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rs754980119
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HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
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0.810 |
GeneticVariation
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BEFREE |
The diagnosis of MTHFR deficiency was confirmed based on extremely reduced fibroblast MTHFR activity (0.3 nmol CHO/mg prot/hr) as well as mutation analysis that revealed two variants in the MTHFR gene, a splice site mutation p (IVS5-1G>A), as well as a missense mutation (c.155 G>A; p. Arg52Gln).
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25079578 |
2014 |
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rs1801133
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Schizophrenia
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0.760 |
GeneticVariation
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BEFREE |
The common mutations found to be associated with schizophrenia and MTHFR are A222V, E429A, and R594Q.
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28427558 |
2017 |
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rs1801133
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Schizophrenia
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0.760 |
GeneticVariation
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BEFREE |
The investigation of the catechol-O-methyltransferase (COMT-[rs4680]) and methylenetetrahydrofolate reductase (MTHFR-[rs1801133]) polymorphisms' interaction might shed light into the pathogenetic mechanisms of the cognitive dysfunction in schizophrenia.
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23353103 |
2013 |
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rs1801133
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Schizophrenia
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0.760 |
GeneticVariation
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BEFREE |
To gain insight into the neural and molecular mechanisms of error processing, we used functional MRI to examine effects of a genetic variant in methylenetetrahydrofolate reductase (MTHFR 677C>T, rs1801133) that increases risk for schizophrenia and that has been specifically associated with increased perseverative errors among patients.
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21980405 |
2011 |
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rs1801133
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Schizophrenia
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0.760 |
GeneticVariation
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BEFREE |
Among the Scandinavian patients the functional MTHFR SNP rs1801133 (C677T) significantly affected age at onset of schizophrenia in a dose-dependent manner (P = 0.0015), with lower age of onset with increasing numbers of the mutant T-allele.
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19746410 |
2010 |
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rs1801133
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Schizophrenia
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0.760 |
GeneticVariation
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BEFREE |
However, since our meta-analysis results demonstrated strong support for association of rs1801133 with schizophrenia, further replication studies based on a gene-wide approach need to be considered.
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20692813 |
2010 |
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rs1801133
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Schizophrenia
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0.760 |
GeneticVariation
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BEFREE |
A second polymorphism, methylenetetrahydrofolate reductase (MTHFR) 677C --> T (rs1801133), has been associated with overall schizophrenia risk and executive function impairment in patients, and may influence dopamine signaling through mechanisms upstream of COMT effects.
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18988738 |
2008 |
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rs9651118
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Moyamoya disease 1
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0.710 |
GeneticVariation
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BEFREE |
Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases.
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29273593 |
2018 |
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rs9651118
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Moyamoya Disease
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0.710 |
GeneticVariation
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BEFREE |
Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases.
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29273593 |
2018 |
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rs1217691063
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Obesity
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0.100 |
GeneticVariation
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BEFREE |
There was no difference in the distribution of the <i>MTHFR</i> 677C>T polymorphism between individuals with NW and overweight/obesity; neither when they were divided by overweight vs NW, nor when we contrasted obese vs NW.
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31496910 |
2019 |
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rs1217691063
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Myocardial Infarction
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0.100 |
GeneticVariation
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BEFREE |
Elevated Hcy levels in the presence of the T allele in the C677T gene and of the A allele in the A1298C gene are associated with AMI and massive and submassive PE.
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29916259 |
2019 |
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rs1217691063
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Breast Carcinoma
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0.100 |
GeneticVariation
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BEFREE |
Furthermore, it has been shown in patients with breast cancer a risk of presenting with an aggressive biophenotype about twice or three times higher in the presence of the C677T and A1298C polymorphisms, respectively.
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31523170 |
2019 |
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rs1217691063
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Precursor Cell Lymphoblastic Leukemia Lymphoma
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0.100 |
GeneticVariation
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BEFREE |
Comprehensive analysis of Methylenetetrahydrofolate reductase C677T in younger acute lymphoblastic leukemia patients: A single-center experience.
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30545275 |
2019 |
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rs1217691063
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Impaired cognition
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0.100 |
GeneticVariation
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BEFREE |
Low folate intake and genetic variants in folate metabolism, such as the methylenetetrahydrofolate reductase (MTHFR) 677 C>T polymorphism, have been suggested to impact brain function and increase the risk for cognitive decline and late-onset Alzheimer's disease.
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30288696 |
2019 |
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rs1217691063
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Cardiovascular Diseases
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0.100 |
GeneticVariation
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BEFREE |
Thrombophilic profile (factor V G1691A (Leiden), factor V H1299R (R2), prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIII V34L, β-fibrinogen-455 G-A and plasminogen activator inhibitor (PAI)-1 4G/5G) was evaluated using the cardiovascular diseases (CVD) StripAssay based on DNA isolation, PCR and reverse hybridisation.
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31300468 |
2019 |
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rs1217691063
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Hypertensive disease
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0.100 |
GeneticVariation
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BEFREE |
Via MTHFR C677T polymorphism, the findings in the present study demonstrated that there exists evidence on causal link between Hcy concentration and the risk of hypertension.
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31769183 |
2019 |
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rs1217691063
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Parkinson Disease
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0.100 |
GeneticVariation
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BEFREE |
We discovered the existence of no substantial link between the C677T and A1298C polymorphism and PD risk in any genetic framework comparisons.
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31428686 |
2019 |
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rs1217691063
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Breast Carcinoma
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0.100 |
GeneticVariation
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BEFREE |
The results indicated that, for Latinos, the C677T polymorphism is associated with a significant risk for developing breast cancer, whereas the A1289C polymorphism does not.
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30877449 |
2019 |
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rs1217691063
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cervical cancer
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0.100 |
GeneticVariation
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BEFREE |
Association of MTHFR 677C>T Polymorphism with Susceptibility to Ovarian and Cervical Cancers: A Systematic Review and Meta-Analysis.
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31554347 |
2019 |
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rs1217691063
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Diabetic Nephropathy
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0.100 |
GeneticVariation
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BEFREE |
Interaction of MTHFR C677T polymorphism with smoking in susceptibility to diabetic nephropathy in Chinese men with type 2 diabetes.
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30397262 |
2019 |
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rs1217691063
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Childhood Acute Lymphoblastic Leukemia
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0.100 |
GeneticVariation
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BEFREE |
Our findings suggest that C677T polymorphism of MTHFR seems to be a good marker for MTX-related toxicity in ALL.
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30545275 |
2019 |
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rs1217691063
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Hyperhomocysteinemia
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0.100 |
GeneticVariation
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BEFREE |
He was found as having MTHFR C677T homozygote and plasminogen activator inhibitor-1 4G/5G heterozygote gene mutation with high homocysteine level of 22.90 µmol/L, and he was diagnosed as hyperhomocysteinemia.
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31409160 |
2019 |
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rs1217691063
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Acute lymphocytic leukemia
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0.100 |
GeneticVariation
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BEFREE |
We observed a significant decrease in risk for the C677T polymorphism (OR range=0.54-0.75, p<0.01) and a significant increase in risk for the A1298C polymorphism (OR range=1.28-2.52, p<0.05) in developing ALL for all genetic models.
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31188929 |
2019 |
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rs1217691063
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Schizophrenia
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0.100 |
GeneticVariation
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BEFREE |
While C677T is known to play major roles in the risk of adult schizophrenia, our finding for the first time suggests an age-specific association between MTHFR polymorphisms and schizophrenia.
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31302825 |
2019 |
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rs1217691063
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Myeloid Leukemia, Chronic
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0.100 |
GeneticVariation
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BEFREE |
Methylenetetrahydrofolate Reductase Gene C677T and A1298C Polymorphic Sequence Variations Influences the Susceptibility to Chronic Myeloid Leukemia in Kashmiri Population.
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31396477 |
2019 |