engleski

Characterization of CYP2C8 polymorphisms in a Roma population from Croatia

CYP2C8 gene (10q24, composed of 9 exons, spanning 31 kb) encodes a CYP2C8 protein, one of the most important members of the CYP2C subfamily. The CYP2C8 enzyme, which accounts for approximately 7% of CYP content in the liver, oxidizes about 5% of drugs cleared by phase I metabolism, like drugs used in the treatment of diabetes, cancer, malaria (chloroquine), statins, etc. The activity of CYP2C8 varies widely among individuals and there is evidence that genetic variations of CYP2C8 gene might contribute to its variable activity. Some of the most common polymorphisms in the protein coding region are rs11572103 (CYP2C8*2), rs1058930 (CYP2C8*3) and rs72558195 (CYP2C8*4), the variants responsible for reduced enzyme activity. These 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 rs10509681 was the highest in the Međimurje Roma (30.2%) when compared to the Baranja (14.3%) and the Balkan Roma (8.3%) (p<0.00001). The MAF of rs1058930 was also higher in the Međimurje group (10.2%) than in the Baranja (7.5%) and the Međimurje group (1.7%) (p<0.0001). rs1157213`s MAFs did not significanty differ between the three Roma groups. The analyzed polymorphic loci confirm genetic distinctiveness of three tested Roma groups, which may be the result of reproductive isolation.

CYP2C8 ; rs11572103 ; rs1058930 ; rs72558195 ; pharmacogenetics ; Roma (Gypsy)

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