Cargando…

Contributions of de novo variants to systemic lupus erythematosus

By performing whole-genome sequencing in a Swedish cohort of 71 parent-offspring trios, in which the child in each family is affected by systemic lupus erythematosus (SLE, OMIM 152700), we investigated the contribution of de novo variants to risk of SLE. We found de novo single nucleotide variants (...

Descripción completa

Detalles Bibliográficos
Autores principales:	Almlöf, Jonas Carlsson, Nystedt, Sara, Mechtidou, Aikaterini, Leonard, Dag, Eloranta, Maija-Leena, Grosso, Giorgia, Sjöwall, Christopher, Bengtsson, Anders A., Jönsen, Andreas, Gunnarsson, Iva, Svenungsson, Elisabet, Rönnblom, Lars, Sandling, Johanna K., Syvänen, Ann-Christine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2020
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7852530/ https://www.ncbi.nlm.nih.gov/pubmed/32724065 http://dx.doi.org/10.1038/s41431-020-0698-5

Ejemplares similares

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus
por: Almlöf, Jonas Carlsson, et al.
Publicado: (2019)

DNA methylation mapping identifies gene regulatory effects in patients with systemic lupus erythematosus
por: Imgenberg-Kreuz, Juliana, et al.
Publicado: (2018)

Novel risk genes for systemic lupus erythematosus predicted by random forest classification
por: Almlöf, Jonas Carlsson, et al.
Publicado: (2017)

Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis
por: Bolin, Karin, et al.
Publicado: (2013)

High genetic risk score is associated with early disease onset, damage accrual and decreased survival in systemic lupus erythematosus
por: Reid, Sarah, et al.
Publicado: (2020)

Novel gene variants associated with cardiovascular disease in systemic lupus erythematosus and rheumatoid arthritis
por: Leonard, Dag, et al.
Publicado: (2018)

Shared and Unique Patterns of DNA Methylation in Systemic Lupus Erythematosus and Primary Sjögren's Syndrome
por: Imgenberg-Kreuz, Juliana, et al.
Publicado: (2019)

Interaction between the STAT4 rs11889341(T) risk allele and smoking confers increased risk of myocardial infarction and nephritis in patients with systemic lupus erythematosus
por: Reid, Sarah, et al.
Publicado: (2021)

Sex differences in clinical presentation of systemic lupus erythematosus
por: Ramírez Sepúlveda, Jorge I., et al.
Publicado: (2019)

Mutations in genes encoding complement inhibitors CD46 and CFH affect the age at nephritis onset in patients with systemic lupus erythematosus
por: Jönsen, Andreas, et al.
Publicado: (2011)

Genetic variations in A20 DUB domain provide a genetic link to citrullination and neutrophil extracellular traps in systemic lupus erythematosus
por: Odqvist, Lina, et al.
Publicado: (2019)

Case definitions in Swedish register data to identify systemic lupus erythematosus
por: Arkema, Elizabeth V, et al.
Publicado: (2016)

C-Reactive Protein Levels in Systemic Lupus Erythematosus Are Modulated by the Interferon Gene Signature and CRP Gene Polymorphism rs1205
por: Enocsson, Helena, et al.
Publicado: (2021)

Toll-like receptors revisited; a possible role for TLR1 in lupus nephritis
por: Yavuz, Sule, et al.
Publicado: (2021)

Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease
por: Yavuz, Sule, et al.
Publicado: (2022)

De novo lupus nephritis during treatment with belimumab
por: Parodis, Ioannis, et al.
Publicado: (2020)

Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
por: Sandling, Johanna K, et al.
Publicado: (2021)

Variants in BANK1 are associated with lupus nephritis of European ancestry
por: Bolin, Karin, et al.
Publicado: (2021)

A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
por: Sigurdsson, Snaevar, et al.
Publicado: (2008)

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations
por: Wang, Chuan, et al.
Publicado: (2013)

Genome-wide DNA methylation analysis in multiple tissues in primary Sjögren's syndrome reveals regulatory effects at interferon-induced genes
por: Imgenberg-Kreuz, Juliana, et al.
Publicado: (2016)

DNA Methylation-Based Interferon Scores Associate With Sub-Phenotypes in Primary Sjögren’s Syndrome
por: Imgenberg-Kreuz, Juliana, et al.
Publicado: (2021)

Function of multiple sclerosis-protective HLA class I alleles revealed by genome-wide protein-quantitative trait loci mapping of interferon signalling
por: Lundtoft, Christian, et al.
Publicado: (2020)

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts
por: Farias, Fabiana H. G., et al.
Publicado: (2018)

Quick Systemic Lupus Activity Questionnaire (Q-SLAQ): a simplified version of SLAQ for patient-reported disease activity
por: Svenungsson, Elisabet, et al.
Publicado: (2021)

B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus
por: Hedenstedt, Anna, et al.
Publicado: (2023)

Comparison of Surrogate Markers of the Type I Interferon Response and Their Ability to Mirror Disease Activity in Systemic Lupus Erythematosus
por: Enocsson, Helena, et al.
Publicado: (2021)

A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE
por: Sandling, Johanna K, et al.
Publicado: (2011)

Low-density granulocytes are related to shorter pregnancy duration but not to interferon alpha protein blood levels in systemic lupus erythematosus
por: Torell, Agnes, et al.
Publicado: (2023)

Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome
por: Lundtoft, Christian, et al.
Publicado: (2022)

Complement deposition, C4d, on platelets is associated with vascular events in systemic lupus erythematosus
por: Svenungsson, Elisabet, et al.
Publicado: (2020)

Four Systemic Lupus Erythematosus Subgroups, Defined by Autoantibodies Status, Differ Regarding HLA‐DRB1 Genotype Associations and Immunological and Clinical Manifestations
por: Diaz‐Gallo, Lina‐Marcela, et al.
Publicado: (2021)

Circulating Levels of Interferon Regulatory Factor-5 Associates With Subgroups of Systemic Lupus Erythematosus Patients
por: Idborg, Helena, et al.
Publicado: (2019)

Autoantibody and Cytokine Profiles during Treatment with Belimumab in Patients with Systemic Lupus Erythematosus
por: Parodis, Ioannis, et al.
Publicado: (2020)

Cause and consequences of the activated type I interferon system in SLE
por: Eloranta, Maija-Leena, et al.
Publicado: (2016)

Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
por: Lundtoft, Christian, et al.
Publicado: (2022)

Increased levels of anti-dsDNA antibodies in immune complexes before treatment with belimumab associate with clinical response in patients with systemic lupus erythematosus
por: Sohrabian, Azita, et al.
Publicado: (2019)

Inflammatory markers in saliva and urine reflect disease activity in patients with systemic lupus erythematosus
por: Ruacho, Guillermo, et al.
Publicado: (2022)

Factors associated with self-reported capacity to walk, jog and run in individuals with systemic lupus erythematosus
por: KINIKLI, Gizem İrem, et al.
Publicado: (2020)

Urinary aberrations in systemic lupus erythematosus not always indicative of lupus nephritis: a cross-sectional cohort study
por: Karlsson, Linnea, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_p9862r3uq0aj91ni27hcgp8hrf