PPARα Kodlanmayan Bölge Polimorfizminin Aksiyal Spondiloartrit Gelişimine Katkısı

Bu çalışma peroksizom çoğaltıcılar tarafından aktive edilen reseptör alfa geninin 5’ ucu kodlanmayan bölge polimorfizminin aksiyel spondiloartrit hastalığının gelişimine olan katkısını araştırmayı ve hastalığın gelişim mekanizmasının aydınlatılmasına katkı sunmayı amaçlamaktadır. Çalışma 194 hasta ve 197 kontrol ile gerçekleştirildi. Örneklerden elde edilen DNA multipleks PCR sonrası matris aracılı lazer dezorpsiyon iyonizasyon uçuş zamanı kütle spektrometresi yöntemi kullanılarak genotipleme işlemi yapıldı. Elde edilen veriler lojistik regresyon ile analiz edildi. Bu çalışma ile analiz edilen beş polimorfik bölgenin üçü hastalık riski ile ilişkilendirildi. rs1800204 polimorfik bölgesinde A alelinin (p < 0.001), rs4253657 için C alelinin (p = 0.040) ve rs13909022 için C alelinin (p = 0.005) hastalık riski ile ilişkili olduğu tespit edildi. rs881740 polimorfik bölgesi için G aleli (p = 0.456) ve rs115640476 için A alelinin (p = 0.674) hastalık riski ile ilişkisi tespit edilemedi. Hastalık riski ile ilişkisi gösterilen PPARα 5’ kodlanmayan bölge polimorfizminin, hastalığın moleküler mekanizmanın aydınlatılmasına katkı sunacağı düşünülmektedir. Poligenik bir hastalık olan ax-SpA’de, PPARα’daki genetik değişikliklerin etkileştiği diğer genler üzerinde ortaya çıkaracağı etkilerin çalışılması hastalığın moleküler mekanizmasının tam olarak aydınlatılmasını sağlayacaktır. Anahtar Kelimeler: Aksiyal spondiloartrit; Peroksizom çoğaltıcılar tarafından aktive edilen reseptör alfa; Genetik yatkınlık; Hastalık riski.

Contribution of Polymorphism in PPARα Untranslated Region to The Development of Axial Spondyloarthritis

The study aimed to contribute to the overall understanding of axial spondyloarthritis by investigating the polymorphism in 5’ untranslated region of peroxisome proliferator-activated receptor alpha gene in patients. The study included 194 patients and 197 controls recruited. The DNA obtained from the samples was genotyped by multiplex Polymerase Chain Reaction and then Matrix-Assisted Laser Desorption Ionization- Time of Flight Mass Spectrometry. Data were analyzed by logistic regression. Five polymorphic regions analyzed in this study, three of the sites were associated with disease risk. An allele in the rs1800204 polymorphic region (p < 0.001), C allele in the rs4253657 polymorphic region (p = 0.040) and C allele in the rs13909022 polymorphic region (p = 0.005) were associated with disease risk. The association of disease risk could not be detected with G and A alleles in the rs881740 (p = 0.456) and rs115640476 (p = 0.674) polymorphic regions, respectively. PPARα 5' untranslated region polymorphism, which is shown to be associated with disease risk, is thought to contribute to the elucidation of the molecular mechanism of the disease. In axial spondyloarthritis, studying the effects of genetic changes in PPARα on other genes with which it interacts will contribute to the full understanding of the molecular mechanism of the disease. Keywords: Axial spondyloarthritis; Peroxisome proliferator activated receptor alpha; Genetic predisposition; Disease risk.

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