Frontiers in Genetics
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Background: Genome-wide association studies (GWASs) routinely identify loci associated with risk factors for osteoporosis. However, GWASs with relatively small sample sizes still lack sufficient power to ascertain the majority of genetic variants with small to modest effect size, which may together truly influence the phenotype. The loci identified only account for a small percentage of the heritability of osteoporosis. This study aims to identify novel genetic loci associated with DXA-derived femoral neck (FNK) bone mineral density (BMD) and quantitative ultrasound of the heel calcaneus estimated BMD (eBMD), and to detect shared/causal variants for the two traits, to assess whether the SNPs or putative causal SNPs associated with eBMD were also associated with FNK-BMD. Methods: Novel loci associated with eBMD and FNK-BMD were identified by the genetic pleiotropic conditional false discovery rate (cFDR) method. Shared putative causal variants between eBMD and FNK-BMD and putative causal SNPs for each trait were identified by the colocalization method. Mendelian randomization analysis addresses the causal relationship between eBMD/FNK-BMD and fracture. Results: We identified 9,500... (see full abstract in article)
Osteoporosis; cFDR; Colocalization analysis; Mendelian randomization; Pleiotropic; Causal
Genetics | Osteopathic Medicine and Osteopathy
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Schiller, M. R.,
Identifying Pleiotropic SNPs Associated With Femoral Neck and Heel Bone Mineral Density.
Frontiers in Genetics, 11