Naslov
Is B allele of the human paraoxonase gene related to myocardial infarction in Croatian population?

Autori
Ivanišević, Ana-Maria ; Topić, Elizabeta ; Štefanović, Mario ; Nikolić, Vjeran ; Čubrilo-Turek, Mirjana ; Juretić, Dubravka ; Rekić, Branka

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

Izvornik
1st Alps-Adria meeting on human genetics -Programme and abstracts / Zergollern, Ljiljana - Zagreb : Hrvatsko društvo za humanu genetiku, 2000, 75-76

Skup
1st Alps-Adria meeting on human genetics

Mjesto i datum
Brijuni, Hrvatska, 14.04.2000. - 15.04.2000

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
paraoxonase; myocardial infarction; Croatian population

Sažetak
Gene coding paraoxonase (PON1), a HDL associated enzyme, has been mapped to human chromosome 7 and is codominantly expressed as alleles A and G. The A allele codes for the aminoacid glutamine at codone 192 (A genotype) and the G allele for arginine (B genotype). This genetic polymorphism has been suggested to contribute to the development of atherosclerosis and coronary heart disease. However, data in the literature on the association of the A and B genotypes, coronary atherosclerosis and the occurrence of myocardial infarction is still controversial. We have therefore performed a study to evaluate the relationship between the PON1 polymorphism and the risk of myocardial infarction. PON1 genptypes were determined in 167 patients who suffered from acute myocardial infarction (AMI) and in 124 randomly selected healthy volunteers. Enzymatic activities of paraoxonase were also determined for AMI patients. PON1 genotypes were determined using the PCR-RFLP method by AlwI restriction enzyme digestion. Paraoxonase activity was assayed spectrophotomoetrically by the slightly modified method previously described by Mackness. A and B allelic frequencies were 71 for A and 29 for B allele both for patients and controls. There was no statistically significant difference for allele frequencies between patients and controls. However, the BB genotype was more common in patients. Enzymatic activities differed significantly (P=0.004) between the patient group and previously measured activities for a control group (n=146) obtained from personal communication with prof. Juretić (non published results). Higher enzymatic activities in patient group were concordant with higher incidence of B allele observed in same group. These data suggest that the paraoxonase BB genotype may represent an independent genetic risk factor for myocardial infarction.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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