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

被引：0

作者：

Azcarate, Daniel ^{[1
]}

Arsuaga, Felix Olasagasti ^{[2
]}

Rodriguez, Eva Granizo ^{[1
]}

Arana-Arri, Eunate ^{[3
]}

Espana, Pedro Pablo ^{[4
]}

Intxausti, Maider ^{[5
]}

Sancho, Cristina ^{[6
]}

Melendez, Aitor Garcia de Vicuna ^{[7
]}

Ibarrondo, Oliver ^{[8
]}

de Pancorbo, Marian M. ^{[1
]}

机构：

[1] Univ Basque Country, Zool & Anim Cellular Biol Dept, BIOMICs Res Grp BIOMICS & Microfluid Cluster, Fac Sci & Technol, Biscay 48940, Basque Country, Spain

[2] Univ Basque Country, Biochem & Mol Biol Dept, BIOMICs Res Grp BIOMICS & Microfluid Cluster, Fac Pharm, Alava 01006, Basque Country, Spain

[3] Cruces Univ Hosp, Clin Epidemiol Unit, Biscay 48903, Basque Country, Spain

[4] Galdakao Usansolo Univ Hosp, Pulmonol Serv, Biscay 48960, Basque Country, Spain

[5] Alava Univ Hosp Txagorritxu, Pulmonol Serv, Alava 01009, Basque Country, Spain

[6] Basurto Univ Hosp, Dept Pneumol, Biscay 48013, Basque Country, Spain

[7] Gurutzeta Hosp Basque Hlth Serv, Emergency Dept, Biscay 48903, Basque Country, Spain

[8] Debagoiena AP OSI Res Unit, Stat & Hlth Econ Res, Gipuzkoa 20500, Basque Country, Spain

来源：

GENE | 2025年 / 953卷

关键词：

Genetic marker; COVID-19; Association analysis; Haplotype analysis; Descriptive model; SNaPShot; ACE2; CORONAVIRUS; RESPONSES; RECEPTOR; PROTEIN;

D O I：

10.1016/j.gene.2025.149423

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 infectionassociated 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 infectionsusceptibility 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.

引用

页数：16

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