ArticleAnnals of the rheumatic diseases2021
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing.
Article in Annals of the rheumatic diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease.Lupus science & medicine · 2022Pooled it
- A transcriptional patient map of systemic lupus erythematosus reveals disease-related multicellular immune programs conserved between blood and kidney.bioRxiv : the preprint server for biology · 2026Article
- Genetic Polymorphisms in Systemic Lupus Erythematosus and Their Clinical Implications: A Narrative Review.International journal of molecular sciences · 2026Review
- Targeting JAK/STAT signalling with cold atmospheric plasma: a potential therapy for systemic lupus erythematosus.Expert reviews in molecular medicine · 2026Review
- Renal thrombotic microangiopathy impairs renal function recovery in lupus nephritis.Clinical kidney journal · 2025Article
- Neutrophilic Urticarial Dermatosis: A Window into Systemic Inflammation and Autoimmune Disorders.Clinical reviews in allergy & immunology · 2025Review
- Bioinformatic analysis and experimental verification reveal expansion of monocyte subsets with an interferon signature in systemic lupus erythematosus patients.Arthritis research & therapy · 2025Article
- Rare and common single nucleotide variants in childhood-onset systemic lupus erythematosus.Lupus science & medicine · 2025Article
- Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.Arthritis & rheumatology (Hoboken, N.J.) · 2025Article
- Systemic lupus erythematosus: from an adverse event of interferon administration to a disease with new treatment options.Upsala journal of medical sciences · 2025Review
- Changes in DNA methylation are associated with systemic lupus erythematosus flare remission and clinical subtypes.Clinical epigenetics · 2024Article
- Sex differences in mortality among patients with lupus nephritis.European journal of medical research · 2024Article
- Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy.Nature reviews. Rheumatology · 2024Review
- IFN-I Score and Rare Genetic Variants in Children with Systemic Lupus Erythematosus.Biomedicines · 2024Article
- Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.Frontiers in genetics · 2024Review
- Metabolic Modulators in Cardiovascular Complications of Systemic Lupus Erythematosus.Biomedicines · 2023Review
- B cell polygenic risk scores associate with anti-dsDNA antibodies and nephritis in systemic lupus erythematosus.Lupus science & medicine · 2023Article
- Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants.Nature reviews. Nephrology · 2023Review
- [Research progress in systemic lupus erythematosus from 2021 to 2022].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus (jSLE).Molecular and cellular pediatrics · 2023Review
Corrections and comments
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Authors and funding
33 authors at 15 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesSystemic lupus erythematosus (SLE) is an autoimmune disease with extensive heterogeneity in disease presentation between patients, which is likely due to an underlying molecular diversity. Here, we aimed at elucidating the genetic aetiology of SLE from the immunity pathway level to the single variant level, and stratify patients with SLE into distinguishable molecular subgroups, which could inform treatment choices in SLE.
methodsWe undertook a pathway-centred approach, using sequencing of immunological pathway genes. Altogether 1832 candidate genes were analysed in 958 Swedish patients with SLE and 1026 healthy individuals. Aggregate and single variant association testing was performed, and we generated pathway polygenic risk scores (PRS).
resultsWe identified two main independent pathways involved in SLE susceptibility: T lymphocyte differentiation and innate immunity, characterised by HLA and interferon, respectively. Pathway PRS defined pathways in individual patients, who on average were positive for seven pathways. We found that SLE organ damage was more pronounced in patients positive for the T or B cell receptor signalling pathways. Further, pathway PRS-based clustering allowed stratification of patients into four groups with different risk score profiles. Studying sets of genes with priors for involvement in SLE, we observed an aggregate common variant contribution to SLE at genes previously reported for monogenic SLE as well as at interferonopathy genes.
conclusionsOur results show that pathway risk scores have the potential to stratify patients with SLE beyond clinical manifestations into molecular subsets, which may have implications for clinical follow-up and therapy selection.
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