Human-genetic variants associated with susceptibility to SARS-CoV-2 infection.

Publication date: Mar 20, 2025

SARS-CoV-2, the third major coronavirus of the 21st century, causing COVID-19 disease, profoundly impacts public health and workforces worldwide. Identifying individuals at heightened risk of SARS-CoV-2 infection is crucial for targeted interventions and preparedness. This study investigated 35 SNVs within viral infection-associated genes in SARS-CoV-2 patients and uninfected controls from the Basque Country (March 2020-July 2021). Its primary aim was to uncover genetic markers indicative of SARS-CoV-2 susceptibility and explore genetic predispositions to infection. Association analyses revealed previously unreported associations between SNVs and susceptibility. Haplotype analyses uncovered novel links between haplotypes and susceptibility, surpassing individual SNV associations. Descriptive modelling identified key susceptibility factors, with rs11246068-CC (IFITM3), rs5742933-GG (ORMDL1), rs35337543-CG (IFIH1), and GGGCT (rs2070788, rs2298659, rs17854725, rs12329760, rs3787950) variation in TMPRSS2 emerging as main infection-susceptibility indicators for a COVID-19 pandemic situation. These findings underscore the importance of integrated SNV and haplotype analyses in delineating susceptibility to SARS-CoV-2 and informing proactive prevention strategies. The genetic markers profiled in this study offer valuable insights for future pandemic preparedness.

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Concepts Keywords
Basque Association analysis
Coronavirus COVID-19
July Descriptive model
Pandemic Genetic marker
Haplotype analysis
SNaPShot

Semantics

Type Source Name
disease IDO susceptibility
disease MESH SARS-CoV-2 infection
pathway REACTOME SARS-CoV-2 Infection
disease MESH viral infection
disease IDO country
disease MESH infection
disease IDO production
disease IDO process
drug DRUGBANK Coenzyme M
drug DRUGBANK Saquinavir
disease IDO deoxyribonucleic acid
disease IDO ribonucleic acid
drug DRUGBANK Serine
disease MESH taste disorders
disease IDO host
disease MESH cytokine storms
pathway REACTOME Glucose metabolism
disease MESH inflammation
disease IDO immune response
disease MESH respiratory diseases
drug DRUGBANK Iron
disease MESH respiratory failure

Original Article

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