@misc{10481/76661, year = {2022}, month = {7}, url = {http://hdl.handle.net/10481/76661}, abstract = {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.}, organization = {United States Department of Health & Human Services National Institutes of Health (NIH) - USA HHSN268200782096C HHSN268201100011I HHSN268201200008I R01AR073855 R01AR065953 R01AR074310 P50AR060804 R01AR050782 R01DE018209 R33AR076803 R21AR079089}, organization = {NIDCR Sjogren's Syndrome Clinic NIDCR Division of Intramural Research at the National Institutes of Health funds Z01-DE000704}, organization = {German Research Foundation (DFG) EXC 2155 390874280}, organization = {Research Council of Norway 240421 316120}, organization = {Western Norway Regional Health Authority (Helse Vest) 911807 912043}, organization = {Swedish Research Council for Medicine and Health Swedish Rheumatism Association King Gustav V's 80-year Foundation Swedish Society of Medicine Swedish Cancer Society}, organization = {Sjogren's Syndrome Foundation Phileona Foundation Stockholm County Council Swedish Research Council}, organization = {European Commission 2017-000641}, organization = {Assistance Publique-Hopitaux de Paris (Ministry of Health) P060228}, organization = {French society of Rheumatology}, organization = {United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute on Aging (NIA) RC2 AG036495 RC4 AG039029 United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Institute of Dental & Craniofacial Research (NIDCR) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH National Eye Institute (NEI) United States Department of Health & Human Services National Institutes of Health (NIH) - USA NIH Office of Research on Women's Health (ORWH) N01-DE-32636 NIDCR through CIDR's NIH contract}, publisher = {Nature}, title = {Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells}, doi = {10.1038/s41467-022-30773-y}, author = {Khatri, Bhuwan and Martín Ibáñez, Javier and Teruel, María and Alarcón Riquelme, Marta Eugenia and PRECISESADS Clinical Consortium and Sjogrens Int Collaborative Clinica and UK Primary Sjogrens Syndrome Regis}, }