对基因独特的土著人群进行药物基因组学分析

IF 2.9 3区 医学 Q2 GENETICS & HEREDITY Pharmacogenomics Journal Pub Date : 2021-11-25 DOI:10.1038/s41397-021-00262-4
Arvind Jaya Shankar, Sudhir Jadhao, Wendy Hoy, Simon J. Foote, Hardip R. Patel, Vinod Scaria, Brendan J. McMorran, Shivashankar H. Nagaraj
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引用次数: 4

摘要

与其他澳大利亚人相比,澳大利亚原住民面临着不成比例的严重慢性疾病负担,发病率和死亡率都很高。虽然基因组学技术在为许多人提供个性化治疗方面的发展势头缓慢,但缺乏针对土著居民的药物基因组学研究可能会延误该技术的应用。要在临床治疗中适当实施药物基因组学,就必须了解土著居民中与药物相关的基因变异的频率。我们分析了来自蒂维群岛(Tiwi Islands)187 人的全基因组序列数据,并描述了这一人群的药物基因组学特征。具体来说,我们将以前描述过的具有药理学意义的基因和变体的变异情况和等位基因分布与其他人群进行了比较。我们发现了 22 个具有转化意义的药物基因组变异和 18 个具有临床可操作性的指南,这些指南对药物剂量以及心脏病、糖尿病和癌症等疾病的治疗具有重要意义。我们特别观察到 CYP2C9(PM:19%,IM:44%)和 CYP2C19(PM:18%,IM:44%)基因中不良和中间代谢表型的增加。
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Pharmacogenomic analysis of a genetically distinct Indigenous population
Indigenous Australians face a disproportionately severe burden of chronic disease relative to other Australians, with elevated rates of morbidity and mortality. While genomics technologies are slowly gaining momentum in personalised treatments for many, a lack of pharmacogenomic research in Indigenous peoples could delay adoption. Appropriately implementing pharmacogenomics in clinical care necessitates an understanding of the frequencies of pharmacologically relevant genetic variants within Indigenous populations. We analysed whole-genome sequence data from 187 individuals from the Tiwi Islands and characterised the pharmacogenomic landscape of this population. Specifically, we compared variant profiles and allelic distributions of previously described pharmacologically significant genes and variants with other population groups. We identified 22 translationally relevant pharmacogenomic variants and 18 clinically actionable guidelines with implications for drug dosing and treatment of conditions including heart disease, diabetes and cancer. We specifically observed increased poor and intermediate metabolizer phenotypes in the CYP2C9 (PM:19%, IM:44%) and CYP2C19 (PM:18%, IM:44%) genes.
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来源期刊
Pharmacogenomics Journal
Pharmacogenomics Journal 医学-药学
CiteScore
7.20
自引率
0.00%
发文量
35
审稿时长
6-12 weeks
期刊介绍: The Pharmacogenomics Journal is a print and electronic journal, which is dedicated to the rapid publication of original research on pharmacogenomics and its clinical applications. Key areas of coverage include: Personalized medicine Effects of genetic variability on drug toxicity and efficacy Identification and functional characterization of polymorphisms relevant to drug action Pharmacodynamic and pharmacokinetic variations and drug efficacy Integration of new developments in the genome project and proteomics into clinical medicine, pharmacology, and therapeutics Clinical applications of genomic science Identification of novel genomic targets for drug development Potential benefits of pharmacogenomics.
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