Author/Editor     Dolžan, Vita; Rudolf, Zvonimir; Breskvar, Katja
Title     Human CYP2D6 gene polymorphism in Slovene cancer patients and health controls
Type     članek
Source     Quark
Publication year     1998
Volume     str. 36-40
Language     eng
Abstract     The polymorphic CY2D6 gene encoding debrisoquine hydroxylase has attracted much interest for its possible role in human pulmonary carcinogenesis. The purpose of this work was to determine the frequency of poor metabolizers (PM) and extensive metabolizers (EM) of debrisoquine in a Slovene population of healthy individuals (total number 107), lung cancer patients (200) and melanoma patients (121). Polymorphism of the CY2D6 gene was studied by genotyping based on PCR analysis of the intron 3 exon 4 junction containing G to A, mutation and one base pair deletion in exon 5, wich are responsible for about 95% of poor metabolizer phenotypes in Caucasians. In the healthy Slovene population, 62,6% of individuals were indentified as extensive metabolizers, 31% as extensive-heterozygous metabolizers and 6,5% as poor metabolizers of debrisoquine. The frequency of EM individuals was 70,5% in lung cancer patients and 64% in melanoma patients, the frequency of extensive-heterozygous subjects was 27% in lung cancer patients and 31% in melanoma patients. The frequency of PM individuals in lung cancer patients was 2,5% and melanoma patients 5%. The decrease in the PM genotype in the group of Slovene lung cancer patients is similar to the decrease published for some other ethnic groups. Our results support the hypothesis that the polymorphic CY2D6 gene probably plays some, thought not a prevalent role in chemical carcinogenesis. PM individuals appear to be less susceptible to lung cancer than EM individuals.
Descriptors     LUNG NEOPLASMS
MELANOMA
ALLELES
GENOTYPE
CYTOCHROME P-450 CYP2D6
POLYMORPHISM (GENETICS)
DNA
POLYMERASE CHAIN REACTION