Intractable Rare Dis Res. 2022;11(2):70-80. (DOI: 10.5582/irdr.2022.01043)

Comprehensive bioinformatics analysis of susceptibility genes for developmental dysplasia of the hip

Yang W, Jin G, Qian K, Zhang C, Zhi W, Yang D, Lu Y, Han J

Developmental dysplasia of the hip (DDH) is a multifactorial disease, which occurs under environmental and genetic influence. The etiopathogenesis of DDH has not been fully explained. As research progresses, many candidate genes have been found to be closely related to the occurrence of DDH. In this study, we comprehensively examined 16 susceptibility genes of DDH using bioinformatics. COL1A1 encodes the pro-alpha1 chains of type I collagen, which is the major protein component of the bone extracellular matrix (ECM). The genes displaying the most statistically significant co-expression link to COL1A1 are ASPN, TGFB1, DKK1, IL-6, TENM3 and GDF5. DKK1, FRZB and WISP3 are components of the Wnt signaling pathway. CX3CR1 and GDF5 regulate chondrogenesis through the canonical Wnt signaling pathway. ASPN could induce collagen mineralization through binding with collagen and calcium. Integrated bioinformatics analysis indicates that ECM, Wnt signaling pathway and TGF-β signaling pathway are involved in the occurrence of DDH. These provide a basis for further exploring the pathogenesis of DDH.

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