Identifying the role of RUNX2 in bone development through network analysis in girls with central precocious puberty

Abstract

Background Precocious puberty is a disease in which secondary sexual characteristics develop early in children before the age of 8 and 9 years in girls and boys, respectively. Central precocious puberty (CPP) is diagnosed with the early activation of the hypothalamic-pituitary-gonadal axis with a female predominance. Bone age measurement, along with assessments of physical changes, is one of the primary diagnostic methods for CPP to evaluate growth and maturity. Objective This study investigated the expression levels of genes related to bone development in the blood of girls with CPP compared with normal girls. Results Bone development-related genes were identified, and 5 major genes (RUNX2, TGFB1, VEGFA, IGF1, and CTNNB1) associated with bone development and CPP were selected through literature-based network analyses. The expression levels of RUNX2, CTNNB1, and TGFB1 were upregulated in the CPP group compared with the control group. Overall, the expression of RUNX2 showed a significant positive correlation with bone age. Conclusions This study is the first to examine the association between gene expression changes in the blood and bone development, one of the major features of CPP, through an integrated genomic approach. Our study suggests that biological analyses using blood samples for various diseases may be performed for clinical diagnosis.