Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
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全基因组关联研究确定了Sjögren的风险基因与免疫细胞和腺体细胞的功能相关。
DOI：
10.1038/s41467-022-30773-y
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发表时间：
2022-07-27
影响因子：
16.6
通讯作者：
Lessard, Christopher J.
中科院分区：
文献类型：
--
作者：
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 Auglaend;Jonsson, Malin, V;Kvarnstrom, Marika;Kelly, Jennifer A.;Li, He;Mandl, Thomas;Martin, Javier;Nocturne, Gaetane;Norheim, Katrine Braekke;Palm, Oyvind;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;Ronnblom, 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.
干燥病是一种复杂的自身免疫性疾病，有12个已确定的易感基因座。这项全基因组关联研究（GWAS）在欧洲血统的舍格伦病例中确定了10个新的全基因组显著（GWS）区域：CD 247，NAB 1，PTTG 1-MIR 146 A，PRDM 1-ATG 5，TNFAIP 3，XKR 6，MAPT-CRHR 1，RPTOR-CHMP 6-BAIAP 6，TYK 2，SYNGR 1。多基因风险评分产生可预测性（AUROC = 0.71）和相对风险12.08。生物信息学数据库的查询细化了关联，从95%可信集定义了GWS SNP的局部调控网络，并将涉及的基因列表扩展到>40。许多GWS SNP是免疫细胞中拓扑相关结构域内基因的eQTL和/或主要靶组织唾液腺中的eQTL。干燥综合征的遗传结构尚未完全了解。在这里，作者进行了全基因组关联研究，以确定10个新的遗传风险区域，涉及免疫和唾液腺功能的基因。
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. 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.
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影响因子：
30.8
作者：
Bulik-Sullivan, Brendan K.;Loh, Po-Ru;Finucane, Hilary K.;Ripke, Stephan;Yang, Jian;Patterson, Nick;Daly, Mark J.;Price, Alkes L.;Neale, Benjamin M.
通讯作者：
Neale, Benjamin M.
影响因子：
7
作者：
Boyle AP;Hong EL;Hariharan M;Cheng Y;Schaub MA;Kasowski M;Karczewski KJ;Park J;Hitz BC;Weng S;Cherry JM;Snyder M
通讯作者：
Snyder M
影响因子：
4.1
作者：
Ciccacci, C.;Latini, A.;Borgiani, P.
通讯作者：
Borgiani, P.
影响因子：
9.2
作者：
Choi, Shing Wan;O'Reilly, Paul F.
通讯作者：
O'Reilly, Paul F.
DOI：
10.1083/jcb.201909073
发表时间：
2020-11-02
期刊：
The Journal of cell biology
影响因子：
--
作者：
Allen EA;Amato C;Fortier TM;Velentzas P;Wood W;Baehrecke EH
通讯作者：
Baehrecke EH