Genetic Screening for TLR7 Variants in Young and Previously Healthy Men With Severe COVID-19
Solanich, Xavier (Hospital Universitari de Bellvitge)
Vargas-Parra, Gardenia (Centro de Investigación Biomédica en Red de Cáncer)
Van der Made, Caspar I oud (University Medical Center)
Schuurs-Hoeijmakers, Janneke (Radboud University Medical Center)
Antolí, Arnau (Hospital Universitari de Bellvitge)
Del Valle, Jesús (Centro de Investigación Biomédica en Red de Cáncer)
Rocamora-Blanch, Gemma (Hospital Universitari de Bellvitge)
Setién, Fernando (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Esteller, M. (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras)
Van Reijmersdal, Simon V. (Radboud University Medical Center)
Riera Mestre, Antoni (Universitat de Barcelona)
Sabater-Riera, Joan (Hospital Universitari de Bellvitge)
Capella, Gabriel (Centro de Investigación Biomédica en Red de Cáncer)
Van de Veerdonk, Frank L v (Radboud University Medical Center)
Van der Hoven, Ben (Erasmus Medical Center)
Corbella, Xavier (Universitat Internacional de Catalunya)
Hoischen, Alexander (Radboud University Medical Center)
Lazaro Garcia, Conxi (Centro de Investigación Biomédica en Red de Cáncer)

Data:	2021
Resum:	Introduction: Loss-of-function TLR7 variants have been recently reported in a small number of males to underlie strong predisposition to severe COVID-19. We aimed to determine the presence of these rare variants in young men with severe COVID-19. Methods: We prospectively studied males between 18 and 50 years-old without predisposing comorbidities that required at least high-flow nasal oxygen to treat COVID-19. The coding region of TLR7 was sequenced to assess the presence of potentially deleterious variants. Results: TLR7 missense variants were identified in two out of 14 patients (14. 3%). Overall, the median age was 38 (IQR 30-45) years. Both variants were not previously reported in population control databases and were predicted to be damaging by in silico predictors. In a 30-year-old patient a maternally inherited variant [c. 644A.
Ajuts:	European Commission 779257 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-1282 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-496 Instituto de Salud Carlos III PI19/00553 Fundació la Marató de TV3 202115-30-31
Nota:	Contract grant sponsor: the Carlos III National Health Institute funded by FEDER funds - a way to build Europe - [PI19/00553 and CIBERONC]; the Government of Catalonia [2017SGR1282 and 2017SGR496]. AH is supported by the Solve-RD project. The Solve-RD project has received funding from the European Union's Horizon 2020 research and innovation programme under grant agreement No. 779257. FV was supported by a ZonMW (The Netherlands Organization for Health Research and Development) Vidi grant (No. 91718351). This research was part of the Netherlands X-omics Initiative and partially funded by NWO (The Netherlands Organization for Scientific Research; project 184.034.019).
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Publicat a:	Frontiers in immunology, Vol. 12 (23 2021) , p. 719115, ISSN 1664-3224

DOI: 10.3389/fimmu.2021.719115
PMID: 34367187

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