Astım Hastalarında İnterlökin-18 Gen Promotör (-607 C/A ve -656 G/T) Polimorfizmleri

Öz

Amaç: Astım, değişken hava yolu tıkanıklığı ile karakterize kronik bir inflamatuar hastalıktır ve genetik ve çevresel faktörlerden etkilenir. Hem doğuştan gelen hem de edinilmiş bağışıklıkta önemli rol oynayan bir sitokin olan interlökin-18 (IL-18), 11q22.2-q22.3 kromozom bölgesinde yer alan bir gen tarafından kodlanır. Bu çalışmanın amacı, Türk popülasyonunda astım ile IL-18 geni promotor polimorfizmleri -607 C/A ve -656 G/T arasındaki ilişkinin araştırılmasıdır. Gereç ve Yöntemler: 100 astım hastası (53 erkek, 47 kadın) ve 101 sağlıklı kontrolde (50 erkek, 51 kadın) genotiplerin incelenmesinde polimeraz zincir reaksiyonu (PCR) ve restriksiyon fragman uzunluk polimorfizmi (RFLP) kullanıldı. Her iki polimorfik bölgedeki genotip frekansları gruplar arasında karşılaştırıldı. Bulgular: -607 bölgesinde astım hastalarında genotip dağılımları CC 49 (%49,0), CA 46 (%46,0) ve AA 5 (%5,0) iken, kontrollerde CC 64 (%63,4), CA 34 (%33,7), ve AA 3 (%2,9) görüldü. CC genotipi hastalarda önemli derecede daha düşüktü ve C allel frekansında sınırda anlamlı bir azalma vardı (p=0,054). -656 bölgesinde, hastalardaki genotip dağılımları GG 49 (%49,0), GT 37 (%37,0) ve TT 14 (%14,0) iken, kontrol grubunda GG 55 (%54,5), GT 41 (%40,6) ve TT 5 (%4,9) idi. GG ve GT genotipleri bakımından önemli bir fark bulunmazken, TT genotipi hastalarda belirgin şekilde daha yüksekti (p=0,040). Sonuç: IL-18 -607 CC genotipinin astıma karşı koruyucu bir rolü bulunurken, -656 TT genotipi hastalık riskini artırıyor olarak görünmektedir. Bu sonuçlar, IL-18 promotor polimorfizmlerinin astım gelişimindeki önemini ve genetik risk değerlendirmesinde potansiyel kullanımını vurgulamaktadır.

Anahtar Kelimeler

• Astım
• İnterlökin-18
• rs1946518 C/A polimorfizmi
• rs1946519 G/T polimorfizmi

Interleukin-18 (-607 C/A and -656 G/T) Gene Promoter Polymorphism in Asthma Patients

Abstract

Aim: Asthma is a chronic inflammatory disease characterized by variable airway obstruction and influenced by genetic and environmental factors. Interleukin-18 (IL-18), a cytokine essential for both innate and adaptive immunity, is encoded by a gene located on chromosome 11q22.2-q22.3. This study aimed to investigate the association between asthma and IL-18 gene promoter polymorphisms -607 C/A and -656 G/T in the Turkish population. Material and Methods: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were utilized to examine genotypes in 100 asthma patients (53 males, 47 females) and 101 healthy controls (50 males, 51 females). Genotypic frequencies in both polymorphic regions were compared between groups. Results: In the -607 region, genotype distributions were CC 49 (49.0%), CA 46 (46.0%), and AA 5 (5.0 %) in asthma patients, while controls showed CC 64 (63.4%), CA 34 (33.7%), and AA 3 (2.9%). The CC genotype was significantly lower in patients, with a borderline significant reduction in C allele frequency (p=0.054). In the -656 region, distributions in patients were GG 49 (49.0%), GT 37 (37.0%), and TT 14 (14.0%), compared to GG 55 (54.5%), GT 41 (40.6%), and TT 5 (4.9%) in controls. Although GG and GT genotypes exhibited no significant differences, the TT genotype was notably higher in patients (p=0.040). Conclusion: The IL-18 -607 CC genotype may have a protective effect against asthma, whereas the -656 TT genotype increases risk. These outcomes underline the significance of IL-18 promoter polymorphisms in asthma development and potential use in genetic risk evaluation.

Keywords

• Asthma
• Interleukin-18
• rs1946518 C/A polymorphism
• rs1946519 G/T polymorphism

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