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Primary Sjogren's Syndrome Associated with Lung Adenocarcinoma: Probing the Potential Common Pathogenic Mechanisms and Experimental Verification

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Proinflammatory cytokine gene single nucleotide polymorphisms in common variable immunodeficiency.

N Rezaei¹, A A Amirzargar, Y Shakiba

¹Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@hbi.ir

Clinical and Experimental Immunology

|December 17, 2008

Summary

Genetic variations in proinflammatory cytokine genes are linked to common variable immunodeficiency (CVID). Specific single nucleotide polymorphisms and haplotypes of IL-6 and TNF-alpha genes were found to be significantly associated with CVID.

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Area of Science:

Immunology
Genetics

Background:

Common variable immunodeficiency (CVID) is a complex primary immunodeficiency.
Cytokine production alterations may contribute to CVID pathogenesis.
Genetic polymorphisms in cytokine genes are potential contributing factors.

Purpose of the Study:

To investigate the association between proinflammatory cytokine gene single nucleotide polymorphisms (SNPs) and CVID.
To compare allele and genotype frequencies of specific cytokine genes between CVID patients and healthy controls.

Main Methods:

Genotyping and frequency analysis of SNPs in tumor necrosis factor-alpha (TNF-alpha), interleukin-1alpha (IL-1alpha), IL-1beta, IL-1 receptor (IL-1R), IL-1 receptor antagonist (IL-1RA), and IL-6 genes.
Comparison of genotype and haplotype frequencies between CVID patients and controls.

Main Results:

Significant differences in allele and genotype frequencies for IL-6 (nt565, -174) and TNF-alpha (-308) were observed between CVID patients and controls.
Specific IL-6 (CA, GA) and TNF-alpha (GA) haplotypes were more frequent in patients, while others (TNF-alpha GA, IL-6 GG) were decreased.
Findings suggest a potential role for cytokine gene polymorphisms in CVID pathophysiology, possibly leading to elevated TNF-alpha production in some patients.

Conclusions:

Cytokine gene single nucleotide polymorphisms are associated with common variable immunodeficiency.
Specific genetic variations in IL-6 and TNF-alpha may influence CVID susceptibility and disease mechanisms.
Further research into cytokine gene polymorphisms could elucidate CVID pathogenesis and inform potential therapeutic strategies.