ArticleScientific reports2019
Multiple Sclerosis patients carry an increased burden of exceedingly rare genetic variants in the inflammasome regulatory genes.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 46 citations in OpenAlex.
- Inflammasome Gene Polymorphisms (NLRP3 and NLRC4) and Vitamin D Status in Patients with Multiple Sclerosis.International journal of molecular sciences · 2026Article
- Cell death in multiple sclerosis.Cell death and differentiation · 2026Review
- Exome Sequencing and Molecular Modeling Reveal Novel Loci in Familial Multiple Sclerosis: The Importance of BTNL3 and BTNL8 in Disease Pathogenesis.Molecular neurobiology · 2025Article
- Association of Serum Levels of Vitamins D and E with Markers of NLRP3-inflammasome Pathway in Multiple Sclerosis.Oman medical journal · 2025Article
- Comprehensive pan-cancer analysis of NLRs family as prognostic and immunity markers based on multi-omics data.Discover oncology · 2025Article
- The role of NLRP3 inflammasome in multiple sclerosis: pathogenesis and pharmacological application.Frontiers in immunology · 2025Review
- Article
- In Silico Analysis Highlights Potential Predictive Indicators Associated with Secondary Progressive Multiple Sclerosis.International journal of molecular sciences · 2024Article
- Genome-Wide Expression Profile in People with Optic Neuritis Associated with Multiple Sclerosis.Biomedicines · 2023Article
- Review
- Review
- NLRP3 Inflammasome's Activation in Acute and Chronic Brain Diseases-An Update on Pathogenetic Mechanisms and Therapeutic Perspectives with Respect to Other Inflammasomes.Biomedicines · 2023Review
- Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.Frontiers in medicine · 2023Article
- Investigating the role of common and rare variants in multiplex multiple sclerosis families reveals an increased burden of common risk variation.Scientific reports · 2022Article
- Article
- RNA Sequencing of CD4Journal of molecular neuroscience : MN · 2021Article
- Article
- Neuroimmune crosstalk and evolving pharmacotherapies in neurodegenerative diseases.Immunology · 2021Review
- Predicting Multiple Sclerosis: Challenges and Opportunities.Frontiers in neurology · 2021Review
- Therapeutic regulation of the NLRP3 inflammasome in chronic inflammatory diseases.Archives of pharmacal research · 2021Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The role of rare genetic variation and the innate immune system in the etiology of multiple sclerosis (MS) is being increasingly recognized. Recently, we described several rare variants in the NLRP1 gene, presumably conveying an increased risk for familial MS. In the present study we aimed to assess rare genetic variation in the inflammasome regulatory network. We performed whole exome sequencing of 319 probands, comprising patients with familial MS, sporadic MS and control subjects. 62 genes involved in the NLRP1/NLRP3 inflammasome regulation were screened for potentially pathogenic rare genetic variation. Aggregate mutational burden was analyzed, considering the variants' predicted pathogenicity and frequency in the general population. We demonstrate an increased (p = 0.00004) variant burden among MS patients which was most pronounced for the exceedingly rare variants with high predicted pathogenicity. These variants were found in inflammasome genes (NLRP1/3, CASP1), genes mediating inflammasome inactivation via auto and mitophagy (RIPK2, MEFV), and genes involved in response to infection with DNA viruses (POLR3A, DHX58, IFIH1) and to type-1 interferons (TYK2, PTPRC). In conclusion, we present new evidence supporting the importance of rare genetic variation in the inflammasome signaling pathway and its regulation via autophagy and interferon-β to the etiology of MS.
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