tetano
Editor, Senior Moderator
Gene
. 2025 Mar 20:149423.
doi: 10.1016/j.gene.2025.149423. Online ahead of print. Human-genetic variants associated with susceptibility to SARS-CoV-2 infection
Daniel Azcarate[SUP] 1 [/SUP], Felix Olasagasti Arsuaga[SUP] 2 [/SUP], Eva Granizo Rodriguez[SUP] 1 [/SUP], Eunate Arana-Arri[SUP] 3 [/SUP], Pedro Pablo España[SUP] 4 [/SUP], Maider Intxausti[SUP] 5 [/SUP], Cristina Sancho[SUP] 6 [/SUP], Aitor García de Vicuña Meléndez[SUP] 7 [/SUP], Oliver Ibarrondo[SUP] 8 [/SUP], Marian M de Pancorbo[SUP] 9 [/SUP]
Affiliations
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.
Keywords: Association analysis; COVID-19; Descriptive model; Genetic marker; Haplotype analysis; SNaPShot.
. 2025 Mar 20:149423.
doi: 10.1016/j.gene.2025.149423. Online ahead of print. Human-genetic variants associated with susceptibility to SARS-CoV-2 infection
Daniel Azcarate[SUP] 1 [/SUP], Felix Olasagasti Arsuaga[SUP] 2 [/SUP], Eva Granizo Rodriguez[SUP] 1 [/SUP], Eunate Arana-Arri[SUP] 3 [/SUP], Pedro Pablo España[SUP] 4 [/SUP], Maider Intxausti[SUP] 5 [/SUP], Cristina Sancho[SUP] 6 [/SUP], Aitor García de Vicuña Meléndez[SUP] 7 [/SUP], Oliver Ibarrondo[SUP] 8 [/SUP], Marian M de Pancorbo[SUP] 9 [/SUP]
Affiliations
- PMID: 40120867
- DOI: 10.1016/j.gene.2025.149423
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.
Keywords: Association analysis; COVID-19; Descriptive model; Genetic marker; Haplotype analysis; SNaPShot.