Precision Medicine Unit, Biomedical Data Science Center, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.
Eur J Hum Genet. 2022 Aug;30(8):908-914. doi: 10.1038/s41431-022-01136-4. Epub 2022 Jun 30.
SARS-CoV-2 infected a large fraction of humans in the past 2 years. The clinical presentation of acute infection varies greatly between individuals, ranging from asymptomatic or mild to life-threatening COVID-19 pneumonia with multi-organ complications. Demographic and comorbid factors explain part of this variability, yet it became clear early in the pandemic that human genetic variation also plays a role in the stark differences observed amongst SARS-CoV-2 infected individuals. Using tools and approaches successfully developed for human genomic studies in the previous decade, large international collaborations embarked in the exploration of the genetic determinants of multiple outcomes of SARS-CoV-2 infection, with a special emphasis on disease severity. Genome-wide association studies identified multiple common genetic variants associated with COVID-19 pneumonia, most of which in regions encoding genes with known or suspected immune function. However, the downstream, functional work required to understand the precise causal variants at each locus has only begun. The interrogation of rare genetic variants using targeted, exome, or genome sequencing approaches has shown that defects in genes involved in type I interferon response explain some of the most severe cases. By highlighting genes and pathways involved in SARS-CoV-2 pathogenesis and host-virus interactions, human genomic studies not only revealed novel preventive and therapeutic targets, but also paved the way for more individualized disease management.
在过去的 2 年中,SARS-CoV-2 感染了大量人类。急性感染的临床表现在个体之间差异很大,从无症状或轻度到危及生命的 COVID-19 肺炎伴多器官并发症。人口统计学和合并症因素解释了部分这种可变性,但在大流行早期就清楚地表明,人类遗传变异也在 SARS-CoV-2 感染个体之间观察到的明显差异中发挥作用。利用在过去十年中成功开发用于人类基因组研究的工具和方法,大型国际合作开始探索 SARS-CoV-2 感染多种结局的遗传决定因素,特别强调疾病严重程度。全基因组关联研究确定了多个与 COVID-19 肺炎相关的常见遗传变异,其中大多数位于编码具有已知或疑似免疫功能的基因的区域。然而,理解每个基因座的确切因果变异所需的下游功能工作才刚刚开始。使用靶向、外显子组或基因组测序方法对罕见遗传变异的研究表明,参与 I 型干扰素反应的基因缺陷解释了一些最严重的病例。通过强调 SARS-CoV-2 发病机制和宿主-病毒相互作用中涉及的基因和途径,人类基因组研究不仅揭示了新的预防和治疗靶点,还为更个体化的疾病管理铺平了道路。