Akbulut, EkremYolbas, SOzgen, M2022-03-102022-03-102021Akbulut, E., Yolbas, S., & Ozgen, M. (2021). The role of A268V exon-7 polymorphism of PPARA in development of axial spondyloarthritis. Turkish Journal of Biochemistry.https://hdl.handle.net/20.500.12899/584Objectives: Axial spondyloarthritis (axSpA) is a chronic inflammatory disease that mainly affects the axial skeleton. Peroxisome proliferator activated receptor alpha (PPARA) is an intracellular transcription factor, which play a role in inflammation and osteoblasting activity. This study is designed to investigate the relationship of NG_012204.2:p.A1a268Val polymorphism of PPARA with axSpA risk and its role in disease development. Methods: This study was conducted with 168 patients and 181 controls. Genotyping was done with MALDITOF. Gene expression level was analyzed by quantitative real time PCR (RT-qPCR). The protein homology models of PPARA were created with ProMod3. Ligand binding dynamics were tested using the AutoDock4 docking program. Statistical evaluations were made with SPSS (ver24) and GeneGlobe. Results: Our results showed that C>T polymorphism causing NG_012204.2:p.A1a268Val change was associated with disease risk (p=0.024) and T allele increased disease risk 1.7 times (95% CI=1.070-2.594). PPARA expression decreased (p<0.05) in individuals carrying the T allele. We determined that the ligand entry pocket was opened 1.1 A in the polymorphic PPARA. Polymorphic change caused a decrease in the ligand binding affinity. Conclusions: Our results provide an important contribution to elucidating the development of axSpA and demonstrate the potential of PPARA as a marker for the diagnosis of axSpA.eninfo:eu-repo/semantics/openAccessaxial spondyloarthritisdisease riskinflammationperoxisome proliferator activated receptor alphapolymorphismArticle10.1515/tjb-2021-00861031112-s2.0-85126303080WOS:000740003400001Q4