ISSN : 2146-3123
E-ISSN : 2146-3131

Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Overlap Syndrome
Mutlu Karkucak 1, Tahsin Yakut 1, Emel Başkan Bülbül 2, Hakan Turan 3, Hayriye Sarıcaoğlu 4
1Department of Medical Genetics, Faculty of Medicine, Uludağ University, Bursa, Turkey
2Department of Dermatology, Faculty of Medicine, Uludağ University, Bursa, Turkey
3Department of Dermatology, Düzce University Faculty of Medicine, Düzce, Turkey
4Uludağ Üniversitesi Tıp Fakültesi, Dermatoloji Anabilim Dalı, Multidisipliner Behçet Merkezi, Bursa
DOI : 10.5152/balkanmedj.2012.018
Pages : 310-313

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.

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

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