Department of Biomedicine and Prevention and.
Department of Biology, Tor Vergata University of Rome, Rome, Italy.
J Clin Invest. 2021 Dec 1;131(23). doi: 10.1172/JCI155011.
GWAS involve testing genetic variants across the genomes of many individuals to identify genotype-phenotype associations. GWAS have enabled the identification of numerous genomic biomarkers in various complex human diseases, including infectious ones. However, few of these studies are relevant for clinical practice or at the bedside. In this issue of the JCI, Nakanishi et al. characterized the clinical implications of a major genetic risk factor for COVID-19 severity and its age-dependent effect, using individual-level data in a large international multicenter consortium. This study indicates that a common COVID-19 genetic risk factor (rs10490770) associates with increased risks of morbidity and mortality, suggesting potential implications for future clinical risk management. How can the genomic biomarkers identified by GWAS be associated with the clinical outcomes of an infectious disease? In this Commentary, we evaluate the advantages and limitations of this approach.
GWAS 涉及对许多个体的基因组中的遗传变异进行测试，以确定基因型-表型关联。GWAS 已经能够在各种复杂的人类疾病中识别出许多基因组生物标志物，包括传染病。然而，这些研究中很少有与临床实践或床边相关。在本期 JCI 中，Nakanishi 等人使用大型国际多中心联盟的个体水平数据，描述了 COVID-19 严重程度的主要遗传风险因素及其年龄依赖性效应的临床意义。这项研究表明，一种常见的 COVID-19 遗传风险因素（rs10490770）与发病率和死亡率的增加相关，这表明对未来临床风险管理可能具有潜在影响。GWAS 确定的基因组生物标志物如何与传染病的临床结果相关？在这篇评论中，我们评估了这种方法的优点和局限性。
