A genome-wide scan for pleiotropy between bone mineral density and nonbone phenotypes.

ABSTRACT: Osteoporosis is the most common metabolic bone disorder globally and is characterized by skeletal fragility and microarchitectural deterioration. Genetic pleiotropy occurs when a single genetic element is associated with more than one phenotype. We aimed to identify pleiotropic loci associated with bone mineral density (BMD) and nonbone phenotypes in genome-wide association studies. In the discovery stage, the NHGRI-EBI Catalog was searched for genome-wide significant associations (P value < 5 × 10^-8), excluding bone-related phenotypes. SNiPA was used to identify proxies of the significantly associated single nucleotide polymorphisms (SNPs) (r ² = 1). We then assessed putative genetic associations of this set of SNPs with femoral neck (FN) and lumbar spi

SUBMITTER: Christou MA 

PROVIDER: S-EPMC7329904 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature