Genetic epidemiology of pharmacogenetic variants in South East Asian Malays using whole-genome sequences

• Published in: Pharmacogenomics Journal
• Main Author: Sivadas A.; Salleh M.Z.; Teh L.K.; Scaria V.
• Format: Article
• Language: English
• Published: Nature Publishing Group 2017
• Online Access: https://www.scopus.com/inward/record.uri?eid=2-s2.0-84973130319&doi=10.1038%2ftpj.2016.39&partnerID=40&md5=c0a45dcc49de873705bec1bcd5770be8

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. © 2017 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.