| Description |
Congenital clubfoot ( CCF) is a common foot deformity in childhood, with the incidence of 0.1%-0.3%, and has a high disability rate. The etiology of CCF is unknown, but has a genetic predisposition. HOX gene , which was also called homeotic genes, regulate limb development in organisms. Our previous study found that HOXA9 has a significant difference in CCF group and control group. In order to further verify the role of HOX gene in the occurrence of CCF, we proposed a multi center and large sample case-control study to explore its relations with South Chinese CCF genetic susceptibility, and,using luciferase activity analysis, EMSA, CHIP method to explore the possible mechanism of functional SNP loci influencing potential gene transcription. Comprehensive analysis of the risk haplotypes, the influence of gene-gene and gene environment interaction on the occurrence of CCF, to explore the etiological variants and high-risk groups, so as to provide experimental support and theoretical basis for the pathogenesis of CCF, and provide a theoretical basis for CCF risk assessment and personalized treatment. |
