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Published on: February 28, 2019
Genetic polymorphisms in chronic hyperplastic sinusitis with nasal polyposis
Joel M Bernstein1, Jack B Anon, Michael Rontal
1Department of Otolaryngology, School of Medicine and Biomedical Sciences, University at Buffalo, State University of New York, Buffalo, New York, USA. jbernste@buffalo.edu
Genetic variations in tumor necrosis factor (TNF)-alpha are linked to an increased risk of developing nasal polyposis. This finding may help understand the genetic susceptibility to chronic hyperplastic sinusitis with nasal polyposis (CHSwNP).
Area of Science:
- Immunogenetics
- Rhinology
- Molecular Biology
Background:
- Chronic hyperplastic sinusitis with nasal polyposis (CHSwNP) involves inflammation, but the initial trigger remains unknown.
- Proinflammatory cytokines are present in nasal polyp tissue, suggesting a role in pathogenesis.
- Genetic factors may contribute to susceptibility to CHSwNP.
Purpose of the Study:
- To investigate the association between genetic polymorphisms in cytokine, anti-inflammatory, and chemokine genes and CHSwNP.
- To identify potential genetic markers for susceptibility to nasal polyposis.
Main Methods:
- A case-control study was conducted with 179 patients with CHSwNP and 153 non-polyposis controls.
- DNA was extracted from buccal swabs using the Purgene DNA purification protocol.
- Genotyping of 14 cytokine gene loci was performed using Mass Array technology, with statistical analysis via unconditional logistic regression.
Main Results:
- A statistically significant difference in the frequency of the A allele in a single-nucleotide polymorphism (SNP) in the tumor necrosis factor (TNF)-alpha gene (rs1800629) was observed between CHSwNP patients and controls.
- Carrying at least one copy of the A allele at this TNF-alpha SNP was associated with an almost two-fold increased odds of developing nasal polyposis (OR, 1.86; 95% CI, 1.4-3.09).
- No other statistically significant differences in cytokine gene polymorphisms were found between the groups.
Conclusions:
- A specific SNP in the promoter region of the TNF-alpha gene (TNF-alpha-308) is associated with an increased risk of developing nasal polyposis.
- TNF-alpha, a potent pro-inflammatory cytokine, plays a significant role in the pathogenesis of CHSwNP.
- The genetic locus of TNF-alpha on chromosome 6, within the major histocompatibility complex, suggests a potential broader genetic association with immune-related diseases.
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