Naslov
Variabilty in ABCB1 gene in the Roma population from Croatia

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

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

Izvornik
13th CROATIAN BIOLOGICAL CONGRESS with International Participation. Book of Abstracts. / - : Hrvatsko biološko društvo, 2018, 106-107

Skup
13. Hrvatski biološki kongres

Mjesto i datum
Poreč, Hrvatska, 19.09.2018. - 23.09.2018

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
ABCB1 gene ; rs1128503 ; rs1045642 ; pharmacogenetics ; Roma (Gypsy)

Sažetak
A large transmembrane P-glycoprotein (P-gp) has an important role in the bioavailability of various drugs: chemotherapeutic drugs, antibiotics, immunosupressants, etc. It is a product of ABCB1 gene, a highly polymorphic member of multidrug resistance protein family. Some of the most common polymorphisms in the protein coding region are rs1128503 and rs1045642, and rs3213619 at 5`-UTR end, which were analyzed in this study in 440 subjects who belong to three socio-culturally different and geographically distant Roma (Gypsy) groups. Minor allele frequency (MAF) of rs1128503 was the highest in the Balkan Roma (69.4%) when compared to the Baranja (62.5%) and the Međimurje Roma (54.5%) (p<0.001). The MAF of the other polymorphic locus in the protein coding region, rs1045642, was also significantly higher in the Balkan group (63.6%) than in the Baranja (52.3%) and the Međimurje group (48.8%) (p=0.0005). rs3213619 was not polymorphic in the Međimurje group, but the MAFs in the Balkan (1.5%) and in the Baranja Roma (1.9%) were very low. The analyzed polymorphic loci confirm genetic distinctiveness of three tested Roma groups, which may be the result of reproductive isolation. Furthermore, the fact that Romani MAFs of rs1128503 and rs1045642 differ from 1000 Genomes populations indicates this population's genetic specificity, which should be taken into account in modulating pharmacotherapy.

Izvorni jezik
Engleski

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

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