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A catalog of associations between rare coding variants and COVID-19 outcomes
Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease-19 (COVID-19), a respiratory illness that can result in hospitalization or death. We investigated associations between rare genetic variants and seven COVID-19 outcomes in 543,213 individuals, including 8,248 wit...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924298/ https://www.ncbi.nlm.nih.gov/pubmed/33655273 http://dx.doi.org/10.1101/2020.10.28.20221804 |
| _version_ | 1783659059533053952 |
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| author | Kosmicki, J. A. Horowitz, J. E. Banerjee, N. Lanche, R. Marcketta, A. Maxwell, E. Bai, X. Sun, D. Backman, J. D. Sharma, D. Kang, H. M. O’Dushlaine, C. Yadav, A. Mansfield, A. J. Li, A. H. Watanabe, K. Gurski, L. McCarthy, S. E. Locke, A. E. Khalid, S. O’Keeffe, S. Mbatchou, J. Chazara, O. Huang, Y. Kvikstad, E. O’Neill, A. Nioi, P. Parker, M. M. Petrovski, S. Runz, H. Szustakowski, J. D. Wang, Q. Wong, E. Cordova-Palomera, A. Smith, E. N. Szalma, S. Zheng, X. Esmaeeli, S. Davis, J. W. Lai, Y-P. Chen, X. Justice, A. E. Leader, J. B. Mirshahi, T. Carey, D. J. Verma, A. Sirugo, G. Ritchie, M. D. Rader, D. J. Povysil, G. Goldstein, D. B. Kiryluk, K. Pairo-Castineira, E. Rawlik, K. Pasko, D. Walker, S. Meynert, A. Kousathanas, A. Moutsianas, L. Tenesa, A. Caulfield, M. Scott, R. Wilson, J. F. Baillie, J. K. Butler-Laporte, G. Nakanishi, T. Lathrop, M. Richards, J.B. Jones, M. Balasubramanian, S. Salerno, W. Shuldiner, A. R. Marchini, J. Overton, J. D. Habegger, L. Cantor, M. N. Reid, J. G. Baras, A. Abecasis, G. R. Ferreira, M. A. |
| author_facet | Kosmicki, J. A. Horowitz, J. E. Banerjee, N. Lanche, R. Marcketta, A. Maxwell, E. Bai, X. Sun, D. Backman, J. D. Sharma, D. Kang, H. M. O’Dushlaine, C. Yadav, A. Mansfield, A. J. Li, A. H. Watanabe, K. Gurski, L. McCarthy, S. E. Locke, A. E. Khalid, S. O’Keeffe, S. Mbatchou, J. Chazara, O. Huang, Y. Kvikstad, E. O’Neill, A. Nioi, P. Parker, M. M. Petrovski, S. Runz, H. Szustakowski, J. D. Wang, Q. Wong, E. Cordova-Palomera, A. Smith, E. N. Szalma, S. Zheng, X. Esmaeeli, S. Davis, J. W. Lai, Y-P. Chen, X. Justice, A. E. Leader, J. B. Mirshahi, T. Carey, D. J. Verma, A. Sirugo, G. Ritchie, M. D. Rader, D. J. Povysil, G. Goldstein, D. B. Kiryluk, K. Pairo-Castineira, E. Rawlik, K. Pasko, D. Walker, S. Meynert, A. Kousathanas, A. Moutsianas, L. Tenesa, A. Caulfield, M. Scott, R. Wilson, J. F. Baillie, J. K. Butler-Laporte, G. Nakanishi, T. Lathrop, M. Richards, J.B. Jones, M. Balasubramanian, S. Salerno, W. Shuldiner, A. R. Marchini, J. Overton, J. D. Habegger, L. Cantor, M. N. Reid, J. G. Baras, A. Abecasis, G. R. Ferreira, M. A. |
| author_sort | Kosmicki, J. A. |
| collection | PubMed |
| description | Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease-19 (COVID-19), a respiratory illness that can result in hospitalization or death. We investigated associations between rare genetic variants and seven COVID-19 outcomes in 543,213 individuals, including 8,248 with COVID-19. After accounting for multiple testing, we did not identify any clear associations with rare variants either exome-wide or when specifically focusing on (i) 14 interferon pathway genes in which rare deleterious variants have been reported in severe COVID-19 patients; (ii) 167 genes located in COVID-19 GWAS risk loci; or (iii) 32 additional genes of immunologic relevance and/or therapeutic potential. Our analyses indicate there are no significant associations with rare protein-coding variants with detectable effect sizes at our current sample sizes. Analyses will be updated as additional data become available, with results publicly browsable at https://rgc-covid19.regeneron.com. |
| format | Online Article Text |
| id | pubmed-7924298 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Cold Spring Harbor Laboratory |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-79242982021-03-03 A catalog of associations between rare coding variants and COVID-19 outcomes Kosmicki, J. A. Horowitz, J. E. Banerjee, N. Lanche, R. Marcketta, A. Maxwell, E. Bai, X. Sun, D. Backman, J. D. Sharma, D. Kang, H. M. O’Dushlaine, C. Yadav, A. Mansfield, A. J. Li, A. H. Watanabe, K. Gurski, L. McCarthy, S. E. Locke, A. E. Khalid, S. O’Keeffe, S. Mbatchou, J. Chazara, O. Huang, Y. Kvikstad, E. O’Neill, A. Nioi, P. Parker, M. M. Petrovski, S. Runz, H. Szustakowski, J. D. Wang, Q. Wong, E. Cordova-Palomera, A. Smith, E. N. Szalma, S. Zheng, X. Esmaeeli, S. Davis, J. W. Lai, Y-P. Chen, X. Justice, A. E. Leader, J. B. Mirshahi, T. Carey, D. J. Verma, A. Sirugo, G. Ritchie, M. D. Rader, D. J. Povysil, G. Goldstein, D. B. Kiryluk, K. Pairo-Castineira, E. Rawlik, K. Pasko, D. Walker, S. Meynert, A. Kousathanas, A. Moutsianas, L. Tenesa, A. Caulfield, M. Scott, R. Wilson, J. F. Baillie, J. K. Butler-Laporte, G. Nakanishi, T. Lathrop, M. Richards, J.B. Jones, M. Balasubramanian, S. Salerno, W. Shuldiner, A. R. Marchini, J. Overton, J. D. Habegger, L. Cantor, M. N. Reid, J. G. Baras, A. Abecasis, G. R. Ferreira, M. A. medRxiv Article Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes coronavirus disease-19 (COVID-19), a respiratory illness that can result in hospitalization or death. We investigated associations between rare genetic variants and seven COVID-19 outcomes in 543,213 individuals, including 8,248 with COVID-19. After accounting for multiple testing, we did not identify any clear associations with rare variants either exome-wide or when specifically focusing on (i) 14 interferon pathway genes in which rare deleterious variants have been reported in severe COVID-19 patients; (ii) 167 genes located in COVID-19 GWAS risk loci; or (iii) 32 additional genes of immunologic relevance and/or therapeutic potential. Our analyses indicate there are no significant associations with rare protein-coding variants with detectable effect sizes at our current sample sizes. Analyses will be updated as additional data become available, with results publicly browsable at https://rgc-covid19.regeneron.com. Cold Spring Harbor Laboratory 2021-02-27 /pmc/articles/PMC7924298/ /pubmed/33655273 http://dx.doi.org/10.1101/2020.10.28.20221804 Text en https://creativecommons.org/licenses/by-nd/4.0/This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nd/4.0/) , which allows reusers to copy and distribute the material in any medium or format in unadapted form only, and only so long as attribution is given to the creator. The license allows for commercial use. |
| spellingShingle | Article Kosmicki, J. A. Horowitz, J. E. Banerjee, N. Lanche, R. Marcketta, A. Maxwell, E. Bai, X. Sun, D. Backman, J. D. Sharma, D. Kang, H. M. O’Dushlaine, C. Yadav, A. Mansfield, A. J. Li, A. H. Watanabe, K. Gurski, L. McCarthy, S. E. Locke, A. E. Khalid, S. O’Keeffe, S. Mbatchou, J. Chazara, O. Huang, Y. Kvikstad, E. O’Neill, A. Nioi, P. Parker, M. M. Petrovski, S. Runz, H. Szustakowski, J. D. Wang, Q. Wong, E. Cordova-Palomera, A. Smith, E. N. Szalma, S. Zheng, X. Esmaeeli, S. Davis, J. W. Lai, Y-P. Chen, X. Justice, A. E. Leader, J. B. Mirshahi, T. Carey, D. J. Verma, A. Sirugo, G. Ritchie, M. D. Rader, D. J. Povysil, G. Goldstein, D. B. Kiryluk, K. Pairo-Castineira, E. Rawlik, K. Pasko, D. Walker, S. Meynert, A. Kousathanas, A. Moutsianas, L. Tenesa, A. Caulfield, M. Scott, R. Wilson, J. F. Baillie, J. K. Butler-Laporte, G. Nakanishi, T. Lathrop, M. Richards, J.B. Jones, M. Balasubramanian, S. Salerno, W. Shuldiner, A. R. Marchini, J. Overton, J. D. Habegger, L. Cantor, M. N. Reid, J. G. Baras, A. Abecasis, G. R. Ferreira, M. A. A catalog of associations between rare coding variants and COVID-19 outcomes |
| title | A catalog of associations between rare coding variants and COVID-19 outcomes |
| title_full | A catalog of associations between rare coding variants and COVID-19 outcomes |
| title_fullStr | A catalog of associations between rare coding variants and COVID-19 outcomes |
| title_full_unstemmed | A catalog of associations between rare coding variants and COVID-19 outcomes |
| title_short | A catalog of associations between rare coding variants and COVID-19 outcomes |
| title_sort | catalog of associations between rare coding variants and covid-19 outcomes |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7924298/ https://www.ncbi.nlm.nih.gov/pubmed/33655273 http://dx.doi.org/10.1101/2020.10.28.20221804 |
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