A polymorphism of the paraoxonase gene associated with cardiovascular disease (CROSBI ID 479145)
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Podaci o odgovornosti
Topić, Elizabeta ; Ivanišević, Ana-Maria ; Štefanović, Mario ; Nikolić, Vjeran ; Petrač, Dubravko ; Čubrilo-Turek, Mirjana
engleski
A polymorphism of the paraoxonase gene associated with cardiovascular disease
Paraoxonase (PON), a Ca+2 dependent enzyme, is a high density lipoprotein (HDL) associated esterase hydrolyzing paraoxon. Although the physiologic substrate of PON1 is unknown, a protective role against the oxidative degradation of LDL has been attributed to it. Many studies have suggested that the existence of a genetic polymorphism of PON1 gene involving Gln-to-Arg interchange at position 192 modulates PON activity toward paraoxon. Arg 192 (allele B) is associated with higher activity than Gln 192 (allele A). This polymorphism has been proposed as a genetic marker for the risk of coronary artery disease (CAD). However, data on the relationships between biallelic PON1 polymorphisms at codon 192 (A and B alleles) are very controversial. This study was undertaken to evaluate the frequency of high and low activity phenotypes in a control population of healthy individuals taking no medication, and in a group of patients with cardiovascular disease. Restriction polymorphism of PON1 A and B alleles was detected on DNA isolated from EDTA blood by the PCR-RFLP method. Leukocyte DNA was isolated by standard phenol/chloroform extraction and ethanol precipitation protocols. A 99 base pair fragment covering the region containing the mutation was amplified by polymerase chain reaction using PCR Core Kit (Roche, Mannheim, Germany), with primers (MWG Biotech, Ebersberg Germany) described by Humbert et al, in a Progene Thermal Cycler (Techne, Cambridge, England). PCR products were digested with A1W1, separated by agarose gel (3%) electrophoresis and visualized by use of ethidium bromide. Allele A (glutamine) corresponded to a 99 base pare fragment and allele B (arginine) to a 65 and 34 base pair fragment. Results of the study indicated a difference in biallelic polymorphism between the control group and cardiovascular patients as well as the association of Arg Ž Glu 192 polymorhism with cardiovascular disease.
paraoxonase; CAD
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nije evidentirano
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Podaci o prilogu
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nije evidentirano
Podaci o skupu
7. Bergmeyer Conference. IFCC-Roche Diagnostic Master Discussion Improving the clinical value of laboratory data
predavanje
01.02.1999-03.02.1999
Tutzing, Njemačka