Studies link key genes to low bone density in children, raising hopes for earlier interventions
Philadelphia researchers identify genetic drivers of bone growth and fracture risk
ANKARA
Researchers at the Children’s Hospital of Philadelphia (CHOP) have identified several genetic factors associated with low bone density in children and adolescents, findings that could lead to earlier interventions and improved lifelong bone health.
In a study published in Genome Biology, scientists examined genetic signals previously tied to bone mineral density in large genome-wide association studies, News Medical reported Wednesday.
Using CRISPRi -- a tool that suppresses gene expression without cutting DNA -- the team identified four genes (ARID5B, CC2D1B, EIF4G2 and NCOA3) that influence how osteoblasts mature. Osteoblasts are responsible for forming new bone, a process that peaks during childhood and adolescence.
The researchers also found that many bone-related genetic signals may affect other tissues, suggesting broader implications for children’s health.
“With this information, our hope is to further study these signals specifically in pediatrics and help identify which children are more likely to get a fracture to optimize their bone health for life,” said senior study author Struan F.A. Grant.
A second study, published in the Journal of Bone and Mineral Research, evaluated a polygenic risk score known as gSOS, previously used to predict fracture risk in adults.
Using long-term data from the Bone Mineral Density in Childhood Study and CHOP’s Center for Applied Genomics, researchers reported that higher gSOS scores were linked to greater bone density at multiple skeletal sites and a reduced risk of fractures -- even when accounting for diet, puberty stage, body size and past injuries.
The findings suggest that genetics play a significant role in bone strength across a lifetime, and may eventually help clinicians identify children at elevated fracture risk and tailor early interventions along with diet and weight-bearing exercise.
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