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: rs765625943
rs765625943
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.010 GeneticVariation BEFREE Cerebrovascular events in patients with significant stenosis of the carotid artery are associated with hyperhomocysteinemia and platelet antigen-1 (Leu33Pro) polymorphism. 11739968 2001
dbSNP: rs1801131
rs1801131
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.020 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437 2018
dbSNP: rs1801131
rs1801131
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.020 GeneticVariation BEFREE The MTHFR rs1801133 CT genotype, TT genotype and T allele; the MTHFR rs1801131 AC genotype, CC genotype and C allele; the MTRR rs1801394 GA genotype, GG genotype and G allele; and the MTRR rs162036 AG genotype and AG+GG genotypes were associated with the efficacy of folic acid therapy for HHcy (P<0·05). 29644956 2018
dbSNP: rs1194897557
rs1194897557
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.020 GeneticVariation BEFREE We report on 3 sisters with severe hyperhomocysteinemia due to homozygosity for the CBS 833T-->C mutation. 10807759 2000
dbSNP: rs1194897557
rs1194897557
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.020 GeneticVariation BEFREE Mild hyperhomocysteinemia is associated to mutations either in cystathionine beta-synthase (CBS) or in 5,10-methylenetetrahydrofolate reductase (MTHFR) genes.In 1995, Sebastio et al. characterized a 68 bp insertion in cis with the most common CBS mutation (T833C) detected in homocystinuric patients. 10190322 1999
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.060 GeneticVariation BEFREE The single nucleotide polymorphism of the gene 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T (or rs1801133</span>) is the most established genetic factor that increases plasma total homocysteine (tHcy) and consequently results in hyperhomocysteinemia. 29722849 2018
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.060 GeneticVariation BEFREE The T allele of MTHFR 677 C ➔ T (rs1801133) was associated with HHcys, higher %MMA, and lower %DMA, but not with skin lesions. 29421402 2018
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.060 GeneticVariation BEFREE The MTHFR rs1801133 CT genotype, TT genotype and T allele; the MTHFR rs1801131 AC genotype, CC genotype and C allele; the MTRR rs1801394 GA genotype, GG genotype and G allele; and the MTRR rs162036 AG genotype and AG+GG genotypes were associated with the efficacy of folic acid therapy for HHcy (P<0·05). 29644956 2018
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.060 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437 2018
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.060 GeneticVariation BEFREE The functional variant rs1801133 has been linked to hyperhomocysteinemia and dopaminergic cell death. 25909872 2015
dbSNP: rs1801133
rs1801133
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.060 GeneticVariation BEFREE All subjects were genotyped for 13 polymorphic variants in the genes of xenobiotics detoxification CYP1A1 (rs2606345, rs4646903, and rs1048943), GSTM1 (Ins/del), GSTT1 (Ins/del), ABCB1 rs1045642); immune and inflammation response IL-6 (rs1800795), TNF-a (rs1800629), MBL2 (rs7096206), CCR5 (rs333), NOS3 (rs1799983), angiotensin-converting enzyme ACE (rs4340), and occlusive vascular disease/hyperhomocysteinemia MTHFR (rs1801133). 23107763 2013
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE these 3 men were diagnosed as hyperhomocysteinemia and MTHFR C677T homozygous TT genotype. 30633186 2019
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation 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. 31409160 2019
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Methylenetetrahydrofolate reductase C677T variant and hyperhomocysteinemia in subarachnoid hemorrhage patients from India. 29926428 2018
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Association of vitamin B12 mediated hyperhomocysteinemia and methylenetetrafolate reductase (C677T) gene polymorphism with cognitive impairment: A population based study from North India. 30245375 2018
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437 2018
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. 29600437 2018
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE Our study provided evidence that hyperhomocysteinemia (HHcy) and MTHFR C677T polymorphism were associated with IS. 29390494 2017
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To evaluate the genetic polymorphism of MTHFR C677T among β-TM patients and its prospective contribution to Hhcy and related oxidative changes. 27187171 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T and hyperhomocysteinemia have been identified as risk factors for autism worldwide. 27755291 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To investigate the distribution of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms, known to be involved in hyperhomocysteinemia-related cardiovascular risk, in elite athletes. 26282718 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE MTHFR C677T is a common gene polymorphism that has been shown to be associated with hyperhomocysteinemia. 28002332 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The interaction analysis showed that age and peripheral arterial disease played an interactive role in the association between HHcy and AAA, while drinking status played an interactive role in the association between MTHFR C677T polymorphism and AAA. 26865327 2016
dbSNP: rs1217691063
rs1217691063
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE The meta-analysis suggests that MTHFR C677T genetic polymorphism is significantly associated with susceptibility to IS, which provides evidence supporting hyperhomocysteinemia as a risk factor for stroke. 26776436 2016
dbSNP: rs397507444
rs397507444
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0598608
Disease:
Hyperhomocysteinemia
0.100 GeneticVariation BEFREE To investigate the distribution of MTHFR C677T and A1298C as well as PON1 Q192R gene polymorphisms, known to be involved in hyperhomocysteinemia-related cardiovascular risk, in elite athletes. 26282718 2016