Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

Abstract

Objective: Monnose-Binding lectin (MBL) appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome). Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results: The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328). Conclusion: Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size. Turkish Anahtar Kelimeler: Polimorfizm, MBL-2 geni, eritema multiforme, Stevens-Johnson Sendromu, Stevens-Johnson Sendromu/Toksik Epidermal Nekroliz Overlap Sendromu Amaç: Mannoz-bağlayıcı-lektin (MBL) immün sistemde önemli bir rol oynamaktadır. MBL-2 genindeki genetik polimorfizmler serum seviyelerinde bir azalmaya neden olarak tekrarlayan enfeksiyonlara yol açabilirler. Bu çalışmanın amacı MBL-2 kodon 54 gen polimorfizminin eritema multiforme, Stevens-Johnson Sendromu ve Stevens-Johnson Sendromu/Toksik Epidermal Nekroliz Overlap Sendromuna (EM, SJS and SJS/TEN overlap sendromu) yatkınlık üzerindeki etkisini araştırmaktır. Gereç ve Yöntemler: Çalışmamıza klinik ve/veya histopatolojik olarak EM, SJS ve SJS/TEN overlap sendromu tanısı almış 64 hasta ve 66 sağlıklı kontrol dahil edildi. Tüm olgulara PCR- RFLP metodu kullanılarak MBL-2 kodon 54 gen polimorfizmi için genotip analizi yapıldı. Tüm istatistiksel analizler için anlamlılık seviyesi p<0,05 olarak belirlendi. Bulgular: B alel prevalansı EM, SJS ve SJS/TEN hasta grubunda %18, kontrol grubunda ise %13 idi. B aleli hasta grubunda daha yüksek sıklıkta saptanmasına rağmen (p=0,328), hasta ve kontrol grupları arasında polimorfizmin alel frekansları açısından anlamlı farklılık saptanmadı. Sonuç: Elde ettiğimiz bulgular MBL-2 kodon 54 gen polimorfizmi ile EM, SJS ve SJS/TEN overlap sendromuna yatkınlık arasında herhangi bir ilişki olmadığını göstermektedir. Ancak, bu sonuçlar daha geniş olgu sayılı çalışmalarla desteklenmelidir.

Keywords

• Polymorphism, MBL2 gene, Erythema multiforme, Stevens-Johnson syndrome, Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome

Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

Öz

Kaynakça

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