{"entity": "researcher", "timestamp": "2026-09-30T03:00:53.540Z", "family": "Bruchfeld", "given": "Annette", "initials": "A", "orcid": "0000-0002-9752-9941", "affiliations": ["Department of Health, Medicine and Caring Sciences, Link\u00f6ping University, Link\u00f6ping.", "Department of Renal Medicine, Karolinska University Hospital and CLINTEC Karolinska Institutet, Stockholm."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/9c7625b0de5e4e3cb25a8d9f5f552924.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/9c7625b0de5e4e3cb25a8d9f5f552924"}}, "publications": [{"entity": "publication", "iuid": "c54dee5b555e42269c95faec50231a6c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/c54dee5b555e42269c95faec50231a6c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/c54dee5b555e42269c95faec50231a6c"}}, "title": "Transcriptomic Patterns in Adult and Pediatric Patients with IgA Nephropathy or IgA Vasculitis with Nephropathy.", "authors": [{"family": "Levin", "given": "Anna", "initials": "A", "orcid": "0000-0002-1299-6920", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9bd8e429485a4f369c787f2884981408.json"}}, {"family": "Schwarz", "given": "Angelina", "initials": "A", "orcid": "0009-0000-7828-9260", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a60dc95cae044439be4fe51554070353.json"}}, {"family": "van Hoef", "given": "Vincent", "initials": "V", "orcid": "0000-0003-1707-7066", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61773faec5fe4f768aee3bd9e3f9aec8.json"}}, {"family": "Wijkstr\u00f6m", "given": "Julia", "initials": "J", "orcid": "0000-0001-6183-5878", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8edece548026471f9549bdeefb6689a2.json"}}, {"family": "Bruchfeld", "given": "Annette", "initials": "A", "orcid": "0000-0002-9752-9941", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9c7625b0de5e4e3cb25a8d9f5f552924.json"}}, {"family": "Herthelius", "given": "Maria", "initials": "M", "orcid": "0000-0003-3306-2235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c01490fc012f4eb4a386f01d7e898540.json"}}, {"family": "Wennberg", "given": "Lars", "initials": "L", "orcid": "0000-0002-3313-3374", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66a14409f17846ad8f2a1a1c30f1c1e5.json"}}, {"family": "B\u00e1r\u00e1ny", "given": "Peter", "initials": "P", "orcid": "0000-0001-6501-8293", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b5c03b21d1244f1aa2606db07ad1298d.json"}}, {"family": "Witasp", "given": "Anna", "initials": "A"}, {"family": "Wernerson", "given": "Annika", "initials": "A"}], "type": "journal article", "published": "2025-12-01", "journal": {"title": "J. Am. Soc. Nephrol.", "issn": "1533-3450", "volume": "36", "issue": "12", "pages": "2392-2409", "issn-l": "1046-6673"}, "abstract": "Inflammation and immune response pathways were enriched in IgA nephropathy/IgA vasculitis with nephropathy compared with living donors. The transcriptomic profile differed significantly between adults and children with the disease.\n\nDisease manifestations and progression of IgA nephropathy vary widely between individuals, particularly between children and adults. To further understand these differences, we examined the transcriptional profiles in kidney biopsies from both adult and pediatric patients with IgA nephropathy or IgA vasculitis with nephropathy in relation to normal kidneys.\n\nKidney biopsies from 95 participants, 71 adults and 13 children with histopathologically verified IgA nephropathy or IgA vasculitis with nephropathy as well as 11 living donors, were microdissected into glomerular and tubulointerstitial fractions and subjected to RNA sequencing. Differential gene expression analysis was performed across groups, and functional enrichment analyses were conducted using gene ontology and Kyoto Encyclopedia of Genes and Genomes. Histopathological grading (Oxford and part of the Banff classifications) and clinical data (at time of biopsy and up to 5 years of follow-up) were analyzed in relation to normalized RNA counts.\n\nDifferentially expressed genes obtained from all patients versus living donors, both glomerular and tubulointerstitial fractions, were enriched for immune system and complement activation pathways. When comparing adults with children within the IgA nephropathy/IgA vasculitis with nephropathy group, 5562 and 3539 differentially expressed genes in each fraction were identified, which were enriched in pathways related to the endoplasmic reticulum and mitochondrial activity (glomeruli), as well as T-cell activation (tubulointerstitium).\n\nDistinct transcriptional profiles with enrichment of inflammation and immune response pathways were revealed in patients compared with living donors. However, the transcriptomic signatures across adult and pediatric patients were not consistent, highlighting differences in pathways involved in endoplasmic reticular, mitochondrial, and T-cell activity.\n\nThis article contains a podcast at https://dts.podtrac.com/redirect.mp3/www.asn-online.org/media/podcast/JASN/2025_09_10_ASN0000000787.mp3", "doi": "10.1681/ASN.0000000787", "pmid": "40591410", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12677832"}, {"db": "pii", "key": "00001751-202512000-00010"}], "notes": [], "created": "2026-09-23T12:32:52.581Z", "modified": "2026-09-23T12:32:52.897Z"}, {"entity": "publication", "iuid": "95b9809ffd0948fd86cffb60b5f285d9", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/95b9809ffd0948fd86cffb60b5f285d9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/95b9809ffd0948fd86cffb60b5f285d9"}}, "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-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": "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-affiliated.scilifelab.se/researcher/49d9b64c2db44a2c9cab343db9bdbe69.json"}}], "type": "journal article", "published": "2023-09-01", "journal": {"title": "Rheumatology (Oxford)", "issn": "1462-0332", "volume": "62", "issue": "9", "pages": "3213-3218", "issn-l": "1462-0324"}, "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": [], "xrefs": [{"db": "pmc", "key": "PMC10473270"}, {"db": "pii", "key": "7099616"}], "notes": [], "created": "2026-09-23T12:14:04.015Z", "modified": "2026-09-23T12:14:04.080Z"}, {"entity": "publication", "iuid": "fa319bbaf75549868cacf8eddb47b6d3", "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"}]}