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需要将药物遗传学研究从候选基因转移到全基因组关联研究。

The need to shift pharmacogenetic research from candidate gene to genome-wide association studies.

机构信息

Department of Clinical Pharmacy, University of Michigan College of Pharmacy, Ann Arbor, MI 48109, USA.

Independent Investigator, Seattle, WA 98109, USA.

出版信息

Pharmacogenomics. 2021 Nov;22(17):1143-1150. doi: 10.2217/pgs-2021-0108. Epub 2021 Oct 5.

Abstract

The primary research approach in pharmacogenetics has been candidate gene association studies (CGAS), but pharmacogenomic genome-wide association studies (GWAS) are becoming more common. We are now at a critical juncture when the results of those two research approaches, CGAS and GWAS, can be compared in pharmacogenetics. We analyzed publicly available databases of pharmacogenetic CGAS and GWAS (i.e., the Pharmacogenomics Knowledgebase [PharmGKB] and the NHGRI-EBI GWAS catalog) and the vast majority of variants (98%) and genes (94%) discovered in pharmacogenomic GWAS were novel (i.e., not previously studied CGAS). Therefore, pharmacogenetic researchers are not selecting the right candidate genes in the vast majority of CGAS, highlighting a need to shift pharmacogenetic research efforts from CGAS to GWAS.

摘要

在药物遗传学中,主要的研究方法是候选基因关联研究(CGAS),但药物基因组学全基因组关联研究(GWAS)越来越普遍。我们现在正处于一个关键时期,可以比较这两种研究方法(CGAS 和 GWAS)在药物遗传学中的结果。我们分析了公开的药物遗传学 CGAS 和 GWAS 数据库(即 Pharmacogenomics Knowledgebase [PharmGKB] 和 NHGRI-EBI GWAS 目录),并发现药物基因组学 GWAS 中发现的绝大多数变体(98%)和基因(94%)都是新的(即以前没有研究过 CGAS)。因此,药物遗传学研究人员在绝大多数 CGAS 中没有选择正确的候选基因,这突出表明需要将药物遗传学研究工作从 CGAS 转移到 GWAS。

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