ArticleAmerican journal of human genetics2014
Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.
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Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 3 of them syntheses that pooled it.
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42citing papers in PubMed, 3 pooled it
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Who cites it
42 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosus.Journal of human genetics · 2020Pooled it
- B-cell lymphocyte kinase polymorphisms rs13277113, rs2736340, and rs4840568 and risk of autoimmune diseases: A meta-analysis.Medicine · 2017Pooled it
- Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.Scientific reports · 2019Trial
- Genome-wide identification and analysis of recurring patterns of epigenetic variation across individuals.Communications biology · 2025Article
- The 330 risk loci known for systemic lupus erythematosus (SLE): a review.Frontiers in lupus · 2024Article
- Modeling of horizontal pleiotropy identifies possible causal gene expression in systemic lupus erythematosus.Frontiers in lupus · 2023Article
- Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.Nature communications · 2022Article
- Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity.Nature genetics · 2022Article
- Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022Article
- Article
- Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1.Frontiers in genetics · 2022Article
- The Role of Clinical Features and Serum Biomarkers in Identifying Patients with Incomplete Lupus Erythematosus at Higher Risk of Transitioning to Systemic Lupus Erythematosus: Current Perspectives.Journal of inflammation research · 2022Review
- Review
- SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression.Nature communications · 2021Article
- Association ofFrontiers in genetics · 2020Article
- BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2019Article
- The Post-GWAS Era: How to Validate the Contribution of Gene Variants in Lupus.Current rheumatology reports · 2019Review
- High-resolution genetic mapping of putative causal interactions between regions of open chromatin.Nature genetics · 2019Article
- Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort.Scientific reports · 2018Article
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Authors and funding
51 authors.
Joel M GuthridgeArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA. Electronic address: guthridgej@omrf.org.
Rufei LuArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Harry SunImmune and Tissue Growth and Repair and Human Genetics Department, Genentech, South San Francisco, CA 94080, USA.
Celi SunArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Graham B WileyArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Nicolas DominguezArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Susan R MacwanaArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Christopher J LessardArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Xana Kim-HowardArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Beth L CobbCincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Kenneth M KaufmanCincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Cincinnati Veterans Affairs Medical Center, Cincinnati, OH 45220, USA.
Jennifer A KellyArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Carl D LangefeldDepartment of Biostatistical Sciences, Wake Forest University, Winston-Salem, NC 27106, USA.
Adam J AdlerArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Isaac T W HarleyDivision of Molecular Immunology and Graduate Program in Immunobiology, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH 45229, USA.
Joan T MerrillDepartment of Clinical Pharmacology, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Gary S GilkesonDepartment of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC 29425, USA.
Diane L KamenDepartment of Medicine, Division of Rheumatology, Medical University of South Carolina, Charleston, SC 29425, USA.
Timothy B NiewoldDivision of Rheumatology and Department of Immunology, Mayo Clinic, Rochester, MN 55902, USA.
Elizabeth E BrownDepartment of Epidemiology, University of Alabama-Birmingham, Birmingham, AL 35294, USA; Department of Medicine, University of Alabama-Birmingham, Birmingham, AL 35294, USA.
Jeffery C EdbergDivision of Clinical Immunology and Rheumatology, University of Alabama-Birmingham School of Medicine, Birmingham, AL 35294, USA.
Michelle A PetriDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Rosalind Ramsey-GoldmanDivision of Rheumatology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
John D ReveilleRheumatology and Clinical Immunogenetics, University of Texas Health Science Center at Houston, Houston, TX.77030, USA.
Luis M ViláDepartment of Medicine, Division of Rheumatology, University of Puerto Rico Medical Sciences Campus, San Juan 00921, Puerto Rico.
Robert P KimberlyDivision of Clinical Immunology and Rheumatology, University of Alabama-Birmingham School of Medicine, Birmingham, AL 35294, USA.
Barry I FreedmanDepartment of Internal Medicine, Wake Forest School of Medicine, Winston-Salem, NC 27106, USA.
Anne M StevensDivision of Rheumatology, Department of Pediatrics, University of Washington Center for Immunity and Immunotherapies, Seattle Children's Research Institute, Seattle, WA 98101, USA.
Susan A BoackleDivision of Rheumatology, University of Colorado Denver, Aurora, CO 80045, USA.
Lindsey A CriswellRosalind Russell Medical Research Center for Arthritis, University of California San Francisco, San Francisco, CA 94143, USA.
Tim J VyseDivision of Medicine, Imperial College of London, London SW7 2AZ, UK.
Timothy W BehrensImmune and Tissue Growth and Repair and Human Genetics Department, Genentech, South San Francisco, CA 94080, USA.
Chaim O JacobDepartment of Medicine, University of Southern California, Los Angeles, CA 90089, USA.
Marta E Alarcón-RiquelmeArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Centro de Genómica e Investigaciones Oncológicas (GENYO). Pfizer-Universidad de Granada-Junta de Andalucía, Granada 18016, Spain.
Kathy L SivilsArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Jiyoung ChoiDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-791, Korea.
Young Bin JooDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-791, Korea.
So-Young BangDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-791, Korea.
Hye-Soon LeeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-791, Korea.
Sang-Cheol BaeDepartment of Rheumatology, Hanyang University Hospital for Rheumatic Diseases, Seoul 133-791, Korea.
Nan ShenMolecular Rheumatology Laboratory, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Xiaoxia QianMolecular Rheumatology Laboratory, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences and Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Betty P TsaoDepartment of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA.
R Hal ScofieldArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73105, USA; United States Department of Veterans Affairs Medical Center, Oklahoma City, OK 73105, USA.
John B HarleyCincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA; Cincinnati Veterans Affairs Medical Center, Cincinnati, OH 45220, USA.
Carol F WebbImmunobiology and Cancer Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Cell Biology and Department of Microbiology and Immunology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
Edward K WakelandDepartment of Immunology, University of Texas Southwestern Medical Center, Dallas, TX 75235, USA.
Judith A JamesArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA; Department of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73105, USA.
Swapan K NathArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Robert R GrahamImmune and Tissue Growth and Repair and Human Genetics Department, Genentech, South San Francisco, CA 94080, USA.
Patrick M GaffneyArthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Funding
University of Colorado Cancer Center Support Grant - Lung Cancer Patient-Derived Xenografts with Autologous Human Immune SystemsP30CA046934 · NCI · UNIVERSITY OF COLORADO DENVER · PI James V Degregori · 1988 to 2026
$117.0MTracking and Evaluation CoreU54GM104938 · NIGMS · UNIVERSITY OF OKLAHOMA HLTH SCIENCES CTR · PI Janis E Campbell · 2013 to 2026
$68.2MInstitute for Clinical and Translational ResearchUL1TR001079 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2013 to 2017
$60.1MColorado Clinical and Translational Sciences InstituteUL1TR001082 · NCATS · UNIVERSITY OF COLORADO DENVER · PI SOKOL, RONALD J. · 2013 to 2017
$48.0MZD1839 FOR MALIGNANT ASTROCYTOMA OR GLIOBLASTOMA AND MENINGIOMAM01RR000079 · NCRR · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KESSLER, DAVID A · 1985 to 2006
$26.0MVALIDATING 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
$20.4MCenter for Clinical and Translational Sciences (CCTS)UL1TR000371 · NCATS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI MCPHERSON, DAVID D · 2012 to 2016
$13.4MProgram 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
$10.1MSequencingP01AI083194 · NIAID · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI KIMBERLY, ROBERT P. · 2009 to 2013
$9.6MBLRD VA I01 BX001834NCATS NIH HHS UL1 TR000150NCATS NIH HHS UL1 TR000154NCATS NIH HHS UL1 TR000371NCATS NIH HHS UL1 TR001079NCATS NIH HHS UL1 TR001082NCI NIH HHS P30 CA046934NCI NIH HHS R01 CA141700NCRR NIH HHS M01 RR000079NCRR NIH HHS P20 RR020143NIAID NIH HHS K08 AI083790NIAID NIH HHS K24 AI078004NIAID NIH HHS L30 AI071651NIAID NIH HHS P01 AI083194NIAID NIH HHS R01 AI063274NIAID NIH HHS R21 AI070304NIAID NIH HHS R21 AI090343NIAID NIH HHS U01 AI101934NIAID NIH HHS U19 AI082714NIAMS NIH HHS K24 AR002138NIAMS NIH HHS P01 AR049084NIAMS NIH HHS P30 AR053483NIAMS NIH HHS P60 AR049459NIAMS NIH HHS P60 AR053308NIAMS NIH HHS P60 AR062755NIAMS NIH HHS R01 AR042460NIAMS NIH HHS R01 AR043274NIAMS NIH HHS R01 AR043814NIAMS NIH HHS R01 AR051545NIAMS NIH HHS R01 AR064820NIAMS NIH HHS RC1 AR058621NIDCR NIH HHS R01 DE018209NIGMS NIH HHS P30 GM103510NIGMS NIH HHS U54 GM104938
Abstract
Efforts to identify lupus-associated causal variants in the FAM167A/BLK locus on 8p21 are hampered by highly associated noncausal variants. In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with systemic lupus erythematosus. The risk allele (T) at rs922483 reduced proximal promoter activity and modulated alternative promoter usage. Allelic differences at rs1382568 resulted in altered promoter activity in B progenitor cell lines. Thus, our results demonstrated that both lupus-associated functional variants contribute to the autoimmune disease association by modulating transcription of BLK in B cells and thus potentially altering immune responses.
Indexed as
Promoter Regions, GeneticTranscription, GeneticAllelesChromosomes, Human, Pair 8Electrophoretic Mobility Shift AssayFemaleGenetic Predisposition to DiseaseHaplotypesHumansLupus Erythematosus, SystemicMalePolymorphism, Single Nucleotidesrc-Family KinasesBLK protein, humansrc-Family Kinases
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.