rs397507444, MTHFR

N. diseases: 306
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE In conclusion, the 1298A>C polymorphism in the MTHFR gene is not a risk factor for is</span>chaemic stroke in paediatric patients. 29396624 2018
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE Hence, the evidence from this meta-analysis concluded that MTHFR (677C>T and 1298A>C), eNOS (+894G>T and VNTR), PDE4D SNP 83, ACE I/D, AGT 235M>T, PON1 192Q>R, and ApoE ε2ε3ε4 polymorphisms predispose individuals to ischemic stroke. 28760411 2017
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). 27629735 2016
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G>A, Factor V Leiden, MTHFR (C677T, A1298C), PAI-1, β-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes. 26951304 2016
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE The MTHFR 677C>T, 1298A>C, eNOS intron 4a/b, and ApoE polymorphisms were significantly associated with the increased risk of ischemic stroke. 26187788 2015
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE We concluded that the A1298C polymorphism and the haplotypes C-677-C-1298 and T-677-C-1298 in MTHFR might modulate the risk of ischemic stroke in the Eastern Chinese Han population. 25966188 2015
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE An analysis of the results obtained in this study and a critical review of previously published studies indicate that the A1298C polymorphism of the MTHFR gene is not related to ischemic stroke in children. 25440348 2015
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE After excluding articles that deviated from Hardy-Weinberg equilibrium in controls and the key contributors to between-study heterogeneity, significant associations between MTHFR A1298C gen</span>etic polymorphism and risk of ischemic stroke were observed in dominant (odds ratio [OR] 1.227, 95% confidence interval [CI] 1.062-1.416) and codominant (OR 1.138, 95% CI 1.007-1.286) inheritance models. 24128767 2014
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE Homocysteine levels were significantly higher in IS patients with the MTHFR C677T variant (CT and TT genotypes) (P < 10(-3)); however, the difference was not significant with the MTHFR A1298C variant (AC and CC genotypes) (P = .31). 23642756 2013
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE To compare the distributions of mutations/polymorphisms in genes affecting hemostasis (factor V Leiden - FVL, FV H1298R-FVR2, FII 20210A, b-Fib 455G>A, FXIII V34L, PAI-1 4G, HPA-1b) or homocysteine metabolism (MTHFR C677T, MTHFR A1298C) among 90 children with arterial ischemic stroke (AIS) and 103 controls, and to associate the carriage of these mutations/polymorphisms with their corresponding proteins in children with AIS. 16567932 2006
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.100 GeneticVariation BEFREE In conclusion, the C677T and A1298C polymorphisms of the MTHFR gene are genetic risk factors for hamorrhagic and ischemic stroke respectively, independent of other atherothrombotic risk factors. 17113927 2006