Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

JP Kemp, JA Morris, C Medina-Gomez, V Forgetta… - Nature …, 2017 - nature.com
Osteoporosis is a common disease diagnosed primarily by measurement of bone mineral
density (BMD). We undertook a genome-wide association study (GWAS) in 142,487 …

[HTML][HTML] Characterisation of genetic regulatory effects for osteoporosis risk variants in human osteoclasts

BH Mullin, J Tickner, K Zhu, J Kenny, S Mullin… - Genome biology, 2020 - Springer
Background Osteoporosis is a complex disease with a strong genetic contribution. A recently
published genome-wide association study (GWAS) for estimated bone mineral density …

An atlas of genetic influences on osteoporosis in humans and mice

JA Morris, JP Kemp, SE Youlten, L Laurent, JG Logan… - Nature …, 2019 - nature.com
Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral
density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative …

[HTML][HTML] Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture

SK Kim - PloS one, 2018 - journals.plos.org
Low bone mineral density (BMD) leads to osteoporosis, and is a risk factor for bone
fractures, including stress fractures. Using data from UK Biobank, a genome-wide …

Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium

A Moayyeri, YH Hsu, D Karasik… - Human molecular …, 2014 - academic.oup.com
Quantitative ultrasound of the heel captures heel bone properties that independently predict
fracture risk and, with bone mineral density (BMD) assessed by X-ray (DXA), may be …

[HTML][HTML] Integrating GWAS and co-expression network data identifies bone mineral density genes SPTBN1 and MARK3 and an osteoblast functional module

GM Calabrese, LD Mesner, JP Stains, SM Tommasini… - Cell systems, 2017 - cell.com
Bone mineral density (BMD) is a highly heritable predictor of osteoporotic fracture. Genome-
wide association studies (GWAS) for BMD have identified dozens of associations; yet, the …

[HTML][HTML] Linkage of Osteoporosis to Chromosome 20p12 and Association to BMP2

U Styrkarsdottir, JB Cazier, A Kong, O Rolfsson… - PLoS …, 2003 - journals.plos.org
Osteoporotic fractures are a major cause of morbidity and mortality in ageing populations.
Osteoporosis, defined as low bone mineral density (BMD) and associated fractures, have …

[HTML][HTML] An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related …

YH Hsu, MC Zillikens, SG Wilson, CR Farber… - PLoS …, 2010 - journals.plos.org
Osteoporosis is a complex disorder and commonly leads to fractures in elderly persons.
Genome-wide association studies (GWAS) have become an unbiased approach to identify …

[HTML][HTML] Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone …

JP Kemp, C Medina-Gomez, K Estrada… - PLoS …, 2014 - journals.plos.org
Heritability of bone mineral density (BMD) varies across skeletal sites, reflecting different
relative contributions of genetic and environmental influences. To quantify the degree to …

The genetic architecture of osteoporosis and fracture risk

K Trajanoska, F Rivadeneira - Bone, 2019 - Elsevier
Osteoporosis and fracture risk are common complex diseases, caused by an interaction of
numerous disease susceptibility genes and environmental factors. With the advances in …