{"entity": "publication", "iuid": "fa319bbaf75549868cacf8eddb47b6d3", "timestamp": "2026-09-30T02:26:46.284Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/fa319bbaf75549868cacf8eddb47b6d3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/fa319bbaf75549868cacf8eddb47b6d3"}}, "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-affiliated.scilifelab.se/researcher/49d9b64c2db44a2c9cab343db9bdbe69.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-affiliated.scilifelab.se/researcher/1c8c4d669b3942309a148980c1437b5d.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-affiliated.scilifelab.se/researcher/9c7625b0de5e4e3cb25a8d9f5f552924.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-affiliated.scilifelab.se/researcher/662633d0d60145d6b7dd55c903580857.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": [], "xrefs": [{"db": "pmc", "key": "PMC9348767"}, {"db": "pii", "key": "6458341"}], "notes": [], "created": "2026-09-23T11:59:07.501Z", "modified": "2026-09-23T11:59:07.623Z"}