Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
A point mutation (C677T) in the gene encoding methylenetetrahydrofolate reductase, an enzyme involved in homocysteine remethylation, has been reported to render the enzyme thermolabile and less active and has been associated with elevated tHcy in homozygous carriers (+/+ genotype) as well as with increased risk of premature cardiovascular disease.
|
8873653 |
1996 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
We conducted a cross-sectional analysis of demographics, the diet, tHcy level, presence of the C677T mutation in the methylenetetrahydrofolate reductase gene (a common genetic cause of elevated tHcy) in children, and the prevalence of parental CVD. tHcy increased after puberty and was inversely related to parental educational level.
|
9323065 |
1997 |
Cardiovascular Diseases
|
|
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 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
A common missense mutation of the methylenetetrahydrofolate reductase (MTHFR) gene (C677T) has been shown to be a risk factor for premature cardiovascular disease and neural tube defect.
|
9774778 |
1998 |
Cardiovascular Diseases
|
|
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 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Elevated homocysteine is an independent risk factor for cardiovascular disease and has been associated with a common C677T polymorphism in the methylenetetrahydrofolate reductase (MTHFR) gene.
|
10329022 |
1999 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Particular emphasis has been given to the role of two common polymorphisms (MTHFR 677C-->T, 1298A-->C) in cardiovascular disease, cerebrovascular disease, venous thrombosis, longevity, neural tube defects, pregnancy/preeclampsia, diabetes, cancer, psychiatry, renal failure and renal replacement therapy.
|
10720211 |
2000 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
4) The C677T transition of the methylenetetrahydrofolate reductase gene causes a moderate increase in tHcy but no or only minor increased CVD risk.
|
10919921 |
2000 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
The authors investigated the relation between the MTHFR 677 C/T polymorphism and risk of cardiovascular disease mortality in a cohort study of 12,239 women initially aged 52--67 years with a maximum follow-up time of 18 years (1976--1995; 153,732 woman-years of follow-up).
|
11282795 |
2001 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C677T genotype of MTHFR is associated with CVD in ESRD and may be a more meaningful marker than tHcy for abnormal homocysteine metabolism in ESRD.
|
11532106 |
2001 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
We examined the relationship of two polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, the 677C-->T and 1298A-->C variants, to MTHFR activity, homocysteine concentrations, and risk of CVD in a population of 190 vascular disease patients and 601 apparently healthy controls.
|
11692165 |
2001 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Some examples include the alanine-to-valine substitution at codon 222 (Ala222-->Val) [DNA: C-to-T substitution at nucleo-tide 677 (677C-->T)] in methylenetetrahydrofolate reductase (NADPH) and the cofactor FAD (in relation to cardiovascular disease, migraines, and rages), the Pro187-->Ser (DNA: 609C-->T) mutation in NAD(P):quinone oxidoreductase 1 [NAD(P)H dehy-drogenase (quinone)] and FAD (in relation to cancer), the Ala44-->Gly (DNA: 131C-->G) mutation in glucose-6-phosphate 1-dehydrogenase and NADP (in relation to favism and hemolytic anemia), and the Glu487-->Lys mutation (present in one-half of Asians) in aldehyde dehydrogenase (NAD + ) and NAD (in relation to alcohol intolerance, Alzheimer disease, and cancer).
|
11916749 |
2002 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Hyperhomocysteinemia, serum folate levels and both C677T and A1298C MTHFR mutations are associated with CVD in HD patients.
|
12187094 |
2002 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutant alleles with the 677C-->T and 1298A-->C polymorphisms of the MTHFR gene, and consequent lower methylentetrahydrofolate reductase enzyme activity, have been related to higher plasma homocysteine levels, which are associated with cardiovascular diseases.
|
12356947 |
2002 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this review we have focused on the correlations between plasma homocysteine levels, the incidence of cardiovascular disease and the cytosine-to-thymidine substitution at nucleotide 677 (C677T) of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, coding for a key enzyme in methionine-homocysteine metabolism.
|
14728017 |
2001 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR) is associated with an increase in total homocysteine serum levels (tHcy), described as a risk factor for cardiovascular disease.
|
15073633 |
2005 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
The guanine to thymine polymorphism at position 894 of the eNOS gene (resulting in a change from glutamate to aspartate [Asp] at codon 298 [Asp298]) and the methylenetetrahydrofolate reductase (MTHFR) gene polymorphism (C677T) have been reported to be associated with atherosclerosis and cardiovascular disease.
|
15494775 |
2004 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
In end-stage renal disease, MTHFR C677T polymorphisms were not associated with cardiovascular disease or mortality.
|
15618240 |
2005 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
An association between the methylenetetrahydrofolate reductase (MTHFR) C677T mutation and inflammation markers related to cardiovascular disease.
|
15837084 |
2005 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
Plasma total homocysteine concentrations were highest in the subgroup of men with both polymorphisms, MTHFR 677C-->T TT and cSHMT 1420C-->T TT, consistent with a higher risk of CVD in this subgroup.
|
16046727 |
2005 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
To examine the effects of changes in various lifestyle habits and lifestyle related biological CVD risk markers on changes in tHcy in relation to MTHFR(C677T) genotype.
|
16340945 |
2006 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results suggest that the MTHFR C677T variant mildly influences CVD.
|
16380767 |
2005 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
In cardiovascular diseases, the MTHFR C677T mutation: 1) is associated with plasma Hcy levels; 2) is an independent risk factor for cardiovascular diseases, 3) is associated with plasma BNP levels, and 4) plasma Hcy levels are positively correlated with plasma BNP levels.
|
16958597 |
2006 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
We investigated total homocysteine (tHcy) concentrations and relations between tHcy and folate, cobalamin (Cbl), genetic polymorphisms (MTHFR 677C > T, MTHFR 1298A > C, MTHFR 1793G > A), blood pressure (BP), body mass index (BMI), cholesterol, triglycerides, sports activities, family and individual history of cardiovascular disease (CVD) and lifestyle issues in 264 healthy children and adolescents (2-17 y).
|
17065574 |
2006 |
Cardiovascular Diseases
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this large-scale prospective study, the association of homocysteine with CVD was markedly attenuated after adjusting for risk factors and was not modified by MTHFR 677C>T or intake of folate or B-vitamins.
|
17332146 |
2007 |