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Turkish Journal of Medical Sciences

DOI

10.3906/sag-1312-104

Abstract

To investigate cold-induced autoinflammatory syndrome 1 (CIAS1) gene polymorphisms that cause autoinflammatory diseases in patients with nasal polyposis (NP). Materials and methods: The study included 30 patients diagnosed with NP and 30 healthy age-matched individuals as a control group. CIAS1 polymorphisms were assessed by DNA sequence analysis. Patients with nasal polyps and the control group were compared in terms of gene polymorphisms. Each of the 8 polymorphisms of the CIAS1 gene was analyzed separately in the patient group. Results: The most frequently observed polymorphisms in the patient group were c.732G > A in 83%, c.663C > T in 23%, and c.1308C > A in 23% of the patients. c.732G > A polymorphism was evaluated separately. Guanine was transformed to adenine at the 732nd nucleotide position of the CIAS1 gene in the cDNA of chromosome 1. Conclusion: The CIAS1 gene c.732G > A polymorphism was thought to be responsible for an increase in disease susceptibility. The frequency of the \"A\" allele is higher in the patient group compared to the control group. Autoinflammatory diseases seem like a candidate to be one of these factors. This is the first report to define the role of autoinflammatory diseases among these factors.

Keywords

Nasal polyps, hereditary autoinflammatory disease, polymorphism, inflammation, CIAS1

First Page

136

Last Page

140

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