Author/Editor		Gregorič, Nadan; Fišer, Gabrijel
Title		Polimorfizem v genu za metilentetrahidrofolat reduktazo (MTHFR C677T) - povezava z vensko trombozo in hiperhomocisteinemijo
Type		monografija
Place		Ljubljana
Publisher		Univerza v Ljubljani, Medicinska fakulteta
Publication year		2005
Volume		str. 30
Language		slo
Abstract		Background: Polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene, causing thermolability of this enzyme, is known to be associated with elevated plasma homocysteine level (hyperhomocysteinemia). Hyperhomocysteinemia is known to be an independent risk factor for venous thromboembolic disease. Homocysteine in high concentration is presumably connected with endothelial damage and cessation of endothelial cell growth. Furthermore, it enhances blood coagulation. Aim: To determine the prevalence of MTHFR C677T gene polymorphism in healthy subjects and in patients and its association with elevated plasma homocysteine level and venous thrombosis. Hypothesis: Polymorphism of the MTHFR C677T gene is more frequently observed in patients with venous thrombosis and is associated with elevated homocysteine level. Subjects and methods: 198 patients with venous thrombosis and 191 healthy subjects were included in the retrospective study. The total plasma homocysteine level was determined from collected plasma. DNA was isolated from peripheral blood leukocytes and genotyped for MTHFR C677T with real-time polymerase chain reaction. Results: CC genotype was determined in 41.4%, CT genotype in 45.0 % and the TT in 13.6% of all subjects. In patients, the TT genotype frequency was slightly higher as in the healthy subjects (14.2% and 13.1%, respectively), but statistically insignificant. The healthy subjects and patients did not differ in total plasma homocysteine (t-test, p = 0.085). (Abstract truncated at 2000 characters)
Descriptors		THROMBOPHLEBITIS HOMOCYSTEINE POLYMORPHISM (GENETICS) GENOTYPE METHYLENETETRAHYDROFOLATE DEHYDROGENASE POLYMERASE CHAIN REACTION RETROSPECTIVE STUDIES