C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age
Abstract
:1. Introduction
2. Results
3. Discussion
4. Materials and Methods
4.1. Patients
4.2. C9orf72 Genotyping
4.3. Statistics
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Appendix A
- Collaborators of GEN-COVID Multicenter Study (https://sites.google.com/dbm.unisi.it/gen-covid) (Accessed on 28 June 2021)Francesca Mari (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy), Sergio Daga (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Elisa Benetti (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies), Simone Furini (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies), Chiara Fallerini (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Floriana Valentino (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Gabriella Doddato (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Annarita Giliberti (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Rossella Tita (Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy), Mirella Bruttini (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy), Susanna Croci (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Anna Maria Pinto (Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy), Maria Antonietta Mencarelli (Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy), Caterina Lo Rizzo (Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy), Francesca Montagnani (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Dept of Medical Sciences, Infectious and Tropical Diseases Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy), Mario Tumbarello (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Dept of Medical Sciences, Infectious and Tropical Diseases Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy), Ilaria Rancan (Dept of Medical Sciences, Infectious and Tropical Diseases Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy), Laura Di Sarno (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Maria Palmieri (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Miriam Lucia Carriero (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy), Massimiliano Fabbiani (Dept of Medical Sciences, Infectious and Tropical Diseases Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy), Barbara Rossetti (Dept of Medical Sciences, Infectious and Tropical Diseases Unit, Azienda Ospedaliera Universitaria Senese, Siena, Italy), Elena Bargagli (Unit of Respiratory Diseases and Lung Transplantation, Department of Internal and Specialist Medicine, University of Siena), Laura Bergantini (Unit of Respiratory Diseases and Lung Transplantation, Department of Internal and Specialist Medicine, University of Siena), Miriana D’Alessandro (Unit of Respiratory Diseases and Lung Transplantation, Department of Internal and Specialist Medicine, University of Siena), Paolo Cameli (Unit of Respiratory Diseases and Lung Transplantation, Department of Internal and Specialist Medicine, University of Siena), David Bennett (Unit of Respiratory Diseases and Lung Transplantation, Department of Internal and Specialist Medicine, University of Siena), Federico Anedda (Dept of Emergency and Urgency, Medicine, Surgery and Neurosciences, Unit of Intensive Care Medicine, Siena University Hospital, Italy), Simona Marcantonio (Dept of Emergency and Urgency, Medicine, Surgery and Neurosciences, Unit of Intensive Care Medicine, Siena University Hospital, Italy), Sabino Scolletta (Dept of Emergency and Urgency, Medicine, Surgery and Neurosciences, Unit of Intensive Care Medicine, Siena University Hospital, Italy), Federico Franchi (Dept of Emergency and Urgency, Medicine, Surgery and Neurosciences, Unit of Intensive Care Medicine, Siena University Hospital, Italy), Maria Antonietta Mazzei (Department of Medical, Surgical and Neurosciences and Radiological Sciences, Unit of Diagnostic Imaging, University of Siena), Susanna Guerrini (Department of Medical, Surgical and Neurosciences and Radiological Sciences, Unit of Diagnostic Imaging, University of Siena), Edoardo Conticini (Rheumatology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Le Scotte, Italy), Luca Cantarini (Rheumatology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Le Scotte, Italy), Bruno Frediani (Rheumatology Unit, Department of Medicine, Surgery and Neurosciences, University of Siena, Policlinico Le Scotte, Italy), Danilo Tacconi (Department of Specialized and Internal Medicine, Infectious Diseases Unit, San Donato Hospital Arezzo, Italy), Chiara Spertilli Raffaelli (Department of Specialized and Internal Medicine, Infectious Diseases Unit, San Donato Hospital Arezzo, Italy), Marco Feri (Dept of Emergency, Anesthesia Unit, San Donato Hospital, Arezzo, Italy), Alice Donati (Dept of Emergency, Anesthesia Unit, San Donato Hospital, Arezzo, Italy), Raffaele Scala (Department of Specialized and Internal Medicine, Pneumology Unit and UTIP, San Donato Hospital, Arezzo, Italy), Luca Guidelli (Department of Specialized and Internal Medicine, Pneumology Unit and UTIP, San Donato Hospital, Arezzo, Italy), Genni Spargi (Department of Emergency, Anesthesia Unit, Misericordia Hospital, Grosseto, Italy), Marta Corridi (Department of Emergency, Anesthesia Unit, Misericordia Hospital, Grosseto, Italy), Cesira Nencioni (Department of Specialized and Internal Medicine, Infectious Diseases Unit, Misericordia Hospital, Grosseto, Italy), Leonardo Croci (Department of Specialized and Internal Medicine, Infectious Diseases Unit, Misericordia Hospital, Grosseto, Italy), Gian Piero Caldarelli (Laboratory Medicine Department, Misericordia Hospital, Grosseto, Italy), Maurizio Spagnesi (Department of Preventive Medicine, Azienda USL Toscana Sud Est, Italy), Paolo Piacentini (Department of Preventive Medicine, Azienda USL Toscana Sud Est, Italy), Maria Bandini (Department of Preventive Medicine, Azienda USL Toscana Sud Est, Italy), Elena Desanctis (Department of Preventive Medicine, Azienda USL Toscana Sud Est, Italy), Silvia Cappelli (Department of Preventive Medicine, Azienda USL Toscana Sud Est, Italy), Anna Canaccini (Territorial Scientific Technician Department, Azienda USL Toscana Sud Est, Italy), Agnese Verzuri (Territorial Scientific Technician Department, Azienda USL Toscana Sud Est, Italy), Valentina Anemoli (Territorial Scientific Technician Department, Azienda USL Toscana Sud Est, Italy), Agostino Ognibene (Laboratory Medicine Department, San Donato Hospital, Arezzo, Italy), Alessandro Pancrazi (Laboratory Medicine Department, San Donato Hospital, Arezzo, Italy), Maria Lorubbio (Laboratory Medicine Department, San Donato Hospital, Arezzo, Italy), Massimo Vaghi (Chirurgia Vascolare, Ospedale Maggiore di Crema, Italy), Antonella D’Arminio Monforte (Department of Health Sciences, Clinic of Infectious Diseases, ASST Santi Paolo e Carlo, University of Milan, Italy), Federica Gaia Miraglia (Department of Health Sciences, Clinic of Infectious Diseases, ASST Santi Paolo e Carlo, University of Milan, Italy), Mario U. Mondelli (Division of Infectious Diseases and Immunology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Internal Medicine and Therapeutics, University of Pavia, Italy), Raffaele Bruno (Division of Infectious Diseases and Immunology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Internal Medicine and Therapeutics, University of Pavia, Italy), Vecchia Marco (Division of Infectious Diseases and Immunology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy), Stefania Mantovani (Division of Infectious Diseases and Immunology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy), Serena Ludovisi (Division of Infectious Diseases and Immunology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Department of Internal Medicine and Therapeutics, University of Pavia, Italy), Massimo Girardis (Department of Anesthesia and Intensive Care, University of Modena and Reggio Emilia, Modena, Italy), Sophie Venturelli (Department of Anesthesia and Intensive Care, University of Modena and Reggio Emilia, Modena, Italy), Stefano Busani (Department of Anesthesia and Intensive Care, University of Modena and Reggio Emilia, Modena, Italy), Andrea Cossarizza (Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia, Modena, Italy), Andrea Antinori (HIV/AIDS Department, National Institute for Infectious Diseases, IRCCS, Lazzaro Spallanzani, Rome, Italy), Alessandra Vergori (HIV/AIDS Department, National Institute for Infectious Diseases, IRCCS, Lazzaro Spallanzani, Rome, Italy), Arianna Emiliozzi (HIV/AIDS Department, National Institute for Infectious Diseases, IRCCS, Lazzaro Spal-lanzani, Rome, Italy), Stefano Rusconi (III Infectious Diseases Unit, ASST-FBF-Sacco, Milan, Italy; Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, Milan, Italy), Matteo Siano (Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, Milan, Italy), Arianna Gabrieli (Depart-ment of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, Milan, Italy), Agostino Riva (III Infectious Diseases Unit, ASST-FBF Sacco, Milan, Italy; Department of Biomedical and Clinical Sciences Luigi Sacco, University of Milan, Milan, Italy), Daniela Francisci (Infectious Diseases Clinic, Department of Medicine, Azienda Ospedaliera di Perugia and University of Perugia, Santa Maria Hospital, Perugia, Italy; Infectious Diseases Clinic, “Santa Maria” Hospital, University of Perugia, Perugia, Italy), Elisabetta Schiaroli (Infectious Diseases Clinic, Department of Medicine, Azienda Ospedaliera di Perugia and University of Perugia, Santa Maria Hospital, Perugia, Italy), Andrea Tommasi (Infectious Diseases Clinic, Department of Medicine, Azienda Ospedaliera di Perugia and University of Perugia, Santa Maria Hospital, Perugia, Italy), Francesco Paciosi (Infectious Diseases Clinic, Department of Medicine, Azienda Ospedaliera di Perugia and University of Perugia, Santa Maria Hospital, Perugia, Italy), Pier Giorgio Scotton (Department of Infectious Diseases, Treviso Hospital, Local Health Unit 2 Marca Trevigiana, Treviso, Italy), Francesca Andretta (Department of Infectious Diseases, Treviso Hospital, Local Health Unit 2 Marca Trevigiana, Treviso, Italy), Sandro Panese (Clinical Infectious Diseases, Mestre Hospital, Venezia, Italy), Renzo Scaggiante (Infectious Diseases Clinic, ULSS1, Belluno, Italy), Francesca Gatti (Infectious Diseases Clinic, ULSS1, Belluno, Italy), Saverio Giuseppe Parisi (Department of Molecular Medicine, University of Padova, Italy), Melania degli Antoni (Department of Infectious and Tropical Diseases, University of Brescia and ASST Spedali Civili Hospital, Brescia, Italy), Matteo Della Monica (Medical Genetics and Laboratory of Medical Genetics Unit, A.O.R.N. “Antonio Cardarelli”, Naples, Italy), Carmelo Piscopo (Medical Genetics and Laboratory of Medical Genetics Unit, A.O.R.N. “Antonio Cardarelli”, Naples, Italy), Mario Capasso (Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy; CEINGE Biotecnologie Avanzate, Naples, Italy; IRCCS SDN, Naples, Italy), Roberta Russo (Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy; CEINGE Biotecnologie Avanzate, Naples, Italy), Immacolata Andolfo (Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy; CEINGE Biotecnologie Avanzate, Naples, Italy), Achille Iolascon (Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy; CEINGE Biotecnologie Avanzate, Naples, Italy), Giuseppe Fiorentino (Unit of Respiratory Physiopathology, AORN dei Colli, Monaldi Hospital, Naples, Italy), Massimo Carella (Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Marco Castori (Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Giuseppe Merla (Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Gabriella Maria Squeo (Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Filippo Aucella (Department of Medical Sciences, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Pamela Raggi (Clinical Trial Office, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Carmen Marciano (Clinical Trial Office, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Rita Perna (Clinical Trial Office, Fondazione IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy), Matteo Bassetti (Department of Health Sciences, University of Genova, Genova, Italy; Infectious Diseases Clinic, Policlinico San Martino Hospital, IRCCS for Cancer Research Genova, Italy), Antonio Di Biagio (Department of Health Sciences, University of Genova, Genova, Italy; Infectious Diseases Clinic, Policlinico San Martino Hospital, IRCCS for Cancer Research Genova, Italy), Maurizio Sanguinetti (Microbiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Catholic University of Medicine, Rome, Italy; Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy), Luca Masucci (Microbiology, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Catholic University of Medicine, Rome, Italy; Department of Laboratory Sciences and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy), Serafina Valente (Department of Cardiovascular Diseases, University of Siena, Siena, Italy), Marco Mandalà (Otolaryngology Unit, University of Siena, Italy), Alessia Giorli (Otolaryngology Unit, University of Siena, Italy), Lorenzo Salerni (Otolaryngology Unit, University of Siena, Italy), Patrizia Zucchi (Department of Internal Medicine, ASST Valtellina e Alto Lario, Sondrio, Italy), Pierpaolo Parravicini (Department of Internal Medicine, ASST Valtellina e Alto Lario, Sondrio, Italy), Elisabetta Menatti (Study Coordinator Oncologia Medica e Ufficio Flussi, Sondrio, Italy), Stefano Baratti (Clinical Infectious Diseases, Mestre Hospital, Venezia, Italy), Tullio Trotta (First Aid Department, Luigi Curto Hospital, Polla, Salerno, Italy), Ferdinando Giannattasio (First Aid Department, Luigi Curto Hospital, Polla, Salerno, Italy), Gabriella Coiro (First Aid Department, Luigi Curto Hospital, Polla, Salerno, Italy), Fabio Lena (Local Health Unit-Pharmaceutical Department of Grosseto, Toscana Sud Est Local Health Unit, Grosseto, Italy), Domenico A. Coviello (U.O.C. Laboratorio di Genetica Umana, IRCCS Istituto G. Gaslini, Genova, Italy), Cristina Mussini (Infectious Diseases Clinics, University of Modena and Reggio Emilia, Modena, Italy), Giancarlo Bosio (Department of Respiratory Diseases, Azienda Ospedaliera di Cremona, Cremona, Italy), Enrico Martinelli (Department of Respiratory Diseases, Azienda Ospedaliera di Cremona, Cremona, Italy), Sandro Mancarella (U.O.C. Medicina, ASST Nord Milano, Ospedale Bassini, Cinisello Balsamo (MI), Italy), Luisa Tavecchia (U.O.C. Medicina, ASST Nord Milano, Ospedale Bassini, Cinisello Balsamo (MI), Italy), Mary Ann Belli (U.O.C. Medicina, ASST Nord Milano, Ospedale Bassini, Cinisello Balsamo (MI), Italy), Lia Crotti (Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy; Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy; Istituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin, Milan, Italy; Istituto Auxologico Italiano, IRCCS, Laboratory of Cardiovascular Genetics, Milan, Italy; Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD-Heart), Gianfranco Parati (Istituto Auxologico Italiano, IRCCS, Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital, Milan, Italy; Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy), Nicola Picchiotti (University of Siena, DIISM-SAILAB, Siena, Italy; Department of Mathematics, University of Pavia, Pavia, Italy), Marco Gori (University of Siena, DIISM-SAILAB, Siena, Italy; University Cote d’Azur, Inria, CNRS, I3S, Maasai), Chiara Gabbi (Independent Medical Scientist, Milan, Italy), Maurizio Sanarico (Independent Data Scientist, Milan, Italy), Stefano Ceri (Department of Electronics, Information and Bioengineering (DEIB), Politecnico di Milano, Milano, Italy), Pietro Pinoli (Department of Electronics, Information and Bioengineering (DEIB), Politecnico di Milano, Milano, Italy), Francesco Raimondi (Scuola Normale Superiore, Pisa, Italy), Filippo Biscarini (CNR-Consiglio Nazionale delle Ricerche, Istituto di Biologia e Biotecnologia Agraria (IBBA), Milano, Italy), Alessandra Stella (CNR-Consiglio Nazionale delle Ricerche, Istituto di Biologia e Biotecnologia Agraria (IBBA), Milano, Italy), Marco Rizzi (Unit of Infectious Diseases, ASST Papa Giovanni XXIII Hospital, Bergamo, Italy), Franco Maggiolo (Unit of Infectious Diseases, ASST Papa Giovanni XXIII Hospital, Bergamo, Italy), Diego Ripamonti (Unit of Infectious Diseases, ASST Papa Giovanni XXIII Hospital, Bergamo, Italy), Claudia Suardi (Fondazione per la ricerca Ospedale di Bergamo, Bergamo, Italy), Tiziana Bachetti (Direzione Scientifica, Istituti Clinici Scientifici Maugeri IRCCS, Pavia, Italy), Maria Teresa La Rovere (Istituti Clinici Scientifici Maugeri IRCCS, Department of Cardiology, Institute of Montescano, Pavia, Italy), Simona Sarzi-Braga (Istituti Clinici Scientifici Maugeri, IRCCS, Department of Cardiac Rehabilitation, Institute of Tradate (VA), Italy), Maurizio Bussotti (Istituti Clinici Scientifici Maugeri IRCCS, Department of Cardiology, Institute of Milan, Milan, Italy), Katia Capitani (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Core Research Laboratory, ISPRO, Florence, Italy), Kristina Zguro (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy), Simona Dei (Health Management, Azienda USL Toscana Sudest, Tuscany, Italy), Sabrina Ravaglia (IRCCS C. Mondino Foundation, Pavia, Italy), Rosangela Artuso (Medical Genetics Unit, Meyer Children’s University Hospital, Florence, Italy), Antonio Perrella (Department of Medicine, Pneumology Unit, Misericordia Hospital, Grosseto, Italy), Francesco Bianchi (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Department of Medicine, Pneumology Unit, Misericordia Hospital, Grosseto, Italy), Paola Bergomi (Department of Anesthesia and Intensive Care Unit, ASST Fatebenefratelli Sacco, Luigi Sacco Hospital, Polo Universitario, University of Milan, Milan), Emanuele Catena (Department of Anesthesia and Intensive Care Unit, ASST Fatebenefratelli Sacco, Luigi Sacco Hospital, Polo Universitario, University of Milan, Milan), Riccardo Colombo (Department of Anesthesia and Intensive Care Unit, ASST Fatebenefratelli Sacco, Luigi Sacco Hospital, Polo Universitario, University of Milan, Milan), Valentina Perticaroli (Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy; Medical Genetics, Department of Medical Biotechnologies, University of Siena, Italy; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Italy).
- Collaborators of GEVACOBA Study GroupMassimo Gennarelli (Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Genetics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy), Chiara Magri (Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy), Giorgio Basiotto (Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Clinical Chemistry Laboratory, Cytogenetics and Molecular Genetics Section, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy), Daniela Zizioli (Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy), Silvia Giliani (Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy; Clinical Chemistry Laboratory, Cytogenetics and Molecular Genetics Section, Diagnostic Department, ASST Spedali Civili di Brescia, Brescia, Italy; Angelo Nocivelli Institute for Molecular Medicine, Brescia, Italy), Eugenio Monti (Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy), Emanuele Focà (Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Division of Infectious and Tropical Diseases, ASST Spedali Civili di Brescia, Brescia, Italy), Cannio Carriero (Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Division of Infectious and Tropical Diseases, ASST Spedali Civili di Brescia, Brescia, Italy), Nicola Latronico (University Division of Anesthesiology and Critical Care Medicine, ASST Spedali Civili, 25123 Brescia, Italy; Department of Medical and Surgical Specialties, Radiological Sciences and Public Health, University of Brescia, Brescia, Italy), Alessandro Padovani (Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy; Neurology Unit, ASST Spedali Civili di Brescia), Duilio Brugnoni (Clinical Chemistry Laboratory, Diagnostic Department, ASST Spedali Civili di Brescia).
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COVID-19 (n = 240) | ALS (n = 93) | p * | |
---|---|---|---|
Sex, female (%) | 147 (61.25 %) | 55 (59.13 %) | 0.125 |
Mean age ± SD | 64.30 ± 12.18 | 64.74 ± 13.22 | 0.774 |
Age range | 30–95 | 33–89 | |
Caucasian ethnicity | 230 (95.83%) | 91 (97.85%) | 0.376 |
Average number of repeats ± SD | 4.37 ± 3.15 | 4.61 ± 2.89 | 0.378 |
Median number of repeats [interquartile range] | 2 [2–6] | 5 [2–7] | |
Range | 2–18 | 2–19 | |
Patients with >10 repeats (%) | 27 (11.25%) | 4 (4.30%) | 0.050 |
Alleles with >10 repeats (%) | 27 (5.63%) | 4 (2.15%) | 0.056 |
Normal Values | ≤10 Repeats (n = 213) | >10 Repeats (n = 27) | p | |
---|---|---|---|---|
Age, year Mean (±SD) | 64.76 (± 11.98) | 60.67 (± 13.37) | 0.090 | |
AST, U/L Mean (±SD) | 10–50 | 79.73 (± 79.88) | 73.40 (± 46.01) | 0.690 |
ALT, U/L Mean (±SD) | 18–39 | 74.60 (±94.05) | 59.913 (±29.86) | 0.458 |
Ferritin, ug/L Mean (±SD) | 30–400 | 1334.82 (±1541.88) | 1125.73 (±756.03) | 0.525 |
Creatinine, mg/dL Mean (±SD) | 0.7–1.2 | 1.40 (±1.35) | 1.54 (±2.33) | 0.651 |
Urea, mg/dL Mean (±SD) | 17–49 | 75.97 (±6.06) | 101.00 (±27.67) | 0.228 |
D-dimer, ng/mL Mean (± SD) | <232 | 1623.84 (±290.31) | 4552.09 (±2753.16) | 0.020 |
Albumin, g/L Mean (±SD) | 31.0–52.0 | 32.70 (±0.41) | 33.24 (±0.90) | 0.649 |
WBC, ×103/uL Mean (±SD) | 4.0–10.8 | 14.32 (±46.77) | 10.28 (±6.27) | 0.679 |
Lymphocytes, ×103/uL Mean (±SD) | 0.9–4.0 | 1.94 (±0.16) | 1.82 (±0.24) | 0.791 |
CRP, mg/L Mean (±SD) | <5.0 | 88.71 (±79.32) | 71.78 (±49.39) | 0.299 |
Platelets, ×103/uL Mean (±SD) | 130–400 | 343.01(±162.10) | 338.10 (±144.42) | 0.889 |
MV or NIV, n (%) | 77/213 (36%) | 15/27 (56%) | 0.053 |
Variables | OR (95% CI) | P |
---|---|---|
Repeats > 10 | 2.36 (1.04–5.37) | 0.040 |
Age, years | 1.01 (0.99–1.04) | 0.142 |
MV/NIV (n = 101) | Non-Hospitalized (n = 100) | p * | |
---|---|---|---|
Sex, female (%) | 23 (22.77%) | 49 (49%) | 0.0001 |
Mean age ± SD | 63.94 ± 9.07 | 51.97 ± 12.17 | 0.0001 |
Age range | 33–86 | 18–81 | |
Caucasian ethnicity | 97 (96.03%) | 100 (100%) | 0.1213 |
Average number of repeats ± SD | 4.86 ± 3.64 | 4.47± 3 | 0.408 |
Median number of repeats [interquartile range] | 3 [2–8] | 3 [2–6] | |
Range | 2–19 | 2–20 | |
Patients with >10 repeats (%) | 16 (15,84%) | 6 (6%) | 0.025 |
Alleles with >10 repeats (%) | 16 (7.92%) | 6 (3%) | 0.030 |
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Zanella, I.; Zacchi, E.; Piva, S.; Filosto, M.; Beligni, G.; Alaverdian, D.; Amitrano, S.; Fava, F.; Baldassarri, M.; Frullanti, E.; et al. C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age. Int. J. Mol. Sci. 2021, 22, 6991. https://doi.org/10.3390/ijms22136991
Zanella I, Zacchi E, Piva S, Filosto M, Beligni G, Alaverdian D, Amitrano S, Fava F, Baldassarri M, Frullanti E, et al. C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age. International Journal of Molecular Sciences. 2021; 22(13):6991. https://doi.org/10.3390/ijms22136991
Chicago/Turabian StyleZanella, Isabella, Eliana Zacchi, Simone Piva, Massimiliano Filosto, Giada Beligni, Diana Alaverdian, Sara Amitrano, Francesca Fava, Margherita Baldassarri, Elisa Frullanti, and et al. 2021. "C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age" International Journal of Molecular Sciences 22, no. 13: 6991. https://doi.org/10.3390/ijms22136991