The Genetic Variation of CYP2D6 Gene in the Bosnian Population.

INTRODUCTION

Genetic polymorphism is associated with individual responses to medication and susceptibility to diseases, and it represents the basis for individualized medical treatment and drug genomics studies. Genetic variation at is high, both among populations and among individuals in the same population.

AIM

The aim of the study was to investigate the gene duplication and the non-synonymous single-nucleotide polymorphisms (SNP) in the gene in members of the Bosnian population.

MATERIAL AND METHODS

The blood samples were collected from 151 unrelated and healthy donors from Bosnian populations consisted of 94 females and 57 males. Duplex long-range PCR was used to determine whether individuals carrying gene duplication. The resulting PCR product of 5.1 kb, containing all nine exons, was used as template for detection of the allele by nested PCR.

RESULTS

The gene duplication frequency found in the Bosnian population (2.73%) was related to the frequencies of this allele in other Caucasians. The gene duplication is the result of inheritance of more than two copies of the fully functional alleles. In contrast, the frequency of the variant, with possibly damaging function, in the Bosnian population (15.56%) was significantly higher when compared with the other Caucasians but significantly lower when compared with Asians.

CONCLUSION

CYP2D6 metabolizes many commonly prescribed drugs. Variations in the gene encoding this enzyme have been associated with individual differences in drug metabolism rates. The individuals with multiple gene copies metabolize drugs more rapidly and therapeutic plasma levels will not be achieved at ordinary drug dosages. The non-synonymous coding SNP () were predicted to have damaging effects on the protein function.