rs1217691063, MTHFR

N. diseases: 614
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE All participants had a thrombotic workup that included the following: genetic markers: factor V Leiden G1691A and G20210A prothrombin mutations, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms; protein assays: protein C, protein S and antithrombin; other tests: blood typing and screening for hyperhomocysteinemia. 23337711 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Association of methylenetetrahydrofolate reductase (MTHFR) 677C>T gene polymorphism with hyperhomocysteinemia, renal failure, and cardiovascular events is controversial. 23534584 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The OR of hyperhomocysteinaemia were 1.52 (95 % CI 1.39, 1.67) and 2.32 (95 % CI 2.07, 2.61) for participants aged 55-65 and 65-75 v. 45-55 years; 1.27 (95 % CI 1.18, 1.37) for participants with a BMI ≥ 25 v. < 25 kg/m²; 1.14 (95 % CI 1.06, 1.23) for participants with v. without antihypertensive treatment; 1.09 (95 % CI 1.00, 1.18) for residents inland v. coastal; 0.89 (95 % CI 0.82, 0.97) and 0.83 (95 % CI 0.74, 0.92) for participants with moderate and high v. low physical activity levels; 1.54 (95 % CI 1.41, 1.68) and 2.47 (95 % CI 2.17, 2.81) for participants with a glomerular filtration rate 60-90 and < 60 v. ≥ 90 ml/min per 1.73 m²; and 1.20 (95 % CI 1.07, 1.35) and 3.81 (95 % CI 3.33, 4.36) for participants with CT and TT v. CC genotype at methylenetetrahydrofolate reductase 677C>T polymorphism, respectively. 22850357 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The present study attempts to understand the role of methylenetetrahydrofolate reductase C677T (MTHFR C677T) in recurrent pregnancy losses in North Indian women because of hyperhomocysteinemia in light of serum folate and vitamin B₁₂. 23612630 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Out of three homozygous cases for C677T MTHFR polymorphism, two of these patients had hy</span>perhomocysteinemia. 23337710 2013
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Coenzyme Q10, hyperhomocysteinemia and MTHFR C677T polymorphism in levodopa-treated Parkinson's disease patients. 22354693 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. 22377704 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A statically significant, albeit weak, correlation between the MTHFR C677T mutation and hyperhomocysteinemia was found in all three diseases. 22928918 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE One of the plausible reasons for susceptibility of individuals with MTHFR C677T in the studied population to various disorders is the high frequency of hyperhomocysteinemia and vitamin B12 deficiency in the 'healthy population'. 21878957 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T heterozygous allele in the MTHFR gene was found to be associated with hyperhomocysteinemia in the patient and other family members. 22665972 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE In conclusion, hyperhomocysteinaemia due to the MTHFR 677 C→T polymorphism is associated with enhanced in vivo lipid peroxidation and platelet activation that are reversible, at least in part, following folic acid supplementation. 22782530 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The variant methylenetetrahydrofolate reductase (MTHFR) C677T is associated with elevated homocysteine levels, cardiovascular disease and stroke, which supports a causal relationship between hyperhomocysteinemia and vascular disease. 23285280 2012
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE These data suggest that both MTHFR C677T and eNOS G894T variants should be regarded as genetic risk factors for hyperhomocysteinemia in patients with cognitive decline. 21607713 2011
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE We found a statistically significant higher frequency of hyperhomocysteinemia in the SSHL group compared with controls, and that this was also associated with the presence of homozygosity for the MTHFR C677T mutation. 20798492 2011
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Our results suggest that HH and the homozygous genotype in the MTHFR C677T mutation do not seem to play a role in SVT development. 21070369 2011
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE However, MTHFR c.677C>T homozygosity with lifelong hyperhomocysteinemia and hence hypomethylation associate with increased risk of esophagus and gastric cancer, and with decreased risk of colorectal cancer. 20473868 2011
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Polymorphism of MTHFR C677T, serum vitamin levels and cognition in subjects with hyperhomocysteinemia in China. 20670473 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T gene polymorphism associated with a predisposition to hyperhomocysteinemia could constitute a useful predictive marker for ischemic stroke in type 2 diabetic Chinese patients. 19934557 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE A 31 year old woman with essential hypertension grade III and branch retinal vein occlusion with homozygous C677T MTHFR hyperhomocysteinemia and high Lp(a) levels. 19135738 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE our study suggests that HHcy is a possible risk factor for RVT development, while no association was found between RVT and the C677T MTHFR genotype. 19825913 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Hyperhomocysteinemia in patients homozygotes for the C677T mutation may interfere with erection mechanisms and thus be responsible for ED. 19694922 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE This case-control study examines the potential association among hyperhomocysteinaemia (hyper-Hcy), low serum folate and vitamin B(12) levels and the common C677T mutation of the MTHFR gene in patients with AMVT. 19846322 2010
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The C677T polymorphism reduces enzymatic capability by 50% and causes hyperhomocysteinaemia. 17714520 2009
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The MTHFR C677T polymorphism showed no direct association with hyperhomocysteinemia or increased mean plasma concentrations of Hcy. 19565133 2009
Hyperhomocysteinemia
CUI: C0598608
Disease: Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR 677C/T polymorphism is associated with the risk of vascular diseases due to hyperhomocysteinemia. 19646848 2009