新冠肺炎遗传易感基因的研究进展

doi:10.16288/j.yczz.23-215

遗传 ›› 2023, Vol. 45 ›› Issue (11): 963-975.doi: 10.16288/j.yczz.23-215

新冠肺炎遗传易感基因的研究进展

李元丰^1,²(), 吴天准³(), 陈顺琦², 王玉婷², 曾涛^4,⁵, 李若凡^4,⁵, 周钢桥^1,⁶()

1.中国人民解放军军事科学院军事医学研究院辐射医学研究所，医学蛋白质组全国重点实验室，国家蛋白质科学中心，北京 100850
2.河北大学化学与环境科学学院，保定 071002
3.广西医科大学附属肿瘤医院，南宁 530021
4.中国人民解放军医学院，北京 100853
5.中国人民解放军总医院第一医学中心肝胆胰外科医学部，北京 100853
6.南京医科大学公共卫生学院全球健康中心，南京 211166

收稿日期:2023-08-07 修回日期:2023-09-21 出版日期:2023-11-20 发布日期:2023-10-12
通讯作者: 周钢桥 E-mail:liyf_snp@163.com;wutianzhun@stu.gxmu.edu.cn;zhougq114@126.com
作者简介:李元丰，博士，副研究员，研究方向：医学遗传与基因组学。E-mail: liyf_snp@163.com;|吴天准，硕士研究生，专业方向：临床医学。E-mail: wutianzhun@stu.gxmu.edu.cn;
李元丰和吴天准并列第一作者。
基金资助:
广州实验室应急攻关项目(EKPG21-19);南京医科大学全球健康中心开放合作项目(JX103SYL202200313)

Progresses on genetic susceptibility of COVID-19

Yuanfeng Li^1,²(), Tianzhun Wu³(), Shunqi Chen², Yuting Wang², Tao Zeng^4,⁵, Ruofan Li^4,⁵, Gangqiao Zhou^1,⁶()

1. State Key Laboratory of Proteomics, National Center for Protein Sciences at Beijing, Beijing Institute of Radiation Medicine, Beijing 100850, China
2. College of Chemistry and Environmental Science, Hebei University, Baoding 071002, China
3. Guangxi Medical University Cancer Hospital, Nanning 530021, China
4. Medical School of Chinese PLA, Beijing 100853, China
5. Faculty of Hepato-Pancreato-Biliary Surgery, First Medical Center, Chinese PLA General Hospital, Beijing 100853, China
6. Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing 211166, China

Received:2023-08-07 Revised:2023-09-21 Published:2023-11-20 Online:2023-10-12
Contact: Gangqiao Zhou E-mail:liyf_snp@163.com;wutianzhun@stu.gxmu.edu.cn;zhougq114@126.com
Supported by:
Emergency Key Program of Guangzhou Laboratory(EKPG21-19);Open Cooperation Project of Nanjing Medical University Global Health Center(JX103SYL202200313)

摘要/Abstract

摘要：

新型冠状病毒(severe acute respiratory syndrome coronavirus 2，SARS-CoV-2)感染人体后，个体间存在显著不同的新冠肺炎(corona virus disease 2019，COVID-19)临床症状。机体遗传因素在新冠病毒感染后的临床转归过程中发挥重要的作用。以全基因组关联研究(genome-wide association studies, GWAS)为代表的遗传关联研究方法，已成功鉴定了多个与新冠肺炎相关的易感基因，为新冠肺炎防诊治措施的研发提供了理论基础。本文综述了新冠肺炎遗传易感基因的研究进展，包括多种表型、多个人群、多种遗传变异类型的新冠肺炎全基因组关联研究以及易感基因区域的精细定位研究等，旨在为新冠肺炎遗传易感基因的后续研究提供参考。

关键词: 新冠病毒, 新冠肺炎, 遗传易感基因

Abstract:

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection causes a broad clinical spectrum of coronavirus disease 2019 (COVID-19). Genetic factors might influence susceptibility to the SARS-CoV-2 infection or disease severity. Genome-wide association studies (GWASs) have identified multiple susceptible genes related to COVID-19 phenotypes, providing the scientific basis for the COVID-19 prevention and treatment. In this review, we summarize the recent progresses of COVID-19 susceptible genes, including the GWASs on multiple phenotypes of COVID-19, GWASs of COVID-19 in multiple ethnic populations, GWASs of COVID-19 based on multiple types of genetic variations, and the fine-mapping of the regions surrounding the susceptible genes.

Key words: SARS-CoV-2, COVID-19, Susceptibility gene

李元丰, 吴天准, 陈顺琦, 王玉婷, 曾涛, 李若凡, 周钢桥. 新冠肺炎遗传易感基因的研究进展[J]. 遗传, 2023, 45(11): 963-975.

Yuanfeng Li, Tianzhun Wu, Shunqi Chen, Yuting Wang, Tao Zeng, Ruofan Li, Gangqiao Zhou. Progresses on genetic susceptibility of COVID-19[J]. Hereditas(Beijing), 2023, 45(11): 963-975.

图/表 2

图1

表1

新冠肺炎的全基因组关联研究"

人群来源	病例/对照的数量	多态性位点或基因	主要科学发现	参考文献
意大利和西班牙	意大利：835名危重症患者和1255名对照；西班牙：775名危重症患者和950名对照	rs11385942、rs657152	发现3p21.31和9q34.2是危重型COVID-19的易感基因区域	[7]
英国	2244名危重症患者与匹配人群对照组	rs10735079、rs2109069、rs74956615、rs2236757	新发现4个危重型COVID-19的易感基因区域	[8]
全球	7491名危重症患者和48,400名对照个体	rs114301457、rs7528026、rs41264915、rs1123573、rs2271616、rs73064425等	新发现16个位点与危重型COVID-19显著相关	[6]
全球	24,202名危重症患者与匹配人群对照组	rs2478868、rs12046291、rs71658797、rs114301457、rs7528026、rs41264915等	新发现49个与COVID-19重症化显著关联的基因区域	[9]
全球	15，434名新冠阳性患者与匹配人群对照组	rs9411378、rs8176719、rs13078854	验证了ABO基因和3p21.31区域与COVID-19显著相关	[10]
全球	49，562名病例和200万对照个体	rs10490770、rs1886814、rs72711165、rs2109069、rs74956615、rs10774671等	发现13个位点与SARS-CoV-2的感染或COVID-19的严重程度相关	[11]
全球	125,584名新冠病例和超过250万对照个体	rs721917、rs117169628、rs35705950等	鉴定了7个与SARS-CoV-2感染相关的位点和16个与COVID-19疾病严重程度相关的位点	[12]
全球	52,630名新冠患者和70,4016名对照个体	rs7310667、rs13050728、rs505922、rs35081325等	定义了8种COVID-19相关风险表型	[13]
全球	47,298名阳性感染者且味觉或嗅觉丧失的新冠病例和22,543名阳性感染者且味觉或嗅觉正常的新冠对照组	rs7688383	首次发现SARS-CoV-2感染所致嗅觉或味觉丧失的遗传易感因素	[14]
中国	332名新冠患者和匹配的对照个体	rs6020298	首次在中国人群中开展的COVID-19遗传关联研究	[15]
中国	885名新冠重症或危重症患者和546名轻症或无症状患者	rs1712779、rs10831496	在中国人群中鉴定了2个与COVID-19重症化显著相关的位点	[16]
中国	1401名新冠患者与948名对照个体	rs1853837、rs8176719、rs74490654	新鉴定3个与COVID-19相关的易感基因区域(FOXP4-AS1、ABO和 MEF2B)	[17]
中国	632名新冠患者与3021名对照个体	rs2069837	鉴定了中国人群COVID-19易感位点rs2069837，该位点通过IL-6影响COVID-19的重症化风险	[18]
日本	2393名新冠患者与3289名对照个体	rs60200309	首篇日本人群COVID-19的GWAS。鉴定了5q35区域的DOCK2基因与COVID-19患者的重症化显著相关	[19]
全球	659名危重症患者和534 名无症状或轻症患者	TLR3、IRF7和IRF9等	鉴定了与COVID-19重症化相关的13个罕见变异位点	[20]
全球	1202名男性患者与331名对照个体	TLR7	发现X连锁隐性遗传的TLR7缺陷是重症COVID-19的遗传风险因素之一	[21]
全球	20,952名新冠患者和565,205名对照个体	rs769102632、rs1256764500、rs754119466、rs761377603、rs2287960	发现了8个与COVID-19显著相关的罕见变异	[22]
中国	451名新冠患者	无显著关联位点	揭示了可能在重症COVID-19患者中富集的信号通路、HC-pLoF变异和候选基因	[23]
全球	52,630名新冠患者和704,016名对照个体	rs190509934	新发现ACE2基因的罕见变异与COVID-19易感性相关	[24]

表1

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