Inference of the Genetic Polymorphisms of CYP2D6 in Six Subtribes of the Malaysian Orang Asli from Whole-Genome Sequencing Data.
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 a 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.
['Yu|Choo Yee|CY|', 'Ang|Geik Yong|GY|', 'Subramaniam|Vinothini|V|', 'Johari James|Richard|R|', 'Ahmad|Aminuddin|A|', 'Abdul Rahman|Thuhairah|T|', 'Mohd Nor|Fadzilah|F|', 'Shaari|Syahrul Azlin|SA|', 'Teh|Lay Kek|LK|', 'Salleh|Mohd Zaki|MZ|']
D000328:Adult D000483:Alleles D044466:Asians D019389:Cytochrome P-450 CYP2D6 D005006:Ethnicity D005260:Female D005787:Gene Frequency D014644:Genetic Variation D055106:Genome-Wide Association Study D006801:Humans D008296:Malaysia D008297:Male D020641:Polymorphism, Single Nucleotide
polymorphism CYP2D6 Orang Asli whole genome sequencing