Surfaktan Protein B ve D Gen Polimorfizmlerinin Akut Bronşiolitin Sıklık ve Şiddeti Üzerine Etkileri

Öz

Giriş ve Amaç: Akut bronşiolit (AB), infantlarda en yaygın hastaneye yatış nedenidir. Benzer demografik özelliklere sahip hastalar arasında bronşiolitin farklı şekilde seyretmesi, bireysel farklılıklarda genetik faktörlerin rol oynayabileceğini düşündürmektedir. Yöntem ve Gereç: Çalışmaya bir çocuk polikliniğinden alınan, AB tanısı almış 106 bebek ve sağlıklı 107 bebek dahil edilmiştir. SP-B genindeki intron 4 ve C/A–18, ayrıca SP-D genindeki SP-D/160 (Ala160Thr) ve SP-D/270 (Ser270Thr) polimorfizmleri için genotipleme yapılmıştır. Bulgular: SP-B intron 4 sabit polimorfizmleri olan ins/ins ve ins/del oranları, AB grubunda sırasıyla %93,40 ve %4,72, kontrol grubunda ise %84,11 ve %15,89 olarak bulunmuştur (p = 0,012). SP-D/270 (Ser270Thr) genindeki Ser/Ser ve Ser/Thr polimorfizmleri AB grubunda %60 ve %39,05, kontrol grubunda ise %79,44 ve %18,69 oranında tespit edilmiştir (p = 0,004). Ser ve Thr allel frekansları AB grubunda sırasıyla %79,90 ve %20,10, kontrol grubunda ise %88,79 ve %11,21 olarak belirlenmiştir (p = 0,012). SP-B intron 4, C/A–18 ile SP-D Ser270Thr ve Ala160Thr polimorfizmleri ile AB’nin şiddeti arasında herhangi bir ilişki bulunmamıştır (p > 0,05). Sonuç: SP-B gen polimorfizmleri, AB için bir risk faktörü olarak belirlenirken, SP-D polimorfizmleri koruyucu bir rol oynamaktadır. Bununla birlikte, bu polimorfizmler AB’nin şiddeti ile ilişkili bulunmamıştır. Risk altındaki çocukların önceden tespit edilmesi ve yakından izlenmesi AB morbiditesi açısından önemli olabilir.

Anahtar Kelimeler

• akut bronşiolit
• surfaktan protein
• polimorfizm
• solunum yolları

Effect of Surfactant Protein B and D Genes Polymorphisms on Frequency and Severity of Acute Bronchiolitis

Öz

Background and aim: Acute bronchiolitis (AB) is the most common cause of hospitalization in infants. Varying bronchiolitis presentations in patients with similar demographic characteristics suggest genetic causes of individual differences. Materials and Methods: The study included 106 infants diagnosed with AB and 107 healthy infants recruited from a pediatric outpatient clinic. Genotyping was conducted for intron 4 and C/A–18 in the SP-B gene, along with SP-D/160 (Ala160Thr) and SP-D/270 (Ser270Thr) polymorphisms in the SP-D gene. Results: The SP-B intron 4 invariant polymorphisms of ins/ins and ins/del were 93.40% and 4.72% in the AB group and 84.11% and 15.89% in the control group, respectively (p = 0.012). Frequency of polymorphism in the SP-D/270 (Ser270Thr) gene for Ser/Ser and Ser/Thr was 60% and 39.05% in the AB group and 79.44% and 18.69% in the control group, respectively (p = 0.004). The frequencies of Ser and Thr alleles were 79.90% and 20.10% in the AB group and 88.79% and 11.21% in the control group, respectively (p = 0.012). There was no observed correlation between the SP-B intron 4 and C/A-1, as well as the SP-D Ser270Thr and Ala160Thr polymorphisms, with the severity of AB (p > 0.05). Conclusion: SP-B gene polymorphisms were identified as risk factors for AB, while SP-D polymorphisms appeared to play a protective role. However, these polymorphisms were not linked to AB severity. Early identification of children at risk could enable close monitoring and preventive care.

Anahtar Kelimeler

• acute bronchiolitis
• surfactant protein
• polymorphism
• respiratory disease

Kaynakça

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