{"entity": "researcher", "timestamp": "2026-08-19T20:20:42.636Z", "family": "Khatri", "given": "Bhuwan", "initials": "B", "orcid": "0000-0001-5456-2963", "affiliations": ["Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/babac1d62a5c4e929151c502d43362aa.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/babac1d62a5c4e929151c502d43362aa"}}, "publications": [{"entity": "publication", "iuid": "72892165f88842119e37a0f4bdf0fbd2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/72892165f88842119e37a0f4bdf0fbd2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/72892165f88842119e37a0f4bdf0fbd2"}}, "title": "Genome-wide association study identifies Sj\u00f6gren's risk loci with functional implications in immune and glandular cells.", "authors": [{"family": "Khatri", "given": "Bhuwan", "initials": "B", "orcid": "0000-0001-5456-2963", "researcher": {"href": "https://publications.scilifelab.se/researcher/babac1d62a5c4e929151c502d43362aa.json"}}, {"family": "Tessneer", "given": "Kandice L", "initials": "KL"}, {"family": "Rasmussen", "given": "Astrid", "initials": "A"}, {"family": "Aghakhanian", "given": "Farhang", "initials": "F"}, {"family": "Reksten", "given": "Tove Ragna", "initials": "TR", "orcid": "0000-0001-8704-4943", "researcher": {"href": "https://publications.scilifelab.se/researcher/2097777ee53f41339a0e5b407aac739b.json"}}, {"family": "Adler", "given": "Adam", "initials": "A"}, {"family": "Alevizos", "given": "Ilias", "initials": "I"}, {"family": "Anaya", "given": "Juan-Manuel", "initials": "JM", "orcid": "0000-0002-6444-1249", "researcher": {"href": "https://publications.scilifelab.se/researcher/00723e72bf0e4333a503614c07dc718e.json"}}, {"family": "Aqrawi", "given": "Lara A", "initials": "LA"}, {"family": "Baecklund", "given": "Eva", "initials": "E"}, 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"Lewis", "given": "David M", "initials": "DM"}, {"family": "Stone", "given": "Donald U", "initials": "DU"}, {"family": "Kaufman", "given": "C Erick", "initials": "CE"}, {"family": "Brennan", "given": "Michael T", "initials": "MT"}, {"family": "Guthridge", "given": "Joel M", "initials": "JM"}, {"family": "James", "given": "Judith A", "initials": "JA", "orcid": "0000-0002-9574-7355", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ac95ea8fa4f43939f8e4a94bc422ffd.json"}}, {"family": "Scofield", "given": "R Hal", "initials": "RH"}, {"family": "Gaffney", "given": "Patrick M", "initials": "PM"}, {"family": "Criswell", "given": "Lindsey A", "initials": "LA", "orcid": "0000-0002-0761-7543", "researcher": {"href": "https://publications.scilifelab.se/researcher/e36beb11c7a7495290765a85d81928fd.json"}}, {"family": "Jonsson", "given": "Roland", "initials": "R"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Bowman", "given": "Simon J", "initials": "SJ"}, {"family": "Omdal", "given": "Roald", "initials": "R"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications.scilifelab.se/researcher/053ed3b657124a1bab3a78dc685556e6.json"}}, {"family": "Warner", "given": "Blake", "initials": "B", "orcid": "0000-0002-4961-018X", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a00e0cef8794b4e8d13cb963539e1fe.json"}}, {"family": "Rischmueller", "given": "Maureen", "initials": "M"}, {"family": "Witte", "given": "Torsten", "initials": "T"}, {"family": "Farris", "given": "A Darise", "initials": "AD"}, {"family": "Mariette", "given": "Xavier", "initials": "X", "orcid": "0000-0002-4244-5417", "researcher": {"href": "https://publications.scilifelab.se/researcher/13855fe7b68b4235a48a8dda9a0d5fd6.json"}}, {"family": "Alarcon-Riquelme", "given": "Marta E", "initials": "ME", "orcid": "0000-0002-7632-4154", "researcher": {"href": "https://publications.scilifelab.se/researcher/61acb7fc644c42d9ba02804f58b1eeee.json"}}, {"family": "PRECISESADS Clinical Consortium", "given": "", "initials": ""}, {"family": "Shiboski", "given": "Caroline H", "initials": "CH"}, {"family": "Sj\u00f6gren\u2019s International Collaborative Clinical Alliance (SICCA)", "given": "", "initials": ""}, {"family": "Wahren-Herlenius", "given": "Marie", "initials": "M", "orcid": "0000-0002-0915-7245", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8451e7f5e6e4e4da0bace3dfafaeb38.json"}}, {"family": "Ng", "given": "Wan-Fai", "initials": "WF"}, {"family": "UK Primary Sj\u00f6gren\u2019s Syndrome Registry", "given": "", "initials": ""}, {"family": "Sivils", "given": "Kathy L", "initials": "KL"}, {"family": "Adrianto", "given": "Indra", "initials": "I", "orcid": "0000-0002-9973-3057", "researcher": {"href": "https://publications.scilifelab.se/researcher/4d109293e1044471b8cefff69b1b3f67.json"}}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications.scilifelab.se/researcher/188fda53498740dbb007441cc94bb1ad.json"}}, {"family": "Lessard", "given": "Christopher J", "initials": "CJ", "orcid": "0000-0003-2440-3843", "researcher": {"href": "https://publications.scilifelab.se/researcher/c476c83630ad4fe6acbd1930cfedffa8.json"}}], "type": "journal article", "published": "2022-07-27", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "13", "issue": "1", "pages": "4287", "issn-l": "2041-1723"}, "abstract": "Sj\u00f6gren'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 Sj\u00f6gren'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.", "doi": "10.1038/s41467-022-30773-y", "pmid": "35896530", "labels": {"NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-022-30773-y"}, {"db": "pmc", "key": "PMC9329286"}], "notes": [], "created": "2022-08-16T13:29:32.951Z", "modified": "2022-08-16T13:29:33.688Z"}]}