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Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRH...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329286/ https://www.ncbi.nlm.nih.gov/pubmed/35896530 http://dx.doi.org/10.1038/s41467-022-30773-y |
| _version_ | 1784757886729060352 |
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| author | Khatri, Bhuwan Tessneer, Kandice L. Rasmussen, Astrid Aghakhanian, Farhang Reksten, Tove Ragna Adler, Adam Alevizos, Ilias Anaya, Juan-Manuel Aqrawi, Lara A. Baecklund, Eva Brun, Johan G. Bucher, Sara Magnusson Eloranta, Maija-Leena Engelke, Fiona Forsblad-d’Elia, Helena Glenn, Stuart B. Hammenfors, Daniel Imgenberg-Kreuz, Juliana Jensen, Janicke Liaaen Johnsen, Svein Joar Auglænd Jonsson, Malin V. Kvarnström, Marika Kelly, Jennifer A. Li, He Mandl, Thomas Martín, Javier Nocturne, Gaétane Norheim, Katrine Brække Palm, Øyvind Skarstein, Kathrine Stolarczyk, Anna M. Taylor, Kimberly E. Teruel, Maria Theander, Elke Venuturupalli, Swamy Wallace, Daniel J. Grundahl, Kiely M. Hefner, Kimberly S. Radfar, Lida Lewis, David M. Stone, Donald U. Kaufman, C. Erick Brennan, Michael T. Guthridge, Joel M. James, Judith A. Scofield, R. Hal Gaffney, Patrick M. Criswell, Lindsey A. Jonsson, Roland Eriksson, Per Bowman, Simon J. Omdal, Roald Rönnblom, Lars Warner, Blake Rischmueller, Maureen Witte, Torsten Farris, A. Darise Mariette, Xavier Alarcon-Riquelme, Marta E. Shiboski, Caroline H. Wahren-Herlenius, Marie Ng, Wan-Fai Sivils, Kathy L. Adrianto, Indra Nordmark, Gunnel Lessard, Christopher J. |
| author_facet | Khatri, Bhuwan Tessneer, Kandice L. Rasmussen, Astrid Aghakhanian, Farhang Reksten, Tove Ragna Adler, Adam Alevizos, Ilias Anaya, Juan-Manuel Aqrawi, Lara A. Baecklund, Eva Brun, Johan G. Bucher, Sara Magnusson Eloranta, Maija-Leena Engelke, Fiona Forsblad-d’Elia, Helena Glenn, Stuart B. Hammenfors, Daniel Imgenberg-Kreuz, Juliana Jensen, Janicke Liaaen Johnsen, Svein Joar Auglænd Jonsson, Malin V. Kvarnström, Marika Kelly, Jennifer A. Li, He Mandl, Thomas Martín, Javier Nocturne, Gaétane Norheim, Katrine Brække Palm, Øyvind Skarstein, Kathrine Stolarczyk, Anna M. Taylor, Kimberly E. Teruel, Maria Theander, Elke Venuturupalli, Swamy Wallace, Daniel J. Grundahl, Kiely M. Hefner, Kimberly S. Radfar, Lida Lewis, David M. Stone, Donald U. Kaufman, C. Erick Brennan, Michael T. Guthridge, Joel M. James, Judith A. Scofield, R. Hal Gaffney, Patrick M. Criswell, Lindsey A. Jonsson, Roland Eriksson, Per Bowman, Simon J. Omdal, Roald Rönnblom, Lars Warner, Blake Rischmueller, Maureen Witte, Torsten Farris, A. Darise Mariette, Xavier Alarcon-Riquelme, Marta E. Shiboski, Caroline H. Wahren-Herlenius, Marie Ng, Wan-Fai Sivils, Kathy L. Adrianto, Indra Nordmark, Gunnel Lessard, Christopher J. |
| author_sort | Khatri, Bhuwan |
| collection | PubMed |
| description | Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. |
| format | Online Article Text |
| id | pubmed-9329286 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-93292862022-07-29 Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells Khatri, Bhuwan Tessneer, Kandice L. Rasmussen, Astrid Aghakhanian, Farhang Reksten, Tove Ragna Adler, Adam Alevizos, Ilias Anaya, Juan-Manuel Aqrawi, Lara A. Baecklund, Eva Brun, Johan G. Bucher, Sara Magnusson Eloranta, Maija-Leena Engelke, Fiona Forsblad-d’Elia, Helena Glenn, Stuart B. Hammenfors, Daniel Imgenberg-Kreuz, Juliana Jensen, Janicke Liaaen Johnsen, Svein Joar Auglænd Jonsson, Malin V. Kvarnström, Marika Kelly, Jennifer A. Li, He Mandl, Thomas Martín, Javier Nocturne, Gaétane Norheim, Katrine Brække Palm, Øyvind Skarstein, Kathrine Stolarczyk, Anna M. Taylor, Kimberly E. Teruel, Maria Theander, Elke Venuturupalli, Swamy Wallace, Daniel J. Grundahl, Kiely M. Hefner, Kimberly S. Radfar, Lida Lewis, David M. Stone, Donald U. Kaufman, C. Erick Brennan, Michael T. Guthridge, Joel M. James, Judith A. Scofield, R. Hal Gaffney, Patrick M. Criswell, Lindsey A. Jonsson, Roland Eriksson, Per Bowman, Simon J. Omdal, Roald Rönnblom, Lars Warner, Blake Rischmueller, Maureen Witte, Torsten Farris, A. Darise Mariette, Xavier Alarcon-Riquelme, Marta E. Shiboski, Caroline H. Wahren-Herlenius, Marie Ng, Wan-Fai Sivils, Kathy L. Adrianto, Indra Nordmark, Gunnel Lessard, Christopher J. Nat Commun Article Sjögren’s disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren’s cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands. Nature Publishing Group UK 2022-07-27 /pmc/articles/PMC9329286/ /pubmed/35896530 http://dx.doi.org/10.1038/s41467-022-30773-y Text en © The Author(s) 2022, corrected publication 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Article Khatri, Bhuwan Tessneer, Kandice L. Rasmussen, Astrid Aghakhanian, Farhang Reksten, Tove Ragna Adler, Adam Alevizos, Ilias Anaya, Juan-Manuel Aqrawi, Lara A. Baecklund, Eva Brun, Johan G. Bucher, Sara Magnusson Eloranta, Maija-Leena Engelke, Fiona Forsblad-d’Elia, Helena Glenn, Stuart B. Hammenfors, Daniel Imgenberg-Kreuz, Juliana Jensen, Janicke Liaaen Johnsen, Svein Joar Auglænd Jonsson, Malin V. Kvarnström, Marika Kelly, Jennifer A. Li, He Mandl, Thomas Martín, Javier Nocturne, Gaétane Norheim, Katrine Brække Palm, Øyvind Skarstein, Kathrine Stolarczyk, Anna M. Taylor, Kimberly E. Teruel, Maria Theander, Elke Venuturupalli, Swamy Wallace, Daniel J. Grundahl, Kiely M. Hefner, Kimberly S. Radfar, Lida Lewis, David M. Stone, Donald U. Kaufman, C. Erick Brennan, Michael T. Guthridge, Joel M. James, Judith A. Scofield, R. Hal Gaffney, Patrick M. Criswell, Lindsey A. Jonsson, Roland Eriksson, Per Bowman, Simon J. Omdal, Roald Rönnblom, Lars Warner, Blake Rischmueller, Maureen Witte, Torsten Farris, A. Darise Mariette, Xavier Alarcon-Riquelme, Marta E. Shiboski, Caroline H. Wahren-Herlenius, Marie Ng, Wan-Fai Sivils, Kathy L. Adrianto, Indra Nordmark, Gunnel Lessard, Christopher J. Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells |
| title | Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells |
| title_full | Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells |
| title_fullStr | Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells |
| title_full_unstemmed | Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells |
| title_short | Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells |
| title_sort | genome-wide association study identifies sjögren’s risk loci with functional implications in immune and glandular cells |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9329286/ https://www.ncbi.nlm.nih.gov/pubmed/35896530 http://dx.doi.org/10.1038/s41467-022-30773-y |
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