 men, 32 women, mean age 68 years). 11721146 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer). 11916749 2002
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE The distribution of the C677T polymorphism did not differ in AD and controls. 11711225 2001
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.100 GeneticVariation BEFREE The MTHFR C677T is not associated with an increased risk of vascular dementia or Alzheimer's disease. 10855603 2000