ArticleNature communications2019
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
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Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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59citing papers in PubMed, 1 pooled it
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59 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.Nature communications · 2026Pooled it
- Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.Scientific reports · 2019Trial
- TLR7 in systemic lupus erythematosus: genetics and emerging therapies.Nature reviews. Rheumatology · 2026Review
- The shared genetic architecture underlying the autoimmune and cardiovascular disease: a multivariate genome-wide analysis.Cardiovascular diabetology · 2026Article
- Association between Lyn tyrosine kinase and renal injury in patients with systemic lupus erythematosus.Renal failure · 2025Article
- Tapping natures rhythm: the role of season in mitochondrial function and genetics in the UK biobank.Human genomics · 2025Article
- Genetic and epigenetic factors shape phenotypes and outcomes in systemic lupus erythematosus - focus on juvenile-onset systemic lupus erythematosus.Current opinion in rheumatology · 2025Review
- Towards precision medicine for systemic lupus erythematosus and neuropsychiatric manifestations.Expert review of precision medicine and drug development · 2025Article
- ELF1 serves as a potential biomarker for the disease activity and renal involvement in systemic lupus erythematosus.Scientific reports · 2024Article
- Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy.Nature reviews. Rheumatology · 2024Review
- A TNIP1-driven systemic autoimmune disorder with elevated IgG4.Nature immunology · 2024Article
- PTEN acts as a crucial inflammatory checkpoint controlling TLR9/IL-6 axis in B cells.iScience · 2024Article
- Type I interferon pathway in pediatric systemic lupus erythematosus.World journal of pediatrics : WJP · 2024Review
- Sequential immunotherapy: towards cures for autoimmunity.Nature reviews. Drug discovery · 2024Review
- A Multilayered Post-Genome-Wide Association Study Analysis Pipeline Defines Functional Variants and Target Genes for Systemic Lupus Erythematosus.Arthritis & rheumatology (Hoboken, N.J.) · 2024Article
- Type I Interferons in Systemic Autoimmune Rheumatic Diseases: Pathogenesis, Clinical Features and Treatment Options.Mediterranean journal of rheumatology · 2024Review
- Low-frequency and rare genetic variants associated with rheumatoid arthritis risk.Nature reviews. Rheumatology · 2024Review
- Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.The Journal of experimental medicine · 2024Article
- BLK positively regulates TLR/IL-1R signaling by catalyzing TOLLIP phosphorylation.The Journal of cell biology · 2024Article
- A novel functionalFrontiers in immunology · 2024Article
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Authors and funding
41 authors.
Simon H JiangDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia. Simon.jiang@anu.edu.au.
Vicki AthanasopoulosDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Julia I EllyardDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Aaron ChuahCentre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, 2601, Australia.ORCID http://orcid.org/0000-0003-3066-701X
Jean CappelloDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Amelia CookDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.ORCID http://orcid.org/0000-0002-9989-3886
Savit B PrabhuDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Jacob CardenasBaylor Medical Institute, Houston, 77030, Texas, USA.ORCID http://orcid.org/0000-0003-3290-6053
Jinghua GuBaylor Medical Institute, Houston, 77030, Texas, USA.
Maurice StanleyDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Jonathan A RocoDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Ilenia PapaDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Mehmet YabasDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Giles D WaltersDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.ORCID http://orcid.org/0000-0003-4854-9353
Gaetan BurgioDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.ORCID http://orcid.org/0000-0002-7434-926X
Kathryn McKeonDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
James M ByersDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Charlotte BurrinDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Anselm EndersDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.ORCID http://orcid.org/0000-0001-5933-6463
Lisa A MiosgeDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Pablo F CaneteDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Marija JelusicDepartment of Paediatric Rheumatology and Immunology, University of Zagreb School of Medicine, Zagreb, 10000, Croatia.
Velibor TasicUniversity Children's Hospital, Medical School, Skopje, 1000, Macedonia.
Adrian C LunguDepartment of Pediatric Nephrology, Fundeni Clinical Institute, Bucharest, 022328, Romania.
Stephen I AlexanderCentre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, 2601, Australia.
Arthur R KitchingCentre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, 2601, Australia.ORCID http://orcid.org/0000-0002-2713-2391
David A FulcherDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Nan ShenChina Australia Centre for Personalised Immunology, Renji Hospital Shanghai, JiaoTong University Shanghai, Huangpu Qu, 200333, China.
Todor ArsovDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.
Paul A GatenbyDepartment of Immunology, The Canberra Hospital, Garran, 2601, ACT, Australia.
Jeff J BabonWalter and Eliza Hall Institute, Parkville, 3052, VIC, Australia.ORCID http://orcid.org/0000-0002-5408-6239
Dominic F MallonImmunology PathWest Fiona Stanley Hospital, Murdoch, 6150, WA, Australia.
Carmen de Lucas CollantesDepartment of Pediatric Nephrology, Children's University Hospital Niño Jesús, Madrid, 28009, Spain.
Eric A StoneResearch School of Biology and Research School of Finance, Actuarial Studies and Statistics, Acton, 2601, ACT, Australia.
Philip WuCentre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, 2601, Australia.
Matthew A FieldCentre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, 2601, Australia.
Thomas D AndrewsCentre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, 2601, Australia.
Eun ChoCentre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, 2601, Australia.ORCID http://orcid.org/0000-0001-9039-9876
Virginia PascualBaylor Medical Institute, Houston, 77030, Texas, USA.ORCID http://orcid.org/0000-0002-8806-8426
Matthew C CookDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia.ORCID http://orcid.org/0000-0002-3331-9363
Carola G VinuesaDepartment of Immunology and Infectious Disease, John Curtin School of Medical Research, Acton, 2601, ACT, Australia. Carola.vinuesa@anu.edu.au.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It is thought that many common variant gene loci of weak effect act additively to predispose to common autoimmune diseases, while the contribution of rare variants remains unclear. Here we describe that rare coding variants in lupus-risk genes are present in most SLE patients and healthy controls. We demonstrate the functional consequences of rare and low frequency missense variants in the interacting proteins BLK and BANK1, which are present alone, or in combination, in a substantial proportion of lupus patients. The rare variants found in patients, but not those found exclusively in controls, impair suppression of IRF5 and type-I IFN in human B cell lines and increase pathogenic lymphocytes in lupus-prone mice. Thus, rare gene variants are common in SLE and likely contribute to genetic risk.
Indexed as
Genetic Predisposition to DiseaseAdaptor Proteins, Signal TransducingAdolescentAdultAnimalsB-LymphocytesCase-Control StudiesCell LineCell NucleusChildDisease Models, AnimalExome SequencingFemaleGene FrequencyHealthy VolunteersHEK293 CellsAdaptor Proteins, Signal TransducingBANK1 protein, humanBLK protein, humanB lymphoid kinase, mouseInterferon Regulatory FactorsInterferon Type IIRF5 protein, humanIrf5 protein, mouseMembrane Proteinssrc-Family Kinases
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