Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis
Lupus nephritis is a cause of significant morbidity in systemic lupus erythematosus (SLE) and its genetic background has not been completely clarified. The aim of this investigation was to analyze single nucleotide polymorphisms (SNPs) for association with lupus nephritis, its severe form proliferat...
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| Veröffentlicht in: | PloS one 2013-12, Vol.8 (12), p.e84450-e84450 |
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| creator | Bolin, Karin Sandling, Johanna K Zickert, Agneta Jönsen, Andreas Sjöwall, Christopher Svenungsson, Elisabet Bengtsson, Anders A Eloranta, Maija-Leena Rönnblom, Lars Syvänen, Ann-Christine Gunnarsson, Iva Nordmark, Gunnel |
| description | Lupus nephritis is a cause of significant morbidity in systemic lupus erythematosus (SLE) and its genetic background has not been completely clarified. The aim of this investigation was to analyze single nucleotide polymorphisms (SNPs) for association with lupus nephritis, its severe form proliferative nephritis and renal outcome, in two Swedish cohorts. Cohort I (n = 567 SLE cases, n = 512 controls) was previously genotyped for 5676 SNPs and cohort II (n = 145 SLE cases, n = 619 controls) was genotyped for SNPs in STAT4, IRF5, TNIP1 and BLK. Case-control and case-only association analyses for patients with lupus nephritis, proliferative nephritis and severe renal insufficiency were performed. In the case-control analysis of cohort I, four highly linked SNPs in STAT4 were associated with lupus nephritis with genome wide significance with p = 3.7 × 10(-9), OR 2.20 for the best SNP rs11889341. Strong signals of association between IRF5 and an HLA-DR3 SNP marker were also detected in the lupus nephritis case versus healthy control analysis (p |
| doi_str_mv | 10.1371/journal.pone.0084450 |
| format | Article |
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The aim of this investigation was to analyze single nucleotide polymorphisms (SNPs) for association with lupus nephritis, its severe form proliferative nephritis and renal outcome, in two Swedish cohorts. Cohort I (n = 567 SLE cases, n = 512 controls) was previously genotyped for 5676 SNPs and cohort II (n = 145 SLE cases, n = 619 controls) was genotyped for SNPs in STAT4, IRF5, TNIP1 and BLK. Case-control and case-only association analyses for patients with lupus nephritis, proliferative nephritis and severe renal insufficiency were performed. In the case-control analysis of cohort I, four highly linked SNPs in STAT4 were associated with lupus nephritis with genome wide significance with p = 3.7 × 10(-9), OR 2.20 for the best SNP rs11889341. Strong signals of association between IRF5 and an HLA-DR3 SNP marker were also detected in the lupus nephritis case versus healthy control analysis (p <0.0001). An additional six genes showed an association with lupus nephritis with p <0.001 (PMS2, TNIP1, CARD11, ITGAM, BLK and IRAK1). In the case-only meta-analysis of the two cohorts, the STAT4 SNP rs7582694 was associated with severe renal insufficiency with p = 1.6 × 10(-3) and OR 2.22. We conclude that genetic variations in STAT4 predispose to lupus nephritis and a worse outcome with severe renal insufficiency.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0084450</identifier><identifier>PMID: 24386384</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Analysis ; Arthritis ; Autoimmune diseases ; Biology ; Biopsy ; Blood & organ donations ; Case-Control Studies ; Chromosomes ; Chronic conditions ; Clinical Medicine ; Consent ; Ethics ; Female ; Gangrene ; Genes ; Genetic aspects ; Genetic diversity ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genomes ; Histocompatibility antigen HLA ; Histopathology ; Hospitals ; Humans ; IRAK protein ; Kidney diseases ; Kidney failure ; Kidneys ; Klinisk medicin ; Laboratories ; Lupus ; Lupus nephritis ; Lupus Nephritis - complications ; Lupus Nephritis - genetics ; Lymphoma ; Male ; Medical and Health Sciences ; MEDICIN ; Medicin och hälsovetenskap ; MEDICINE ; Meta-analysis ; Morbidity ; Mutation ; Nephritis ; Patients ; Polymorphism ; Polymorphism, Single Nucleotide ; Population ; Proliferative kidney disease ; Proteins ; Renal insufficiency ; Renal Insufficiency, Chronic - etiology ; Renal Insufficiency, Chronic - genetics ; Reumatologi och inflammation ; Rheumatology ; Rheumatology and Autoimmunity ; Science ; Severity of Illness Index ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Stat4 protein ; STAT4 Transcription Factor - genetics ; Studies ; Systemic lupus erythematosus ; Tumor necrosis factor-TNF ; White people</subject><ispartof>PloS one, 2013-12, Vol.8 (12), p.e84450-e84450</ispartof><rights>COPYRIGHT 2013 Public Library of Science</rights><rights>2013 Bolin et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2013 Bolin et al 2013 Bolin et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c874t-7e33c03ed891efb01fb0ab69357f44e3988c09e5e7eb632ee44a699079a9bdd83</citedby><cites>FETCH-LOGICAL-c874t-7e33c03ed891efb01fb0ab69357f44e3988c09e5e7eb632ee44a699079a9bdd83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873995/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873995/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,550,723,776,780,860,881,2095,2914,23846,27903,27904,53769,53771,79346,79347</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24386384$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-103872$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttps://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-216284$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttps://lup.lub.lu.se/record/4292171$$DView record from Swedish Publication Index$$Hfree_for_read</backlink><backlink>$$Uhttp://kipublications.ki.se/Default.aspx?queryparsed=id:128046387$$DView record from Swedish Publication Index$$Hfree_for_read</backlink></links><search><contributor>Kronenberg, Florian</contributor><creatorcontrib>Bolin, Karin</creatorcontrib><creatorcontrib>Sandling, Johanna K</creatorcontrib><creatorcontrib>Zickert, Agneta</creatorcontrib><creatorcontrib>Jönsen, Andreas</creatorcontrib><creatorcontrib>Sjöwall, Christopher</creatorcontrib><creatorcontrib>Svenungsson, Elisabet</creatorcontrib><creatorcontrib>Bengtsson, Anders A</creatorcontrib><creatorcontrib>Eloranta, Maija-Leena</creatorcontrib><creatorcontrib>Rönnblom, Lars</creatorcontrib><creatorcontrib>Syvänen, Ann-Christine</creatorcontrib><creatorcontrib>Gunnarsson, Iva</creatorcontrib><creatorcontrib>Nordmark, Gunnel</creatorcontrib><title>Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Lupus nephritis is a cause of significant morbidity in systemic lupus erythematosus (SLE) and its genetic background has not been completely clarified. The aim of this investigation was to analyze single nucleotide polymorphisms (SNPs) for association with lupus nephritis, its severe form proliferative nephritis and renal outcome, in two Swedish cohorts. Cohort I (n = 567 SLE cases, n = 512 controls) was previously genotyped for 5676 SNPs and cohort II (n = 145 SLE cases, n = 619 controls) was genotyped for SNPs in STAT4, IRF5, TNIP1 and BLK. Case-control and case-only association analyses for patients with lupus nephritis, proliferative nephritis and severe renal insufficiency were performed. In the case-control analysis of cohort I, four highly linked SNPs in STAT4 were associated with lupus nephritis with genome wide significance with p = 3.7 × 10(-9), OR 2.20 for the best SNP rs11889341. Strong signals of association between IRF5 and an HLA-DR3 SNP marker were also detected in the lupus nephritis case versus healthy control analysis (p <0.0001). An additional six genes showed an association with lupus nephritis with p <0.001 (PMS2, TNIP1, CARD11, ITGAM, BLK and IRAK1). In the case-only meta-analysis of the two cohorts, the STAT4 SNP rs7582694 was associated with severe renal insufficiency with p = 1.6 × 10(-3) and OR 2.22. We conclude that genetic variations in STAT4 predispose to lupus nephritis and a worse outcome with severe renal insufficiency.</description><subject>Adult</subject><subject>Analysis</subject><subject>Arthritis</subject><subject>Autoimmune diseases</subject><subject>Biology</subject><subject>Biopsy</subject><subject>Blood & organ donations</subject><subject>Case-Control Studies</subject><subject>Chromosomes</subject><subject>Chronic conditions</subject><subject>Clinical Medicine</subject><subject>Consent</subject><subject>Ethics</subject><subject>Female</subject><subject>Gangrene</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic diversity</subject><subject>Genetic Predisposition to Disease</subject><subject>Genome-Wide Association Study</subject><subject>Genomes</subject><subject>Histocompatibility antigen HLA</subject><subject>Histopathology</subject><subject>Hospitals</subject><subject>Humans</subject><subject>IRAK protein</subject><subject>Kidney diseases</subject><subject>Kidney failure</subject><subject>Kidneys</subject><subject>Klinisk medicin</subject><subject>Laboratories</subject><subject>Lupus</subject><subject>Lupus nephritis</subject><subject>Lupus Nephritis - complications</subject><subject>Lupus Nephritis - genetics</subject><subject>Lymphoma</subject><subject>Male</subject><subject>Medical and Health Sciences</subject><subject>MEDICIN</subject><subject>Medicin och hälsovetenskap</subject><subject>MEDICINE</subject><subject>Meta-analysis</subject><subject>Morbidity</subject><subject>Mutation</subject><subject>Nephritis</subject><subject>Patients</subject><subject>Polymorphism</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population</subject><subject>Proliferative kidney disease</subject><subject>Proteins</subject><subject>Renal insufficiency</subject><subject>Renal Insufficiency, Chronic - etiology</subject><subject>Renal Insufficiency, Chronic - genetics</subject><subject>Reumatologi och inflammation</subject><subject>Rheumatology</subject><subject>Rheumatology and Autoimmunity</subject><subject>Science</subject><subject>Severity of Illness Index</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Stat4 protein</subject><subject>STAT4 Transcription Factor - genetics</subject><subject>Studies</subject><subject>Systemic lupus erythematosus</subject><subject>Tumor necrosis factor-TNF</subject><subject>White 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of STAT4 polymorphism with severe renal insufficiency in lupus nephritis</title><author>Bolin, Karin ; Sandling, Johanna K ; Zickert, Agneta ; Jönsen, Andreas ; Sjöwall, Christopher ; Svenungsson, Elisabet ; Bengtsson, Anders A ; Eloranta, Maija-Leena ; Rönnblom, Lars ; Syvänen, Ann-Christine ; Gunnarsson, Iva ; Nordmark, Gunnel</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c874t-7e33c03ed891efb01fb0ab69357f44e3988c09e5e7eb632ee44a699079a9bdd83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adult</topic><topic>Analysis</topic><topic>Arthritis</topic><topic>Autoimmune diseases</topic><topic>Biology</topic><topic>Biopsy</topic><topic>Blood & organ donations</topic><topic>Case-Control Studies</topic><topic>Chromosomes</topic><topic>Chronic conditions</topic><topic>Clinical Medicine</topic><topic>Consent</topic><topic>Ethics</topic><topic>Female</topic><topic>Gangrene</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Genetic diversity</topic><topic>Genetic Predisposition to Disease</topic><topic>Genome-Wide Association Study</topic><topic>Genomes</topic><topic>Histocompatibility antigen HLA</topic><topic>Histopathology</topic><topic>Hospitals</topic><topic>Humans</topic><topic>IRAK protein</topic><topic>Kidney diseases</topic><topic>Kidney failure</topic><topic>Kidneys</topic><topic>Klinisk medicin</topic><topic>Laboratories</topic><topic>Lupus</topic><topic>Lupus nephritis</topic><topic>Lupus Nephritis - complications</topic><topic>Lupus Nephritis - genetics</topic><topic>Lymphoma</topic><topic>Male</topic><topic>Medical and Health Sciences</topic><topic>MEDICIN</topic><topic>Medicin och 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Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Bolin, Karin</au><au>Sandling, Johanna K</au><au>Zickert, Agneta</au><au>Jönsen, Andreas</au><au>Sjöwall, Christopher</au><au>Svenungsson, Elisabet</au><au>Bengtsson, Anders A</au><au>Eloranta, Maija-Leena</au><au>Rönnblom, Lars</au><au>Syvänen, Ann-Christine</au><au>Gunnarsson, Iva</au><au>Nordmark, Gunnel</au><au>Kronenberg, Florian</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2013-12-27</date><risdate>2013</risdate><volume>8</volume><issue>12</issue><spage>e84450</spage><epage>e84450</epage><pages>e84450-e84450</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Lupus nephritis is a cause of significant morbidity in systemic lupus erythematosus (SLE) and its genetic background has not been completely clarified. The aim of this investigation was to analyze single nucleotide polymorphisms (SNPs) for association with lupus nephritis, its severe form proliferative nephritis and renal outcome, in two Swedish cohorts. Cohort I (n = 567 SLE cases, n = 512 controls) was previously genotyped for 5676 SNPs and cohort II (n = 145 SLE cases, n = 619 controls) was genotyped for SNPs in STAT4, IRF5, TNIP1 and BLK. Case-control and case-only association analyses for patients with lupus nephritis, proliferative nephritis and severe renal insufficiency were performed. In the case-control analysis of cohort I, four highly linked SNPs in STAT4 were associated with lupus nephritis with genome wide significance with p = 3.7 × 10(-9), OR 2.20 for the best SNP rs11889341. Strong signals of association between IRF5 and an HLA-DR3 SNP marker were also detected in the lupus nephritis case versus healthy control analysis (p <0.0001). An additional six genes showed an association with lupus nephritis with p <0.001 (PMS2, TNIP1, CARD11, ITGAM, BLK and IRAK1). In the case-only meta-analysis of the two cohorts, the STAT4 SNP rs7582694 was associated with severe renal insufficiency with p = 1.6 × 10(-3) and OR 2.22. We conclude that genetic variations in STAT4 predispose to lupus nephritis and a worse outcome with severe renal insufficiency.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24386384</pmid><doi>10.1371/journal.pone.0084450</doi><tpages>e84450</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2013-12, Vol.8 (12), p.e84450-e84450 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1471046011 |
| source | MEDLINE; Directory of Open Access Journals; SWEPUB Freely available online; Public Library of Science; PubMed Central; Free Full-Text Journals in Chemistry; EZB Electronic Journals Library |
| subjects | Adult Analysis Arthritis Autoimmune diseases Biology Biopsy Blood & organ donations Case-Control Studies Chromosomes Chronic conditions Clinical Medicine Consent Ethics Female Gangrene Genes Genetic aspects Genetic diversity Genetic Predisposition to Disease Genome-Wide Association Study Genomes Histocompatibility antigen HLA Histopathology Hospitals Humans IRAK protein Kidney diseases Kidney failure Kidneys Klinisk medicin Laboratories Lupus Lupus nephritis Lupus Nephritis - complications Lupus Nephritis - genetics Lymphoma Male Medical and Health Sciences MEDICIN Medicin och hälsovetenskap MEDICINE Meta-analysis Morbidity Mutation Nephritis Patients Polymorphism Polymorphism, Single Nucleotide Population Proliferative kidney disease Proteins Renal insufficiency Renal Insufficiency, Chronic - etiology Renal Insufficiency, Chronic - genetics Reumatologi och inflammation Rheumatology Rheumatology and Autoimmunity Science Severity of Illness Index Single nucleotide polymorphisms Single-nucleotide polymorphism Stat4 protein STAT4 Transcription Factor - genetics Studies Systemic lupus erythematosus Tumor necrosis factor-TNF White people |
| title | Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis |
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