Variants in BANK1 are associated with lupus nephritis of European ancestry

Karin Bolin, Juliana Imgenberg-Kreuz, Dag Leonard, Johanna K. Sandling, Andrei Alexsson, Pascal Pucholt, Malena Loberg Haarhaus, Jonas Carlsson Almlöf, Joanne Nititham, Andreas Jönsen, Christopher Sjöwall, Anders A. Bengtsson, Solbritt Rantapää-Dahlqvist, Elisabet Svenungsson, Iva Gunnarsson, Ann Christine Syvänen, Karoline Lerang, Anne Troldborg, Anne Voss, Øyvind MolbergSøren Jacobsen, Lindsey Criswell, Lars Rönnblom, Gunnel Nordmark

Research output: Contribution to journalArticlepeer-review


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 × 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 × 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 × 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.

Original languageEnglish
Pages (from-to)194-202
Number of pages9
JournalGenes and Immunity
Issue number3
Publication statusPublished - 2021 Jul 1

Subject classification (UKÄ)

  • Medical Genetics


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