학술논문

Hyperhomocysteinemia and the methylene tetrahydrofolate reductase C677T mutation in splanchnic vein thrombosis.
Document Type
Article
Source
European Journal of Haematology. Feb2011, Vol. 86 Issue 2, p167-172. 6p. 4 Charts.
Subject
*THROMBOSIS
*GENETIC mutation
*HOMOCYSTEINE
*CARDIOVASCULAR diseases risk factors
*CHOLESTEROL metabolism
*GENES
Language
ISSN
0902-4441
Abstract
Introduction: The role that hyperhomocysteinemia (HH) and the C677T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) play in splanchnic vein thrombosis (SVT) remains unclear due to this unusual thrombotic location. Objective: To analyse the possible association of HH with the C677T mutation in the MTHFR gene in SVT. Material and methods: We determined homocysteine levels and the C677T MTHFR mutation, along with classical cardiovascular risk factors, in 48 patients with SVT (18 Budd-Chiari syndrome, 11 mesenteric vein thrombosis, 19 portal vein thrombosis) and 84 controls. Results: In the univariate analysis, patients with SVT showed statistically higher homocysteine levels ( P = 0.044). After adjusting for total cholesterol, differences disappeared ( P = 0.256). However, no differences in homocysteine levels were observed when comparing the three SVT types ( P = 0.199), even after adjusting for age and total cholesterol ( P = 0.095). In addition, the prevalence of the TT genotype was no different when controls were compared with patients with SVT ( P = 0.253) or with SVT subtypes ( P = 0.885). No association was found between HH (>15 μ) and the TT genotype in cases ( P = 0.404), controls ( P = 0.178), or in the different SVT subtypes ( P = 0.495). Conclusions: Our results suggest that HH and the homozygous genotype in the MTHFR C677T mutation do not seem to play a role in SVT development. [ABSTRACT FROM AUTHOR]