Predictive genetic markers of coagulation, inflammation and apoptosis in Perthes disease—Serbian experience

European Journal of Pediatrics
Sanja SrzentićVesna Spasovski

Abstract

Perthes disease is one of the most common forms of pediatric femoral head osteonecrosis with an unknown etiology. Coagulation factors were the first genetic factors suspected to have a role in the pathogenesis of this disease, but studies showed inconsistent results. It is described that inflammation is present during early stages of Perthes disease, but its genetic aspect has not been studied extensively. Little is known regarding the status of apoptotic factors during the repair process that leads to the occurrence of hip deformity in patients. Therefore, the aim of this study was to analyze major mediators involved in coagulation, inflammation, and apoptotic processes as possible causative factors of Perthes disease. The study cohort consisted of 37 patients. Gene variants of TNF-α, FV, FII, and MTHFR genes were determined by PCR-RFLP, while IL-3 and PAI-1 were genotyped by direct sequencing. The expression level of Bax, Bcl-2, Bcl2L12, Fas and FasL was analyzed by quantitative reverse-transcriptase polymerase chain reaction (qRT-PCR) technique. Our results showed a significantly increased level of expression of pro-apoptotic factor Bax along with significantly higher Bax/Bcl-2 ratio in the patient group. The results present...Continue Reading

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Citations

Oct 4, 2018·International Forum of Allergy & Rhinology·Yun-Fang AnPing-Chang Yang
Jul 18, 2019·Health & Social Care in the Community·Marija JoldicZorica Terzic-Supic
Jun 11, 2019·Molecular Medicine Reports·Hui ZhuYuping Tang
Mar 29, 2019·World Journal of Orthopedics·Vito PavoneGianluca Testa
Apr 7, 2019·Nature Reviews. Rheumatology·Richard L MeesonAndrew A Pitsillides
Feb 27, 2018·Clinical Orthopaedics and Related Research·Yasmin D Hailer, Nils P Hailer

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