|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conclude that most subjects with hyperhomocysteinemia > or = 40 micromol/liter in the general population have the C677T mutation combined with low folate status.
|
8903338 |
1996 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C677T mutation in the methylenetetrahydrofolate reductase gene predisposes to hyperhomocysteinemia in children with familial hypercholesterolemia treated with cholestyramine.
|
9506661 |
1998 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
To assess the prevalence of the C677T MTHFR genotype and the contribution of this genotype to hyper-tHcy in patients with IBD.
|
10446107 |
1999 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
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 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, with high-dose folate supplementation, the hyperhomocysteinemia in patients with ESRD does not seem to be caused by the 677C-->T mutation in the MTHFR gene.
|
10430972 |
1999 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for the methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism may cause hyperhomocysteinaemia, a recognized risk factor for stroke, in individuals with folate deficiency.
|
10583261 |
1999 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for the C677T mutation in the gene for 5,10-methylenetetrahydrofolate reductase (MTHFR) is frequently associated with hyperhomocysteinemia, particularly in individuals with low levels of serum folate, and has been directly associated with cardiovascular disease in certain populations.
|
9974399 |
1999 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for the common (677C-->T) mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with hyperhomocysteinemia, but there is uncertainty as to the association between this mutation and coronary artery disease (CAD).
|
10595952 |
1999 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events.
|
10780318 |
2000 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene is associated with reduced enzyme activity, hyperhomocysteinaemia and increased risk for atherosclerosis in homozygotes.
|
11094304 |
2000 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
The lowering action of carbamazepine treatment on folate levels seems to be associated with hyperhomocysteinaemia, which seems to be related to the homozygous condition for the MTHFR 677C-->T mutation.
|
11277368 |
2000 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Homozygosity for a common polymorphism in the MTHFR gene (C677T, Ala to Val) is associated with an increased risk of neural tube defects and hyperhomocysteinemia in individuals with low folate levels.
|
10695265 |
2000 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genotyping for mutations that are possible causes of moderate hyperhomocysteinemia, such as the thermolabile variant (C677T) of methylenetetrahydrofolate reductase (MTHFR), does not seem useful to identify individuals at higher risk for venous thromboembolism.
|
11011848 |
2000 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C677T mutation in the MTHFR gene has recently been described as a cause of mild hyperhomocysteinemia.
|
11124649 |
2000 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Moreover, the 677 C-->T genotype is a strong factor for predisposition to hyperhomocysteinemia and recurrent risk of stroke that might also be prevented with folate supplementation.
|
10830195 |
2000 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Women with preeclampsia who had mild hyperhomocysteinemia (values >75th percentile) had a significant excess of the TT genotype (homozygosity for C677T mutation) relative to the women with preeclampsia who did not have hyperhomocysteinemia (odds ratio, 8.2; 95% confidence interval, 1.8-39).
|
11228493 |
2001 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recent studies have shown that a common mutation (nucleotide 677 C-->T) in the methylenetetrahydrofolate reductase (MTHFR) gene may contribute to mild hyperhomocysteinemia and, therefore, to the incidence of coronary artery disease.
|
11319193 |
2001 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
A common mutation in methylenetetrahydrofolate reductase (MTHFR), 677C-->T, is associated with reduced enzyme activity, a thermolabile enzyme and mild hyperhomocysteinemia, a risk factor for vascular disease.
|
11395038 |
2001 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hyperhomocysteinaemia and MTHFR C677T gene polymorphism in renal transplant recipients.
|
11420199 |
2001 |
|
Hyperhomocysteinemia
|
|
0.100 |
GeneticVariation
|
BEFREE |
This study demonstrates that hyperhomocysteinemia is frequent in heart transplant recipients and that the 677C-->T transition in the MTHFR gene independently and unfavorably influences homocysteine metabolism in this group of patients.
|
11744407 |
2001 |