Search: onr:"swepub:oai:DiVA.org:umu-186279" > Variants in BANK1 a...
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001 | oai:DiVA.org:umu-186279 | |
003 | SwePub | |
008 | 210720s2021 | |||||||||||000 ||eng| | |
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024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-1862792 URI |
024 | 7 | a https://doi.org/10.1038/s41435-021-00142-82 DOI |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1774342 URI |
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040 | a (SwePub)umud (SwePub)liud (SwePub)lud (SwePub)uud (SwePub)ki | |
041 | a engb eng | |
042 | 9 SwePub | |
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100 | 1 | a Bolin, Karinu Uppsala universitet,Uppsala University,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper4 aut |
245 | 1 0 | a Variants in BANK1 are associated with lupus nephritis of European ancestry |
264 | c 2021-06-14 | |
264 | 1 | b Springer Nature,c 2021 |
338 | a electronic2 rdacarrier | |
500 | a Funding Agencies|Swedish Research Council for Medicine and Health [521-2014-2263, 521-2014-3954, 2016-01982, 2018-02399]; Swedish Rheumatism Association; Swedish Society for Medical Research; Swedish Society of Medicine; Ingegerd Johansson donation; King Gustav Vs 80-year Foundation; Science for Life Laboratory; Swedish Research Council (VR-RFI)Swedish Research Council; Uppsala University; Knut and Alice Wallenberg Foundation | |
520 | a 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. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Reumatologi och inflammation0 (SwePub)302102 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Rheumatology and Autoimmunity0 (SwePub)302102 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicin0 (SwePub)3022 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicine0 (SwePub)3022 hsv//eng |
700 | 1 | a Imgenberg-Kreuz, Julianau Uppsala universitet,Uppsala University,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper4 aut0 (Swepub:uu)julim920 |
700 | 1 | a Leonard, Dag,d 1975-u Uppsala universitet,Uppsala University,Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)dagle338 |
700 | 1 | a Sandling, Johanna K.u Uppsala universitet,Uppsala University,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper4 aut0 (Swepub:uu)josan062 |
700 | 1 | a Bengtsson, Anders A.u Uppsala universitet,Lund University,Lunds universitet,Uppsala University,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:lu)reum-abe |
700 | 1 | a Pucholt, Pascalu Uppsala universitet,Uppsala University,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Haarhaus, Malena Lobergu Karolinska Institute,Karolinska University Hospital4 aut |
700 | 1 | a Almlöf, Jonas Carlssonu Uppsala universitet,Uppsala University,Institutionen för medicinska vetenskaper4 aut |
700 | 1 | a Nititham, Joanneu Russell/Engleman Rheumatology Research Center, Department of Medicine, University of California San Francisco, CA, San Francisco, United States,Univ Calif San Francisco, CA 94132 USA4 aut |
700 | 1 | a Jönsen, Andreasu Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)reum-ajo |
700 | 1 | a Sjöwall, Christopheru Linköping University,Linköpings universitet,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland4 aut0 (Swepub:liu)chrsj93 |
700 | 1 | a Bengtsson, Anders A.u Department of Rheumatology, Lund University, Lund, Sweden4 aut |
700 | 1 | a Rantapää-Dahlqvist, Solbrittu Umeå University,Umeå universitet,Avdelningen för medicin,Umea Univ, Sweden4 aut0 (Swepub:umu)sora0001 |
700 | 1 | a Svenungsson, Elisabetu Karolinska Institutet,Karolinska Institute,Karolinska University Hospital4 aut |
700 | 1 | a Gunnarsson, Ivau Karolinska Institutet,Karolinska Institute,Karolinska University Hospital4 aut |
700 | 1 | a Syvänen, Ann-Christine,d 1950-u Uppsala universitet,Uppsala University,Molekylär medicin,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)anncsyva |
700 | 1 | a Lerang, Karolineu Department of Rheumatology, University of Oslo, Oslo, Norway,Univ Oslo, Norway4 aut |
700 | 1 | a Troldborg, Anneu Department of Rheumatology, Aarhus University Hospital and Department of Biomedicine, Aarhus University, Aarhus, Denmark,Aarhus Univ Hosp, Denmark; Aarhus Univ, Denmark4 aut |
700 | 1 | a Voss, Anneu Department of Rheumatology, Odense University Hospital, Odense, Denmark,Odense Univ Hosp, Denmark4 aut |
700 | 1 | a Molberg, Øyvindu Department of Rheumatology, University of Oslo, Oslo, Norway,Univ Oslo, Norway4 aut |
700 | 1 | a Jacobsen, Sørenu Department of Clinical Medicine, Copenhagen University Hospital, Copenhagen, Denmark,Copenhagen Univ Hosp, Denmark4 aut |
700 | 1 | a Criswell, Lindseyu Russell/Engleman Rheumatology Research Center, Department of Medicine, University of California San Francisco, CA, San Francisco, United States,Univ Calif San Francisco, CA 94132 USA4 aut |
700 | 1 | a Rönnblom, Larsu Uppsala universitet,Uppsala University,Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)larsronn |
700 | 1 | a Nordmark, Gunnelu Uppsala universitet,Uppsala University,Institutionen för medicinska vetenskaper,Science for Life Laboratory, SciLifeLab4 aut0 (Swepub:uu)gunnnord |
700 | 1 | a Molberg, O4 aut |
710 | 2 | a Uppsala Universityb Science for Life Laboratory, SciLifeLab4 org |
773 | 0 | t Genes and Immunityd : Springer Natureg 22:3, s. 194-202q 22:3<194-202x 1466-4879x 1476-5470 |
856 | 4 | u https://doi.org/10.1038/s41435-021-00142-8y Fulltext |
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856 | 4 | u https://www.nature.com/articles/s41435-021-00142-8.pdf |
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856 | 4 | u http://dx.doi.org/10.1038/s41435-021-00142-8x freey FULLTEXT |
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856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-186279 |
856 | 4 8 | u https://doi.org/10.1038/s41435-021-00142-8 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-177434 |
856 | 4 8 | u https://lup.lub.lu.se/record/791abca4-5954-49ea-9474-809f6a58bbd5 |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-464314 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:146837095 |
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