ArticlePloS one2012
The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1β and IL-18 production.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 1 of them a synthesis that pooled it.
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Who cites it
84 citing papers in PubMed, 1 synthesis or guideline pooled it, 142 citations in OpenAlex.
- Association of NLRP3 rs35829419 and rs10754558 Polymorphisms With Risks of Autoimmune Diseases: A Systematic Review and Meta-Analysis.Frontiers in genetics · 2021Pooled it
- Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.Genes and immunity · 2019Trial
- The NLRP3 inflammasome: pathophysiology and therapeutic implications for schizophrenia and neuropsychiatric disorders.Molecular psychiatry · 2026Review
- Cytosolic receptors and signaling in antifungal immunity.The EMBO journal · 2025Review
- Correlations Between Immuno-Inflammatory Biomarkers and Hematologic Indices Stratified by Immunologic SNP Genotypes.Journal of clinical medicine · 2025Article
- Pyroptosis-driven immune dysregulation in COPD: molecular mechanisms and therapeutic implications.Frontiers in immunology · 2025Review
- Role of Innate Immunity in Cancer.Advances in experimental medicine and biology · 2025Review
- Ketone body metabolism and the NLRP3 inflammasome in Alzheimer's disease.Immunological reviews · 2025Review
- Association and interaction analysis of NLRP3 gene polymorphisms with hypertension risk: a case-control study in China.BMC cardiovascular disorders · 2024Article
- Concurrent genotyping and expression of NLRP3 inflammasome in pityriasis versicolor patient's skin lesions.Archives of dermatological research · 2024Article
- CARD8: A Novel Inflammasome Sensor with Well-Known Anti-Inflammatory and Anti-Apoptotic Activity.Cells · 2024Review
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- Patient Experiences and Challenges in the Management of Autoinflammatory Diseases-Data from the International FMF & AID Global Association Survey.Journal of clinical medicine · 2024Article
- NLRP3 and cancer: Pathogenesis and therapeutic opportunities.Pharmacology & therapeutics · 2023Review
- The phenotype and genotype of Chinese adult patients with NLRP3-associated autoinflammatory disease.Clinical rheumatology · 2023Article
- Article
- Inflammasome signaling in colorectal cancer.Translational research : the journal of laboratory and clinical medicine · 2023Review
- Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study.Frontiers in immunology · 2023Article
- Implications of combinedFrontiers in immunology · 2023Article
- Cause or consequence? The role of IL-1 family cytokines and receptors in neuroinflammatory and neurodegenerative diseases.Frontiers in immunology · 2023Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Q705K polymorphism in NLRP3 has been implicated in several chronic inflammatory diseases. In this study we determine the functional role of this commonly occurring polymorphism using an in-vitro system. PRINCIPAL
findingsNLRP3-WT and NLRP3-Q705K were retrovirally transduced into the human monocytic cell line THP-1, followed by the assessment of IL-1β and IL-18 levels in the cell culture supernatant. THP-1 cells expressing the above NLRP3 variants were sorted based upon Green Fluorescent Protein (GFP) expression. Cytokine response to alum (one of the most widely used adjuvants in vaccines) in the cells stably expressing NLRP3-WT and NLRP3-Q705K were determined. IL-1β and IL-18 levels were found to be elevated in THP-1 cells transduced with NLRP3-Q705K compared to the NLRP3-WT. Upon exposure to alum, THP-1 cells stably expressing NLRP3-Q705K displayed an increased release of IL-1β, IL-18 and TNF-α, in a caspase-1 and IL-1 receptor-dependent manner.
conclusionsCollectively, these findings show that the Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to an overactive NLRP3 inflammasome. The option of IL-1β blockade may be considered in patients with chronic inflammatory disorders that are unresponsive to conventional treatments.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.