Naslov
Pharmacogenetically interesting NAT2 gene in Croatian Roma population

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

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

Izvornik
10th ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine Boook of Abstract / / Primorac, Dragan ; Schanfield, Moses ; Vuk-Pavlović, Stanimir ; Kayser, Manfred ; Ördög, Tamás - Zagreb : Grafički zavod Hrvatske, 2017, 263-263

ISBN
978-953-57695-2-1

Skup
The Tenth ISABS Conference on Forensic and Anthropologic Genetics and Mayo Clinic Lectures in Individualized Medicine

Mjesto i datum
Dubrovnik, Hrvatska, 19.06.2017. - 24.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
NAT2, Roma, cancer risk

Sažetak
Introduction: Arylamine N-acetyltransferase 2 (NAT2) plays an important role in metabolism of therapeutic drugs and exogenous chemicals present in the diet and the environment. In addition, numerous association studies confirmed a link between NAT2 acetylator phenotypes and cancer risk. However, these studies were predominantly conducted in populations of European origin. Roma population is a transnational minority population of Indian origin for which data on variability of NAT2 gene is very limited, presenting a problem in regard to information on drug efficacy and safety. As many Roma people live from collecting secondary raw material, they are exposed to exogenous possibly cancerogenic chemicals, which can increase cancer risk in genetically susceptible individuals. The aim of this study was to determine genetic variability of NAT2 in Croatian Roma population.Methods: NAT2 gene polymorphisms (rs1041983, rs1801280, rs1799929, rs1799930, rs1208, rs1799931, rs1801279 and rs1805158) were genotyped in a sample of 440 individuals from three Roma groups as a part of genotyping project aimed at determining variability of ADME and several other selected genes involved in drug metabolism. Genotyping was performed using KASP method. Results: Loci rs1801279 and rs1805158 were monomorphic in all three Roma groups. Allele distribution of 3 polymorphic loci, rs1801280, rs1799929 and rs1208, differed significantly among the investigated groups. In addition, MAFs in Croatian Roma are notably different from the average global frequency. LD between investigated loci is very high in all three Roma groups.Conclusion: Results of this study confirm expected specific genetic profile of NAT2 in Croatian Roma population which results from their high level of isolation. This genetic specificities should be taken into account in pharmacotherapy. In addition, very high LD level suggest a possibility of using tag SNPs in genotyping analysis of these loci in Roma populations.

Izvorni jezik
Engleski

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

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