Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland.
Broad Institute, Cambridge, MA, USA.
Nat Rev Genet. 2022 Sep;23(9):533-546. doi: 10.1038/s41576-022-00478-5. Epub 2022 May 2.
Human genetics can inform the biology and epidemiology of coronavirus disease 2019 (COVID-19) by pinpointing causal mechanisms that explain why some individuals become more severely affected by the disease upon infection by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus. Large-scale genetic association studies, encompassing both rare and common genetic variants, have used different study designs and multiple disease phenotype definitions to identify several genomic regions associated with COVID-19. Along with a multitude of follow-up studies, these findings have increased our understanding of disease aetiology and provided routes for management of COVID-19. Important emergent opportunities include the clinical translatability of genetic risk prediction, the repurposing of existing drugs, exploration of variable host effects of different viral strains, study of inter-individual variability in vaccination response and understanding the long-term consequences of SARS-CoV-2 infection. Beyond the current pandemic, these transferrable opportunities are likely to affect the study of many infectious diseases.
人类遗传学可以通过确定因果机制来为 2019 年冠状病毒病(COVID-19)的生物学和流行病学提供信息,这些机制解释了为什么在感染严重急性呼吸综合征冠状病毒 2(SARS-CoV-2)病毒后,有些个体受到更严重的影响。大规模的遗传关联研究,包括罕见和常见的遗传变异,已经使用不同的研究设计和多种疾病表型定义来确定与 COVID-19 相关的几个基因组区域。随着大量的后续研究,这些发现增加了我们对疾病病因的理解,并为 COVID-19 的管理提供了途径。重要的新兴机会包括遗传风险预测的临床转化、现有药物的再利用、不同病毒株对宿主影响的探索、个体间疫苗反应的差异研究以及了解 SARS-CoV-2 感染的长期后果。在当前大流行之外,这些可转移的机会可能会影响许多传染病的研究。