Gene Expression and RNA Splicing Imputation Identifies Novel Candidate Genes Associated with Osteoporosis.

ABSTRACT: Though genome-wide association studies (GWASs) have identified hundreds of genetic variants associated with osteoporosis related traits, such as bone mineral density (BMD) and fracture, it remains a challenge to interpret their biological functions and underlying biological mechanisms. Integrate diverse expression quantitative trait loci and splicing quantitative trait loci data with several powerful GWAS datasets to identify novel candidate genes associated with osteoporosis. Here, we conducted a transcriptome-wide association study (TWAS) for total body BMD (TB-BMD) (n = 66 628 for discovery and 7697 for validation) and fracture (53 184 fracture cases and 373 611 controls for discovery and 37 857 cases and 227 116 controls for validation), respectively. We also conducted multi-SNP-based

SUBMITTER: Liu Y 

PROVIDER: S-EPMC7736639 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature