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.