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Keywords:

  • allele frequency;
  • CYP2C8;
  • polymorphism

Summary

Background: CYP2C8 is genetically polymorphic. Four variants, CYP2C8*2, CYP2C8*3, CYP2C8*4 and CYP2C8*5, which contain mutations in the coding regions have been reported to exhibit different enzyme activity as compared with CYP2C8*1.

Objective:  To determine the allele frequency of three codon-changing variants (CYP2C8*2, CYP2C8*3 and CYP2C8*4) in the Malaysian population.

Method:  Healthy unrelated volunteers from three major races in Malaysia were recruited. The study was approved by the local Research Ethics Committee. DNA was extracted using a standard protocol. A two-step multiplex PCR method was developed to detect three alleles of CYP2C8. PCR results were confirmed by subsequent direct DNA sequencing.

Result:  Only the Indians showed CYP2C8 polymorphism with allele frequency of 98% for CYP2C8*1, 0·8% for CYP2C8*2 and 1·2% for CYP2C8*3. CYP2C8*4 was not detected in any of the ethnic groups.

Conclusion:  To the best of our knowledge, the current study described, for the first time polymorphisms of CYP2C8 in Malaysian Indians.