Naslov
Distinctiveness of the Roma population in pharmacogenetic “core list” markers within the worldwide populations

Autori
Janićijević, Branka ; Škarić-Jurić, Tatjana ; Smolej Narančić, Nina ; Zajc Petranović, Matea ; Tomas, Željka ; Peričić Salihović, Marijana

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

Izvornik
Drug Metabolism and Personalized Therapy / Siest, Sofia - : Walter de Gruyter, 2018, EA46-eA46

Skup
9th Santorini Conference: Systems Medicine and Personalised Health & Therapy "The Odyssey from Hope to Practice"

Mjesto i datum
Santorini, Grčka, 30.09.2018. - 03.10.2018

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
ADME ; pharmacogenetics ; VKORC1 ; CYP3A4 ; NAT2 ; Roma ; 1000 genomes populations ; population genetics ; Croatia

Sažetak
Background: Proteins involving absorption, distribution, metabolism and excretion (ADME) of many endogenous and exogenous substances play an important role in determining the pharmacokinetics of drugs as well. There is a considerable variation in genes encoding ADME proteins, both within and between populations. Pharmacogenetic data on the isolated populations are rather scarce. Only few data are available on the prevalence of ADME gene variants in the Roma (Gypsy) transnational minority population of Indian origin (1). Objective: We determine the allele frequencies of ADME “core list” markers and compare them with world-wide data in order to elucidate the position of Roma in the global perspective. Design: The sample comprises 439 Croatian Roma from several regions of Croatia with the highest number of Roma minority individuals. Their DNA samples were genotyped for 95 loci from 32 ADME genes using KASP method. Data were analyzed by standard statistical population-genetics methods within the context of ethnically diverse populations from various parts of the world using the 1000 Genomes project and literature data. Results: The analysis placed Croatian Roma among European populations but their proximity to South Asian populations is also evident suggesting that their ADME gene pool is a combination of ancestral (Indian) and more recent (European) layers. Due to their specific genetic history Roma show the outlying position on the global scale in minor allele frequencies of 12 loci: for 10 loci within 9 genes (rs1128503, rs1138272, rs1799853, rs1902023, rs3758581, rs8192709, rs10509681, rs12248560, rs34059508, rs28371725) they have the highest frequency while for two loci in two genes (rs28399433, rs4149117) the lowest frequency of the minor allele. According to the Clinical Pharmacogenetics Implementation Consortium – CIPC guidelines, rs1799853 (CYP2C9) and rs12248560 (CYP2C19) have been clinically annotated as level 1A supporting their high clinical importance. Conclusion: Our results show that Roma population takes specific position within the global ADME genetic landscape and indicate necessity for the assessment of unique genetic profile of Roma in order to achieve the most in the modulation of pharmacotherapy in this population. Acknowledgements: The research was funded by Croatian Science Foundation grant (HRZZ-IP-2014- 09-4454) to MPS. 1. Tomas Ž, Kuhanec A, Škarić-Jurić T, Petranović MZ, Narančić NS, Janićijević B, Peričić M. Pharmacogenomics 2017 ; 18:1575-87.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Javno zdravstvo i zdravstvena zaštita, Etnologija i antropologija

POVEZANOST RADA