Genes, 2021-04, Vol.12 (4), p.596
2021
Details
- Autor(en) / Beteiligte
- Titel
- Protective Role of a TMPRSS2 Variant on Severe COVID-19 Outcome in Young Males and Elderly Women
- Ist Teil von
- Genes, 2021-04, Vol.12 (4), p.596
- Ort / Verlag
- Switzerland: MDPI AG
- Erscheinungsjahr
- 2021
- Link zum Volltext
- Quelle
- EZB Electronic Journals Library
- Beschreibungen/Notizen
- The protease encoded by the gene facilitates viral infections and has been implicated in the pathogenesis of SARS-CoV-2. We analyzed the sequence and correlated the protein variants with the clinical features of a cohort of 1177 patients affected by COVID-19 in Italy. Nine relatively common variants (allele frequency > 0.01) and six missense variants which may affect the protease activity according to PolyPhen-2 in HumVar-trained mode were identified. Among them, p.V197M (p.Val197Met) (rs12329760) emerges as a common variant that has a deleterious effect on the protease and a protective effect on the patients. Its role appears particularly relevant in two subgroups of patients-young males and elderly women-and among those affected by co-morbidities, where the variant frequency is higher among individuals who were mildly affected by the disease and did not need hospitalization or oxygen therapy than among those more severely affected, who required oxygen therapy, ventilation or intubation. This study provides useful information for the identification of patients at risk of developing a severe form of COVID-19, and encourages the usage of drugs affecting the expression of or inhibiting protein activity.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2073-4425eISSN: 2073-4425DOI: 10.3390/genes12040596Titel-ID: cdi_doaj_primary_oai_doaj_org_article_e046e2d473274b3cb6440bb8e3b8e6f7
- Format
- –
- Schlagworte
- Age, Aged, Amino acid sequence, Communication, Comorbidity, Coronaviruses, COVID-19, COVID-19 - epidemiology, COVID-19 - etiology, COVID-19 - genetics, COVID-19 - therapy, Disease, Estrogens, Female, Gene expression, Gene Frequency, Hospitalization, Humans, Intubation, Italy - epidemiology, Male, Males, Middle Aged, missense mutation, Morbidity, Mutation, Older people, Oxygen, Oxygen therapy, Polymorphism, Polymorphism, Single Nucleotide, Proteinase, Proteins, Respiration, Artificial, Serine Endopeptidases - chemistry, Serine Endopeptidases - genetics, Serine Endopeptidases - metabolism, Severe acute respiratory syndrome coronavirus 2, TMPRSS2, Treatment Outcome, V197M, Ventilation, Whole-Exome Sequencing (WES), Womens health