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Updated: Dec 19, 2025
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Detection of Inflammasome Activation and Pyroptotic Cell Death in Murine Bone Marrow-derived Macrophages
Published on: May 21, 2018
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Inflammasome genetics and complex diseases: a comprehensive review.
Fernanda Pereira Fernandes1, Vinicius N C Leal1, Dhemerson Souza de Lima1
1Laboratorio de Imunogenetica, Departamento de Imunologia, Instituto de Ciencias Biomedicas/ICB, Universidade de Sao Paulo/USP, Sao Paulo, SP, Brazil.
European Journal of Human Genetics : EJHG
|June 6, 2020
Summary
Genetic variants in the inflammasome, a key immune complex, are linked to various diseases. This review explores how inflammasome genetics influences both sterile and infectious conditions.
Area of Science:
- Immunology
- Genetics
- Molecular Biology
Background:
- The inflammasome is a crucial cytoplasmic protein complex that activates inflammatory caspases and releases pro-inflammatory cytokines like IL-1ß and IL-18.
- Its complex activation involves multiple regulatory steps essential for homeostasis and innate immunity.
Purpose of the Study:
- To review genetic association studies on inflammasome gene polymorphisms.
- To elucidate the role of inflammasome genetics in the pathogenesis of both sterile and infectious diseases.
Main Methods:
- Literature review of genetic association studies.
- Analysis of polymorphisms in key inflammasome genes.
Main Results:
- Genetic variants in inflammasome components are associated with numerous common pathologies, including autoimmune disorders, cardiovascular diseases, metabolic syndrome, neurodegenerative diseases, and cancer.
- Inflammasome genetics also influences susceptibility to infections and the severity of infectious complications.
Conclusions:
- Inflammasome gene polymorphisms play a significant role in disease pathogenesis.
- Understanding inflammasome genetics is crucial for comprehending susceptibility and progression in a wide range of diseases.
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