{"entity": "researcher", "timestamp": "2026-08-11T08:16:54.525Z", "family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "affiliations": ["Department of Public Health and Clinical Medicine/Rheumatology, Ume\u00e5 University, Ume\u00e5, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59"}}, "publications": [{"entity": "publication", "iuid": "62aeb5e95c7f40e5b971a1dd1f521f6e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/62aeb5e95c7f40e5b971a1dd1f521f6e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/62aeb5e95c7f40e5b971a1dd1f521f6e"}}, "title": "Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large-scale analysis of genetic predisposition and disease subtypes.", "authors": [{"family": "Reid", "given": "Sarah", "initials": "S"}, {"family": "Sandling", "given": "Johanna K", "initials": "JK", "orcid": "0000-0003-1382-2321", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c7bae5a05ac47eeac96547ca7336767.json"}}, {"family": "Pucholt", "given": "Pascal", "initials": "P"}, {"family": "Sayadi", "given": "Ahmed", "initials": "A"}, {"family": "Frodlund", "given": "Martina", "initials": "M"}, {"family": "Lerang", "given": "Karoline", "initials": "K"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Molberg", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Rudin", "given": "Anna", "initials": "A", "orcid": "0000-0002-4137-1276", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa2b87964bc0472b88fa4267ee23c483.json"}}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4dd47b8ca1436e8a26fdea33f5e7f6.json"}}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E", "orcid": "0000-0003-3396-3244", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ab5989c3c604a96bf42b1b6f90434a0.json"}}, {"family": "Bengtsson", "given": "Anders A", "initials": "AA"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications.scilifelab.se/researcher/053ed3b657124a1bab3a78dc685556e6.json"}}, {"family": "Leonard", "given": "Dag", "initials": "D", "orcid": "0000-0002-6275-7282", "researcher": {"href": "https://publications.scilifelab.se/researcher/42ed25c2f495484db4757f4fef51abae.json"}}], "type": "journal article", "published": "2026-01-00", "journal": {"title": "J. Intern. Med.", "issn": "1365-2796", "volume": "299", "issue": "1", "pages": "95-108", "issn-l": "0954-6820"}, "abstract": "Systemic lupus erythematosus (SLE) is an autoimmune disease with a heterogenous clinical picture. This study aimed to link genetic SLE predisposition with relevant clinical manifestations.\n\nDatasets best corresponding to the 11 American College of Rheumatology 1982 (ACR-82) classification criteria for SLE in a large, public database (FinnGen consortium, >218,000 individuals) were identified. Mendelian randomization analysis was conducted to evaluate the effect of a high genetic SLE predisposition on each manifestation. Next, validation was conducted in a clinical SLE cohort comprising 1487 genotyped Scandinavian patients with detailed clinical data. Based on the public datasets, genetic risk scores (GRSs) for each relevant manifestation were constructed for each patient. Associations between each GRS and the corresponding ACR-82 criterion were evaluated using logistic regression.\n\nIn the FinnGen biobank, the cumulative effect of the 57 SLE risk SNPs was associated with an increased risk of rosacea, OR 1.09 (1.03-1.16), polyarthropathies, OR 1.10 (1.06-1.14), pleural effusions, OR 1.09 (1.04-1.14), and hemolytic anemia, OR 1.32 (1.10-1.58). In the clinical cohort, 5 of the 11 GRSs generated from the public datasets were associated with their corresponding ACR-82 criterion: arthritis, OR 1.15 (1.02-1.31), renal disorder, OR 1.15 (1.04-1.29), neurologic disorder, OR 1.24 (1.04-1.47), hematologic disorder, OR 1.12 (1.00-1.24), and immunologic disorder, OR 1.37 (1.22-1.56).\n\nThe findings demonstrate that known SLE risk gene variants play a role in the development of at least half of the ACR-82 criteria for SLE, indicating a future possibility of using genetics to predict a variety of disease sub-phenotypes in SLE.", "doi": "10.1111/joim.70040", "pmid": "41200769", "labels": {"NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12678220"}], "notes": [], "created": "2026-06-01T08:45:42.226Z", "modified": "2026-06-01T08:45:42.343Z"}, {"entity": "publication", "iuid": "e7e4997a81904bfca3075b1e45f9cb0e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e7e4997a81904bfca3075b1e45f9cb0e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e7e4997a81904bfca3075b1e45f9cb0e"}}, "title": "Validation of a Genetic Risk Score Combined with Clinical Variables for Predicting Pulmonary Fibrosis in early Rheumatoid Arthritis.", "authors": [{"family": "Brink", "given": "Mikael", "initials": "M", "orcid": "0000-0001-7675-3488", "researcher": {"href": "https://publications.scilifelab.se/researcher/ecbce4cc891249c5b96f71b6586aa777.json"}}, {"family": "Wheeler", "given": "Austin", "initials": "A", "orcid": "0000-0002-8816-7782", "researcher": {"href": "https://publications.scilifelab.se/researcher/dcae89f571644e0c9aeb200574256acb.json"}}, {"family": "England", "given": "Bryant R", "initials": "BR", "orcid": "0000-0002-9649-3588", "researcher": {"href": "https://publications.scilifelab.se/researcher/3197cc141bd449728e5e65659fc2cada.json"}}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}], "type": "journal article", "published": "2025-11-14", "journal": {"title": "Arthritis Care Res (Hoboken)", "issn": "2151-4658", "issn-l": null, "volume": null, "issue": null, "pages": null}, "abstract": "Pulmonary fibrosis (PF) is a severe extra-articular manifestation of rheumatoid arthritis (RA). The study aimed to externally validate a genetic risk score (GRS) and a combined risk score for predicting the risk of RA-associated PF in an independent cohort of early-RA patients.\r\n\r\nThis study utilized an inception cohort of 1118 patients diagnosed with RA from northern Sweden between 1996 and 2016. Clinical data were systematically collected, and genotyping was performed for 12 single-nucleotide polymorphisms (SNPs) associated with idiopathic pulmonary fibrosis. Statistical analyses, including logistic regression and area under the curve (AUC) assessments, were conducted to evaluate the performance of the GRS and in combination with clinical data as combined risk score in predicting RA-PF development.\r\n\r\nOf the 1115 patients with complete data, 60 (5.6%) were diagnosed with PF. PF was significantly associated with age, rheumatoid factor positivity, disease activity, and MUC5B (rs35705950) and FAM13A(rs2609255) SNPs. The GRS demonstrated a significant association with RA-PF (odds ratio 2.6, (95%CI 1.6, 4.5), while the combined risk score exhibited superior performance (AUC 0.75, p<0.001) compared to the GRS alone (AUC 0.62). The combined risk score outperformed the GRS in discriminating RA-PF, indicating its potential utility in clinical practice.\r\n\r\nThis study provides external validation of the VARA-ILD-GRS and VARA-ILD combined risk score in an RA cohort, demonstrating their generalizability and effectiveness in identifying high-risk individuals for RA-ILD. The findings support the integration of genetic and clinical data in risk stratification models, which could significantly improve screening strategies for RA patients at risk of developing PF.", "doi": "10.1002/acr.25696", "pmid": "41236136", "labels": {"Clinical Genomics": "Service", "Clinical Genomics Ume\u00e5": "Service", "Bioinformatics (NBIS)": "Service", "Bioinformatics Support and Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service"}, "xrefs": [], "notes": [], "created": "2025-11-26T09:18:10.968Z", "modified": "2026-02-10T09:57:37.145Z"}, {"entity": "publication", "iuid": "79cda722345d4dddadc80c3f12903789", "links": {"self": {"href": "https://publications.scilifelab.se/publication/79cda722345d4dddadc80c3f12903789.json"}, "display": {"href": "https://publications.scilifelab.se/publication/79cda722345d4dddadc80c3f12903789"}}, "title": "Cytokines, chemokines and antibodies against histone-3/4 citrullinated peptides in rheumatoid arthritis patients with pulmonary fibrosis.", "authors": [{"family": "Johansson", "given": "Linda", "initials": "L", "orcid": "0000-0001-7071-4699", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b9129e8ce7846e5b35b50f1ff4493e2.json"}}, {"family": "Pratesi", "given": "Federico", "initials": "F", "orcid": "0000-0002-7226-0907", "researcher": {"href": "https://publications.scilifelab.se/researcher/978ceb177a5545c89fe32f0689843120.json"}}, {"family": "Errante", "given": "Fosca", "initials": "F", "orcid": "0000-0001-7790-9886", "researcher": {"href": "https://publications.scilifelab.se/researcher/4f4b94b4ee454c8fa990418b921272ab.json"}}, {"family": "Pacini", "given": "Lorenzo", "initials": "L", "orcid": "0000-0003-0737-2213", "researcher": {"href": "https://publications.scilifelab.se/researcher/c8e5edfce6ae432cb0b3333cd9a8ebfd.json"}}, {"family": "Migliorini", "given": "Paola", "initials": "P", "orcid": "0000-0001-6433-4964", "researcher": {"href": "https://publications.scilifelab.se/researcher/1de011ca211242b3bb0639adc36c47e3.json"}}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}], "type": "journal article", "published": "2025-07-30", "journal": {"title": "Arthritis Res. Ther.", "issn": "1478-6362", "volume": "27", "issue": "1", "pages": "160", "issn-l": "1478-6354"}, "abstract": "Rheumatoid arthritis (RA) associated interstitial lung disease (ILD) is the most common pulmonary manifestations of RA, with a progressive course and a poor survival. An early detection and better treatment is essential to improve outcome. We evaluated 16 analytes that could be relevant for the development of RA ILD.\n\nIn an inception cohort of 1118 early RA patients, pulmonary fibrosis (PF) were identified in 60 patients after a mean follow-up of 5.3 years using high resolution computer tomography (HRCT). As controls, 124 early RA patients without PF and 94 matched population controls without known rheumatic disease were studied. Analysis of antibodies against histones 3 and 4 derived citrullinated peptides (CitH3/H4), and cytokines/chemokines levels were performed in plasma samples collected at RA diagnosis using in-house ELISA and Luminex analysis.\n\nAnti-CitH3(114-135) antibodies were the only antibody with increased frequency and levels in patients with PF versus without PF. The highest OR for PF development were found when combining positivity for anti-CitH3(114-135) and -CitH4(31-50) antibodies, OR 2.26. Levels of IL1\u03b1, IL1\u00df, TNF\u03b1, VEGFA and MIP\u03b1 remained significantly elevated in patients with PF compared without PF, after adjustments and Bonferroni corrections. Several of the cytokines/chemokines correlated significantly with the histone antibodies in patients without PF. Partial least squares discriminant analysis including antibodies against citrullinated histon peptides and cytokines/chemokines identified significantly in PF in non-smokers.\n\nAntibodies against CitH3 peptides and several of the analysed cytokines/chemokines in samples collected at diagnosis were associated with subsequent delevopment of PF in patients with RA.", "doi": "10.1186/s13075-025-03603-x", "pmid": "40739515", "labels": {"Bioinformatics (NBIS)": "Service", "Bioinformatics Support and Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12308956"}, {"db": "pii", "key": "10.1186/s13075-025-03603-x"}], "notes": [], "created": "2025-11-21T11:45:04.126Z", "modified": "2025-11-21T11:45:04.707Z"}, {"entity": "publication", "iuid": "b5e92260b7eb4e89a6a71c678e822438", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b5e92260b7eb4e89a6a71c678e822438.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b5e92260b7eb4e89a6a71c678e822438"}}, "title": "In-Depth Analysis of Disease Manifestations in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides Identifies Distinct Clinical Phenotypes.", "authors": [{"family": "Lindberg", "given": "Hanna", "initials": "H"}, {"family": "Knight", "given": "Ann", "initials": "A"}, {"family": "Hellbacher", "given": "Erik", "initials": "E"}, {"family": "Norling", "given": "Olof", "initials": "O"}, {"family": "Berglin", "given": "Ewa", "initials": "E"}, {"family": "Stegmayr", "given": "Bernd", "initials": "B"}, {"family": "Baslund", "given": "Bo", "initials": "B"}, {"family": "Palm", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Haukeland", "given": "Hilde", "initials": "H"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Bruchfeld", "given": "Annette", "initials": "A"}, {"family": "Weiner", "given": "Maria", "initials": "M"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Segelmark", "given": "M\u00e5rten", "initials": "M"}, {"family": "Ohlsson", "given": "Sophie", "initials": "S"}, {"family": "Mohammad", "given": "Aladdin J", "initials": "AJ"}, {"family": "Sv\u00e4rd", "given": "Anna", "initials": "A"}, {"family": "Pullerits", "given": "Rille", "initials": "R"}, {"family": "Herlitz", "given": "Hans", "initials": "H"}, {"family": "S\u00f6derbergh", "given": "Annika", "initials": "A"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Dahlqvist", "given": "Johanna", "initials": "J"}], "type": "journal article", "published": "2025-03-00", "journal": {"title": "ACR Open Rheumatol", "issn": "2578-5745", "volume": "7", "issue": "3", "pages": "e70009", "issn-l": null}, "abstract": "The antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides are heterogeneous disorders. The aim of this study was to identify and characterize subgroups of patients based on sex, ANCA, age at diagnosis, and organ involvement.\n\nIn total, 1,167 patients with granulomatosis with polyangiitis (GPA) or microscopic polyangiitis (MPA) were retrospectively recruited to the study. Data including cumulative involvement of 10 different organ systems, end-stage kidney disease (ESKD), sex, proteinase (PR) 3-ANCA, myeloperoxidase (MPO)-ANCA, age at diagnosis, disease duration, and relapse were obtained from medical records. Clinical variables were analyzed for associations with sex, age at diagnosis, and relapse using logistic regression analysis. Thirteen clinical variables were included in hierarchical cluster analyses using the Ward method.\n\nIn patients with GPA, PR3-ANCA, renal and pulmonary involvement, and ESKD were significantly associated with male sex, whereas MPO-ANCA was associated with female sex. Patients with GPA who were younger than 32 years of age at diagnosis were significantly more often females and had more ear-nose-throat involvement than patients older than 32 years. In patients with MPA, female patients were significantly younger at diagnosis than male patients. Relapse was significantly associated with young age at diagnosis and pulmonary involvement in GPA and with musculoskeletal involvement in MPA. Hierarchical cluster analyses identified five and seven patient clusters among individuals with GPA and MPA, respectively. PR3-/MPO-ANCA defined the largest clusters, whereas heart, gastrointestinal, and central nervous system involvement were hallmarks for three clusters for both patients with GPA and MPA.\n\nSex, age at diagnosis, and specific organ involvements define clinically relevant subgroups among patients with ANCA-associated vasculitides.", "doi": "10.1002/acr2.70009", "pmid": "40033657", "labels": {"Bioinformatics (NBIS)": "Service", "Bioinformatics Support and Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11876290"}], "notes": [], "created": "2025-11-17T10:12:19.867Z", "modified": "2025-11-17T10:12:19.927Z"}, {"entity": "publication", "iuid": "ab8fa0c345a2433995ebac47f3ad0b58", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ab8fa0c345a2433995ebac47f3ad0b58.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ab8fa0c345a2433995ebac47f3ad0b58"}}, "title": "Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.", "authors": [{"family": "Sayadi", "given": "Ahmed", "initials": "A", "orcid": "0000-0002-5662-9145", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f74f301499b4f888e0ac7c5161ae161.json"}}, {"family": "Sandling", "given": "Johanna K", "initials": "JK", "orcid": "0000-0003-1382-2321", "researcher": {"href": "https://publications.scilifelab.se/researcher/9c7bae5a05ac47eeac96547ca7336767.json"}}, {"family": "Eloranta", "given": "Maija-Leena", "initials": "ML", "orcid": "0000-0002-8454-1351", "researcher": {"href": "https://publications.scilifelab.se/researcher/d162e060954d420e825884f254886dcd.json"}}, {"family": "ImmunoArray Development Consortium", "given": "", "initials": ""}, {"family": "DISSECT Consortium", "given": "", "initials": ""}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4dd47b8ca1436e8a26fdea33f5e7f6.json"}}, {"family": "Bengtsson", "given": "Anders A", "initials": "AA"}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E", "orcid": "0000-0003-3396-3244", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ab5989c3c604a96bf42b1b6f90434a0.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0063145f7d6476f80ab42f94833f4cf.json"}}, {"family": "Leonard", "given": "Dag", "initials": "D", "orcid": "0000-0002-6275-7282", "researcher": {"href": "https://publications.scilifelab.se/researcher/42ed25c2f495484db4757f4fef51abae.json"}}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications.scilifelab.se/researcher/053ed3b657124a1bab3a78dc685556e6.json"}}, {"family": " DISSECT Consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2025-02-11", "journal": {"title": "Lupus Sci Med", "issn": "2053-8790", "volume": "12", "issue": "1", "issn-l": "2053-8790"}, "abstract": "SLE is a systemic autoimmune disease with a large number of common risk gene variants, but several rare gene variants can cause monogenic SLE. The relationship between common and rare variants in SLE is unclear. We therefore investigated the occurrence of rare deleterious variants in patients with childhood-onset SLE (cSLE) and adult-onset SLE (aSLE) and compared the frequency of these variants with their individual SLE polygenic risk score (PRS).\n\nTargeted sequencing of 1832 gene regions, including coding regions of 31 genes associated with monogenic SLE, was performed in 958 patients with SLE and 1026 healthy individuals. A total of 116 patients with SLE had disease onset before the age of 18 (cSLE). An SLE common variant PRS was created from 37 SLE genome-wide association study single nucleotide variants (SNVs).\n\nRare coding deleterious SNVs (RD SNVs) were observed in 23 of the monogenic SLE-associated genes. Six per cent of patients with cSLE, compared with 3.2% of controls and 4.6% of patients with aSLE, carried rare deleterious alleles. In cSLE, RD SNVs were observed in the C1S, DDX58, IFIH1, IKZF1, RNASEH2A and C8A genes. A PRS analysis showed that patients with cSLE with any of these gene variants had a similar average PRS as control individuals.\n\nRD SNVs were observed in a small proportion of cSLE and carriers of these RD SNVs had a PRS similar to healthy individuals, suggesting the importance of rare coding heterozygous variants in driving disease risk in a subset of children with SLE.", "doi": "10.1136/lupus-2024-001436", "pmid": "39933823", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI Short read": "Service"}, "xrefs": [{"db": "pii", "key": "12/1/e001436"}], "notes": [], "created": "2025-02-12T13:49:33.306Z", "modified": "2025-03-24T08:21:29.400Z"}, {"entity": "publication", "iuid": "5959d8a1ef54451098a8e6ac640e7442", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5959d8a1ef54451098a8e6ac640e7442.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5959d8a1ef54451098a8e6ac640e7442"}}, "title": "Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.", "authors": [{"family": "Bianchi", "given": "Matteo", "initials": "M", "orcid": "0000-0003-3394-6495", "researcher": {"href": "https://publications.scilifelab.se/researcher/d645ef0e04a245f0ac9e7d7498b2bd69.json"}}, {"family": "Kozyrev", "given": "Sergey V", "initials": "SV", "orcid": "0000-0001-6209-4100", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6be89ad73a14d66a3b9439efc9c4099.json"}}, {"family": "Notarnicola", "given": "Antonella", "initials": "A", "orcid": "0000-0003-0272-2931", "researcher": {"href": "https://publications.scilifelab.se/researcher/42411ecc60cd4357930ff0e978b3fcd8.json"}}, {"family": "Sandling", "given": "Johanna K", "initials": "JK"}, {"family": "Pettersson", "given": "Mats", "initials": "M"}, {"family": "Leonard", "given": "Dag", "initials": "D"}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4dd47b8ca1436e8a26fdea33f5e7f6.json"}}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Bengtsson", "given": "Anders A", "initials": "AA"}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E", "orcid": "0000-0003-3396-3244", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ab5989c3c604a96bf42b1b6f90434a0.json"}}, {"family": "Enocsson", "given": "Helena", "initials": "H", "orcid": "0000-0002-2125-2931", "researcher": {"href": "https://publications.scilifelab.se/researcher/e34f7f45437c404da069fe0e83bf11f6.json"}}, {"family": "Kvarnstr\u00f6m", "given": "Marika", "initials": "M"}, {"family": "Forsblad-d'Elia", "given": "Helena", "initials": "H"}, {"family": "Bucher", "given": "Sara Magnusson", "initials": "SM"}, {"family": "Norheim", "given": "Katrine B", "initials": "KB"}, {"family": "Baecklund", "given": "Eva", "initials": "E"}, {"family": "Jonsson", "given": "Roland", "initials": "R"}, {"family": "Hammenfors", "given": "Daniel", "initials": "D"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Mandl", "given": "Thomas", "initials": "T"}, {"family": "Omdal", "given": "Roald", "initials": "R"}, {"family": "Padyukov", "given": "Leonid", "initials": "L"}, {"family": "Andersson", "given": "Helena", "initials": "H"}, {"family": "Molberg", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Diederichsen", "given": "Louise Pyndt", "initials": "LP"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Wahren-Herlenius", "given": "Marie", "initials": "M", "orcid": "0000-0002-0915-7245", "researcher": {"href": "https://publications.scilifelab.se/researcher/a8451e7f5e6e4e4da0bace3dfafaeb38.json"}}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications.scilifelab.se/researcher/188fda53498740dbb007441cc94bb1ad.json"}}, {"family": "Lundberg", "given": "Ingrid E", "initials": "IE", "orcid": "0000-0002-6068-9212", "researcher": {"href": "https://publications.scilifelab.se/researcher/40f6c8e761a944b78e67f0e04453f78b.json"}}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "with the DISSECT consortium and the ImmunoArray consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2025-02-00", "journal": {"title": "Arthritis & rheumatology (Hoboken, N.J.)", "issn": "2326-5205", "volume": "77", "issue": "2", "pages": "212-225", "issn-l": "2326-5191"}, "abstract": "Systemic inflammatory autoimmune diseases (SIADs) such as systemic lupus erythematosus (SLE), primary Sj\u00f6gren disease (pSS), and idiopathic inflammatory myopathies (myositis) are complex conditions characterized by shared circulating autoantibodies and clinical manifestations, including skin rashes, among others. This study was aimed at elucidating the genetics underlying these common features.\n\nWe performed targeted DNA sequencing of coding and regulatory regions from approximately 1,900 immune-related genes in a large cohort of 2,292 well-characterized Scandinavian patients with SIADs with SLE, pSS, and myositis as well as 1,252 controls. A gene-based functionally weighted genetic score for aggregate testing of all genetic variants, including rare variants, was complemented by in silico functional analyses and in vitro reporter experiments.\n\nCase-control association analysis detected known and potentially novel genetic loci in agreement with previous genetic and transcriptomics findings linked to the SIAD autoimmune background. Intriguingly, case-case comparisons between patient subgroups with and without specific autoantibodies revealed that the subgroups defined by antinuclear antibodies and anti-double-stranded DNA antibodies have unique genetic profiles reflecting their heterogeneity. When focusing on clinical features, we overall showed that dual-specificity phosphatase 1 (DUSP1) protective genetic variants lead to increased gene expression and potentially to anti-inflammatory effects on the SIAD-associated skin phenotype. This is consistent with recent genetic findings on eczema and with the previously reported down-regulation of the MAPK signaling-related gene DUSP1 in other skin disorders.\n\nTogether, this suggests common molecular mechanisms potentially underlying overlapping clinical manifestations shared among different disorders and informs clinical heterogeneity, which could be translated to improve disease diagnostic and treatment, also in more generalized disease frameworks.", "doi": "10.1002/art.42988", "pmid": "39284741", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI Short read": "Service", "Bioinformatics Support for Computational Resources": "Service", "NGI SNP genotyping": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11782108"}], "notes": [], "created": "2024-11-12T11:40:11.189Z", "modified": "2025-09-08T06:50:36.661Z"}, {"entity": "publication", "iuid": "63e7b29f92a149148163f3d5af923fbd", "links": {"self": {"href": "https://publications.scilifelab.se/publication/63e7b29f92a149148163f3d5af923fbd.json"}, "display": {"href": "https://publications.scilifelab.se/publication/63e7b29f92a149148163f3d5af923fbd"}}, "title": "The HLA region in ANCA-associated vasculitis: characterisation of genetic associations in a Scandinavian patient population.", "authors": [{"family": "Lundtoft", "given": "Christian", "initials": "C"}, {"family": "Knight", "given": "Ann", "initials": "A"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Berglin", "given": "Ewa", "initials": "E"}, {"family": "Palm", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Haukeland", "given": "Hilde", "initials": "H"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Bruchfeld", "given": "Annette", "initials": "A"}, {"family": "Segelmark", "given": "M\u00e5rten", "initials": "M"}, {"family": "Ohlsson", "given": "Sophie", "initials": "S"}, {"family": "Mohammad", "given": "Aladdin J", "initials": "AJ", "orcid": "0000-0002-7169-6936", "researcher": {"href": "https://publications.scilifelab.se/researcher/d7010c3f5b91415dbc26c87d6a923f68.json"}}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Ronnblom", "given": "Lars", "initials": "L"}, {"family": "Omdal", "given": "Roald", "initials": "R"}, {"family": "Jonsson", "given": "Roland", "initials": "R", "orcid": "0000-0002-9588-0260", "researcher": {"href": "https://publications.scilifelab.se/researcher/f6edb43a7da34bf9af85c876b1b8974a.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Dahlqvist", "given": "Johanna", "initials": "J", "orcid": "0000-0002-6283-644X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fb2ab2d83b6437f9918f330e5fb81b2.json"}}], "type": "journal article", "published": "2024-04-04", "journal": {"title": "RMD Open", "issn": "2056-5933", "volume": "10", "issue": "2", "issn-l": "2056-5933"}, "abstract": "The antineutrophil cytoplasmic antibody (ANCA)-associated vasculitides (AAV) are inflammatory disorders with ANCA autoantibodies recognising either proteinase 3 (PR3-AAV) or myeloperoxidase (MPO-AAV). PR3-AAV and MPO-AAV have been associated with distinct loci in the human leucocyte antigen (HLA) region. While the association between MPO-AAV and HLA has been well characterised in East Asian populations where MPO-AAV is more common, studies in populations of European descent are limited. The aim of this study was to thoroughly characterise associations to the HLA region in Scandinavian patients with PR3-AAV as well as MPO-AAV.\n\nGenotypes of single-nucleotide polymorphisms (SNPs) located in the HLA region were extracted from a targeted exome-sequencing dataset comprising Scandinavian AAV cases and controls. Classical HLA alleles were called using xHLA. After quality control, association analyses were performed of a joint SNP/classical HLA allele dataset for cases with PR3-AAV (n=411) and MPO-AAV (n=162) versus controls (n=1595). Disease-associated genetic variants were analysed for association with organ involvement, age at diagnosis and relapse, respectively.\n\nPR3-AAV was significantly associated with both HLA-DPB1*04:01 and rs1042335 at the HLA-DPB1 locus, also after stepwise conditional analysis. MPO-AAV was significantly associated with HLA-DRB1*04:04. Neither carriage of HLA-DPB1*04:01 alleles in PR3-AAV nor of HLA-DRB1*04:04 alleles in MPO-AAV were associated with organ involvement, age at diagnosis or relapse.\n\nThe association to the HLA region was distinct in Scandinavian cases with MPO-AAV compared with cases of East Asian descent. In PR3-AAV, the two separate signals of association to the HLD-DPB1 region mediate potentially different functional effects.", "doi": "10.1136/rmdopen-2023-004039", "pmid": "38580345", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support, Infrastructure and Training": "Service", "Bioinformatics Support and Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11002376"}, {"db": "pii", "key": "rmdopen-2023-004039"}], "notes": [], "created": "2024-04-15T06:10:27.649Z", "modified": "2024-11-25T10:28:43.870Z"}, {"entity": "publication", "iuid": "20bb1b4554cb4d499841f007d0b0230a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/20bb1b4554cb4d499841f007d0b0230a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/20bb1b4554cb4d499841f007d0b0230a"}}, "title": "Stratified genetic analysis reveals sex differences in MPO-ANCA-associated vasculitis.", "authors": [{"family": "Ekman", "given": "Diana", "initials": "D"}, {"family": "Sennblad", "given": "Bengt", "initials": "B"}, {"family": "Knight", "given": "Ann", "initials": "A"}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Berglin", "given": "Ewa", "initials": "E"}, {"family": "Stegmayr", "given": "Bernd", "initials": "B"}, {"family": "Baslund", "given": "Bo", "initials": "B"}, {"family": "Palm", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Haukeland", "given": "Hilde", "initials": "H"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Bruchfeld", "given": "Annette", "initials": "A", "orcid": "0000-0002-9752-9941", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc6ee3e8a4124c5f8d6506ab762949ae.json"}}, {"family": "Segelmark", "given": "M\u00e5rten", "initials": "M"}, {"family": "Ohlsson", "given": "Sophie", "initials": "S"}, {"family": "Mohammad", "given": "Aladdin J", "initials": "AJ", "orcid": "0000-0002-7169-6936", "researcher": {"href": "https://publications.scilifelab.se/researcher/d7010c3f5b91415dbc26c87d6a923f68.json"}}, {"family": "Sv\u00e4rd", "given": "Anna", "initials": "A"}, {"family": "Pullerits", "given": "Rille", "initials": "R"}, {"family": "Herlitz", "given": "Hans", "initials": "H"}, {"family": "S\u00f6derbergh", "given": "Annika", "initials": "A"}, {"family": "Omdal", "given": "Roald", "initials": "R"}, {"family": "Jonsson", "given": "Roland", "initials": "R"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "Dahlqvist", "given": "Johanna", "initials": "J", "orcid": "0000-0002-6283-644X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fb2ab2d83b6437f9918f330e5fb81b2.json"}}], "type": "journal article", "published": "2023-09-01", "journal": {"title": "Rheumatology (Oxford)", "issn": "1462-0332", "issn-l": "1462-0324", "volume": "62", "issue": "9", "pages": "3213-3218"}, "abstract": "To identify and genetically characterize subgroups of patients with ANCA-associated vasculitides (AAV) based on sex and ANCA subtype.\n\nA previously established SNP dataset derived from DNA sequencing of 1853 genes and genotyping of 1088 Scandinavian cases with AAV and 1589 controls was stratified for sex and ANCA subtype and analysed for association with five top AAV SNPs. rs9274619, a lead variant at the HLA-DQB1/HLA-DQA2 locus previously associated with AAV positive for myeloperoxidase (MPO)-ANCA, was analysed for association with the cumulative disease involvement of ten different organ systems.\n\nrs9274619 showed a significantly stronger association to MPO-ANCA-positive females than males [P = 2.0 \u00d7 10-4, OR = 2.3 (95% CI 1.5, 3.5)], whereas proteinase 3 (PR3)-ANCA-associated variants rs1042335, rs9277341 (HLA-DPB1/A1) and rs28929474 (SERPINA1) were equally associated with females and males with PR3-ANCA. In MPO-ANCA-positive cases, carriers of the rs9274619 risk allele were more prone to disease engagement of eyes [P = 0.021, OR = 11 (95% CI 2.2, 205)] but less prone to pulmonary involvement [P = 0.026, OR = 0.52 (95% CI 0.30, 0.92)]. Moreover, AAV with both MPO-ANCA and PR3-ANCA was associated with the PR3-ANCA lead SNP rs1042335 [P = 0.0015, OR = 0.091 (95% CI 0.0022, 0.55)] but not with rs9274619.\n\nFemales and males with MPO-ANCA-positive AAV differ in genetic predisposition to disease, suggesting at least partially distinct disease mechanisms between the sexes. Double ANCA-positive AAV cases are genetically similar to PR3-ANCA-positive cases, providing clues to the clinical follow-up and treatment of these patients.", "doi": "10.1093/rheumatology/kead152", "pmid": "37004177", "labels": {"Bioinformatics Long-term Support WABI": "Collaborative", "Bioinformatics Support, Infrastructure and Training": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Short read": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10473270"}, {"db": "pii", "key": "7099616"}], "notes": [], "created": "2023-04-04T12:12:11.801Z", "modified": "2024-01-16T13:48:32.331Z"}, {"entity": "publication", "iuid": "070b694696014ed78f1f2be943ae1025", "links": {"self": {"href": "https://publications.scilifelab.se/publication/070b694696014ed78f1f2be943ae1025.json"}, "display": {"href": "https://publications.scilifelab.se/publication/070b694696014ed78f1f2be943ae1025"}}, "title": "Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.", "authors": [{"family": "Lundtoft", "given": "Christian", "initials": "C", "orcid": "0000-0001-5872-4253", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a05532d3aad4e2dbe00a4724e8dddd8.json"}}, {"family": "Eriksson", "given": "Daniel", "initials": "D"}, {"family": "Bianchi", "given": "Matteo", "initials": "M"}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M"}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "Consortium", "given": "DISSECT", "initials": "D"}, {"family": ",,", "given": "", "initials": ""}, {"family": "Consortium", "given": "ImmunoArray", "initials": "I"}, {"family": ",,", "given": "", "initials": ""}, {"family": "Group", "given": "Swedish Addison Registry Study", "initials": "SARS"}, {"family": ",,", "given": "", "initials": ""}, {"family": "Bensing", "given": "Sophie", "initials": "S", "orcid": "0000-0002-9193-2860", "researcher": {"href": "https://publications.scilifelab.se/researcher/acae2ad8ca844588b2b850c863034b7b.json"}}, {"family": "Pielberg", "given": "Gerli Rosengren", "initials": "GR"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}], "type": "journal article", "published": "2023-08-02", "journal": {"title": "Eur. J. Endocrinol.", "issn": "1479-683X", "issn-l": "0804-4643", "volume": "189", "issue": "2", "pages": "235-241"}, "abstract": "Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte antigen (HLA) region together with the highly similar pseudogene CYP21A1P. A high level of copy number variation is seen for the 2 genes, and therefore, we asked whether genetic variation of the CYP21 genes is associated with AAD.\r\n\r\nCase-control study on patients with AAD and healthy controls.\r\n\r\nUsing next-generation DNA sequencing, we estimated the copy number of CYP21A2 and CYP21A1P, together with HLA alleles, in 479 Swedish patients with AAD and autoantibodies against 21-hydroxylase and in 1393 healthy controls.\r\n\r\nWith 95% of individuals carrying 2 functional 21-hydroxylase genes, no difference in CYP21A2 copy number was found when comparing patients and controls. In contrast, we discovered a lower copy number of the pseudogene CYP21A1P among AAD patients (P = 5 \u00d7 10-44), together with associations of additional nucleotide variants, in the CYP21 region. However, the strongest association was found for HLA-DQB1*02:01 (P = 9 \u00d7 10-63), which, in combination with the DRB1*04:04-DQB1*03:02 haplotype, imposed the greatest risk of AAD.\r\n\r\nWe identified strong associations between copy number variants in the CYP21 region and risk of AAD, although these associations most likely are due to linkage disequilibrium with disease-associated HLA class II alleles.", "doi": "10.1093/ejendo/lvad102", "pmid": "37553728", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "7239340"}], "notes": [], "created": "2023-11-27T21:51:56.107Z", "modified": "2024-01-16T13:48:32.542Z"}, {"entity": "publication", "iuid": "143d8fa5b14d4da59b547cdab40f00ee", "links": {"self": {"href": "https://publications.scilifelab.se/publication/143d8fa5b14d4da59b547cdab40f00ee.json"}, "display": {"href": "https://publications.scilifelab.se/publication/143d8fa5b14d4da59b547cdab40f00ee"}}, "title": "Pathogenic antibody response to glucose-6-phosphate isomerase targets a modified epitope uniquely exposed on joint cartilage.", "authors": [{"family": "Li", "given": "Taotao", "initials": "T", "orcid": "0000-0001-6775-9976", "researcher": {"href": "https://publications.scilifelab.se/researcher/2f265876c30443b8a8ef616d7029e64a.json"}}, {"family": "Ge", "given": "Changrong", "initials": "C"}, {"family": "Kr\u00e4mer", "given": "Alexander", "initials": "A"}, {"family": "Sareila", "given": "Outi", "initials": "O", "orcid": "0000-0001-5644-8216", "researcher": {"href": "https://publications.scilifelab.se/researcher/bf109dc5ef0c4ad4ac2bd28770555e09.json"}}, {"family": "Leu Agelii", "given": "Monica", "initials": "M", "orcid": "0000-0003-4013-7549", "researcher": {"href": "https://publications.scilifelab.se/researcher/521b91a3f436415e96585996f64b85b1.json"}}, {"family": "Johansson", "given": "Linda", "initials": "L", "orcid": "0000-0001-7071-4699", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b9129e8ce7846e5b35b50f1ff4493e2.json"}}, {"family": "Forslind", "given": "Kristina", "initials": "K"}, {"family": "L\u00f6nnblom", "given": "Erik", "initials": "E", "orcid": "0000-0002-1311-2541", "researcher": {"href": "https://publications.scilifelab.se/researcher/0f5683b51d554ff482bd76c0ded3aaa2.json"}}, {"family": "Yang", "given": "Min", "initials": "M"}, {"family": "Xu", "given": "Bingze", "initials": "B", "orcid": "0000-0002-5341-1722", "researcher": {"href": "https://publications.scilifelab.se/researcher/d262ebec52004d1f8bc77d43cafe0cc7.json"}}, {"family": "Li", "given": "Qixing", "initials": "Q"}, {"family": "Cheng", "given": "Lei", "initials": "L"}, {"family": "Bergstr\u00f6m", "given": "G\u00f6ran", "initials": "G"}, {"family": "Fernandez", "given": "Gonzalo", "initials": "G"}, {"family": "Kastbom", "given": "Alf", "initials": "A", "orcid": "0000-0001-7187-1477", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9b6d835959e4613995904bf3a01733c.json"}}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Gjertsson", "given": "Inger", "initials": "I", "orcid": "0000-0002-9301-4844", "researcher": {"href": "https://publications.scilifelab.se/researcher/56e95592e89f43cba8eb30bd32da1cc8.json"}}, {"family": "Holmdahl", "given": "Rikard", "initials": "R", "orcid": "0000-0002-4969-2576", "researcher": {"href": "https://publications.scilifelab.se/researcher/49e60d22dd1a4dd1a4ca5a50d9fc4fc7.json"}}], "type": "journal article", "published": "2023-06-00", "journal": {"title": "Ann. Rheum. Dis.", "issn": "1468-2060", "volume": "82", "issue": "6", "pages": "799-808", "issn-l": "0003-4967"}, "abstract": "To identify the arthritogenic B cell epitopes of glucose-6-phosphate isomerase (GPI) and their association with rheumatoid arthritis (RA).\n\nIgG response towards a library of GPI peptides in patients with early RA, pre-symptomatic individuals and population controls, as well as in mice, were tested by bead-based multiplex immunoassays and ELISA. Monoclonal IgG were generated, and the binding specificity and affinity were determined by ELISA, gel size exclusion chromatography, surface plasma resonance and X-ray crystallography. Arthritogenicity was investigated by passive transfer experiments. Antigen-specific B cells were identified by peptide tetramer staining.\n\nPeptide GPI293-307 was the dominant B cell epitope in K/BxN and GPI-immunised mice. We could detect B cells and low levels of IgM antibodies binding the GPI293-307 epitopes, and high affinity anti-GPI293-307 IgG antibodies already 7 days after GPI immunisation, immediately before arthritis onset. Transfer of anti-GPI293-307 IgG antibodies induced arthritis in mice. Moreover, anti-GPI293-307 IgG antibodies were more frequent in individuals prior to RA onset (19%) than in controls (7.5%). GPI293-307-specific antibodies were associated with radiographic joint damage. Crystal structures of the Fab-peptide complex revealed that this epitope is not exposed in native GPI but requires conformational change of the protein in inflamed joint for effective recognition by anti-GPI293-307 antibodies.\n\nWe have identified the major pathogenic B cell epitope of the RA-associated autoantigen GPI, at position 293-307, exposed only on structurally modified GPI on the cartilage surface. B cells to this neo-epitope escape tolerance and could potentially play a role in the pathogenesis of RA.", "doi": "10.1136/ard-2022-223633", "pmid": "36858822", "labels": {"Bioinformatics Long-term Support WABI": "Service", "Bioinformatics Support, Infrastructure and Training": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pii", "key": "ard-2022-223633"}], "notes": [], "created": "2023-11-23T13:32:53.288Z", "modified": "2023-11-23T13:32:53.448Z"}, {"entity": "publication", "iuid": "ff8dc12cb1284e6b88f4db7e43d66c19", "links": {"self": {"href": "https://publications.scilifelab.se/publication/ff8dc12cb1284e6b88f4db7e43d66c19.json"}, "display": {"href": "https://publications.scilifelab.se/publication/ff8dc12cb1284e6b88f4db7e43d66c19"}}, "title": "Anti-citrullinated protein antibody specificities and pulmonary fibrosis in relation to genetic loci in early rheumatoid arthritis.", "authors": [{"family": "Brink", "given": "Mikael", "initials": "M", "orcid": "0000-0001-7675-3488", "researcher": {"href": "https://publications.scilifelab.se/researcher/ecbce4cc891249c5b96f71b6586aa777.json"}}, {"family": "Ljung", "given": "Lotta", "initials": "L", "orcid": "0000-0001-8999-0925", "researcher": {"href": "https://publications.scilifelab.se/researcher/ad0a3f26e6a64fa9b42d4c4dbcd9a2f6.json"}}, {"family": "Hansson", "given": "Monika", "initials": "M"}, {"family": "R\u00f6nnelid", "given": "Johan", "initials": "J", "orcid": "0000-0003-1186-3226", "researcher": {"href": "https://publications.scilifelab.se/researcher/25d1ba81c51a4bca974e84c9ea117cbe.json"}}, {"family": "Holmdahl", "given": "Rickard", "initials": "R", "orcid": "0000-0002-4969-2576", "researcher": {"href": "https://publications.scilifelab.se/researcher/49e60d22dd1a4dd1a4ca5a50d9fc4fc7.json"}}, {"family": "Skriner", "given": "Karl", "initials": "K", "orcid": "0000-0002-5415-270X", "researcher": {"href": "https://publications.scilifelab.se/researcher/649a490bd59b4775997cce2cd5f60bed.json"}}, {"family": "Serre", "given": "Guy", "initials": "G"}, {"family": "Klareskog", "given": "Lars", "initials": "L"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}], "type": "journal article", "published": "2022-11-28", "journal": {"title": "Rheumatology (Oxford)", "issn": "1462-0332", "volume": "61", "issue": "12", "pages": "4985-4990", "issn-l": "1462-0324"}, "abstract": "Pulmonary manifestations in RA are common comorbidities, but the underlying mechanisms are largely unknown. The added value of a multiplex of ACPA and genetic risk markers was evaluated for the development of pulmonary fibrosis (PF) in an inception cohort.\n\nA total of 1184 patients with early RA were consecutively included and followed prospectively from the index date until death or 31 December 2016. The presence of 21 ACPA fine specificities was analysed using a custom-made microarray chip (Thermo Fisher Scientific, Uppsala, Sweden). Three SNPs, previously found related to PF were evaluated, rs2609255 (FAM13A), rs111521887 (TOLLIP) and rs35705950 (MUC5B). ACPA and genetic data were available for 841 RA patients, of whom 50 developed radiologically defined PF.\n\nIn unadjusted analyses, 11 ACPA specificities were associated with PF development. In multiple variable analyses, six ACPA specificities were associated with increased risk of PF: vimentin (Vim)60-75, fibrinogen (Fib)\u03b262-78 (72), Fib\u03b1621-635, Bla26, collagen (C)II359-369 and F4-CIT-R (P < 0.01 to P < 0.05). The number of ACPA specificities was also related to PF development (P < 0.05 crude and adjusted models). In multiple variable models respectively adjusted for each of the SNPs, the number of ACPA specificities (P < 0.05 in all models), anti-Vim60-75 (P < 0.05, in all models), anti-Fib\u03b262-78 (72) (P < 0.001 to P < 0.05), anti-CII359-369 (P < 0.05 in all models) and anti-F4-CIT-R AQ4 (P < 0.01 to P < 0.05), anti-Fib\u03b1621-635 (P < 0.05 in one) and anti-Bla26 (P < 0.05 in two) were significantly associated with PF development.\n\nThe development of PF in an inception cohort of RA patients was associated with both presence of certain ACPA and the number of ACPA specificities and risk genes.", "doi": "10.1093/rheumatology/keac280", "pmid": "35532073", "labels": {"National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "6582550"}], "notes": [], "created": "2022-05-23T13:59:39.107Z", "modified": "2024-01-16T13:48:34.409Z"}, {"entity": "publication", "iuid": "4a28dd5860e7477c82ea19ebbdb98820", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4a28dd5860e7477c82ea19ebbdb98820.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4a28dd5860e7477c82ea19ebbdb98820"}}, "title": "Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA.", "authors": [{"family": "Dahlqvist", "given": "Johanna", "initials": "J", "orcid": "0000-0002-6283-644X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fb2ab2d83b6437f9918f330e5fb81b2.json"}}, {"family": "Ekman", "given": "Diana", "initials": "D"}, {"family": "Sennblad", "given": "Bengt", "initials": "B"}, {"family": "Kozyrev", "given": "Sergey V", "initials": "SV"}, {"family": "Nordin", "given": "Jessika", "initials": "J"}, {"family": "Karlsson", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "Hellbacher", "given": "Erik", "initials": "E"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Berglin", "given": "Ewa", "initials": "E"}, {"family": "Stegmayr", "given": "Bernd", "initials": "B"}, {"family": "Baslund", "given": "Bo", "initials": "B"}, {"family": "Palm", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Haukeland", "given": "Hilde", "initials": "H"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Bruchfeld", "given": "Annette", "initials": "A", "orcid": "0000-0002-9752-9941", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc6ee3e8a4124c5f8d6506ab762949ae.json"}}, {"family": "Segelmark", "given": "M\u00e5rten", "initials": "M"}, {"family": "Ohlsson", "given": "Sophie", "initials": "S"}, {"family": "Mohammad", "given": "Aladdin J", "initials": "AJ", "orcid": "0000-0002-7169-6936", "researcher": {"href": "https://publications.scilifelab.se/researcher/d7010c3f5b91415dbc26c87d6a923f68.json"}}, {"family": "Sv\u00e4rd", "given": "Anna", "initials": "A"}, {"family": "Pullerits", "given": "Rille", "initials": "R"}, {"family": "Herlitz", "given": "Hans", "initials": "H"}, {"family": "S\u00f6derbergh", "given": "Annika", "initials": "A"}, {"family": "Rosengren Pielberg", "given": "Gerli", "initials": "G"}, {"family": "Hultin Rosenberg", "given": "Lina", "initials": "L"}, {"family": "Bianchi", "given": "Matteo", "initials": "M"}, {"family": "Mur\u00e9n", "given": "Eva", "initials": "E"}, {"family": "Omdal", "given": "Roald", "initials": "R"}, {"family": "Jonsson", "given": "Roland", "initials": "R"}, {"family": "Eloranta", "given": "Maija-Leena", "initials": "ML"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Knight", "given": "Ann", "initials": "A"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}], "type": "journal article", "published": "2022-08-03", "journal": {"title": "Rheumatology (Oxford)", "issn": "1462-0332", "volume": "61", "issue": "8", "pages": "3461-3470", "issn-l": "1462-0324"}, "abstract": "To identify and characterize genetic loci associated with the risk of developing ANCA-associated vasculitides (AAV).\n\nGenetic association analyses were performed after Illumina sequencing of 1853 genes and subsequent replication with genotyping of selected single nucleotide polymorphisms in a total cohort of 1110 Scandinavian cases with granulomatosis with polyangiitis or microscopic polyangiitis, and 1589 controls. A novel AAV-associated single nucleotide polymorphism was analysed for allele-specific effects on gene expression using luciferase reporter assay.\n\nPR3-ANCA+ AAV was significantly associated with two independent loci in the HLA-DPB1/HLA-DPA1 region [rs1042335, P = 6.3 \u00d7 10-61, odds ratio (OR) 0.10; rs9277341, P = 1.5 \u00d7 10-44, OR 0.22] and with rs28929474 in the SERPINA1 gene (P = 2.7 \u00d7 10-10, OR 2.9). MPO-ANCA+ AAV was significantly associated with the HLA-DQB1/HLA-DQA2 locus (rs9274619, P = 5.4 \u00d7 10-25, OR 3.7) and with a rare variant in the BACH2 gene (rs78275221, P = 7.9 \u00d7 10-7, OR 3.0), the latter a novel susceptibility locus for MPO-ANCA+ granulomatosis with polyangiitis/microscopic polyangiitis. The rs78275221-A risk allele reduced luciferase gene expression in endothelial cells, specifically, as compared with the non-risk allele.\n\nWe identified a novel susceptibility locus for MPO-ANCA+ AAV and propose that the associated variant is of mechanistic importance, exerting a regulatory function on gene expression in specific cell types.", "doi": "10.1093/rheumatology/keab912", "pmid": "34888651", "labels": {"Bioinformatics Long-term Support WABI": "Collaborative", "Bioinformatics Support, Infrastructure and Training": "Collaborative", "NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI Short read": "Service", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC9348767"}, {"db": "pii", "key": "6458341"}], "notes": [], "created": "2021-12-16T12:04:03.431Z", "modified": "2024-01-16T13:48:35.466Z"}, {"entity": "publication", "iuid": "e11abdff9c1e4dc2bb809825671d8520", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e11abdff9c1e4dc2bb809825671d8520.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e11abdff9c1e4dc2bb809825671d8520"}}, "title": "Pulmonary fibrosis in relation to genetic loci in an inception cohort of patients with early rheumatoid arthritis from northern Sweden.", "authors": [{"family": "J\u00f6nsson", "given": "Elias", "initials": "E"}, {"family": "Ljung", "given": "Lotta", "initials": "L", "orcid": "0000-0001-8999-0925", "researcher": {"href": "https://publications.scilifelab.se/researcher/ad0a3f26e6a64fa9b42d4c4dbcd9a2f6.json"}}, {"family": "Norrman", "given": "Eva", "initials": "E"}, {"family": "Freyhult", "given": "Eva", "initials": "E", "orcid": "0000-0003-0226-1047", "researcher": {"href": "https://publications.scilifelab.se/researcher/be110f11a53d4dcfa3bfd1657167895e.json"}}, {"family": "\u00c4rlestig", "given": "Lisbeth", "initials": "L", "orcid": "0000-0003-3965-9403", "researcher": {"href": "https://publications.scilifelab.se/researcher/a567edc80e1b476385b9bc2d3c3994f2.json"}}, {"family": "Dahlqvist", "given": "Johanna", "initials": "J", "orcid": "0000-0002-6283-644X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8fb2ab2d83b6437f9918f330e5fb81b2.json"}}, {"family": "Dahlqvist", "given": "Solbritt Rantap\u00e4\u00e4", "initials": "SR", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}], "type": "journal article", "published": "2021-05-16", "journal": {"title": "Rheumatology (Oxford)", "issn": "1462-0332", "issn-l": "1462-0324", "volume": null, "issue": null, "pages": null}, "abstract": "Pulmonary manifestations in rheumatoid arthritis (RA) are common comorbidities. Interstitial lung disease (ILD), both idiopathic and in RA has been associated with several genetic variants. We assessed pulmonary fibrosis (PF) in an inception cohort of RA patients in relation to genetic variants and disease-related factors.\n\n1466 early RA patients were consecutively included and followed prospectively from index date until death or December 31, 2016. Clinical, and laboratory data and treatment were continuously registered according to Swedish Rheumatology quality register. DNA was available from 1184 patients and 571 151 genome-wide-single-nucleotide polymorphism were analysed (GSA, Illumina, deCode, Island). Thirteen identified genetic variants were extracted. At follow-up the patients answered a questionnaire regarding disease progression and lung involvement, which was validated by reviewing medical records and analysing radiological examinations.\n\nThe prevalence of PF was 5.6%, and the annualized incidence rate was 5.0/1000 (95%CI 3.80, 6.54). Four SNPs were associated with PF in RA; rs35705950 (MUC5B), OR = 2.5 (95%CI 1.5, 4.0), adjusted p-value = 0.00016 and q-value = 0.0021, rs111521887 (TOLLIP) OR = 1.9 (95%CI 1.3, 2.8), adjusted p-value = 0.0014 and q-value = 0.0092; rs2609255 (FAM13A) (OR = 1.7 (95%CI 1.1, 2.5), adjusted p-value = 0.013 and q-value = 0.055) and rs2736100 (TERT) OR = 1.5 (1.0, 2.2), adjusted p-value = 0.046, q-value was 0.15. Older age and rheumatoid factor-positivity were associated with increased risk, whilst methotrexate treatment was associated with a lower risk of PF.\n\nDevelopment of PF in an inception cohort of RA patients was associated with four of 12 ILD risk genes. RA-related factors except for age at diagnosis and RF-positivity were of limited importance in PF development.", "doi": "10.1093/rheumatology/keab441", "pmid": "33993221", "labels": {"Bioinformatics Support and Infrastructure": "Collaborative", "Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Collaborative"}, "xrefs": [{"db": "pii", "key": "6276448"}], "notes": [], "created": "2021-05-21T10:58:27.692Z", "modified": "2024-01-16T13:48:39.749Z"}, {"entity": "publication", "iuid": "a5dc2e45a1f5491ca43a9380cf38b99a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a5dc2e45a1f5491ca43a9380cf38b99a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a5dc2e45a1f5491ca43a9380cf38b99a"}}, "title": "High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus.", "authors": [{"family": "Reid", "given": "Sarah", "initials": "S", "orcid": "0000-0003-4065-6875", "researcher": {"href": "https://publications.scilifelab.se/researcher/689ab046bc19433483d502284d2c51c4.json"}}, {"family": "Alexsson", "given": "Andrei", "initials": "A"}, {"family": "Frodlund", "given": "Martina", "initials": "M"}, {"family": "Morris", "given": "David", "initials": "D"}, {"family": "Sandling", "given": "Johanna K", "initials": "JK"}, {"family": "Bolin", "given": "Karin", "initials": "K"}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E", "orcid": "0000-0003-3396-3244", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ab5989c3c604a96bf42b1b6f90434a0.json"}}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Bengtsson", "given": "Christine", "initials": "C"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Illescas Rodriguez", "given": "Vera", "initials": "V"}, {"family": "Bengtsson", "given": "Anders", "initials": "A"}, {"family": "Arve", "given": "Sabine", "initials": "S", "orcid": "0000-0002-3347-5550", "researcher": {"href": "https://publications.scilifelab.se/researcher/b64a9ba6c7d344d0a47ef99532a347ab.json"}}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "Eloranta", "given": "Maija-Leena", "initials": "ML"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC", "orcid": "0000-0002-9681-9146", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7012e35025543379380cb90efd71243.json"}}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4dd47b8ca1436e8a26fdea33f5e7f6.json"}}, {"family": "Vyse", "given": "Timothy James", "initials": "TJ"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications.scilifelab.se/researcher/053ed3b657124a1bab3a78dc685556e6.json"}}, {"family": "Leonard", "given": "Dag", "initials": "D", "orcid": "0000-0002-6275-7282", "researcher": {"href": "https://publications.scilifelab.se/researcher/42ed25c2f495484db4757f4fef51abae.json"}}], "type": "journal article", "published": "2020-03-00", "journal": {"title": "Ann. Rheum. Dis.", "issn": "1468-2060", "issn-l": "0003-4967", "volume": "79", "issue": "3", "pages": "363-369"}, "abstract": "To investigate associations between a high genetic disease risk and disease severity in patients with systemic lupus erythematosus (SLE).\n\nPatients with SLE (n=1001, discovery cohort and n=5524, replication cohort) and healthy controls (n=2802 and n=9859) were genotyped using a 200K Immunochip single nucleotide polymorphism array. A genetic risk score (GRS) was assigned to each individual based on 57 SLE risk loci.\n\nSLE was more prevalent in the high, compared with the low, GRS-quartile (OR 12.32 (9.53 to 15.71), p=7.9\u00d710-86 and OR 7.48 (6.73 to 8.32), p=2.2\u00d710-304 for the discovery and the replication cohorts, respectively). In the discovery cohort, patients in the high GRS-quartile had a 6-year earlier mean disease onset (HR 1.47 (1.22 to 1.75), p=4.3\u00d710-5), displayed higher prevalence of damage accrual (OR 1.47 (1.06 to 2.04), p=2.0\u00d710-2), renal disorder (OR 2.22 (1.50 to 3.27), p=5.9\u00d710-5), anti-dsDNA (OR 1.83 (1.19 to 2.81), p=6.1\u00d710-3), end-stage renal disease (ESRD) (OR 5.58 (1.50 to 20.79), p=1.0\u00d710-2), proliferative nephritis (OR 2.42 (1.30 to 4.49), p=5.1\u00d710-3), anti-cardiolipin-IgG (OR 1.89 (1.13 to 3.18), p=1.6\u00d710-2), anti-\u03b22-glycoprotein-I-IgG (OR 2.29 (1.29 to 4.06), p=4.8\u00d710-3) and positive lupus anticoagulant test (OR 2.12 (1.16 to 3.89), p=1.5\u00d710-2) compared with patients in the low GRS-quartile. Survival analysis showed earlier onset of the first organ damage (HR 1.51 (1.04 to 2.25), p=3.7\u00d710-2), first cardiovascular event (HR 1.65 (1.03 to 2.64), p=2.6\u00d710-2), nephritis (HR 2.53 (1.72 to 3.71), p=9.6\u00d710-7), ESRD (HR 6.78 (1.78 to 26.86), p=6.5\u00d710-3) and decreased overall survival (HR 1.83 (1.02 to 3.30), p=4.3\u00d710-2) in high to low quartile comparison.\n\nA high GRS is associated with increased risk of organ damage, renal dysfunction and all-cause mortality. Our results indicate that genetic profiling may be useful for predicting outcomes in patients with SLE.", "doi": "10.1136/annrheumdis-2019-216227", "pmid": "31826855", "labels": {"National Genomics Infrastructure": "Collaborative", "NGI Uppsala (SNP&SEQ Technology Platform)": "Collaborative", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "annrheumdis-2019-216227"}, {"db": "pmc", "key": "PMC7034364"}], "notes": [], "created": "2019-12-18T16:32:05.276Z", "modified": "2024-01-16T13:48:42.863Z"}]}