{"entity": "researcher", "timestamp": "2026-09-23T15:20:07.794Z", "family": "Imgenberg-Kreuz", "given": "Juliana", "initials": "J", "orcid": "0000-0002-7230-8990", "affiliations": ["Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/b94ba6e41ec348138bba169099da410d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/b94ba6e41ec348138bba169099da410d"}}, "publications": [{"entity": "publication", "iuid": "e5df78fc82614b54a5b51d9384a17abe", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e5df78fc82614b54a5b51d9384a17abe.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e5df78fc82614b54a5b51d9384a17abe"}}, "title": "A high polygenic risk score is associated with SSA/SSB antibody positivity and early onset in primary Sj\u00f6gren's disease.", "authors": [{"family": "Fugmann", "given": "Cecilia", "initials": "C", "orcid": "0009-0005-6078-8826", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/040e76f2cde44590b1c3f9318f27ab18.json"}}, {"family": "Reid", "given": "Sarah", "initials": "S"}, {"family": "Pucholt", "given": "Pascal", "initials": "P", "orcid": "0000-0003-3342-1373", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b8d564c4e36f451f9b78f563c9e8fa07.json"}}, {"family": "Kvarnstr\u00f6m", "given": "Marika", "initials": "M"}, {"family": "Bj\u00f6rk", "given": "Albin", "initials": "A"}, {"family": "Mofors", "given": "Johannes", "initials": "J", "orcid": "0000-0003-1873-7169", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6bae04084cd840959d659f12c5197462.json"}}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9fcc24622ec440bac6996072cceea0e.json"}}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Olsson", "given": "Peter", "initials": "P"}, {"family": "Mandl", "given": "Thomas", "initials": "T", "orcid": "0000-0002-7143-7088", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a3ae58ec5cc8471f91b1f5a23295df29.json"}}, {"family": "Forsblad-d'Elia", "given": "Helena", "initials": "H", "orcid": "0000-0001-7871-5303", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6a995d1584ab4f0aaee7d12b4ba48006.json"}}, {"family": "Magnusson Bucher", "given": "Sara", "initials": "S"}, {"family": "Johnsen", "given": "Svein Joar", "initials": "SJ", "orcid": "0000-0002-1591-9250", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c7aa8dc8c5624dc49c03ee71cb9f1960.json"}}, {"family": "Norheim", "given": "Katrine Br\u00e6kke", "initials": "KB"}, {"family": "Appel", "given": "Silke", "initials": "S", "orcid": "0000-0002-2199-2315", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22291aef0c15471fadc39931c5c02094.json"}}, {"family": "Hammenfors", "given": "Daniel", "initials": "D"}, {"family": "Jensen", "given": "Janicke Liaaen", "initials": "JL", "orcid": "0000-0003-4276-9611", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/da5f017d5ba2439d892c8bede353a700.json"}}, {"family": "Palm", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Omdal", "given": "Roald", "initials": "R"}, {"family": "Jonsson", "given": "Roland", "initials": "R", "orcid": "0000-0002-9588-0260", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/03b77dc6eefa489c871580fc27089af6.json"}}, {"family": "Baecklund", "given": "Eva", "initials": "E", "orcid": "0000-0001-5033-0188", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7317920dadc545a6bacdcb61f07e2cdb.json"}}, {"family": "Wahren-Herlenius", "given": "Marie", "initials": "M", "orcid": "0000-0002-0915-7245", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0db5190dbe894a5e9cd961e66ba5c75d.json"}}, {"family": "Leonard", "given": "Dag", "initials": "D", "orcid": "0000-0002-6275-7282", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/444ae7021f634df8b55e61c85c81b28b.json"}}, {"family": "Imgenberg-Kreuz", "given": "Juliana", "initials": "J", "orcid": "0000-0002-7230-8990", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b94ba6e41ec348138bba169099da410d.json"}}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f618934952594d76a747bcbe2c27bbf2.json"}}], "type": "journal article", "published": "2025-07-01", "journal": {"title": "Rheumatology (Oxford)", "issn": "1462-0332", "volume": "64", "issue": "7", "pages": "4341-4346", "issn-l": "1462-0324"}, "abstract": "To calculate a polygenic risk score (PRS) based on single nucleotide variants (SNVs) previously associated with primary Sj\u00f6gren's disease (SjD) with genome-wide significance and determine the genetic risk for SjD stratified by antibodies, sex and age at diagnosis.\n\nPatients with SjD (n = 1065) were genotyped using Illumina OmniExpressExome chip. Control genotype data were available (n = 7742). Two PRSs were constructed, one including HLA gene variants (n = 21 SNVs), and one without HLA (n = 18 SNVs). High PRS quartile (Q4) individuals were compared with low PRS (Q1-3).\n\nA high PRS was associated with SSA antibody-positive SjD (OR 9.16, 95% CI 7.75-10.85, P = 3.7 \u00d7 10-146), and strengthened in SjD positive for both SSA/SSB antibodies (OR 13.67, 95% CI 10.88-17.32, P = 4.6 \u00d7 10-108). High PRS classified SSA/SSB antibody-positive SjD with very good accuracy (AUC 0.86). PRS without HLA showed a weaker association with SSA/SSB positive SjD (OR 2.09, 95% CI 1.71-2.55, P = 6.4 \u00d7 10-13). Antibody negative SjD displayed a PRS similar to controls. Patients in the high PRS quartile were significantly younger at diagnosis, 48.9 \u00b1 14.9 vs 53.4 \u00b1 13.4 years in the low PRS quartiles (Q1-3), P = 2.2 \u00d7 10-6, and presented higher frequencies of ANA, SSA and SSA/SSB antibodies, P < 1 \u00d7 10-5.\n\nA high PRS is associated with SSA/SSB antibody positivity and early disease onset, both largely attributed to the weight of the HLA alleles. Integration of PRS with other biomarkers applied to clinical phenotypes could be a useful tool for disease risk stratification and treatment decisions.", "doi": "10.1093/rheumatology/keae693", "pmid": "39693120", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12212914"}, {"db": "pii", "key": "7927842"}], "notes": [], "created": "2026-09-23T12:27:27.339Z", "modified": "2026-09-23T12:27:27.606Z"}, {"entity": "publication", "iuid": "57f5e17ddc0945dd88f6328c1509384d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/57f5e17ddc0945dd88f6328c1509384d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/57f5e17ddc0945dd88f6328c1509384d"}}, "title": "Multimodal Single-Cell Sequencing of B Cells in Primary Sj\u00f6gren's Syndrome.", "authors": [{"family": "Arvidsson", "given": "Gustav", "initials": "G", "orcid": "0000-0001-7396-1820", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eb8f8c1698ff4519ab5d1f91456afeab.json"}}, {"family": "Czarnewski", "given": "Paulo", "initials": "P", "orcid": "0000-0001-8150-4021", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/501677a1262c438aa4077b205bb39a72.json"}}, {"family": "Johansson", "given": "Alina", "initials": "A"}, {"family": "Raine", "given": "Amanda", "initials": "A"}, {"family": "Imgenberg-Kreuz", "given": "Juliana", "initials": "J", "orcid": "0000-0002-7230-8990", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b94ba6e41ec348138bba169099da410d.json"}}, {"family": "Nordlund", "given": "Jessica", "initials": "J", "orcid": "0000-0001-8699-9959", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/27ee07e408e24eefa23105dcc6aa252b.json"}}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f618934952594d76a747bcbe2c27bbf2.json"}}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c07385b28a9947dfb76686f48f7a28ac.json"}}], "type": "journal article", "published": "2024-02-00", "journal": {"title": "Arthritis & rheumatology (Hoboken, N.J.)", "issn": "2326-5205", "volume": "76", "issue": "2", "pages": "255-267", "issn-l": "2326-5191"}, "abstract": "B cells are important in the pathogenesis of primary Sj\u00f6gren's syndrome (pSS). Patients positive for Sj\u00f6gren's syndrome antigen A/Sj\u00f6gren syndrome antigen B (SSA/SSB) autoantibodies are more prone to systemic disease manifestations and adverse outcomes. We aimed to determine the role of B cell composition, gene expression, and B cell receptor usage in pSS subgroups stratified for SSA/SSB antibodies.\n\nOver 230,000 B cells were isolated from peripheral blood of patients with pSS (n = 6 SSA-, n = 8 SSA+ single positive and n = 10 SSA/SSB+ double positive) and four healthy controls and processed for single-cell RNA sequencing (scRNA-seq) and single-cell variable, diversity, and joining (VDJ) gene sequencing (scVDJ-seq).\n\nWe show that SSA/SSB+ patients present the highest and lowest proportion of na\u00efve and memory B cells, respectively, and the highest up-regulation of interferon-induced genes across all B cell subtypes. Differential usage of IGHV showed that IGHV1-69 and IGHV4-30-4 were more often used in all pSS subgroups compared with controls. Memory B cells from SSA/SSB+ patients displayed a higher proportion of cells with unmutated VDJ transcripts compared with other pSS patient groups and controls, indicating altered somatic hypermutation processes. Comparison with previous studies revealed heterogeneous clonotype pools, with little overlap in CDR3 sequences. Joint analysis using scRNA-seq and scVDJ-seq data allowed unsupervised stratification of patients with pSS and identified novel parameters that correlated to disease manifestations and antibody status.\n\nWe describe heterogeneity and molecular characteristics in B cells from patients with pSS, providing clues to intrinsic differences in B cells that affect the phenotype and outcome and allowing stratification of patients with pSS at improved resolution.", "doi": "10.1002/art.42683", "pmid": "37610265", "labels": [], "xrefs": [], "notes": [], "created": "2026-09-23T08:45:29.006Z", "modified": "2026-09-23T08:45:29.163Z"}, {"entity": "publication", "iuid": "97fbf62395fa47c09afd46af530e808e", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/97fbf62395fa47c09afd46af530e808e.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/97fbf62395fa47c09afd46af530e808e"}}, "title": "Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling.", "authors": [{"family": "Lundtoft", "given": "Christian", "initials": "C", "orcid": "0000-0001-5872-4253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f22eef009e944f069fe779e7f3cb2eff.json"}}, {"family": "Pucholt", "given": "Pascal", "initials": "P", "orcid": "0000-0003-3342-1373", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b8d564c4e36f451f9b78f563c9e8fa07.json"}}, {"family": "Imgenberg-Kreuz", "given": "Juliana", "initials": "J", "orcid": "0000-0002-7230-8990", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b94ba6e41ec348138bba169099da410d.json"}}, {"family": "Carlsson-Alml\u00f6f", "given": "Jonas", "initials": "J", "orcid": "0000-0002-1211-9821", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/073ba40c0eba46f0a37f9d47b23d6b18.json"}}, {"family": "Eloranta", "given": "Maija-Leena", "initials": "ML", "orcid": "0000-0002-8454-1351", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e73543dcfc754a96a6102a948e961a43.json"}}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f618934952594d76a747bcbe2c27bbf2.json"}}, {"family": "Sandling", "given": "Johanna K", "initials": "JK", "orcid": "0000-0003-1382-2321", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c5bbdb0cf40c48198ea04ede2fb33377.json"}}, {"family": "Kockum", "given": "Ingrid", "initials": "I", "orcid": "0000-0002-0867-4726", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/044ff0f987a642c7aa2aef33fe1d7ecd.json"}}, {"family": "Olsson", "given": "Tomas", "initials": "T", "orcid": "0000-0002-2938-1877", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2003b9ba415e422fa27b0c7fdce9497f.json"}}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f7ec7a7befd44cc988091ba0858d3c0.json"}}, {"family": "Hagberg", "given": "Niklas", "initials": "N", "orcid": "0000-0003-2064-2716", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/be3f2835d0c04a85af2d67c158b17b06.json"}}], "type": "journal article", "published": "2020-10-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "16", "issue": "10", "pages": "e1009199", "issn-l": "1553-7390"}, "abstract": "Interferons (IFNs) are cytokines that are central to the host defence against viruses and other microorganisms. If not properly regulated, IFNs may contribute to the pathogenesis of inflammatory autoimmune, or infectious diseases. To identify genetic polymorphisms regulating the IFN system we performed an unbiased genome-wide protein-quantitative trait loci (pQTL) mapping of cell-type specific type I and type II IFN receptor levels and their responses in immune cells from 303 healthy individuals. Seven genome-wide significant (p < 5.0E-8) pQTLs were identified. Two independent SNPs that tagged the multiple sclerosis (MS)-protective HLA class I alleles A*02/A*68 and B*44, respectively, were associated with increased levels of IFNAR2 in B and T cells, with the most prominent effect in IgD-CD27+ memory B cells. The increased IFNAR2 levels in B cells were replicated in cells from an independent set of healthy individuals and in MS patients. Despite increased IFNAR2 levels, B and T cells carrying the MS-protective alleles displayed a reduced response to type I IFN stimulation. Expression and methylation-QTL analysis demonstrated increased mRNA expression of the pseudogene HLA-J in B cells carrying the MS-protective class I alleles, possibly driven via methylation-dependent transcriptional regulation. Together these data suggest that the MS-protective effects of HLA class I alleles are unrelated to their antigen-presenting function, and propose a previously unappreciated function of type I IFN signalling in B and T cells in MS immune-pathogenesis.", "doi": "10.1371/journal.pgen.1009199", "pmid": "33104735", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7644105"}, {"db": "pii", "key": "PGENETICS-D-20-01001"}], "notes": [], "created": "2026-09-23T10:05:50.292Z", "modified": "2026-09-23T10:05:50.443Z"}, {"entity": "publication", "iuid": "7f735f2ca1504f49a10c9531f4dd1726", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/7f735f2ca1504f49a10c9531f4dd1726.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/7f735f2ca1504f49a10c9531f4dd1726"}}, "title": "Transcription profiling of peripheral B cells in antibody-positive primary Sj\u00f6gren's syndrome reveals upregulated expression of CX3CR1 and a type I and type II interferon signature.", "authors": [{"family": "Imgenberg-Kreuz", "given": "J", "initials": "J", "orcid": "0000-0002-7230-8990", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b94ba6e41ec348138bba169099da410d.json"}}, {"family": "Sandling", "given": "J K", "initials": "JK"}, {"family": "Bj\u00f6rk", "given": "A", "initials": "A"}, {"family": "Nordlund", "given": "J", "initials": "J"}, {"family": "Kvarnstr\u00f6m", "given": "M", "initials": "M"}, {"family": "Eloranta", "given": "M-L", "initials": "ML"}, {"family": "R\u00f6nnblom", "given": "L", "initials": "L"}, {"family": "Wahren-Herlenius", "given": "M", "initials": "M", "orcid": "0000-0002-0915-7245", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0db5190dbe894a5e9cd961e66ba5c75d.json"}}, {"family": "Syv\u00e4nen", "given": "A-C", "initials": "AC"}, {"family": "Nordmark", "given": "G", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f618934952594d76a747bcbe2c27bbf2.json"}}], "type": "journal article", "published": "2018-05-00", "journal": {"title": "Scand. J. Immunol.", "issn": "1365-3083", "volume": "87", "issue": "5", "pages": "e12662", "issn-l": "0300-9475"}, "abstract": "B cells play a key role in the pathogenesis of primary Sj\u00f6gren's syndrome (pSS). The aim of this study was to analyse the transcriptome of CD19+ B cells from patients with pSS and healthy controls to decipher the B cell-specific contribution to pSS. RNA from purified CD19+ B cells from 12 anti-SSA antibody-positive untreated female patients with pSS and 20 healthy blood donors was subjected to whole transcriptome sequencing. A false discovery rate corrected significance threshold of \u03b1 < 0.05 was applied to define differential gene expression. As validation, gene expression in B cells from 17 patients with pSS and 16 healthy controls was analysed using a targeted gene panel. RNA-sequencing identified 4047 differentially expressed autosomal genes in pSS B cells. Upregulated expression of type I and type II interferon (IFN)-induced genes was observed, establishing an IFN signature in pSS B cells. Among the top upregulated and validated genes were CX3CR1, encoding the fractalkine receptor involved in regulation of B-cell malignancies, CCL5/RANTES and CCR1. Increased expression of several members of the TNF superfamily was also identified; TNFSF4/Ox40L, TNFSF10/TRAIL, TNFSF13B/BAFF, TNFRSF17/BCMA as well as S100A8 and -A9/calprotectin, TLR7, STAT1 and STAT2. Among genes with downregulated expression in pSS B cells were SOCS1 and SOCS3, CD70 and TNFAIP3/A20. We conclude that B cells from patients with anti-SSA antibody-positive pSS display immune activation with upregulated expression of chemokines, chemokine receptors and a prominent type I and type II IFN signature, while suppressors of cytokine signalling are downregulated. This adds insight into the autoimmune process and suggests potential targets for future functional studies.", "doi": "10.1111/sji.12662", "pmid": "29655283", "labels": [], "xrefs": [], "notes": [], "created": "2018-12-05T12:42:51.885Z", "modified": "2026-09-23T09:15:35.362Z"}]}