遗传

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重症新型冠状病毒肺炎患者遗传易感性研究进展

刘文兵1, 2,刘丹1,闫进1,刘欣1, 2,王前飞1, 2   

  1. 1.中国科学院北京基因组研究所(国家生物信息中心),中国科学院精准基因组医学重点实验室,北京 100101

    2.中国科学院大学,北京 100049

  • 收稿日期:2022-03-06 修回日期:2022-05-25 出版日期:2022-06-10 发布日期:2022-06-10
  • 通讯作者: 王前飞
  • 基金资助:
    北京市自然科学基金资助项目(危重症新冠病毒肺炎细胞因子风暴产生的先天遗传基础)

Genetic predisposition in patients with severe COVID-19

Wenbing Liu1, 2, Dan Liu1, Jin Yan1, Xin Liu1, 2, Qianfei Wang1, 2   

  1. 1.CAS Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics (China National Center for Bioinformation,), Chinese Academy of Sciences, Beijing 100101, China

    2.University of Chinese Academy of Sciences, Beijing 100049 , China

  • Received:2022-03-06 Revised:2022-05-25 Online:2022-06-10 Published:2022-06-10

摘要: 新型冠状病毒肺炎是由新型冠状病毒感染引起的全球大流行疾病。患者呈现出无症状感染、轻症到(危)重症不同严重程度的临床表现。部分重症患者因发生细胞因子风暴而出现多器官功能衰竭并最终导致死亡。除性别、年龄、基础疾病(如高血压、糖尿病)等增加重型感染风险外,宿主先天遗传缺陷也被认为与疾病严重程度(包括细胞因子风暴的发生)密切相关。在重症患者中,相继发现与病毒识别、杀伤等相关的关键基因(如TLR7、UNC13D等)先天遗传变异。本文主要总结了宿主抗病毒免疫应答机制及与新型冠状病毒感染严重程度相关的先天变异基因,以期为新型冠状病毒肺炎的早期干预和分层治疗提供遗传学依据。

关键词: 重症新型冠状病毒肺炎患者, 先天遗传变异, 免疫缺陷

Abstract: The coronavirus disease 2019 (COVID-19) is a global pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. COVID-19 has a variety of clinical manifestations, ranging from asymptomatic infection or mild symptoms to severe symptoms. Severe COVID-19 patients experience cytokine storm, resulting in multi-organ failure and even death. Male gender, old age, and pre-existing comorbidities (such as hypertension and diabetes ) are risk factors for COVID-19 severity. Recently, a series of studies suggested that genetic defects might also be related to disease severity and the cytokine storm occurence. Genetic variants in key viral immune genes, such as TLR7 and UNC13D, have been identified in severe COVID-19 patients from previous reports. In this review, we summarize the mechanisms underlying immune responses against SARS-CoV-2 and genetic variants that associated with the severity of COVID-19. The study of genetic basis of COVID-19 will be of great benefit for early disease detection and intervention.

Key words: severe COVID-19 patients, germline variants, immunodeficiency