title: Genetic epidemiology of pharmacogenetic variants in South East Asian Malays using whole-genome sequences.
abstract: Expanding the scope of pharmacogenomic research by including multiple global populations is integral to building robust evidence for its clinical translation. Deep whole-genome sequencing of diverse ethnic populations provides a unique opportunity to study rare and common pharmacogenomic markers that often vary in frequency across populations. In this study, we aim to build a diverse map of pharmacogenetic variants in South East Asian (SEA) Malay population using deep whole-genome sequences of 100 healthy SEA Malay individuals. We investigated the allelic diversity of potentially deleterious pharmacogenomic variants in SEA Malay population. Our analysis revealed 227 common and 466 rare potentially functional single nucleotide variants (SNVs) in 437 pharmacogenomic genes involved in drug metabolism, transport and target genes, including 74 novel variants. This study has created one of the most comprehensive maps of pharmacogenetic markers in any population from whole genomes and will hugely benefit pharmacogenomic investigations and drug dosage recommendations in SEA Malays.
authors.affiliation: GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
authors.forename: A
authors.initials: A
authors.lastname: Sivadas
authors.affiliation: Integrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi MARA (UiTM) Malaysia, Puncak Alam, Selangor, Malaysia.|Faculty of Pharmacy, Universiti Teknologi MARA (UiTM) Malaysia, Puncak Alam, Selangor, Malaysia.
authors.forename: M Z
authors.initials: MZ
authors.lastname: Salleh
authors.affiliation: Integrative Pharmacogenomics Institute (iPROMISE), Universiti Teknologi MARA (UiTM) Malaysia, Puncak Alam, Selangor, Malaysia.|Faculty of Pharmacy, Universiti Teknologi MARA (UiTM) Malaysia, Puncak Alam, Selangor, Malaysia.
authors.forename: L K
authors.initials: LK
authors.lastname: Teh
authors.affiliation: GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology (CSIR-IGIB), New Delhi, India.
authors.forename: V
authors.initials: V
authors.lastname: Scaria
mesh_terms: D044466:Asian People / Q000235:genetics*; D030541:Databases, Genetic; D005787:Gene Frequency; D005828:Genetics, Population; D015894:Genome, Human; D055106:Genome-Wide Association Study; D006801:Humans; D008296:Malaysia; D017720:Molecular Epidemiology / Q000379:methods*; D058977:Molecular Sequence Annotation; D010597:Pharmacogenetics / Q000379:methods*; D000071184:Pharmacogenomic Variants