采用极端表型方法研究宿主遗传学与新冠病毒疾病结局。
Extreme phenotypes approach to investigate host genetics and COVID-19 outcomes.
作者信息
Naslavsky Michel Satya, Vidigal Mateus, Matos Larissa do Rêgo Barros, Cória Vivian Romanholi, Batista Junior Pedro Benedito, Razuk Álvaro, Saldiva Paulo Hilário Nascimento, Dolhnikoff Marisa, Schidlowski Laire, Prando Carolina, Cunha-Neto Edécio, Condino-Neto Antonio, Passos-Bueno Maria Rita, Zatz Mayana
机构信息
Universidade de São Paulo, Instituto de Biociências, Departamento de Genética e Biologia Evolutiva, Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, São Paulo, SP, Brazil.
Instituto Prevent Senior, São Paulo, SP, Brazil.
出版信息
Genet Mol Biol. 2021 Mar 1;44(1 Suppl 1):e20200302. doi: 10.1590/1678-4685-GMB-2020-0302. eCollection 2021.
COVID-19 comprises clinical outcomes of SARS-CoV-2 infection and is highly heterogeneous, ranging from asymptomatic individuals to deceased young adults without comorbidities. There is growing evidence that host genetics play an important role in COVID-19 severity, including inborn errors of immunity, age-related inflammation and immunosenescence. Here we present a brief review on the known order of events from infection to severe system-wide disturbance due to COVID-19 and summarize potential candidate genes and pathways. Finally, we propose a strategy of subject's ascertainment based on phenotypic extremes to take part in genomic studies and elucidate intrinsic risk factors involved in COVID-19 severe outcomes.
新型冠状病毒肺炎（COVID-19）包括严重急性呼吸综合征冠状病毒2（SARS-CoV-2）感染的临床结果，具有高度异质性，从无症状个体到无合并症的年轻成年人死亡病例都有。越来越多的证据表明，宿主遗传学在COVID-19的严重程度中起重要作用，包括先天性免疫缺陷、年龄相关炎症和免疫衰老。在此，我们简要综述了已知的从COVID-19感染到严重的全身系统紊乱的事件顺序，并总结了潜在的候选基因和途径。最后，我们提出了一种基于表型极端情况的受试者确定策略，以参与基因组研究并阐明与COVID-19严重后果相关的内在风险因素。
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