Cengiz Ekrem SEYHAN, Erdoğan ÇETİNKAYA, Sedat ALTIN, Halim İŞSEVER, Zeki GÜNLÜOĞLU, Vedat YÜKSEL

Vascular endothelial growth factor and tumor necrosis factor genes polymorphisms in Turkish patients with sarcoidosis

Çalışmamızda, sarkoidoz gelişiminde predispozan bir faktör olduğu düşünülen ve hastalığın patogenezinde önemli bir rolü olan, tümör nekrozis faktör (TNF) genindeki -857 gen polimorfizmi ile, sarkoidoza yatkınlığı azalttığı düşünülen vasküler endotel büyüme faktör (VEGF) genindeki +813 polimorfizmi varlığını, sarkoidozlu ve sağlıklı Türk populasyonunda karşılaştırılmalı olarak incelemek amaçlanmıştır. METOD: Sarkoidoz tanısı histopatolojik olarak konulmuş 70 olgu ile herhangi bir kronik hastalık öyküsü olmayan sağlıklı 80 olgu çalışmaya alınmıştır. Olgulardan 5 cc EDTA’lı kan örnekleri alındıktan sonra DNA izolasyonunu takiben PCR+RFLP yöntemi ile TNF-857 ve VEGF+813 gen polimorfizmlerin varlığı araştırılmıştır. BULGULAR: TNF genindeki -857 gen polimorfizmi açısından hastalar ve kontrol olgular arasında fark görülmezken, bu poliformizme sahip olan hastalarda daha fazla relaps olduğu belirlenmiştir. VEGF genindeki +813 polimorfizminin sağlıklı olgularda anlamlı şekilde yüksek olduğu saptanmıştır. SONUÇ: VEGF geninin +813 lokalizasyonunda polimorfizminin sarkoidoza olan yatkınlığı azaltabileceği, TNF geninin -857 polimorfizminin ise hastalık şiddetini artırdığını düşündürmektedir.

Sarkoidozlu Türk hastalarda vasküler endotelyal büyüme faktörü (VEGF) ve tümör nekroz faktörü (TNF) gen polimorfizmi

Polymorphism at -857 locus of tumor necrosis factor (TNF)- α gene is considered to be a predisposition factor in sarcoidosis and held responsible for pathogenesis of the disease and polymorphism at +813 locus of vascular endothelial growth factor (VEGF) gene is thought to decrease predisposition to sarcoidosis. In our study, we examined and compared these polymorphisms in healthy Turkish control subjects and Turkish patients with sarcoidosis. We examined gene polymorphisms in 70 cases which were histopathologically diagnosed as sarcoidosis and 80 healthy subjects without any history of a chronic disease. 5 cc of blood were collected in tubes with EDTA from all of the cases. TNF-α-857 gene polymorphism and VEGF+813 gene polymorphism were determined using PCR + RFLP method after DNA isolation. TNF-α promoter polymorphism, at position -857, revealed no differences in genotype and allele frequency between patients and control subjects but more relapses were found in sarcoidosis patients who have this polymorphism. Considering the VEGF polymorphism at position +813, we observed a significant increase in the frequency of rarer T allele at this position in healthy subjects compared with sarcoidosis patients. VEGF gene polymorphism at +813 locus may diminish susceptibility to sarcoidosis. TNF-α-857 gene polymorphism influence severity of the disease.

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