Abstract
Coronavirus disease 2019 (COVID-19) is a global public health concern. The purpose of this study was to investigate the association between genetic variants and SARS-CoV-2 infection and the COVID-19 severity in Chinese population. A total of 256 individuals including 87 symptomatic patients (tested positive for SARS-CoV-2), 84 asymptomatic cases, and 85 close contacts of confirmed patients (tested negative for SARS-CoV-2) were recruited from February 2020 to May 2020. We carried out the whole exome genome sequencing between the individuals and conducted a genetic association study for SARS-CoV-2 infection and the COVID-19 severity. In total, we analyzed more than 100,000 single-nucleotide polymorphisms. The genome-wide association study suggested potential correlation between genetic variability in POLR2A, ANKRD27, MAN1A2, and ERAP1 genes and SARS-CoV-2 infection susceptibility. The most significant gene locus associated with SARS-CoV-2 infection was located in POLR2A (p = 5.71 × 10 -6 ). Furthermore, genetic variants in PCNX2, CD200R1L, ZMAT3, PLCL2, NEIL3, and LINC00700 genes (p < 1 × 10 -5 ) were closely associated with the COVID-19 severity in Chinese population. Our study confirmed that new genetic variant loci had significant association with SARS-CoV-2 infection and the COVID-19 severity in Chinese population, which provided new clues for the studies on the susceptibility of SARS-CoV-2 infection and the COVID-19 severity. These findings may give a better understanding on the molecular pathogenesis of COVID-19 and genetic basis of heterogeneous susceptibility, with potential impact on new therapeutic options.
Keywords: COVID-19; GWAS; SARS-CoV2; Severity; Susceptibility.
【저자키워드】 COVID-19, SARS-CoV2, severity, GWAS, Susceptibility., 【초록키워드】 coronavirus disease, SARS-CoV-2, Coronavirus disease 2019, SARS-COV-2 infection, susceptibility, Sequencing, Genetic, COVID-19 severity, Polymorphisms, Genome sequencing, Asymptomatic, Patient, Single-nucleotide polymorphisms, Genome-wide association study, genetic variability, genetic variants, Genetic variant, GWAS, molecular, correlation, therapeutic options, association, close contact, genetic association, Exome, locus, global public health, individual, Chinese, pathogenesis of COVID-19, heterogeneous, loci, positive, ERAP1, ANKRD27, CD200R1L, LINC00700, MAN1A2, NEIL3, PCNX2, PLCL2, POLR2A, ZMAT3, tested, analyzed, carried, recruited, conducted, provided, suggested, single-nucleotide, symptomatic patient, 【제목키워드】 association, Chinese,