Naslov
The CYP2D6 gene variation among three Croatian Roma groups

Autori
Stojanović Marković, Anita ; Puljko, Borna ; Tomas, Željka ; Zajc Petranović, Matea ; Škarić- Jurić, Tatjana ; Peričić Salihović, Marijana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human Genetics / - : Springer Nature, 2019, 1174-1813

Skup
European Human Genetic Conference (ESHG 2019)

Mjesto i datum
Göteborg, Švedska, 15.06.2019. - 18.06.2019

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
CYP2D ; ADME ; Roma ; pharmacogenomics

Sažetak
CYP2D6 enzyme is involved in the metabolism of approximately 25% of the most commonly prescribed drugs metabolized in liver (opioids, beta- blockers, antidepressants, antitumor agent, etc.). CYP2D6 has the largest phenotypical variability among all CYP’s due to the substantial number of polymorphisms that impact its activity. This gene shows population specific variation. Aim was to determine variation within CYP2D6 among three socio- culturally and geographically distinct Croatian Roma groups (Balkan Roma and Vlax Roma from Baranja and Medjimurje) since their specific population history highly influenced their gene pool. NGS method Genotyping-in-Thousands by sequencing was used to sequence whole CYP2D6 gene on 324 Croatian Roma DNA samples. Polymorphic positons were phased using PHASE v2.1.1. Reconstructed haplotypes were translated into star alleles according to P450 Allele Nomenclature Database. Sequencing identified 51 polymorphic positions. Reconstructed haplotypes significantly differed among the three Roma groups (p<0.05). The two most frequent haplotypes in Balkan Roma belong to the groups of CYP2D6*4 and CYP2D6*1 alleles (9.7% and 8.7% respectively), while in Roma from Baranja the most frequent haplotypes belong to groups of CYP2D6*1 and CYP2D6*2 alleles (18.8% and 10.3% respectively). The most frequent haplotypes in Roma from Medjimurje belong to the groups of CYP2D6*1 and CYP2D6*4 alleles (14.4% and 7.4% respectively). Our results provided basic information about CYP2D6 polymorphisms, suggesting that the enzymatic activities of CYP2D6 might differ among Roma groups. This finding may be helpful for better modulation of pharmacotherapy in Roma population. The research was funded by Croatian Science Foundation grant (HRZZ-IP- 2014- 09-4454) to MPS.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Javno zdravstvo i zdravstvena zaštita, Farmacija

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