Turan, Hakan2022-04-082022-04-082012Karkucak, 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), 310-313.2146-31232146-3131https://doi.org/10.5152/balkanmedj.2012.018http://www.balkanmedicaljournal.org/uploads/pdf/pdf_BMJ_486.pdfhttp://hdl.handle.net/11452/25668Objective: 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.eninfo:eu-repo/semantics/openAccessGeneral & internal medicinePolymorphismMbl2 geneErythema multiformeStevens-Johnson syndromeStevens-Johnson syndrome/toxic epidermal necrolysis overlap syndromeSusceptibilityAssociationClassificationVariantsMblArticle0003155062000172-s2.0-8486663647731031329325207021Medicine, general & internalMannose-Binding Lectins; Ficolin; CollectinsMannose binding lectin 2AdultAlleleArticleCodonControlled studyErythema multiformeFemaleGeneGene frequencyGenetic polymorphismGenetic predispositionGenetic susceptibilityGenotypeHumanMajor clinical studyMaleMbl2 geneStevens johnson syndromeToxic epidermal necrolysis