Genome-wide association study of SARS-CoV-2 infection in Chinese population

• Published in: European journal of clinical microbiology & infectious diseases Vol. 41; no. 9; pp. 1155 - 1163
• Main Authors: Fan, Jie, Long, Quan-Xin, Ren, Ji-Hua, Chen, Hao, Li, Meng-Meng, Cheng, Zheng, Chen, Juan, Zhou, Li, Huang, Ai-Long
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.09.2022; Springer Nature B.V
• Subjects: Biomedical and Life Sciences; Biomedicine; Coronaviruses; COVID-19; Gene sequencing; Genes; Genetic diversity; Genetic variability; Genetic variance; Genome-wide association studies; Genomes; Infections; Internal Medicine; Medical Microbiology; Nucleotides; Original; Original Article; Pathogenesis; Population; Population studies; Public health; Severe acute respiratory syndrome coronavirus 2; Single-nucleotide polymorphism; Viral diseases; Whole genome sequencing; COVID-19; SARS-CoV2; Severity; GWAS; Susceptibility
• ISSN: 0934-9723; 1435-4373; 1435-4373
• DOI: 10.1007/s10096-022-04478-5

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.