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MeSH Disease

HGNC Genes

SARS-CoV-2 proteins

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    PNPLA3 HGNC and TLL-1 HGNC polymorphisms affect disease severity in patients with COVID-19 MESHD 

    Authors: Stefania Grimaudo; Emanuele Amodio; Rosaria Maria Pipitone; Carmelo Massimo Maida; Stefano Pizzo; Tullio Prestileo; Fabio Tramuto; Davide Sardina; Francesco Vitale; Alessandra Casuccio; Antonio Craxì

    doi:10.21203/rs.3.rs-40510/v1 Date: 2020-07-07 Source: ResearchSquare

    Introduction Albeit the pathogenesis of COVID-19 MESHD remains unclear, host’s genetic polymorphisms in genes i nfection MESHDand reinfection, i nflammation, MESHD or immune stimulation could play a role in determining the course and outcome. Methods We studied in the early phase of pandemic consecutive patients (N=383) with SARS-CoV-2 infection MESHD ARS-CoV-2 infection, MESHD whose subsequent clinical course was classified as mild or severe, the latter being characterised by admission to intensive therapy unit or d eath. MESHD Five host gene polymorphisms (M ERTK HGNCrs4374383, P NPLA3 HGNCrs738409, T LL-1 HGNCrs17047200, I FNL3 HGNCrs1297860, and INFL4 rs368234815) were assessed by using whole nucleic acids extracted from nasopharyngeal swabs. Specific protease cleavage sites of T LL-1 HGNCon the SARS-CoV-2 Spyke protein were predicted in silico. Results Male subjects and older patients were significantly at higher risk for a severe outcome (p=0.02 and p<0.001, respectively). By considering patients ≤ 65 years, after adjusting for potential confounding due to sex, an increased risk of severe outcome was found in subjects with the GG genotype of P NPLA3 HGNC(adj-OR: 4.69; 95% CI= 1.01-22.04) or TT genotype of T LL-1 HGNC(adj-OR=9.1; 95% CI= 1.45-57.3). In silico evaluation showed that T LL-1 HGNCis potentially involved in the Spike protein PROTEIN cleavage.Discussion Subjects carrying a GG genotype in P NPLA3 HGNCgene might have a constitutive upregulation of the N LRP3 HGNCinflammosome and be more prone to tissue damage when infected by SARS-CoV-2. The TT genotype in T LL-1 HGNCgene might affect its protease activity on the SARS-CoV-2 Spyke protein, enhancing the ability to i nfect MESHDor re-infect host’s cells. The untoward effect of these variants on disease course is evident in younger patients due to the relative absence of comorbidities as determinants of prognosis.

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MeSH Disease
HGNC Genes
SARS-CoV-2 Proteins


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