THE POSSIBLE RELATIONSHIPS BETWEEN SOME GENE POLYMORPHISMS AND SJOGREN’S SYNDROME

Öz

Objective: Sjögren’s syndrome is a complex and widespread autoimmune disease whose pathogenesis is not fully elucidated and environmental and genetic factors affect the development of the disease. In order to reveal the effect of genetic contribution, studies have been conducted on the genes previously shown to play a role in other autoimmune diseases such as systemic lupus erythromatosus. In addition, two GWAS studies were conducted to investigate the role of more genes in the disease by screening the entire genome and the relationship of previously unknown genes with SS was shown. Result and Discussion: Studies are being conducted with spontaneous and genetically modified animal models in order to better reveal the relationship between SS and genes and to reinforce the data obtained from humans. In this study, the relationship between the genes previously studied in other autoimmune diseases and the genes associated with SS in GWAS studies and the possible pathways that may contribute to the pathogenesis of the disease through related genes were investigated.

Anahtar Kelimeler

• Autoiımmune disease
• gene polymorphisms
• genetic toxic effects
• genotoxicity
• Sjögren’s syndrome

SJÖGREN SENDROMU İLE BAZI GEN POLİMORFİZMLERİ ARASINDAKİ OLASI BAĞLANTILAR

Öz

Amaç: Sjögren sendromu hala patogenezisi tam olarak aydınlatılamamış, hastalık gelişimini çevresel ve genetik faktörlerin etkilediği kompleks ve yaygın bir otoimmün hastalıktır. Genetik katkının etkisini ortaya koymak için daha önce sistemik lupus eritromatozus gibi diğer otoimmün hastalıklarda rolü gösterilen genler üzerinde bu genlerin SS ile ilişkisini ortaya koymak için çalışmalar yapılmıştır. Ayrıca iki GWAS çalışmasıyla da tüm genom taranarak daha fazla genin hastalıkta rolü incelenmiş ve daha önce SS ile ilişkisi bilinmeyen genlerin SS ile ilişkisi gösterilmiştir. Sonuç ve Tartışma: SS’in genlerle ilişkisini daha iyi ortaya koymak ve insanlardan elde edilen verilerin pekiştirilmesi için spontan ve genetiği modifiye edilmiş hayvan modelleriyle de çalışmalar yürütülmektedir. Bu çalışmada daha önce diğer otoimmün hastalıklarda incelenen genler ile GWAS çalışmalarında ilişkili bulunan genlerin SS ile ilişkisi, ilişkili bulunan genler üzerinden hastalığın patogenezisine katkısı olabilecek olası yolaklar irdelenmiştir.

Anahtar Kelimeler

• Gen polimorfizmi
• genetik toksik etkiler
• genotoksisite
• otoimmün hastalık
• Sjögren sendromu

Kaynakça

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