Transcriptome-wide association study identifies novel genes associated with bone mineral density and lean body mass in children

摘要

Abstract Objective To identify novel candidate genes whose expression is associated with bone mineral density (BMD) and body lean mass (LM) in children.Methods A tissue-specific transcriptome-wide association study (TWAS) was conducted utilizing a large-scale genome-wide association study (GWAS) dataset associated with BMD and LM and involving 10,414 participants. The measurement of BMD and LM phenotypes was made based on total-body dual-energy X-ray absorptiometry (TB-DXA) scans. TWAS was conducted by using FUSION software. Reference panels for muscle skeleton (MS), peripheral blood (NBL) and whole blood (YBL) were used for TWAS analysis. Functional enrichment and protein–protein interaction (PPI) analyses of the genes identified by TWAS were performed by using the online tool Metascape (http://metascape.org).Results For BMD, we identified 174 genes with P?