Naslov
Frequency of Q192R, L55M and C(-108)T polymorphisms of PON1 and S311C polymorphism of PON2 gene in healthy Croatian population

Autori
Grdić, Marija ; Barišić, Karmela ; Rumora, Lada ; Salamunić, Ilza ; Žanić-Grubišić, Tihana ; Juretić, Dubravka

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Book of abstract Congress of the Croatian Society of Biochemistry and Molecular Biology on the occasion of the 30th Anniversary with international participation / Kovarik, Zrinka - Zagreb : Hrvatsko društvo za biokemiju i molekularnu biologiju (HDBMB), 2006

Skup
Congress of the Croatian Society of Biochemistry and Molecular Biology on the occasion of the 30th Anniversary with international participation

Mjesto i datum
Vodice, Hrvatska, 03.10.2006. - 07.10.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Q192R; L55M; C(-108)T; Polymorphism; PON1 gene; PON2 gene

Sažetak
The paraoxonase (PON) gene family includes three members (pon1, pon2, pon3) located on the long arm of chromosome 7q21.3-22.1, that code for enzymes involved in the protection against oxidative stress. Paraoxonase 1 (PON1), an HDL-associated enzyme, is believed to contribute to the protective effects of HDL by decreasing generation of lipid peroxide during process of LDL oxidation and play roll in protection against development of atherosclerosis. Paraoxonase 2 (PON2) is ubiquitously expressed in nearly all human tissues and acts as cellular antioxidant. Due to the reduction of oxidative stress PON2 may also act as an antiatherogenic enzyme. The most common polymorphisms in the coding (Q192R and L55M) and in the promoter region (C(-108)T) of pon1 gene, as well as S311C polymorphism of pon2 gene, have been reported to be associated with the high risk of atherosclerosis. We carried out this study in order to determine frequencies of pon1 polymorphisms Q192R, L55M, C(-108)T and pon2 polymorphism S311C in healthy Croatian population (N=166). DNA was isolated from whole blood by Miller's method, and four polymorphisms were determined by PCR-RFLP procedure. We found following genotype frequencies: 0, 60 QQ, 0, 34 QR, and 0, 06 RR for Q192R polymorphism of pon1 gene ; 0, 44 LL, 0, 43 LM, and 0, 13 MM for L55M polymorphism of pon1 gene ; 0, 3 CC, 0, 48 CT, 0, 22 TT for C(-108)T promoter polymorphism of pon1 gene, and 0, 5 SS, 0, 48 CS, 0, 02 CC for S311C polymorphism of pon2 gene. According to our results we concluded that QQ, LL, CT and SS are the most frequent genotypes in healthy Croatian population, and genotype frequencies are in Hardy – Weinberg proportion. Genotype distribution, concerning Q192R, L55M, C(-108)T, and S311C polymorphisms of pon 1 and 2 genes in Croatian population, is similar to those observed in many other European populations.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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