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Updated: Jun 27, 2026
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Multiplex Cytokine Profiling of Stimulated Mouse Splenocytes Using a Cytometric Bead-based Immunoassay Platform
Published on: November 9, 2017
Cytokine and cytokine receptor gene polymorphisms and their functionality
Andrew J P Smith1, Steve E Humphries
1Centre for Cardiovascular Genetics, Department of Medicine, University College London, United Kingdom. Andrew.J.P.Smith@ucl.ac.uk
Cytokine & Growth Factor Reviews
|November 29, 2008
Summary
Genetic variations in cytokine and cytokine receptor genes influence immune responses and disease susceptibility. Understanding these single nucleotide polymorphisms (SNPs) is key to disease association and treatment response.
Area of Science:
- Immunology
- Genetics
Background:
- Cytokines are crucial signaling proteins for immune system development and function.
- Aberrant cytokine gene expression, due to genetic polymorphisms, is linked to diseases, infections, and treatment outcomes.
Purpose of the Study:
- This review focuses on the functional impact of cytokine and cytokine receptor gene polymorphisms.
- It highlights how these genetic variants establish genuine disease associations.
Main Methods:
- The review examines various mechanisms of single nucleotide polymorphism (SNP) functionality within cytokine genes.
- Specific examples of SNPs in genes like IL-6R, IL-13, IL-1alpha, IL-7Ralpha, IL-1beta, and others are discussed.
Main Results:
- Functional SNPs can alter amino acid sequences, cause exon skipping, or affect promoter and enhancer activity.
- These variations directly impact cytokine gene expression and function.
Conclusions:
- Cytokine and cytokine receptor gene polymorphisms are critical determinants of immune response and disease susceptibility.
- Understanding the functional consequences of these variants is essential for clinical applications.
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