|
Hyperhomocysteinemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.
|
7825569 |
1995 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
|
8554066 |
1996 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Although it is accepted that moderate hyperhomocysteinemia significantly increases the risk for coronary, cerebrovascular, and peripheral vascular diseases, our data suggest that a mutation of the MTHFR gene, which has been associated with a thermolabile form of the enzyme and with hyperhomocysteinemia in subjects with plasma folate below the median, does not appear to be significantly associated with risk for premature coronary artery disease or for restenosis after coronary angioplasty.
|
8994411 |
1997 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A common mutation in MTHFR, an alanine-to-valine substitution, may contribute to mild hyperhomocysteinemia in coronary artery disease (CAD).
|
9102178 |
1997 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Together, our data demonstrate that the extent of hyperhomocysteinemia in hemodialysis patients is not only the result of uremia or folate status, but is also genetically determined by the (+/+) MTHFR genotype.
|
9264011 |
1997 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A common mutation (C677T) in the gene encoding for methylenetetrahydrofolate reductase (MTHFR) is responsible, in the homozygous state, for decreased enzyme activity and mild hyperhomocysteinemia and is associated with increased risk for cardiovascular disease.
|
9327760 |
1997 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The C677T mutation in the methylenetetrahydrofolate reductase gene predisposes to hyperhomocysteinemia in children with familial hypercholesterolemia treated with cholestyramine.
|
9506661 |
1998 |
|
Hyperhomocysteinemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutated 5,10-methylenetetrahydrofolate reductase and moderate hyperhomocysteinaemia.
|
9587041 |
1998 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A subset of these women have hyperhomocysteinaemia and a mutation of the gene for thermolabile methylenetetrahydrofolate reductase (MTHFR).
|
9587043 |
1998 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A polymorphism, C-->T677, in the methylenetetrahydrofolate reductase (MTHFR) gene has been identified as a cause of mild hyperhomocysteinemia, a risk factor for venous thrombosis.
|
9609218 |
1998 |
|
Hyperhomocysteinemia
|
0.400 |
Biomarker
|
disease |
BEFREE |
Since hyperhomocysteinemia seems to be determined by both genetic and environmental factors, we studied the interactions between MTHFR (phenotype and genotype) and folate status, including methyltetrahydrofolate (methylTHF), the product of MTHFR, on the homocysteine concentration in 52 healthy subjects, (28 women and 24 men; mean age, 32.7 years).
|
9826223 |
1998 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We conclude that although the C677T/MTHFR mutation is a major cause of mild hyperhomocysteinemia, the mutation does not increase cardiovascular risk.
|
9843457 |
1998 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We calculated the prevalences of prothrombin G20210A, factor V G1691A (also associated with high risk for DVT) and homozygous methylenetetrahydrofolate reductase (MTHFR) C677T (associated with increased susceptibility to develop hyperhomocysteinemia) in 118 patients with a first episode of DVT and in 416 healthy controls.
|
10065893 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
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 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Lower levels of dietary folate intake and the C677T mutation in MTHFR are important causes of mild hyperhomocysteinemia and may therefore contribute to vascular disease in the community.
|
10318658 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The knowledge of the MTHFR mutation status may therefore help to identify subjects at high risk for hyperhomocysteinemia.
|
10360632 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for the T677 allele of the methylenetetrahydrofolate reductase (MTHFR) gene, which encodes for a thermolabile enzyme associated with hyperhomocysteinemia, has been found to be increased in schizophrenic patients.
|
10424670 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hyperhomocysteinemia-causing MTHFR 677T variant was detected in only 20% of Black South Africans (no homozygotes) versus 56% of Caucasians with 12% homozygotes (P<0.0001).
|
10428303 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mild hyperhomocysteinemia seen in fasting conditions is due to mild impairment in the methylation pathway (i.e. folate or B12 deficiencies or methylenetetrahydrofolate reductase thermolability).
|
10448523 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A C->T677 polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene has been identified as a cause of mild hyperhomocysteinemia, a risk factor for arterial thrombosis.
|
10456448 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
Biomarker
|
disease |
CTD_human |
Multiple logistic regression analysis showed that MTHFR TT genotype was an independent predictor of hyperhomocysteinemia in epileptic patients receiving anticonvulsants (phenytoin and carbamazepine but not valproic acid), suggesting that gene-drug interactions induce hyperhomocysteinemia.
|
10459572 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
Therapeutic
|
disease |
CTD_human |
Multiple logistic regression analysis showed that MTHFR TT genotype was an independent predictor of hyperhomocysteinemia in epileptic patients receiving anticonvulsants (phenytoin and carbamazepine but not valproic acid), suggesting that gene-drug interactions induce hyperhomocysteinemia.
|
10459572 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Multiple logistic regression analysis showed that MTHFR TT genotype was an independent predictor of hyperhomocysteinemia in epileptic patients receiving anticonvulsants (phenytoin and carbamazepine but not valproic acid), suggesting that gene-drug interactions induce hyperhomocysteinemia.
|
10459572 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analysed three candidate polymorphisms in genes involved in the PC anticoagulant pathway, consisting of two polymorphic sites in the 5' non-transcribed region of the PC gene, -1654 C/T and -1641 A/G, with three known combinations (TA, CA and CG) that influence the protein C plasma level; one polymorphic site (4070 A/G) in exon 13 of the FV gene, which influences the plasma factor V concentration, and one polymorphic site (677 C/T) in the methylenetetrahydrofolate reductase gene, which is often associated with moderate hyperhomocysteinaemia.
|
10519989 |
1999 |
|
Hyperhomocysteinemia
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To determine the role of hyperhomocysteinemia in the pathogenesis of stroke in children with sickle cell disease (SCD), Hcy levels and C677T MTHFR genotype were determined in 40 patients homozygous for hemoglobin SS and compared with 197 healthy children.
|
10524453 |
1999 |