Genetic polymorphisms in promoter and intronic regions of CYP1A2 gene in Roma and Hungarian population samples

•We examined polymorphisms of CYP1A2 in Roma and Hungarian populations.•The most frequent polymorphism in Romas and in Hungarians was −163C>A.•−163C>A, −729C>T, −2467T>delT and −3860G>A polymorphisms showed interethnic differences.•Hungarians have increased risk for augmented procarcinogen activation and cancers.•The probable rapid metabolism of CYP1A2 substrates is more common in Hungarians.

The purpose of this study was to determine the interethnic differences of four CYP1A2 drug metabolizing enzyme variants. A total of 404 Roma and 396 Hungarian healthy subjects were genotyped for −163C>A, −729C>T, −2467delT and −3860G>A variants of CYP1A2 by RT-PCR and PCR-RFLP technique. The −3860A and −729T allele were not detectable in Roma samples, while in Hungarian samples were present with 2.02% and 0.25% prevalence, respectively. There was a 1.5-fold difference in presence of homozygous −163AA genotype between Hungarian and Roma samples (49.5% vs. 31.9%, p < 0.001). The −163A allele frequency was 68.6% in Hungarians and 56.9% in Romas (p = 0.025). The −2467delT allele frequency was 6.81% in Roma group and 5.81% in Hungarians. The most frequent allelic constellation was −3860G/−2467T/−729C/−163A in both populations. In conclusion, Hungarians have markedly elevated chance for rapid metabolism of CYP1A2 substrates, intensified procarcinogen activation and increased risk for cancers.