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1.
Eur J Med Genet ; 64(6): 104227, 2021 Jun.
Article in English | MEDLINE | ID: covidwho-1188514

ABSTRACT

The identification of high-risk factors for the infection by SARS-CoV-2 and the negative outcome of COVID-19 is crucial. The genetic background of the host might account for individual responses to SARS-CoV-2 infection besides age and comorbidities. A list of candidate polymorphisms is needed to drive targeted screens, given the existence of frequent polymorphisms in the general population. We carried out text mining in the scientific literature to draw up a list of genes referable to the term "SARS-CoV*". We looked for frequent mutations that are likely to affect protein function in these genes. Ten genes, mostly involved in innate immunity, and thirteen common variants were identified, for some of these the involvement in COVID-19 is supported by publicly available epidemiological data. We looked for available data on the population distribution of these variants and we demonstrated that the prevalence of five of them, Arg52Cys (rs5030737), Gly54Asp (rs1800450) and Gly57Glu (rs1800451) in MBL2, Ala59Thr (rs25680) in CD27, and Val197Met (rs12329760) in TMPRSS2, correlates with the number of cases and/or deaths of COVID-19 observed in different countries. The association of the TMPRSS2 variant provides epidemiological evidence of the usefulness of transmembrane protease serine 2 inhibitors for the cure of COVID-19. The identified genetic variants represent a basis for the design of a cost-effective assay for population screening of genetic risk factors in the COVID-19 pandemic.


Subject(s)
COVID-19/genetics , COVID-19/immunology , Genetic Predisposition to Disease , Immunity, Innate , SARS-CoV-2/pathogenicity , Data Mining , Gene Frequency , Genetic Variation , Host Microbial Interactions , Humans , Mannose-Binding Lectin/genetics , Mannose-Binding Lectin/immunology , Polymorphism, Single Nucleotide , Risk Factors , Serine Endopeptidases/genetics , Serine Endopeptidases/immunology , Tumor Necrosis Factor Receptor Superfamily, Member 7/genetics , Tumor Necrosis Factor Receptor Superfamily, Member 7/immunology
2.
Signal Transduct Target Ther ; 5(1): 192, 2020 09 07.
Article in English | MEDLINE | ID: covidwho-748172

Subject(s)
Betacoronavirus/pathogenicity , Coronavirus Infections/immunology , Cytokine Release Syndrome/immunology , Gene Expression Regulation/immunology , Lymphopenia/immunology , Pneumonia, Viral/immunology , T-Lymphocytes/immunology , Adult , Aged , Aged, 80 and over , Betacoronavirus/immunology , Biomarkers/blood , COVID-19 , Coronavirus Infections/diagnosis , Coronavirus Infections/genetics , Coronavirus Infections/mortality , Cytokine Release Syndrome/diagnosis , Cytokine Release Syndrome/genetics , Cytokine Release Syndrome/mortality , Disease Progression , Female , Hepatitis A Virus Cellular Receptor 2/blood , Hepatitis A Virus Cellular Receptor 2/genetics , Hepatitis A Virus Cellular Receptor 2/immunology , Humans , Indoleamine-Pyrrole 2,3,-Dioxygenase/blood , Indoleamine-Pyrrole 2,3,-Dioxygenase/genetics , Indoleamine-Pyrrole 2,3,-Dioxygenase/immunology , Lymphocyte Count , Lymphopenia/diagnosis , Lymphopenia/genetics , Lymphopenia/mortality , Male , Middle Aged , Pandemics , Pneumonia, Viral/diagnosis , Pneumonia, Viral/genetics , Pneumonia, Viral/mortality , Retrospective Studies , SARS-CoV-2 , Severity of Illness Index , Survival Analysis , T-Lymphocytes/virology , Tumor Necrosis Factor Receptor Superfamily, Member 7/blood , Tumor Necrosis Factor Receptor Superfamily, Member 7/genetics , Tumor Necrosis Factor Receptor Superfamily, Member 7/immunology , Tumor Necrosis Factor Receptor Superfamily, Member 9/blood , Tumor Necrosis Factor Receptor Superfamily, Member 9/genetics , Tumor Necrosis Factor Receptor Superfamily, Member 9/immunology
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