{"entity": "researcher", "timestamp": "2026-07-14T04:13:11.731Z", "family": "Brink", "given": "Mikael", "initials": "M", "orcid": "0000-0001-7675-3488", "affiliations": ["Department of Public Health and Clinical Medicine/Rheumatology."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/ecbce4cc891249c5b96f71b6586aa777.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/ecbce4cc891249c5b96f71b6586aa777"}}, "publications": [{"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": "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"}]}