Evaluation of autoinflammatory disease genes in nasal polyposis.

BACKGROUND/AIM: To investigate cold-induced autoinflammatory syndrome 1 (CIAS 1) 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.