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  • Bolin, Karin,1982-Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Uppsala University (author)

Variants in BANK1 are associated with lupus nephritis

  • BookEnglish

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  • LIBRIS-ID:oai:DiVA.org:uu-404506
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-404506URI

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  • Language:English
  • Summary in:English

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  • Subject category:vet swepub-contenttype
  • Subject category:ovr swepub-publicationtype

Notes

  • Background: Lupus nephritis (LN) is a cause of significant morbidity in SLE. While the genetic background to SLE has been well characterized, less is known about genes predisposing to LN.Methods: The study consisted of 2886 SLE patients, including 947 (33%) with LN. The discovery cohort (Sweden, n=1091) and replication cohort 1 (US, n=962) were genotyped on the Immunochip and replication cohort 2 (Norway/Denmark, n=833) on a custom array chip. Allele frequencies were compared between patients with LN, proliferative nephritis, end-stage renal disease and LN negative patients. SNPs with p-value <0.001 in the discovery cohort were analyzed in replication cohort 1. Ten SNPs associated with LN in the discovery cohort (p<0.0002) were genotyped in replication cohort 2. DNA methylation data were available for 180 LN patients from the discovery cohort.Results: In the discovery cohort, six gene loci were associated with LN (p<1x10-4, NFKBIA, CACNA1S, ITGA1, BANK1, OR2Y and PHCA). SNPs in BANK1 showed the strongest association with LN in replication cohort 1 (p=9.5x10-4), with a tendency for an association in replication cohort 2 (p=0.052). In a meta-analysis of all three cohorts the association between LN and BANK1 rs4699259, was strengthened (p=1.7x10‑7). There were no associations to proliferative nephritis or ESRD in the meta-analysis. Methylation quantitative trait loci (MeQTL) effects between a CpG site and several SNPs in BANK1 were identified.Conclusion: Genetic variations in BANK1 are associated with LN. There is evidence for genetic regulation of DNA methylation within the BANK1 locus, however, the exact role of BANK1 in LN pathogenesis remains to be elucidated.

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  • Leonard, Dag,1975-Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)dagle338 (author)
  • Sandling, Johanna K.Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Reumatologi,Molekylär epidemiologi(Swepub:uu)josan062 (author)
  • Imgenberg-Kreuz, JulianaUppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för immunologi, genetik och patologi,Molekylär medicin,Reumatologi(Swepub:uu)julim920 (author)
  • Alexsson, AndreiUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)andax639 (author)
  • Pucholt, PascalUppsala universitet,Reumatologi(Swepub:uu)paspu920 (author)
  • Loberg Haarhaus, MalenaDepartment of Medicine, Karolinska Institutet, Stockholm, Sweden (author)
  • Almlöf, Jonas CarlssonUppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab(Swepub:uu)jonca820 (author)
  • Nititham, JoanneRussell/Engleman Rheumatology Research Center, Department of Medicine, University of California San Francisco, San Francisco, United States of America (author)
  • Jönsen, AndreasDepartment of Rheumatology, Lund University, Lund, Sweden (author)
  • Sjöwall, Christopherepartment of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden (author)
  • Bengtsson, Anders ADepartment of Rheumatology, Lund University, Lund, Sweden (author)
  • Rantapää-Dahlqvist, SolbrittDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden (author)
  • Svenungsson, ElisabetDepartment of Medicine, Karolinska Institutet, Stockholm, Sweden (author)
  • Gunnarsson, IvaDepartment of Medicine, Karolinska Institutet, Stockholm, Sweden (author)
  • Syvänen, Ann-Christine,1950-Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Molekylär epidemiologi(Swepub:uu)anncsyva (author)
  • Lerang, KarolineDepartment of Rheumatology, University of Oslo, Oslo, Norway (author)
  • Troldborg, AnneDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark (author)
  • Voss, AnneDepartment of Rheumatology, Odense University Hospital, Odense, Denmark (author)
  • Molberg, ØyvindDepartment of Rheumatology, University of Oslo, Oslo, Norway (author)
  • Jacobsen, SørenDepartment of Clinical Medicine, Copenhagen University Hospital, Copenhagen, Denmark (author)
  • Criswell, LindseyRussell/Engleman Rheumatology Research Center, Department of Medicine, University of California San Francisco, San Francisco, United States of America (author)
  • Rönnblom, LarsUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)larsronn (author)
  • Nordmark, GunnelUppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab(Swepub:uu)gunnnord (author)
  • Uppsala universitetReumatologi (creator_code:org_t)

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