TBX21 gen polimorfizminin nazal polipozis ile ilişkisi
Kerem Sami Kaya1, Pınar Ata2, Ömer Çağatay Ertugay3, Semra Külekçi4, Sema Zer Toros3
1Şişli Hamidiye Etfal Eğitim ve Araştırma Hastanesi, Kulak Burun Boğaz Kliniği, İstanbul, Turkey
2Marmara Üniversitesi Tıp Fakültesi Genetik Kliniği, İstanbul, Turkey
3Haydarpaşa Numune Eğitim ve Araştırma Hastanesi, Kulak Burun Boğaz Kliniği, İstanbul, Turkey
4Fatih Sultan Mehmet Eğitim ve Araştırma Hastanesi, Kulak Burun Boğaz Kliniği, İstanbul, Turkey
Keywords: Allergy, nasal polyposis, T-bet, TBX21, treg.
Abstract
OBJECTIVE: This study aims to investigate the possible relationship between nasal polyposis (NP) and transcription gene family (T-box) promoter region gene (TBX21) polymorphism.
METHODS: This retrospective study included a total of 32 patients (23 males, 9 females; mean age 42.5±15.0 years; range, 18 to 83 years) who were previously operated or given medical treatment for NP (Group 1) and 50 healthy controls (21 males, 29 females; mean age 32.7±9.9 years; range, 18 to 83 years) with a negative multi-prick allergy test result without any nasal cavity pathology (Group 2) between July 2018 and September 2018. The -1993 T>C single nucleotide polymorphism (SNP) in the TBX21 promoter region was investigated in all participants.
RESULTS: The number of TBX21 heterozygous mutation carriers was statistically significantly higher in Group 1 (p=0.001). In Group 1, allele mutation positivity with an allergy history was significantly higher than those without allergy history (p=0.028).
CONCLUSION: We found a higher ratio of TBX21 heterozygous mutation in the patients with NP. The -1993 T>C polymorphism of TBX21 may play a role in the etiopathogenesis of the NP.