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Acta Dermatovenerologica Croatica, Vol. 25 No. 3, 2017.

Short communication, Note

HLA-E*0101/0103X is associated with susceptibility to pemphigus vulgaris: a case-control study

Ece Altun ; Dept of DermatologyKaradeniz Technical University
Savas Yayli ; Dept of DermatologyKaradeniz Technical University
Bayram Toraman ; Dept of Medical BiologyKaradeniz Technical University
Deniz Aksu Arica ; Dept of DermatologyKaradeniz Technical University
Ersan Kalay ; Dept of Medical BiologyKaradeniz Technical University
Leyla Baykal Selçuk ; Dept of DermatologyKaradeniz Technical University
Sevgi Bahadir ; Dept of DermatologyKaradeniz Technical University

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Abstract

Pemphigus vulgaris (PV) is a life-threatening, autoimmune blistering disease of the skin and mucous membranes. The relationship between PV and human leukocyte antigen (HLA) has been studied in several reports. Previous reports have demonstrated that HLA-E polymorphisms may have a role in the susceptibility to various autoimmune diseases. Our aim was to evaluate the role of HLA-E gene polymorphisms in the pathogenesis of PV in a Turkish population. A total of 49 patients with PV and 50 healthy subjects were enrolled into the study. We sequenced and analyzed the HLA-E gene from genomic DNA obtained from peripheral blood samples of the study groups. HLA-E haplotyping was performed by Sanger sequencing of PCR products of the HLA-E gene and HLA-E alleles determined by using SeqScape® software according to the World Health Organization (WHO) Nomenclature Committee for Factors of the HLA System. The frequency of the HLA-E*0101/*0103X genotype in male patients with PV was found to be significantly higher than in men in the control group (P=0.023). In addition, the frequency of the HLA-E*0103X/*0103X genotype was significantly lower in patients with PV than the control group (P=0.040). We also detected that the frequency of the HLA-E*0101/*0103X genotype in patients with mucocutaneous type PV and the frequency of the HLA-E*0101/*0101 genotype in patients with mucosal type PV was significantly higher than those in other types of PV (P=0.001 and P=0.006). The results of this study indicate that carrying the HLA-E*0101/0103X genotype may increase the risk of PV in male patients.

 

Keywords

Pemphigus; hla-e; genetics

Hrčak ID:

187813

URI

https://hrcak.srce.hr/187813

Publication date:

19.10.2017.

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