Медицинская библиотека · Nature communications · 2022
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, PRECISESADS Clinical Consortium, Shiboski Caroline H, Sjögren’s International Collaborative Clinical Alliance (SICCA), Wahren-Herlenius Marie, Ng Wan-Fai, UK Primary Sjögren’s Syndrome Registry, Sivils Kathy L, Adrianto Indra, Nordmark Gunnel, Lessard Christopher J
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАResearch Support, N.I.H., IntramuralПеревод пока не подготовлен
Аннотация
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.
Для цитирования: 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, PRECISESADS Clinical Consortium, Shiboski Caroline H, Sjögren’s International Collaborative Clinical Alliance (SICCA), Wahren-Herlenius Marie, Ng Wan-Fai, UK Primary Sjögren’s Syndrome Registry, 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.. Nature communications. 2022. DOI: 10.1038/s41467-022-30773-y.
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