Naslov
Association between CYP2D6 polymorphism and the susceptibility to alcohol liver disease (ALD

Autori
Štefanović, Mario ; Ivanišević, Ana-Maria ; Topić, Elizabeta

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

Izvornik
Clin Chem Lab Med 1999;vol 37:Abstracts volume, Special supplement / Schaffner, W. - Milano : Walter de Gruyter, 1999

Skup
IFCC-World Lab, 17th International and 13th European Congress of Clinical Chemistry and Laboratory Medicine

Mjesto i datum
Firenca, Italija, 06.06.1999. - 11.06.1999

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
CYP2D6; alcohol liver disease

Sažetak
Genetic polymorphism of cytochromes P450 could be implicated in the individual susceptibility of alcoholics to ethanol induced diseases. Our aim was to examine the possible association of the CYP2D6*3 and *4 null alleles with ALD. Genotyping was carried out on 53 controls and 37 ALD patients by PCR-SSCP on whole blood DNA: PCR products were denaturated, chilled on ice, run on electrophoresis and visualized with SYBR Green II. Study results showed that for control group allelic frequencies for *3 and *4 alleles were 0.9% and 17% respectively. Among controls we found 1/53 (1.9%) *3 and 16/53 (29.5%) *4 heterozygotes; 1/53 (2.3%) *4 homozygote, whereas *3 homozygote was not identified. Among ALD patients, allelic frequencies for *3 and *4 alleles were 4.1% and 14.7%, respectively. For *3 and *4 alleles 3/37 (8.1%) and 11/37 (29.4%) patients were heterozygous, respectively. We observed neither *3 nor *4 homozygotes in the patient group. Frequencies for *3 and *4 alleles did not differ significantly, whereas genotype frequencies differed between groups, however not significantly. To verify the possible contribution of *3 and *4 null allelic genotypes in development of ALD, further study with expanded groups is needed.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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