Investigation of monnose-binding lectin gene polymorphism in patients with erythema multiforme, Stevens-Johnson syndrome and Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome

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Date

2012

Authors

Turan, Hakan

Journal Title

Journal ISSN

Volume Title

Publisher

Aves

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.

Description

Keywords

General & internal medicine, Polymorphism, Mbl2 gene, Erythema multiforme, Stevens-Johnson syndrome, Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome, Susceptibility, Association, Classification, Variants, Mbl

Citation

Karkucak, M. vd. (2012). "Investigation of monnose-binding lectin gene polymorphism in patients with erythema multiforme, Stevens-Johnson syndrome and Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome". Balkan Medical Journal, 29(3), 310-313.