| Summary: | Aims: CYP2D6 is one of the major enzymes in the cytochrome P450 monooxygenase system. It metabolizes ∼25% of prescribed drugs and hence, the genetic diversity of the CYP2D6 gene has continued to be of great interest to the medical and pharmaceutical industries. This study was designed to perform a systematic analysis of the CYP2D6 gene in six subtribes of the Malaysian Orang Asli. Methods: Genomic DNAs were extracted from the blood samples followed by whole-genome sequencing. The reads were aligned to the reference human genome hg19 and variants in the CYP2D6 gene were analyzed. CYP2D6∗5 and duplication of CYP2D6 were analyzed using previously established methods. Results: A total of 72 single nucleotide polymorphisms were identified. CYP2D6∗1, ∗2, ∗4, ∗5, ∗10,∗41, and duplication of the gene were found in the Orang Asli, whereby CYP2D6∗2 and ∗41 alleles are reported for the first time in the Malaysian population. Conclusion: The findings in this study provide insights into the genetic polymorphisms of CYP2D6 in the Orang Asli of Peninsular Malaysia. © 2017, Mary Ann Liebert, Inc.
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