학술논문
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
Document Type
Academic Journal
Author
Baldassarri M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Fava F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.; Fallerini C; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Daga S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Benetti E; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Zguro K; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Amitrano S; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.; Valentino F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Doddato G; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Giliberti A; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Di Sarno L; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Palmieri M; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Carriero ML; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Alaverdian D; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Beligni G; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Iuso N; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Castelli F; Department of Infectious and Tropical Diseases, University of Brescia and ASST Spedali Civili Hospital, 25123 Brescia, Italy.; Quiros-Roldan E; Department of Infectious and Tropical Diseases, University of Brescia and ASST Spedali Civili Hospital, 25123 Brescia, Italy.; Mondelli MU; Department of Internal Medicine and Therapeutics, University of Pavia, 27100 Pavia, Italy.; Division of Infectious Diseases and Immunology, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy.; Miceli R; Clinical Epidemiology and Trial Organization, Department of Applied Research and Technological Development, Fondazione IRCCS Istituto Nazionale Tumori di Milano, 20133 Milan, Italy.; Frullanti E; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Furini S; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Mari F; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.; Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy.; Gabbi C; Independent Researcher, 20145 Milan, Italy.; On Behalf Of The Gen-Covid Multicenter Study
Source
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE
Subject
Language
English
ISSN
2075-4426
Abstract
The clinical presentation of COVID-19 is extremely heterogeneous, ranging from asymptomatic to severely ill patients. Thus, host genetic factors may be involved in determining disease presentation and progression. Given that carriers of single cystic fibrosis (CF)-causing variants of the CFTR gene-CF-carriers-are more susceptible to respiratory tract infections, our aim was to determine their likelihood of undergoing severe COVID-19. We implemented a cohort study of 874 individuals diagnosed with COVID-19, during the first pandemic wave in Italy. Whole exome sequencing was performed and validated CF-causing variants were identified. Forty subjects (16 females and 24 males) were found to be CF-carriers. Among mechanically ventilated patients, CF-carriers were more represented (8.7%) and they were significantly ( p < 0.05) younger (mean age 51 years) compared to noncarriers (mean age 61.42 years). Furthermore, in the whole cohort, the age of male CF-carriers was lower, compared to noncarriers ( p < 0.05). CF-carriers had a relative risk of presenting an abnormal inflammatory response (CRP ≥ 20 mg/dL) of 1.69 ( p < 0.05) and their hazard ratio of death at day 14 was 3.10 ( p < 0.05) in a multivariate regression model, adjusted for age, sex and comorbidities. In conclusion, CF-carriers are more susceptible to the severe form of COVID-19, showing also higher risk of 14-day death.