ArticleAmerican journal of human genetics2015
Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression.
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Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
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26citing papers in PubMed, 3 pooled it
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Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- The Genomics/Genetics of Primary Biliary Cholangitis: The Case for a Functional SNP rs10893900 in ETS1/FLI1 and Review of the Literature.Clinical reviews in allergy & immunology · 2025Pooled it
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Replication and meta-analyses nominate numerous eosinophilic esophagitis risk genes.The Journal of allergy and clinical immunology · 2021Pooled it
- A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.Human molecular genetics · 2018Trial
- Association of ETS1 polymorphism with granulomatosis with polyangiitis and proteinase 3-anti-neutrophil cytoplasmic antibody positive vasculitis in a Japanese population.Journal of human genetics · 2018Trial
- Article
- Review
- Global discovery of lupus genetic risk variant allelic enhancer activity.Nature communications · 2021Article
- Autoimmunity and organ damage in systemic lupus erythematosus.Nature immunology · 2020Review
- Enhancer deletion and allelic effects define a regulatory molecular mechanism at the VLDLR cholesterol GWAS locus.Human molecular genetics · 2019Article
- The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.Current rheumatology reports · 2019Review
- MicroRNA-326 Upregulates B Cell Activity and Autoantibody Production in Lupus Disease of MRL/lpr Mice.Molecular therapy. Nucleic acids · 2018Article
- Abnormal B Cell Development in Systemic Lupus Erythematosus: What the Genetics Tell Us.Arthritis & rheumatology (Hoboken, N.J.) · 2018Review
- Plasma Cell Differentiation Pathways in Systemic Lupus Erythematosus.Frontiers in immunology · 2018Review
- Sex Differences in Correlation with Gene Expression Levels betweenJournal of immunology research · 2018Article
- Updates in Lupus Genetics.Current rheumatology reports · 2017Review
- Dense Genotyping of Immune-Related Regions Identifies Loci for Rheumatoid Arthritis Risk and Damage in African Americans.Molecular medicine (Cambridge, Mass.) · 2017Article
- Genetic-epigenetic interactions in cis: a major focus in the post-GWAS era.Genome biology · 2017Review
- The Immune Response and the Pathogenesis of Idiopathic Inflammatory Myositis: a Critical Review.Clinical reviews in allergy & immunology · 2017Review
- Identification of dysregulated genes in rheumatoid arthritis based on bioinformatics analysis.PeerJ · 2017Article
Corrections and comments
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Authors and funding
46 authors at 20 institutions in 7 countries.
Xiaoming LuImmunology Graduate Program, College of Medicine, University of Cincinnati, Cincinnati, OH 45229, USA; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Erin E ZollerCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Matthew T WeirauchCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Divisions of Biomedical Informatics and Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Zhiguo WuDivision of Immunobiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Bahram NamjouCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Adrienne H WilliamsCenter for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC 27157, USA.
Julie T ZieglerCenter for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC 27157, USA.
Mary E ComeauCenter for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC 27157, USA.
Miranda C MarionCenter for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC 27157, USA.
Stuart B GlennArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Adam AdlerArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Nan ShenCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Joint Molecular Rheumatology Laboratory, Institute of Health Sciences and Shanghai Renji Hospital, Shanghai Jiao Tong University School of Medicine in collaboration with Shanghai Institutes for Biological Sciences and Chinese Academy of Sciences, Shanghai 200031, PRC.
Swapan K NathArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Anne M StevensCenter for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA 98101, USA; Division of Rheumatology, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Barry I FreedmanSection on Nephrology, Department of Internal Medicine, Wake Forest School of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC 27157, USA.
Betty P TsaoDivision of Rheumatology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, 90095, USA.
Chaim O JacobDepartment of Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Diane L KamenDivision of Rheumatology, Medical University of South Carolina, Charleston, SC 29425, USA.
Elizabeth E BrownDivision of Molecular and Cellular Pathology, Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35294, USA; Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Gary S GilkesonDivision of Rheumatology, Medical University of South Carolina, Charleston, SC 29425, USA.
Graciela S AlarcónDepartment of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
John D ReveilleRheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
Juan-Manuel AnayaCenter for Autoimmune Diseases Research, Universidad del Rosario, 110010 Bogota, Colombia.
Judith A JamesArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Kathy L SivilsArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Lindsey A CriswellRosalind Russell / Ephraim P. Engleman Rheumatology Research Center, Department of Medicine, University of California, San Francisco, San Francisco, CA 94117, USA.
Luis M ViláDivision of Rheumatology, Department of Medicine, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PR 00936, USA.
Marta E Alarcón-RiquelmeArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Center for Genomics and Oncological Research, Pfizer-University of Granada-Junta de Andalucia, Granada 18016, Spain.
Michelle PetriDepartment of Medicine, School of Medicine, Johns Hopkins University, Baltimore, MD 21224, USA.
R Hal ScofieldArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Oklahoma City Veterans Affairs Medical Center, Oklahoma City, OK 73104, USA.
Robert P KimberlyDepartment of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Rosalind Ramsey-GoldmanDivision of Rheumatology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Young Bin JooDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-792, Korea.
Jeongim ChoiDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-792, Korea.
Sang-Cheol BaeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-792, Korea.
Susan A BoackleDivision of Rheumatology, School of Medicine, University of Colorado, Aurora, CO 80045, USA.
Deborah Cunninghame GrahamDivisions of Genetics and Molecular Medicine and Immunology, King's College London, Strand, London WC2R 2LS, UK.
Timothy J VyseDivisions of Genetics and Molecular Medicine and Immunology, King's College London, Strand, London WC2R 2LS, UK.
Joel M GuthridgeArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Patrick M GaffneyArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Carl D LangefeldCenter for Public Health Genomics and Department of Biostatistical Sciences, Wake Forest School of Medicine, Wake Forest Baptist Medical Center, Winston-Salem, NC 27157, USA.
Jennifer A KellyArthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Kenneth D GreisCancer Biology, University of Cincinnati Medical Center, Cincinnati, OH 45267, USA.
Kenneth M KaufmanCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Cincinnati Veterans Affairs Medical Center, Cincinnati, OH 45220, USA.
John B HarleyCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Cincinnati Veterans Affairs Medical Center, Cincinnati, OH 45220, USA.
Leah C KottyanCenter for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Cincinnati Veterans Affairs Medical Center, Cincinnati, OH 45220, USA. Electronic address: leah.kottyan@cchmc.org.
Cincinnati Children's Hospital Medical Center · USOklahoma Medical Research Foundation · USAtrium Health Wake Forest Baptist · USHanyang University Seoul Hospital · KRUniversity of Alabama at Birmingham · USKing's College London · GBMedical University of South Carolina · USUniversity of Oklahoma Health Sciences Center · USJohns Hopkins Medicine · USNorthwestern University · USPfizer-University of Granada-Junta de Andalucía Centre for Genomics and Oncological Research · ESRenji Hospital · CNThe University of Texas Health Science Center at Houston · USUniversidad del Rosario · COUniversity of California, Los Angeles · USUniversity of California, San Francisco · USUniversity of Cincinnati · USUniversity of Colorado Denver · USUniversity of Puerto Rico, Medical Sciences Campus · PRUniversity of Southern California · US
Funding
Engaging University of California Stakeholders for Biorespository ResearchUL1TR000004 · NCATS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GRANDIS, JENNIFER RUBIN · 2012 to 2015
$78.0MTracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI PAUL G SPICER · 2013 to 2026
$68.2MColorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0MLCenter for Clinical and Translational Science and TrainingUL1TR001425 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E., KISSELA, BRETT M · 2015 to 2024
$37.5MVALIDATING NOVEL GENES IMPLICATED IN LEUKOCYTE CHEMOTAXISP20RR020143 · NCRR · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KAUFMAN, KENNETH M · 2004 to 2011
$21.0MColorado Clinical and Translational Science Institute (UL1)UL1TR000154 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2012 to 2013
$20.4MProgram Project in the Genetics of SLEP01AR049084 · NIAMS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI KIMBERLY, ROBERT P. · 2002 to 2012
$12.7MThe Interplay of Sociodemographic and Genetic Factors in SLE Health DisparitiesP60AR053308 · NIAMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI YELIN, EDWARD H · 2006 to 2016
$11.8MMultidisciplinary Clinical and Translational Science (MCTS) Program (UL1)UL1TR000150 · NCATS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LLOYD-JONES, DONALD M · 2012 to 2013
$10.1MSOUTH CAROLINA CLINICAL & TRANSLATIONAL RESEARCH INSTITUTE (SCTR)UL1RR029882 · NCRR · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BRADY, KATHLEEN T. · 2009 to 2011
$10.1MCincinnati Center for Clinical and Translational Sciences and TrainingUL1TR000077 · NCATS · UNIVERSITY OF CINCINNATI · PI HEUBI, JAMES E. · 2012 to 2014
$9.9MSequencingP01AI083194 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KIMBERLY, ROBERT P. · 2009 to 2013
$9.6MNCATS NIH HHS TR000077NCATS NIH HHS UL1 TR000004NCATS NIH HHS UL1TR000004NCATS NIH HHS UL1 TR000077NCATS NIH HHS UL1 TR000150NCATS NIH HHS UL1TR000150NCATS NIH HHS UL1 TR000154NCATS NIH HHS UL1 TR001082NCATS NIH HHS UL1 TR001425NCRR NIH HHS P20 RR020143NCRR NIH HHS S10 RR027015NCRR NIH HHS S10RR027015NCRR NIH HHS S10 RR027190NCRR NIH HHS UL1 RR029882NCRR NIH HHS UL1RR029882NHGRI NIH HHS HG006828NHGRI NIH HHS U01 HG006828NHGRI NIH HHS U01HG006828NIAID NIH HHS AI024717NIAID NIH HHS AI063274NIAID NIH HHS AI082714NIAID NIH HHS AI083194NIAID NIH HHS K24 AI078004NIAID NIH HHS K24AI078004NIAID NIH HHS P01 AI083194NIAID NIH HHS R01 AI024717NIAID NIH HHS R01 AI063274NIAID NIH HHS R21 AI070304NIAID NIH HHS R21AI070304NIAID NIH HHS R37 AI024717NIAID NIH HHS R56 AI063274NIAID NIH HHS U01 AI101934NIAID NIH HHS U01AI101934NIAID NIH HHS U19 AI082714NIAID NIH HHS U19AI082714NIAMS NIH HHS AR043274NIAMS NIH HHS AR043727NIAMS NIH HHS AR043814NIAMS NIH HHS AR051545NIAMS NIH HHS AR053483NIAMS NIH HHS AR056360NIAMS NIH HHS AR057172NIAMS NIH HHS AR058959NIAMS NIH HHS AR060366NIAMS NIH HHS AR063124NIAMS NIH HHS AR065626NIAMS NIH HHS K24AR02318NIAMS NIH HHS N01 AR062277NIAMS NIH HHS P01 AR049084NIAMS NIH HHS P01AR49084NIAMS NIH HHS P30 AR053483NIAMS NIH HHS P30AR053483NIAMS NIH HHS P30AR055385NIAMS NIH HHS P50 AR048940NIAMS NIH HHS P60 AR053308NIAMS NIH HHS P60AR053308NIAMS NIH HHS P60 AR062755NIAMS NIH HHS P60AR062755NIAMS NIH HHS P60 AR064464NIAMS NIH HHS P60AR064464NIAMS NIH HHS R01 AR042460NIAMS NIH HHS R01 AR043274NIAMS NIH HHS R01 AR043727NIAMS NIH HHS R01 AR043814NIAMS NIH HHS R01 AR051545NIAMS NIH HHS R01 AR056360NIAMS NIH HHS R01 AR057172NIAMS NIH HHS R01 AR060366NIAMS NIH HHS R01 AR063124NIAMS NIH HHS R01AR44804NIAMS NIH HHS R21 AR065626NIAMS NIH HHS RC2 AR058959NIGMS NIH HHS GM103456NIGMS NIH HHS GM104938NIGMS NIH HHS P20 GM103456NIGMS NIH HHS P30 GM103510NIGMS NIH HHS P30GM103510NIGMS NIH HHS U54 GM104938NIGMS NIH HHS U54GM104938NIMHD NIH HHS MD007909NIMHD NIH HHS R01 MD007909Versus Arthritis 19289
Abstract
Genetic variants at chromosomal region 11q23.3, near the gene ETS1, have been associated with systemic lupus erythematosus (SLE), or lupus, in independent cohorts of Asian ancestry. Several recent studies have implicated ETS1 as a critical driver of immune cell function and differentiation, and mice deficient in ETS1 develop an SLE-like autoimmunity. We performed a fine-mapping study of 14,551 subjects from multi-ancestral cohorts by starting with genotyped variants and imputing to all common variants spanning ETS1. By constructing genetic models via frequentist and Bayesian association methods, we identified 16 variants that are statistically likely to be causal. We functionally assessed each of these variants on the basis of their likelihood of affecting transcription factor binding, miRNA binding, or chromatin state. Of the four variants that we experimentally examined, only rs6590330 differentially binds lysate from B cells. Using mass spectrometry, we found more binding of the transcription factor signal transducer and activator of transcription 1 (STAT1) to DNA near the risk allele of rs6590330 than near the non-risk allele. Immunoblot analysis and chromatin immunoprecipitation of pSTAT1 in B cells heterozygous for rs6590330 confirmed that the risk allele increased binding to the active form of STAT1. Analysis with expression quantitative trait loci indicated that the risk allele of rs6590330 is associated with decreased ETS1 expression in Han Chinese, but not other ancestral cohorts. We propose a model in which the risk allele of rs6590330 is associated with decreased ETS1 expression and increases SLE risk by enhancing the binding of pSTAT1.
Indexed as
Genetic Predisposition to DiseaseAllelesAnimalsAsian PeopleBayes TheoremGenotypeHaplotypesHumansLupus Erythematosus, SystemicMiceProtein BindingProto-Oncogene Protein c-ets-1STAT1 Transcription FactorETS1 protein, humanProto-Oncogene Protein c-ets-1STAT1 Transcription Factor
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