rs10835489 - LINC02742 - LINC02755

Magnitude 2.2 · 1 study on file

Reported associations

• Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis - Unknown journal (n.d.) · Unknown authors · PubMed 28869591

  ABSTRACT: Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral density (BMD). We undertook a genome-wide association study in 142,487 individuals from the UK Biobank to identify loci associated with BMD estimated by quantitative ultrasound of the heel ("eBMD"). We identified 307 conditionally independent SNPs attaining genome-wide significance at 203 loci, explaining approximately 12% of the phenotypic variance. These included 153 novel loci, and several rare variants with large effect sizes. To investigate underlying mechanisms we undertook: 1) bioinformatic, functional genomic annotation and human osteoblast expression studies; 2) gene function prediction; 3) skeletal phenotyping of 120 knockout mice with deletions of genes adjacent to lead independent

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