title: Genetic polymorphisms in promoter and intronic regions of CYP1A2 gene in Roma and Hungarian population samples.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: szalai.renata@pte.hu.
authors.forename: Renata
authors.initials: R
authors.lastname: Szalai
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: magyari.lili@pte.hu.
authors.forename: Lili
authors.initials: L
authors.lastname: Magyari
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: matyas.petra@pte.hu.
authors.forename: Petra
authors.initials: P
authors.lastname: Matyas
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: duga.balazs@pte.hu.
authors.forename: Balazs
authors.initials: B
authors.lastname: Duga
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: banfai.zsolt@pte.hu.
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Banfai
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: szabandras89@gmail.com.
authors.forename: Andras
authors.initials: A
authors.lastname: Szabo
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: kovesdi.erzsebet@pte.hu.
authors.forename: Erzsebet
authors.initials: E
authors.lastname: Kovesdi
authors.affiliation: Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: melegh.bela@pte.hu.
authors.forename: Bela
authors.initials: B
authors.lastname: Melegh
mesh_terms: D000328:Adult; D019388:Cytochrome P-450 CYP1A2 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D064368:Healthy Volunteers; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D006178:Romani People / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult
chemical_list: C504573:CYP1A2 protein, human; D019388:Cytochrome P-450 CYP1A2
keywords: CYP1A2; Hungarian; Interethnic; Pharmacogenetics; Polymorphisms; Roma