HLA-B*51 POZİTİF BEHÇET HASTALARINDA HLA-B*51 ALLELLERİNİN ARAŞTIRILMASI

Year 2023, Volume: 3 Issue: 3, 6 - 16, 30.12.2023

Sinem Topcu Ayas , Aslı Ozkızılcık Kocyıgıt , Tulay Kılıcaslan Ayna , Kiymet Handan Kelekci , Mustafa Soyoz , Ibrahim Pırım

Abstract

Amaç: 1937 yılında Türk Dermatolog Prof. Dr. Hulusi Behçet tarafından keşfedilen Behçet Hastalığının (BH) semptomları tekrar eden oral aft, genital ülserler ve üveyitti. Daha sonra bu hastalığın eklemleri, kan damarlarını, bağırsakları, akciğerleri ve beyin sistemini de kapsadığı bildirilmiştir. Hastalığın seyrini yaş, cinsiyet, fizyolojik faktörler, enfeksiyöz ajanlar, immün yanıt ve genetik geçişler etkiler. En yaygın görülen genetik risk faktörü İnsan Lökosit Antijeni (HLA)-B*51’dir. Bu çalışmada HLA-B*51 alt alleleri ile hastalık etyolojisi arasındaki ilişki irdelenmesi amaçlanmıştır.
Gereç ve Yöntem: BH hastaları ile kontrol grubu arasında HLA-B*51 alt allellerinin prevalanslarını karşılaştırdık. Sekans spesifik primer polimeraz zincir reaksiyonu (SSP-PZR) yöntemiyle HLA-B*51 pozitif olan 24 kişinin doku tiplemesi yapılmıştır. Kontrol grubunda ise kemik iliği donörü olan 73 sağlıklı bireyin HLA-B*51 alt allel tiplemesi DNA dizi analizi yöntemiyle belirlenmiştir.
Bulgular: Hasta grubunda HLA-B*51:01 ve 51:08 alt allellerinin prevalansı sırasıyla %80 ve %20 bulunmuştur. HLA-B*51:01, 02, 05, 07 ve 08 alt allellerinin kontrol grubundaki sıklıkları sırasıyla %90,4, %4,1, %2,7 %1,4 ve %1,4 olarak bulunmuştur. Hasta ve control grubu arasında HLA-B*51:01 alt allelinin sıklığı bakımından istatistiksel olarak anlamlı bir farklılık bulunmamıştır (p>0.05; p=0.457 RR<1). İstatistiksel olarak anlamlı sonuçlar HLA-B*51:08 alt alleli için bulunmuştur (p<0.05; p=0.003 RR=18.8). HLA-B*51:01 ve HLA-B*51:08 alt allelleri ile klinik semptomlar arasında anlamlı bir ilişki bulunmamıştır.
Sonuç: HLA-B*51:08 alt allelinin BH gelişiminde önemli bir faktör olabilir. Yapılacak çalışmalarla hastalığın patofizyolojisi açısından önemi gösterilebilir.

Keywords

Behçet hastalığı, HLA-B*51 alt alleli, organ tutulumu, PZR, gen

Project Number

2017-TYL-SABE-0043

INVESTIGATION OF HLA-B*51 SUB-ALLELES IN HLA-B*51 POSITIVE BEHCET PATIENTS

Abstract

Aim: The initial identification of Behçet's disease (BD) occurred in 1937, credited to the Turkish dermatologist Prof. Dr. Hulusi Behçet. Symptoms included repeated oral aphthae, genital ulcers, and uveitis. Then, it was revealed that the illness involves the joints, blood vessels, intestines, lungs, and brain system. Age, gender, psychological factors, infectious agents, immune responses, and genetic predispositions affect illness progression. The most common genetic risk factor is HLA-B*51. This study aimed to examine the relationship between HLA-B*51 sub-alleles and illness etiology.
Materials and Method: We compared the prevalence of two HLA-B*51 sub-alleles (HLA-B*51:01 and HLA-B*51:08) in patients with BD versus healthy individuals. The samples of 24 HLA-B*51 positive individuals were typed by Polymerase Chain Reaction with Sequence-Specific Primers (PCR-SSP). In the control group, 73 healthy bone marrow donors were HLA-B*51 subtyped by DNA sequencing.
Results: The prevalence of HLA-B*51:01 and 51:08 sub-alleles in patients was 80% and 20%, respectively. The frequencies of HLA-B*51:01, 02, 05, 07, and 08 in the control group were 90.4%, 4.1%, 2.7%, 1.4%, and 1.4%, respectively. There was no significant difference in HLA-B*51:01 allele frequency between patient and control groups (p>0.05; p=0.457 RR<1). Statistically significant differences were seen for the HLA-B*51:08 allele (p<0.05; p=0.003 RR=18.8). No statistically significant correlation was found between HLA-B*51:01 and HLA-B*51:08 sub-alleles and clinical symptoms (p-value > 0.05).
Conclusion: HLA-B*51:08 sub-allele may be an important risk factor for BD development. Future investigations can further highlight the significance of its role in the pathophysiology of the disease.

Keywords

Behçet’s disease, HLA-B*51 sub-alleles, organ involvement, PCR, gene

Ethical Statement

Signed Informed Consents were obtained from all patients. In compliance with the Declaration of Helsinki, our Institutional Non-Interventional Clinical Research Ethics Committee approved the study (Decision No: 17, 09.02.2017).

Supporting Institution

Izmir Katip Celebi University Coordination of Scientific Research Projects

Project Number

2017-TYL-SABE-0043

Thanks

The authors have no financial or other conflict of interest. This study was financially supported by Izmir Katip Celebi University Coordination of Scientific Research Projects (Project no: 2017-TYL-SABE-0043). This study was presented as a poster presentation (P213) in 32nd European Federation of Immunogenetics Congress in Venice, Italy in 2018.

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