Λεπτομέρειες βιβλιογραφικής εγγραφής
| Τίτλος: |
Stratified analyses refine association between TLR7 rare variants and severe COVID-19 |
| Συγγραφείς: |
Boos, Jannik, van der Made, C.I., Ramakrishnan, G., Coughlan, E., Asselta, R., Löscher, B.S., Valenti, L.V.C., de Cid, Rafael, Bujanda, Luis, Julià Cano, Antonio, Pairo-Castineira, E., Baillie, J.K., May, S., Zametica, B., Heggemann, J., Albillos, Agustín, Banales, Jesus, Barretina, Jordi, Blay, Natalia, Bonfanti, Paolo, Buti, Maria, Fernandez, J., Marsal, Sara, Prati, D., Ronzoni, L., Sacchi, N., Rimoldi, V., Paraboschi, E.M., Bandera, A., Peyvandi, Flora, Grasselli, G., Blasi, Francesco, Malvestiti, F., Pelusi, S., Bianco, C., Miano, L., Lombardi, A., Invernizzi, P., Gerussi, A., Citerio, Giuseppe, Biondi, A., Valsecchi, M.G., Cazzaniga, M.E., Foti, Giuseppe, Beretta, I., D'Angiò, M., Bettini, L.R., Farré Ramon, Xavier, Iraola-Guzmán, S., Kogevinas, Manolis, Castaño-Vinyals, Gemma, Garcia-Etxebarria, K., Nafria, B., D'Amato, M., Palom, Adriana, Begg, C., Clohisey, S., Hinds, C., Horby, P., Knight, J., Ling, L., Maslove, D., McAuley, D., Millar, J., Montgomery, Hugh, Nichol, A., Openshaw, P.J.M., Pereira, A.C., Ponting, C.P., Rowan, K., McFarland, D., Cosgrove, D., Ahmed, A., Morris, A., Jakkula, S., Ali, A., Brady, M., Semple, M.G., Dale, S., Dance, A., Gledhill, L., Greig, J., Hanson, K., Holdroyd, K., Home, M., Kelly, D., Kitson, R., Matapure, L., Shankar-Hari, M., Melia, D., Mellor, S., Nortcliffe, T., Pinnell, J., Robinson, M., Shaw, L., Shaw, R., Thomis, L., Wilson, A., Wood, T., Summers, Charlotte, Bayo, L.A., Merwaha, E., Ishaq, T., Hanley, S., Hibbert, M., Tetla, D., Woodford, C., Durga, L., Kennard-Holden, G., Branney, D., Walsh, T., Frankham, J., Pitts, S., White, N., Laha, S., Verlander, M., Williams, A., Altabaibeh, A., Alvaro, A., Gilbert, K., Ma, L., Aravindan, L., Mostoles, L., Parmar, C., Simpson, K., Jetha, C., Booker, L., Pratley, A., Adams, C., Agasou, A., Arden, T., Bowes, A., Armstrong, R., Boyle, P., Beekes, M., Button, H., Capps, N., Carnahan, M., Carter, A., Childs, D., Donaldson, D., Hard, K., Hurford, F., Biggs, H., Hussain, Y., Javaid, A., Jones, J., Jose, S., Leigh, M., Martin, T., Millward, H., Motherwell, N., Rikunenko, R., Stickley, J., Boz, C., Summers, J., Ting, L., Tivenan, H., Tonks, L., Wilcox, R., Holland, M., Keenan, N., Lyons, M., Wassall, H., Marsh, C., Brown, A., Mahenthran, M., Carter, E., Kong, T., Blackman, H., Creagh-Brown, B., Donlon, S., Michalak-Glinska, N., Mtuwa, S., Pristopan, V., Salberg, A., Clark, R., Smith, E., Stone, S., Piercy, C., Verula, J., Burda, D., Montaser, R., Harden, L., Mayangao, I., Marriott, C., Bradley, P., Coutts, A., Harris, C., Anderson, S., Andrews, E., Birch, J., Collins, E., Hammerton, K., O'Leary, R., Clark, M., Purvis, S., Barber, R., Coyle, J., Hewitt, C., Hilldrith, A., Jackson-Lawrence, K., Shepardson, S., Wills, M., Butler, S., Tavares, S., Cunningham, A., Hindale, J., Arif, S., Cullum, L., Bean, S., Burt, K., Spivey, M., Demetriou, C., Eckbad, C., Hierons, S., Howie, L., Mitchard, S., Ramos López, Laura, Serrano-Ruiz, A., Das, S., White, K., Kelly, F., Cristiano, D., Dormand, N., Farzad, Z., Gummadi, M., Liyanage, K., Patel, B., Salmi, S., Sloane, G., Day, N., Thwaites, V., Varghese, M., Zborowski, A.C., Allan, J., Geary, T., Houston, G., Meikle, A., O'Brien, P., Forsey, M., Kaliappan, A., Donnelly, L., Nicholson, A., Riches, J., Vertue, M., Allan, E., Darlington, K., Davies, F., Easton, Jack, Kumar, S., Lean, R., Menzies, D., Duncan, E., Pugh, R., Qiu, X., Davies, L., Williams, H., Scanlon, J., Davies, G., Mackay, C., Lewis, J., Rees, S., Oblak, M., Fawkes, A., Popescu, M., Thankachen, M., Higham, A., Craig, J., Baruah, R., Morris, S., Ferguson, S., Shepherd, A., Prockter Moore, L.S., Fineran, P., Vizcaychipi, M.P., Gomes de Almeida Martins, L., Carungcong, J., Mohamed Ali, I.A., Beaumont, K., Blunt, M., Coton, Z., Curgenven, H., Elsaadany, M., Fernandes, K., Fourman, M.H., Ally, S.M., Rangarajan, H., Sarathy, V., Selvanayagam, S., Vedage, D., White, M., Gill, M., Paul, P., Ratnam, V., Shelton, S., Furlong, A., Wynter, I., Carmody, S., Page, V.J., Beith, C.M., Black, K., Clements, S., Morrison, A., Strachan, D., Taylor, M., Clarkson, M., Furniss, J., D'Sylva, S., Norman, K., Auld, F., Donnachie, J., Edmond, I., Prentice, L., Runciman, N., Salutous, D., Symon, L., Todd, A., Gallagher, B., Turner, P., Short, A., Sweeney, L., Murdoch, E., Senaratne, D., Hill, M., Kannan, T., Laura, W., Crawley, R., Crew, A., Gilchrist, T., Cunningham, M., Daniels, A., Harrison, L., Hope, S., Inweregbu, K., Jones, S., Lancaster, N., Matthews, J., Wray, G., Golightly, A., Langton, H., Prout, R., Watters, M., Novis, C., Barron, A., Collins, C., Kaul, S., Passmore, H., Prendergast, C., Reed, A., Griffiths, F., Rogers, P., Shokkar, R., Woodruff, M., Middleton, H., Polgar, O., Nolan, C., Mahay, K., Collier, D., Hormis, A., Maynard, V., Hafezi, K., Graham, C., Walker, R., Knights, E., Price, A., Thomas, A., Thorpe, C., Behan, T., Burnett, C., Hatton, J., Heeney, E., Hamilton, D., Mitra, A., Newton, M., Pollard, R., Stead, R., Amin, V., Anastasescu, E., Anumakonda, V., Karthik, K., Kausar, R., Reid, K., Hendry, R., Smith, J., Imeson-Wood, J., Skinner, D., Gaylard, J., Mullan, D., Newman, J., Crickmore, V., Debreceni, G., Wilkins, J., Law, A., Nicol, L., Reece-Anthony, R., Birt, M., Ghosh, A., Williams, E., Allen, L., Beranova, E., Crisp, N., Deery, J., Hazelton, T., Law, D., Knight, A., Price, C., Tilbey, S., Turki, S., Turney, S., Cooper, J., Finch, C., Liderth, S., Quinn, A., Waddington, N., Law, R., Coventry, T., Fowler, S., MacMahon, M., McGregor, A., Cowley, A., Highgate, J., Gregory, J., O'Connell, S., Smith, T., Barberis, L., Law, S., Gopal, S., Harris, N., Lake, V., Metherell, S., Radford, E., Daniel, A., Finn, J., Saha, R., Donnison, P., Lidstone-Scott, R., Trim, F., Eapen, B., Bough, L., Goodsell, J., Tutton, R., Williams, P., Williams, S., Winter-Goodwin, B., Macgillivray, L., Brickell, K., Smyth, M., Murphy, L., Coetzee, S., Gales, A., Otahal, I., Raj, M., Sell, C., Hilltout, P., Evitts, J., Maclean, A., Tyler, A., Waldron, J., Beesley, K., Board, S., Kubisz-Pudelko, A., Lewis, A., Perry, J., Pippard, L., Wood, D., Buckley, C., Mal, H., Barry, P., Flint, N., Rekha, P., Hales, D., Bunni, L., Jennings, C., Latif, M., Marshall, R., Subramanian, G., McGuigan, P.J., McCafferty, S., Wasson, C., Finn, S., Green, J., King, B., Campbell, A., Smuts, S., Duffield, J., Smith, O., Mallon, Lewis, Mcmaster, E., Claire, W., Botfield, L., Butler, Joanna, Dexter, C., Fletcher, J., Garg, A., Kuravi, A., Ranga, P., Virgilio, E., Belagodu, Z., Meikle, J., Fuller, B., Gherman, A., Olufuwa, O., Paramsothy, R., Stuart, C., Oakley, N., Kamundi, C., Tyl, D., Collins, K., Silva, P., Moore, S.C., Taylor, J., King, L., Coates, C., Crowley, M., Wakefield, P., Beadle, J., Johnson, L., Sargeant, J., Anderson, M., Brady, A., Morrice, K., Chan, R., Little, J., McIvor, S., Prady, H., Whittle, H., Mathew, B., Attwood, B., Parsons, P., Ward, G., Bremmer, P., Joe, W., Tracy, B., Jim, R., Davies, E., Sathe, S., Dennis, C., Parris, V., Srikaran, S., Sukha, A., Murphy, S., Clarke, N., Whiteside, J., Mascarenhas, M., Donaldson, A., Matheson, J., Barrett, F., O'Hara, M., Okeefe, L., Bradley, C., Eastgate-Jackson, C., Hellen, M., Filipe, H., Martin, D., Maharajh, A., Garcia, S.M., Pakou, G., De Neef, M., Dent, K., Horsley, E., Akhtar, M.N., Pearson, S., Oosthuyzen, W., Potoczna, D., Spencer, S., Clapham, M., Harper, R., Poultney, U., Rice, P., Mutch, R., Armstrong, L., Bates, H., Dooks, E., Zheng, C., Farquhar, F., Hairsine, B., McParland, C., Packham, S., Bi, R., Scholefield, B., Ashton, L., George, L., Twiss, S., Wright, D., Chen, Jiquan, Chablani, M., Kirkby, A., Netherton, K., Davies, K., O'Brien, L., Omar, Z., Perkins, E., Lewis, T., Sutherland, I., Burns, K., Parkinson, N., Ben Chandler, D., Elliott, K., Mallinson, J., Turnbull, A., Gondo, P., Hadebe, B., Kayani, A., Masunda, B., Anderson, T., Hawcutt, D., Paterson, T., O'Malley, L., Rad, L., Rogers, N., Saunderson, P., Allison, K.S., Afolabi, D., Whitbread, J., Jones, D., Dore, R., Halkes, M., Schon, K., Mercer, P., Thornton, L., Dawson, J., Garrioch, S., Tolson, M., Aldridge, J., Kapoor, R., Loader, D., Castle, K., Humphreys, S., Stenhouse, A., Tampsett, R., Mackintosh, K., Ayers, A., Harrison, W., North, J., Allibone, S., Genetu, R., Kasipandian, V., Patel, A., Mac, A., Das, M., Murphy, A., Mahjoob, P., Nazari, R., Worsley, L., Fagan, Andrew, Bemand, T., Black, E., Dela Rosa, A., Howle, R., Jhanji, S., Swets, M., Baikady, R.R., Tatham, K.C., Thomas, B., Bell, D., Boyle, R., Douglas, K., Glass, L., Lee, E., Lennon, L., Rattray, A., Szoor-McElhinney, H., Taylor, A., Hughes, R.A., Thomas, H., Rees, A., Duskova, M., Phipps, J., Brooks, S., Edwards, M., Quaid, S., Watson, E., Taneski, F., Brayne, A., Fisher, E., Hunt, J., Jackson, P., Kaye, D., Love, N., Parkin, J., Tuckey, V., Van Koutrik, L., Carter, S., Turtle, L., Andrew, B., Findlay, L., Adams, Katie, Service, J., Cheyne, C., Saunderson, A., Moultrie, S., Odam, M., Hall, K., Wackett, T., Mapfunde, I., Willis, C., Lyon, A., Sri-Chandana, C., Scherewode, J., Stephenson, L., Marsh, S., Hardy, J., Houlden, Henry, Moncur, E., Ward, M., Tariq, Akash, Tucci, A., Hobrok, M., Loosley, R., McGuinness, H., Tench, H., Wolf-Roberts, R., Irvine, V., Shelley, B., Gorman, C., Weaver, J., Gupta, Arunava, Timlick, E., Brady, R., Milligan, B., Bellini, A., Bryant, J., Mayer, A., Pickard, A., Roe, N., Sowter, J., Wrobel, N., Howlett, A., Fidler, K., Tagliavini, E., Donnelly, K., Schultze, J.L., Riess, O., Franke, Andre, Rawlik, Konrad, Ellinghaus, D., Hoischen, A., Zechner, M., Schmidt, Axel, Ludwig, Kerstin U., Universitat Autònoma de Barcelona |
| Έτος έκδοσης: |
2024 |
| Συλλογή: |
Universitat Autònoma de Barcelona: Dipòsit Digital de Documents de la UAB |
| Θεματικοί όροι: |
SARS-CoV-2, Burden analysis, Host genetics, Immune deficiency, Infection, Innate immunity, Rare variants, Targeted sequencing, Toll-like receptor 7, Variant collapsing analysis |
| Περιγραφή: |
Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence were sequenced in 1,772 severe COVID-19 cases and 5,347 population-based controls from Spain/Italy. Rare deleterious TLR7 variants were present in 2.4% of young (<60 years) cases with no reported clinical risk factors (n = 378), compared to 0.24% of controls (odds ratio [OR] = 12.3, p = 1.27 × 10). Incorporation of the results of either functional assays or protein modeling led to a pronounced increase in effect size (OR = 46.5, p = 1.74 × 10). Association signals for the X-chromosomal gene TLR7 were also detected in the female-only subgroup, suggesting the existence of additional mechanisms beyond X-linked recessive inheritance in males. Additionally, supporting evidence was generated for a contribution to severe COVID-19 of the previously implicated genes IFNAR2, IFIH1, and TBK1. Our results refine the genetic contribution of rare TLR7 variants to severe COVID-19 and strengthen evidence for the etiological relevance of genes in the interferon signaling pathway. |
| Τύπος εγγράφου: |
article in journal/newspaper |
| Περιγραφή αρχείου: |
application/pdf |
| Γλώσσα: |
English |
| ISSN: |
26662477 |
| Relation: |
Human Genetics and Genomics Advances; Vol. 5 Núm. 4 (october 2024), p. 100323; https://ddd.uab.cat/record/311692; urn:10.1016/j.xhgg.2024.100323; urn:oai:ddd.uab.cat:311692; urn:scopus_id:85199449450; urn:articleid:26662477v5n4e100323; urn:pmid:38944683; urn:pmcid:PMC11320601; urn:oai:pubmedcentral.nih.gov:11320601 |
| Διαθεσιμότητα: |
https://ddd.uab.cat/record/311692 |
| Rights: |
open access ; Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades. ; https://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Αριθμός Καταχώρησης: |
edsbas.B575E25E |
| Βάση Δεδομένων: |
BASE |