ArticleScientific reports2018
Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall.International journal of molecular sciences · 2025Article
- Next generation sequencing analysis reveals complex genetic architecture of childhood-onset systemic lupus erythematosus.Lupus science & medicine · 2025Article
- BICEP: Bayesian inference for rare genomic variant causality evaluation in pedigrees.Briefings in bioinformatics · 2024Article
- A Genome-Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome.Arthritis & rheumatology (Hoboken, N.J.) · 2024Article
- Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy.Nature reviews. Rheumatology · 2024Review
- Genetic interrogation for sequence and copy number variants in systemic lupus erythematosus.Frontiers in genetics · 2024Review
- Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants.Nature reviews. Nephrology · 2023Review
- Why are you hitting yourself? Whole-exome sequencing diagnosis of monogenic autoimmunity.Journal of genetics · 2023Article
- Loss-of-function variants inAnnals of the rheumatic diseases · 2022Article
- Targeting Specific Checkpoints in the Management of SARS-CoV-2 Induced Cytokine Storm.Life (Basel, Switzerland) · 2022Review
- Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022Article
- Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.Frontiers in immunology · 2022Review
- Application of NGS Technology in Understanding the Pathology of Autoimmune Diseases.Journal of clinical medicine · 2021Review
- DNA Damage Response and Oxidative Stress in Systemic Autoimmunity.International journal of molecular sciences · 2019Review
- Polymorphisms of MFGE8 are associated with susceptibility and clinical manifestations through gene expression modulation in Koreans with systemic lupus erythematosus.Scientific reports · 2019Article
- Exploring the etiopathogenesis of systemic lupus erythematosus: a genetic perspective.Immunogenetics · 2019Review
- New Attempts to Define and Clarify Lupus.Current rheumatology reports · 2019Review
- Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.Human genetics · 2019Article
- Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach.Frontiers in immunology · 2019Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In an effort to identify rare alleles associated with SLE, we have performed whole exome sequencing of the most distantly related affected individuals from two large Icelandic multicase SLE families followed by Ta targeted genotyping of additional relatives. We identified multiple rare likely pathogenic variants in nineteen genes co-segregating with the disease through multiple generations. Gene co-expression and protein-protein interaction analysis identified a network of highly connected genes comprising several loci previously implicated in autoimmune diseases. These genes were significantly enriched for immune system development, lymphocyte activation, DNA repair, and V(D)J gene recombination GO-categories. Furthermore, we found evidence of aggregate association and enrichment of rare variants at the FAM71E1/EMC10 locus in an independent set of 4,254 European SLE-cases and 4,349 controls. Our study presents evidence supporting that multiple rare likely pathogenic variants, in newly identified genes involved in known disease pathogenic pathways, segregate with SLE at the familial and population level.
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