{"entity": "publication", "iuid": "d60eb3bb8c57447d9275527b577e1786", "timestamp": "2026-09-23T15:19:38.245Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d60eb3bb8c57447d9275527b577e1786.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d60eb3bb8c57447d9275527b577e1786"}}, "title": "Variants in BANK1 are associated with lupus nephritis of European ancestry.", "authors": [{"family": "Bolin", "given": "Karin", "initials": "K"}, {"family": "Imgenberg-Kreuz", "given": "Juliana", "initials": "J"}, {"family": "Leonard", "given": "Dag", "initials": "D"}, {"family": "Sandling", "given": "Johanna K", "initials": "JK"}, {"family": "Alexsson", "given": "Andrei", "initials": "A"}, {"family": "Pucholt", "given": "Pascal", "initials": "P", "orcid": "0000-0003-3342-1373", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b8d564c4e36f451f9b78f563c9e8fa07.json"}}, {"family": "Haarhaus", "given": "Malena Loberg", "initials": "ML"}, {"family": "Alml\u00f6f", "given": "Jonas Carlsson", "initials": "JC"}, {"family": "Nititham", "given": "Joanne", "initials": "J"}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9fcc24622ec440bac6996072cceea0e.json"}}, {"family": "Bengtsson", "given": "Anders A", "initials": "AA"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S"}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E"}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Lerang", "given": "Karoline", "initials": "K"}, {"family": "Troldborg", "given": "Anne", "initials": "A"}, {"family": "Voss", "given": "Anne", "initials": "A"}, {"family": "Molberg", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Jacobsen", "given": "S\u00f8ren", "initials": "S"}, {"family": "Criswell", "given": "Lindsey", "initials": "L"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f7ec7a7befd44cc988091ba0858d3c0.json"}}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f618934952594d76a747bcbe2c27bbf2.json"}}], "type": "journal article", "published": "2021-07-00", "journal": {"title": "Genes Immun.", "issn": "1476-5470", "volume": "22", "issue": "3", "pages": "194-202", "issn-l": "1466-4879"}, "abstract": "The genetic background of lupus nephritis (LN) has not been completely elucidated. We performed a case-only study of 2886 SLE patients, including 947 (33%) with LN. Renal biopsies were available from 396 patients. The discovery cohort (Sweden, n = 1091) and replication cohort 1 (US, n = 962) were genotyped on the Immunochip and replication cohort 2 (Denmark/Norway, n = 833) on a custom array. Patients with LN, proliferative nephritis, or LN with end-stage renal disease were compared with SLE without nephritis. Six loci were associated with LN (p < 1 \u00d7 10-4, NFKBIA, CACNA1S, ITGA1, BANK1, OR2Y, and ACER3) in the discovery cohort. Variants in BANK1 showed the strongest association with LN in replication cohort 1 (p = 9.5 \u00d7 10-4) and proliferative nephritis in a meta-analysis of discovery and replication cohort 1. There was a weak association between BANK1 and LN in replication cohort 2 (p = 0.052), and in the meta-analysis of all three cohorts the association was strengthened (p = 2.2 \u00d7 10-7). DNA methylation data in 180 LN patients demonstrated methylation quantitative trait loci (meQTL) effects between a CpG site and BANK1 variants. To conclude, we describe genetic variations in BANK1 associated with LN and evidence for genetic regulation of DNA methylation within the BANK1 locus. This indicates a role for BANK1 in LN pathogenesis.", "doi": "10.1038/s41435-021-00142-8", "pmid": "34127828", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8277572"}, {"db": "pii", "key": "10.1038/s41435-021-00142-8"}], "notes": [], "created": "2026-09-23T11:03:09.070Z", "modified": "2026-09-23T11:03:09.157Z"}