Expressive

rs10480747 - CPED1

Magnitude 2.2 · 2 studies on file

Reported associations

  • A longitudinal genome-wide association study of bone mineral density mean and variability in the UK Biobank. - Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2023) · He D, Liu H, Wei W, Zhao Y, Cai Q, Shi S, Chu X, Qin X, Zhang N, Xu P, Zhang F · PubMed 37500982

    Bone mineral density (BMD) is an essential predictor of osteoporosis and fracture. We conducted a genome-wide trajectory analysis of BMD and analyzed the BMD change. This study aimed to identify the genetic architecture and potential biomarkers of BMD. Our analysis included 141,261 white participants from the UK Biobank with heel BMD phenotype data. We used a genome-wide trajectory analysis tool, TrajGWAS, to conduct a genome-wide association study (GWAS) of BMD. Then, we validated our findings in previously reported BMD genetic associations and performed replication analysis in the Asian participants. Finally, gene-set enrichment analysis (GSEA) of the identified candidate genes was conducted using the FUMA platform. A total of 52 genes associated with BMD trajectory mean were identified,

  • A Genome-Wide Association Study Identifies Two Sex-specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites - Unknown journal (n.d.) · Unknown authors · PubMed 28181694

    ABSTRACT: Failure to achieve optimal bone mineral accretion during childhood and adolescence results in subsequent suboptimal peak bone mass, contributing to osteoporosis risk later in life. To identify novel genetic factors that influence pediatric bone mass at discrete skeletal sites, we performed a sex-stratified genome-wide association study of areal bone mineral density (BMD) measured by dual energy X-ray absorptiometry at the 1/3 distal radius, spine, total hip and femoral neck in a cohort of 933 healthy European American children. We took forward signals with P<5x10−5 and minor allele frequency (MAF) >5% into an independent cohort of 486 European American children in search of replication. In doing so, we identified five loci that achieved genome wide significance in the combined

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