The methylenetetrahydrofolate reductase C677T gene mutation is associated with hyperhomocysteinemia, cardiovascular disease and plasma B-type natriuretic peptide levels in Korea
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Sung Eun Cho
Abstract
Background: Hyperhomocysteinemia is known to be a risk factor for cardiovascular diseases and is associated with a common mutation in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene (677 C>T). The aims of this study were to confirm: 1) the association between the MTHFR C677T mutation and plasma homocysteine (Hcy) levels; 2) the MTHFR C677T mutation as a risk factor; 3) the association of the MTHFR C677T mutation and plasma B-type natriuretic peptide (BNP) levels; and 4) the correlation between Hcy and BNP levels in cardiovascular diseases.
Methods: A total of 227 patients for whom BNP was measured were enrolled in this study. Laboratory parameters included BNP, creatine kinase (CK), the myocardial isoenzyme of CK (CK-MB), troponin I (TnI), Hcy, C-reactive protein (CRP), lactate dehydrogenase (LDH), creatinine and folate. The MTHFR genotype was evaluated by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) was shown by an electrophoretic technique.
Results: The prevalence of TT homozygotes was significantly higher in patients with cardiovascular diseases than in patients without cardiovascular diseases (p=0.0001). Patients homozygous for the TT mutation had the highest plasma Hcy levels compared with wild-type CC homozygotes and CT mutant heterozygotes (p=0.0001). Plasma BNP concentrations were significantly higher in patients with MTHFR C677T mutation compared to patients without the mutation (p<0.05). Plasma BNP concentrations were positively correlated with Hcy concentrations (r=0.196, p<0.001). Multivariate logistic regression analysis showed that elevated concentrations of BNP, CRP, Hcy and the presence of the MTHFR C677T mutation independently contributed to the prediction of cardiovascular diseases.
Conclusions: 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.
Clin Chem Lab Med 2006;44:1070–5.
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©2006 by Walter de Gruyter Berlin New York
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- Point-of-care testing – can we move from anecdote to evidence?
- A long and winding road: defining the biological role and clinical importance of paraoxonases
- Point-of-care testing in the cardiovascular operating theatre
- Low-density lipoprotein receptor-related protein 5 and vitamin D receptor gene polymorphisms in relation to vitamin D levels in menopause
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- Exploring allelic imbalance within paraffin-embedded tumor biopsies using pyrosequencing technology
- Detection of circulating tumour cells in blood by quantitative real-time RT-PCR: effect of pre-analytical time
- Hereditary hyper-ACE-emia due to the Pro1199Leu mutation of somatic ACE as a potential pitfall in diagnosis: a first family outside Europe
- Molecular assay for detection of the common carnitine palmitoyltransferase 1A 1436(C>T) mutation
- Serum cytokine levels and the expression of estrogen and progesterone receptors in breast cancer patients
- Protein Z levels and prognosis in patients with acute coronary syndromes
- Determination of total bilirubin in whole blood from neonates: results from a French multicenter study
- Analysis of protein S-100B in serum: a methodological study
- Lipid peroxidation and homocysteine levels in Behçet's disease
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- Significance of Elecsys® S100 immunoassay for real-time assessment of traumatic brain damage in multiple trauma patients
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