Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells

Autor: Bhuwan Khatri, Kandice L. Tessneer, Astrid Rasmussen, Farhang Aghakhanian, Tove Ragna Reksten, Adam Adler, Ilias Alevizos, Juan-Manuel Anaya, Lara A. Aqrawi, Eva Baecklund, Johan G. Brun, Sara Magnusson Bucher, Maija-Leena Eloranta, Fiona Engelke, Helena Forsblad-d’Elia, Stuart B. Glenn, Daniel Hammenfors, Juliana Imgenberg-Kreuz, Janicke Liaaen Jensen, Svein Joar Auglænd Johnsen, Malin V. Jonsson, Marika Kvarnström, Jennifer A. Kelly, He Li, Thomas Mandl, Javier Martín, Gaétane Nocturne, Katrine Brække Norheim, Øyvind Palm, Kathrine Skarstein, Anna M. Stolarczyk, Kimberly E. Taylor, Maria Teruel, Elke Theander, Swamy Venuturupalli, Daniel J. Wallace, Kiely M. Grundahl, Kimberly S. Hefner, Lida Radfar, David M. Lewis, Donald U. Stone, C. Erick Kaufman, Michael T. Brennan, Joel M. Guthridge, Judith A. James, R. Hal Scofield, Patrick M. Gaffney, Lindsey A. Criswell, Roland Jonsson, Per Eriksson, Simon J. Bowman, Roald Omdal, Lars Rönnblom, Blake Warner, Maureen Rischmueller, Torsten Witte, A. Darise Farris, Xavier Mariette, Marta E. Alarcon-Riquelme, PRECISESADS Clinical Consortium, Caroline H. Shiboski, Sjögren’s International Collaborative Clinical Alliance (SICCA), Marie Wahren-Herlenius, Wan-Fai Ng, UK Primary Sjögren’s Syndrome Registry, Kathy L. Sivils, Indra Adrianto, Gunnel Nordmark, Christopher J. Lessard

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

The genetic architecture underlying Sjögren’s syndrome is not fully understood. Here, the authors perform a genome-wide association study to identify 10 new genetic risk regions, implicating genes involved in immune and salivary gland function.

Externí odkaz: https://doaj.org/article/ee17c34d06624822ae2f0ffc7f740171

Addressing the clinical unmet needs in primary Sjögren’s Syndrome through the sharing, harmonization and federated analysis of 21 European cohorts

Autor: Vasileios C. Pezoulas, Andreas Goules, Fanis Kalatzis, Luke Chatzis, Konstantina D. Kourou, Aliki Venetsanopoulou, Themis P. Exarchos, Saviana Gandolfo, Konstantinos Votis, Evi Zampeli, Jan Burmeister, Thorsten May, Manuel Marcelino Pérez, Iryna Lishchuk, Thymios Chondrogiannis, Vassiliki Andronikou, Theodora Varvarigou, Nenad Filipovic, Manolis Tsiknakis, Chiara Baldini, Michele Bombardieri, Hendrika Bootsma, Simon J. Bowman, Muhammad Shahnawaz Soyfoo, Dorian Parisis, Christine Delporte, Valérie Devauchelle-Pensec, Jacques-Olivier Pers, Thomas Dörner, Elena Bartoloni, Roberto Gerli, Roberto Giacomelli, Roland Jonsson, Wan-Fai Ng, Roberta Priori, Manuel Ramos-Casals, Kathy Sivils, Fotini Skopouli, Witte Torsten, Joel A. G. van Roon, Mariette Xavier, Salvatore De Vita, Athanasios G. Tzioufas, Dimitrios I. Fotiadis

Publikováno v: Computational and Structural Biotechnology Journal, Vol 20, Iss , Pp 471-484 (2022)

For many decades, the clinical unmet needs of primary Sjögren’s Syndrome (pSS) have been left unresolved due to the rareness of the disease and the complexity of the underlying pathogenic mechanisms, including the pSS-associated lymphomagenesis pr

Externí odkaz: https://doaj.org/article/b16981d4192d4498a244cd7bedcee6c8

Comparison of ESSDAI and ClinESSDAI in potential optimisation of trial outcomes in primary Sjögren’s syndrome: examination of data from the UK Primary Sjögren’s Syndrome Registry

Autor: Alexandre Dumusc, Wan-Fai Ng, Katherine James, Bridget Griffiths, Elizabeth Price, Colin T. Pease, Paul Emery, Peter Lanyon, Adrian Jones, Michele Bombardieri, Nurhan Sutcliffe, Costantino Pitzalis, Monica Gupta, John McLaren, Annie Cooper, Ian Giles, David Isenberg, Vadivelu Saravanan, David Coady, Bhaskar Dasgupta, Neil McHugh, Steven Young-Min, Robert J. Moots, Nagui Gendi, Mohammed Akil, Francesca Barone, Benjamin A. Fisher, Saaeha Rauz, Andrea Richards, Simon J. Bowman, Swiss Medical Weekly

Publikováno v: Swiss Medical Weekly, Vol 148, Iss 0506 (2018)

OBJECTIVES To assess the use of the Clinical EULAR Sjögren’s Syndrome Disease Activity Index (ClinESSDAI), a version of the ESSDAI without the biological domain, for assessing potential eligibility and outcomes for clinical trials in patients wit

Externí odkaz: https://doaj.org/article/af11e023dbb742e2835f1b6a0799460b

Sjögren's syndrome

Autor: Alexandre Dumusc, Vijay Rao, Simon J. Bowman

Publikováno v: Medicine. 50:55-59

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5821ac1f421c140e2aa532c055bb006
https://doi.org/10.1016/j.mpmed.2021.10.009

History of tonsillectomy is associated with glandular inflammation in Sjögren's disease

Autor: Florian Kollert, Valentina Pucino, Saba Nayar, Jason Turner, Saaeha Rauz, Andrea Richards, Jon Higham, Ana Poveda-Gallego, Rachel M Brown, Timothy Bates, Simon J Bowman, Francesca Barone, Benjamin A Fisher

Publikováno v: Kollert, Florian; Pucino, Valentina; Nayar, Saba; Turner, Jason; Rauz, Saaeha; Richards, Andrea; Higham, Jon; Poveda-Gallego, Ana; Brown, Rachel M; Bates, Timothy; Bowman, Simon J; Barone, Francesca; Fisher, Benjamin A (2022). History of tonsillectomy is associated with glandular inflammation in Sjögren`s disease. Rheumatology, 61(7), e168-e170. Oxford University Press 10.1093/rheumatology/keac096

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::823458f3fb25ff16a863cd740db482d2
https://boris.unibe.ch/166083/1/keac096.pdf