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

Variants in BANK1 are associated with lupus nephritis of European ancestry

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  • Medientyp: E-Artikel
  • Titel: Variants in BANK1 are associated with lupus nephritis of European ancestry
  • Beteiligte: Bolin, Karin; Imgenberg-Kreuz, Juliana; Leonard, Dag; Sandling, Johanna K.; Alexsson, Andrei; Pucholt, Pascal; Haarhaus, Malena Loberg; Almlöf, Jonas Carlsson; Nititham, Joanne; Jönsen, Andreas; Sjöwall, Christopher; Bengtsson, Anders A.; Rantapää-Dahlqvist, Solbritt; Svenungsson, Elisabet; Gunnarsson, Iva; Syvänen, Ann-Christine; Lerang, Karoline; Troldborg, Anne; Voss, Anne; Molberg, Øyvind; Jacobsen, Søren; Criswell, Lindsey; Rönnblom, Lars; Nordmark, Gunnel
  • Erschienen: Springer Science and Business Media LLC, 2021
  • Erschienen in: Genes & Immunity
  • Sprache: Englisch
  • DOI: 10.1038/s41435-021-00142-8
  • ISSN: 1466-4879; 1476-5470
  • Schlagwörter: Genetics (clinical) ; Genetics ; Immunology
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  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>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, <jats:italic>n</jats:italic> = 1091) and replication cohort 1 (US, <jats:italic>n</jats:italic> = 962) were genotyped on the Immunochip and replication cohort 2 (Denmark/Norway, <jats:italic>n</jats:italic> = 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 (<jats:italic>p</jats:italic> &lt; 1 × 10<jats:sup>−4</jats:sup>, <jats:italic>NFKBIA, CACNA1S</jats:italic>, <jats:italic>ITGA1</jats:italic>, <jats:italic>BANK1, OR2Y,</jats:italic> and <jats:italic>ACER3</jats:italic>) in the discovery cohort. Variants in <jats:italic>BANK1</jats:italic> showed the strongest association with LN in replication cohort 1 (<jats:italic>p</jats:italic> = 9.5 × 10<jats:sup>−4</jats:sup>) and proliferative nephritis in a meta-analysis of discovery and replication cohort 1. There was a weak association between <jats:italic>BANK1</jats:italic> and LN in replication cohort 2 (<jats:italic>p</jats:italic> = 0.052), and in the meta-analysis of all three cohorts the association was strengthened (<jats:italic>p</jats:italic> = 2.2 × 10<jats:sup>−7</jats:sup>). DNA methylation data in 180 LN patients demonstrated methylation quantitative trait loci (meQTL) effects between a CpG site and <jats:italic>BANK1</jats:italic> variants. To conclude, we describe genetic variations in <jats:italic>BANK1</jats:italic> associated with LN and evidence for genetic regulation of DNA methylation within the <jats:italic>BANK1</jats:italic> locus. This indicates a role for <jats:italic>BANK1</jats:italic> in LN pathogenesis.</jats:p>