Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Institute of Biomedical Technologies, National Research Council (ITB-CNR), Segrate, MI, Italy.
Eur J Hum Genet. 2021 Jun;29(6):1019-1026. doi: 10.1038/s41431-021-00831-y. Epub 2021 Mar 1.
Germline variants in genes involved in SARS-CoV-2 cell entry and in host innate immune responses to viruses may influence the susceptibility to infection. This study used whole-genome analyses of lung tissue to identify polymorphisms acting as expression quantitative trait loci (eQTLs) for 60 genes of relevance to SARS-CoV-2 infection susceptibility. The expression of genes with confirmed or possible roles in viral entry-replication and in host antiviral responses was studied in the non-diseased lung tissue of 408 lung adenocarcinoma patients. No gene was differently expressed by sex, but APOBEC3H levels were higher and PARP12 levels lower in older individuals. A total of 125 cis-eQTLs (false discovery rate < 0.05) was found to modulate mRNA expression of 15 genes (ABO, ANPEP, AP2A2, APOBEC3D, APOBEC3G, BSG, CLEC4G, DDX58, DPP4, FURIN, FYCO1, RAB14, SERINC3, TRIM5, ZCRB1). eQTLs regulating ABO and FYCO1 were found in COVID-19 susceptibility loci. No trans-eQTLs were identified. Genetic control of the expression of these 15 genes, which encode putative virus receptors, proteins required for vesicle trafficking, enzymes that interfere with viral replication, and other restriction factors, may underlie interindividual differences in risk or severity of infection with SARS-CoV-2 or other viruses.
与 SARS-CoV-2 细胞进入和宿主先天抗病毒反应相关的基因中的种系变异可能会影响易感性。本研究使用肺组织全基因组分析,鉴定了 60 个与 SARS-CoV-2 感染易感性相关的基因的作为表达数量性状基因座(eQTL)的多态性。在 408 例肺腺癌患者的非病变肺组织中,研究了具有确认或可能作用于病毒进入-复制和宿主抗病毒反应的基因的表达。没有基因因性别而表达不同,但 APOBEC3H 的水平在年龄较大的个体中较高,PARP12 的水平较低。共发现 125 个顺式 eQTL(错误发现率<0.05),调节 15 个基因(ABO、ANPEP、AP2A2、APOBEC3D、APOBEC3G、BSG、CLEC4G、DDX58、DPP4、FURIN、FYCO1、RAB14、SERINC3、TRIM5、ZCRB1)的 mRNA 表达。调节 ABO 和 FYCO1 的 eQTL 位于 COVID-19 易感性位点。未鉴定出转录 eQTL。这些 15 个基因的表达受遗传调控,这些基因编码潜在的病毒受体、囊泡运输所需的蛋白、干扰病毒复制的酶和其他限制因子,可能是个体间 SARS-CoV-2 或其他病毒感染风险或严重程度差异的基础。