Abstract
LCPD (Legg‐Calve‐Perthes disease) is a kind of osteonecrosis of the hip found only in children. It has been associated with few genetic mutations and rather with obesity and thrombosis. This study was designed to investigate whether epigenetic alteration might be related with its etiology. We analyzed DNA methylation in genes commonly involving cartilage, obesity, and thrombosis in blood from patients and healthy donors (HD) using the quantitative MassArray analysis. Total 6 amplicons covering the promoters of Col2A1, FII, FV, and FVIII genes were measured for DNA methylation. All genes, except FVIII, showed no difference between LCPD and HD. Also, the difference in FVIII was significant, but was only about 1%, which might not result in any changes physiologically.Therefore, the results suggested that the genes might be disturbed in the pathogenesis of LCPD, at least not by epigenetic alterations, although this study was, to our knowledge, the first trial to investigate the involvement of epigenetic alterations in LCPD.Grant Funding Source: supported by Korean NRF (22A20130012143) & Korean HealthTech R&D(HI11C0388)
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