Naslov
Cytochrome P450 CYP2D6 genotypes in alcohol liver disease (ALD)

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

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

Izvornik
European Journal of Human Genetics, Programme and abstracts, volume 7, supplement 1 / Van Ommen, Gert-Jan B. - Hampshire : Stockton Press, 1999

Skup
31st Annual Meeting of the European Society for Human Genetics

Mjesto i datum
Ženeva, Švicarska, 29.05.1999. - 01.06.1999

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
CYP2D6; alcohol liver disease

Sažetak
The aim of this study was to investigate the association of the null alleles CYP2D6 *3 and *4 with ALD, since chronic EtOH ingestion induces CYP2D6 gene. We performed genotyping on whole blood DNA by PCR-SSCP. PCR products were denaturated at 95°C, quickly chilled on ice and run on electrophoresis. Gels were stained with SYBR Green II. Study results showed that out of 53 controls allelic frequencies for *3 and *4 alleles were 0.9% and 17% respectively. Among them were 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 controls. Among 36 ALD patients, allelic frequencies for *3 and *4 alleles were 4.2% and 14.1%, respectively. 3/36 (8.3%) and 10/36 (28.1%) patients were heterozygous for *4 allele. There were neither *3 nor *4 homozygotes in the patient group. CYP2D6 *3 allelic and genotype frequencies differed between groups, but not significantly. There was no difference neither between *4 allelic frequencies nor the genotypes. These preliminary results indicate that *3 genotype may contribute to development of ALD. Further study with expanded groups is needed.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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