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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