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

Renata Szalai; Lili Magyari; Petra Matyas; Balazs Duga; Zsolt Banfai; Andras Szabo; Erzsebet Kovesdi; Bela Melegh

doi:10.1016/j.etap.2014.09.012

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

Environ Toxicol Pharmacol. 2014 Nov;38(3):814-20. doi: 10.1016/j.etap.2014.09.012. Epub 2014 Sep 28.

Authors

Renata Szalai¹, Lili Magyari², Petra Matyas³, Balazs Duga⁴, Zsolt Banfai⁵, Andras Szabo⁶, Erzsebet Kovesdi⁷, Bela Melegh⁸

Affiliations

¹ 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.
² 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.
³ Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: matyas.petra@pte.hu.
⁴ 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.
⁵ Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: banfai.zsolt@pte.hu.
⁶ Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary. Electronic address: szabandras89@gmail.com.
⁷ 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.
⁸ 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.

PMID: 25461540
DOI: 10.1016/j.etap.2014.09.012

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.

Keywords: CYP1A2; Hungarian; Interethnic; Pharmacogenetics; Polymorphisms; Roma.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cytochrome P-450 CYP1A2 / genetics*
Female
Genetic Predisposition to Disease*
Genotype
Healthy Volunteers
Homozygote
Humans
Introns
Male
Middle Aged
Polymorphism, Single Nucleotide*
Prevalence
Promoter Regions, Genetic
Risk Factors
Roma / ethnology
Roma / genetics*
Young Adult

Substances

CYP1A2 protein, human
Cytochrome P-450 CYP1A2