Screening for CYP2B6 polymorphisms in the Roma (Gypsy) population (CROSBI ID 657504)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Kuhanec, Antonija ; Tomas, Željka ; Škarić-Jurić, Tatjana ; Smolej Narančić, Nina ; Janićijević, Branka ; Zajc Petranović, Matea ; Peričić Salihović, Marijana
engleski
Screening for CYP2B6 polymorphisms in the Roma (Gypsy) population
ADME genes exhibit significant variation among the human populations due to the past demographic and evolutionary events. Generally, the knowledge on distribution of ADME genes in isolated populations is limited, particularly in the Roma, transnational minority population of Indian origin. The aim of this study is to determine the variation of CYP2B6 among Croatian Roma. It is one of the most polymorphic ADME genes in humans and plays role in several drug metabolizing pathways (e.g. efavirenz and nevirapine, bupropion). Within the broadly designed project, we investigated the variation of a large panel of ADME genes among the Roma minority populations of Croatia. Genotyping was done using KASP method. Here we present CYP2B6 gene variation, which was detected by genotyping seven SNP loci (rs12721655, rs2279343, rs28399499, rs34097093, rs3745274, rs7260329, rs8192709) in 440 DNA samples belonging to the three socio-culturally and geographically distinct Croatian Roma groups. Results: Three of the investigated loci (rs12721655, rs28399499, rs34097093) were monomorphic in all samples. MAFs of polymorphic loci (rs2279343, rs3745274, rs7260329, rs8192709) ranged 17-30%, 12-26%, 24-45%, 5- 17%, respectively, with significant differences among the investigated groups. Moreover, MAF of locus rs8192709 is in two of the three Roma populations four times higher than the average global frequency. Significant LD values between different pairs of loci were detected in all three investigated populations indicating recent founder effect. Conclusion: Our results suggest that each investigated Roma population has unique CYP2B6 genetic profile which should be considered in the modulation of pharmacotherapy due to its possible clinical importance.
CYP2B6 ; polymorphisms ; Roma (Gypsy)
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Podaci o prilogu
684-684.
2017.
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objavljeno
10.1038/s41431-018-0247-7
Podaci o matičnoj publikaciji
European journal of human genetics
van Ommen, Gert-Jan
Springer
1018-4813
1476-5438
Podaci o skupu
50th European Society of Human Genetics Conference 2017
poster
27.05.2017-30.05.2017
Kopenhagen, Danska
Povezanost rada
Biologija, Etnologija i antropologija