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Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm)
Human Genome Variation Pub Date : 2021-02-04 , DOI: 10.1038/s41439-021-00135-z
Chakkaphan Runcharoen 1 , Koya Fukunaga 2 , Insee Sensorn 1 , Nareenart Iemwimangsa 1 , Sommon Klumsathian 1 , Hang Tong 3 , Nam Sy Vo 4 , Ly Le 3, 4 , Tin Maung Hlaing 5 , Myo Thant 6 , Shamsul Mohd Zain 7 , Zahurin Mohamed 7 , Yuh-Fen Pung 8 , Francis Capule 9 , Jose Nevado 10 , Catherine Lynn Silao 10, 11 , Zeina N Al-Mahayri 12 , Bassam R Ali 13 , Rika Yuliwulandari 14, 15 , Kinasih Prayuni 15 , Hilyatuz Zahroh 15 , Dzul Azri Mohamed Noor 16 , Phonepadith Xangsayarath 17 , Dalouny Xayavong 17 , Sengchanh Kounnavong 18 , Somphou Sayasone 18 , Zoe Kordou 19 , Ioannis Liopetas 19 , Athina Tsikrika 19 , Evangelia-Eirini Tsermpini 19 , Maria Koromina 19 , Christina Mitropoulou 20 , George P Patrinos 12, 19 , Aumpika Kesornsit 21 , Angkana Charoenyingwattana 1 , Sukanya Wattanapokayakit 22 , Surakameth Mahasirimongkol 22 , Taisei Mushiroda 2 , Wasun Chantratita 1
Affiliation  

Pharmacogenomics can enhance the outcome of treatment by adopting pharmacogenomic testing to maximize drug efficacy and lower the risk of serious adverse events. Next-generation sequencing (NGS) is a cost-effective technology for genotyping several pharmacogenomic loci at once, thereby increasing publicly available data. A panel of 100 pharmacogenes among Southeast Asian (SEA) populations was resequenced using the NGS platform under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm). Here, we present the frequencies of pharmacogenomic variants and the comparison of these pharmacogenomic variants among different SEA populations and other populations used as controls. We investigated the different types of pharmacogenomic variants, especially those that may have a functional impact. Our results provide substantial genetic variations at 100 pharmacogenomic loci among SEA populations that may contribute to interpopulation variability in drug response phenotypes. Correspondingly, this study provides basic information for further pharmacogenomic investigations in SEA populations.



中文翻译:

在东南亚药物基因组学研究网络 (SEAPharm) 的合作下,东南亚人群中 100 种药物基因中药物基因组变异的流行率

药物基因组学可以通过采用药物基因组学测试来提高治疗效果,从而最大限度地提高药物疗效并降低严重不良事件的风险。下一代测序 (NGS) 是一种具有成本效益的技术,可同时对多个药物基因组位点进行基因分型,从而增加公开可用的数据。在东南亚药物基因组学研究网络 (SEAPharm) 的合作下,使用 NGS 平台对东南亚 (SEA) 人群中的 100 个药物基因组进行了重新测序。在这里,我们介绍了药物基因组变异的频率以及这些药物基因组变异在不同 SEA 人群和用作对照的其他人群之间的比较。我们研究了不同类型的药物基因组变异,尤其是那些可能具有功能影响的变异。我们的结果提供了 SEA 群体中 100 个药物基因组位点的大量遗传变异,这可能导致药物反应表型的群体间变异性。相应地,本研究为 SEA 人群的进一步药物基因组学研究提供了基本信息。

更新日期:2021-02-04
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