Tomas Željka, Kuhanec Antonija, Škarić-Jurić Tatjana, Petranović Matea Zajc, Narančić Nina Smolej, Janićijević Branka, Salihović Marijana Peričić
Institute for Anthropological Research, Gajeva 32, 10000 Zagreb, Croatia.
Pharmacogenomics. 2017 Nov;18(17):1575-1587. doi: 10.2217/pgs-2017-0105. Epub 2017 Nov 2.
To determine variation of CYP2B6 gene within the genetically specific Croatian Roma (Gypsy) population originating from India and to examine it in the worldwide perspective.
MATERIALS & METHODS: Seven SNP loci (rs12721655, rs2279343, rs28399499, rs34097093, rs3745274, rs7260329 and rs8192709) were genotyped in 439 subjects using Kompetitive Allele Specific PCR (KASP) method.
The Croatian Roma took an outlying position in CYP2B6 variation from the worldwide perspective mainly due to their exceptionally high minor allele frequency (MAF) for rs8192709 (12.8%), and lower for rs2279343 (21.1%) compared with south Asian populations.
This study provides the first data of several CYP2B6 polymorphisms in Roma population and indicates the need for systematic investigation of the most important pharmacogenes' variants in this large, transnationally isolated population worldwide.
确定源自印度的具有遗传特异性的克罗地亚罗姆（吉普赛）人群中CYP2B6基因的变异情况，并从全球角度进行研究。
采用竞争性等位基因特异性PCR（KASP）方法对439名受试者的7个单核苷酸多态性位点（rs12721655、rs2279343、rs28399499、rs34097093、rs3745274、rs7260329和rs8192709）进行基因分型。
从全球角度来看，克罗地亚罗姆人在CYP2B6变异中处于外围位置，主要是因为他们rs8192709的次要等位基因频率（MAF）异常高（12.8%），而rs2279343的次要等位基因频率（21.1%）与南亚人群相比更低。
本研究提供了罗姆人群中几种CYP2B6多态性的首批数据，并表明有必要对这个全球范围内大规模、跨国隔离的人群中最重要的药物代谢基因变体进行系统研究。
