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

Abstract

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.

Keywords

• akut bronşiolit
• surfaktan protein
• polimorfizm
• solunum yolları

Project Number

2014/53

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

Abstract

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.

Keywords

• acute bronchiolitis
• surfactant protein
• polymorphism
• respiratory disease

Supporting Institution

This study was supported financially by Gaziosmanpasa University Scientific Research Projects Fund. Project number: 2014/53

Project Number

2014/53

Ethical Statement

Gaziosmanpasa University Ethics Committee approval was received for this study (15-KAEK-040). The authors declare that they have no conflict of interest.

Thanks

We would like to thank PhD Osman Demir, assistant professor in Gaziosmanpasa University, Turkey, for his contribution to the statistical evaluation of the data of the study.

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