Ayça KOCAAĞA, Güneş ÇAKMAK GENÇ, Sevim KARAKAŞ ÇELİK, Emel HAZİNEDAR, Ahmet DURSUN

Behçet Hastalığı ile İnterlökin-4 gen (VNTR) Polimorfizmi Arasındaki İlişkinin Araştırılması

Amaç: Behçet hastalığı (BH); mukokutanöz bulguların ön planda olduğu deri, göz, eklemler, gastrointestinal ve merkezi sinir sisteminin çeşitli inflamatuar lezyonları ile karakterize sistemik bir vaskülittir. Sitokinlerin BH patogenezinde önemli rolleri olduğu ve sitokin üretiminin genetik polimorfizmlerden etkilenebileceği bilindiğinden bu çalışmada IL-4gen (değişken sayılı ardışık tekrarlar- VNTR) polimorfizmi ile BH arasındaki ilişkinin araştırılması amaçlanmıştır. Gereç ve Yöntemler: Bu çalışmaya ‘Uluslararası Behçet Hastalığı Çalışma Grubu’ tanı kriterlerine göre tanı almış 74 Behçet hastası ve 100 sağlıklı kontrol dahil edilmiştir. IL-4 geni VNTR (rs79071878) polimorfizmi spesifik primerler kullanılarak PZR-RFLP (polimeraz zincir reaksiyonu sınırlama fragman uzunluğu polimorfizmi) yöntemi ile genotiplenmiştir. Behçet hastaları ve kontrol grupları IL-4 gen VNTR polimorfizmi açısından genotip ve alel dağılımlarına göre analiz edilmiştir. Ayrıca hastalar bazı klinik bulgularına göre genotip ve alel dağılımlarına göre karşılaştırılmıştır. Bulgular: IL-4 geni VNTR (rs79071878) polimorfizmi genotip ve alel dağılımları açısından Behçet hast- aları ve sağlıklı kontroller arasında istatistiksel olarak anlamlı bir fark bulunamamıştır(sırasıyla p=0.332 ve p=0.445). Hastalar bazı klinik özelliklerine göre gruplandırıldığında daIL-4 geni VNTR polimorfizmi açısından gruplar arasında istatistiksel olarak anlamlı bir fark gözlenmemiştir. Gastrointestinal sistem (GİS) tutulumu olan hastalarda P2P2 genotip frekansının GİS tutulumu olmayan hastalara göre daha yüksek olduğu ancak bu farkın istatistiksel açıdan anlamlı olmadığı tespit edilmiştir (%90,0 ve %68,8; p=0.052). Sonuç: Bulgularımız IL-4 geni VNTR polimorfizminin BH gelişimi ve klinik bulguları ile ilişkili olmadığını göstermiştir. Behçet hastalığı ve IL-4 geni ile ilgili sınırlı araştırmalar olması nedeniyle bu çalışma literatüre önemli bir katkı sağlayacaktır. Anahtar Sözcükler: Behçet hastalığı, IL-4 geni, Polimeraz zincir reaksiyonu, Polimorfizm, Değişken sayılı ardışık tekrarlar

Investigation of the Relationship Between Behçet’s Disease and Interleukin-4gene (VNTR) Polymorphism

Aim: Behçet’s disease (BD); is a systemic vasculitis characterized by various inflammatory lesions of the mucocutaneous, skin, eyes, joints, gastrointestinal and central nervous system. Since cytokines were known to play an important role in the pathogenesis of the BD and cytokine production might be affected by gene polymorphisms, this study was aimed to investigate the relationship between IL-4 gene (variable number tandem repeats-VNTR) polymorphism and pathogenesis of BD. Material and Methods: This study included 74 Behçet patients diagnosed according to the ‘International Behçet’s Disease Study Group’ criteria and 100 healthy controls. Genomic DNA was isolated from peripheral venous blood. IL-4 gene VNTR polymorphism was genotyped by the PCR-RFLP (polymerase chain reaction restriction fragment length polymorphism) method using specific primers. Behçet’s patients and control groups were analyzed for IL-4 gene VNTR (variable number tandem repeats-) polymorphism according to their genotype and allele distributions. In addition, with regard to some clinical findings, patients were compared according to their genotype and allele distribution. Results: The distribution of genotype and allele frequencies were not statistically different between BD patients and healthy controls (p>0.05). When we examined genotype and allele frequencies of IL-4 gene VNTR polymorphism according to some clinical characteristics, we did not observed a statistically significant association between the BD patients. It was found that the P2P2 genotype frequency was higher in patients with positive gastrointestinal system (GIS) involvement compared to GIS negative patients, but this difference was not statistically significant (90.0% vs 68.8%; p = 0.052). Conclusion: Our findings showed that IL-4 gene VNTR polymorphism was not related to the development and clinical manifestations of BD. The present study is expected to make an important contribution to the literature since there are limited researches on BD and IL-4 gene.

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