Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed
Context: The primary goals of genome-wide association studies (GWAS) are to discover new
molecular and biological pathways involved in the regulation of bone metabolism that can …
molecular and biological pathways involved in the regulation of bone metabolism that can …
An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits
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 …
Genome-wide association studies (GWAS) have become an unbiased approach to identify …
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density
Aiming to identify novel genetic variants and to confirm previously identified genetic variants
associated with bone mineral density (BMD), we conducted a three-stage genome-wide …
associated with bone mineral density (BMD), we conducted a three-stage genome-wide …
Expression quantitative trait locus study of bone mineral density GWAS variants in human osteoclasts
Osteoporosis is a complex disease with a strong genetic component. Genomewide
association studies (GWAS) have been very successful at identifying common genetic …
association studies (GWAS) have been very successful at identifying common genetic …
Perspective of the GEMSTONE consortium on current and future approaches to functional validation for skeletal genetic disease using cellular, molecular and animal …
M Rauner, I Foessl, MM Formosa, E Kague… - Frontiers in …, 2021 - frontiersin.org
The availability of large human datasets for genome-wide association studies (GWAS) and
the advancement of sequencing technologies have boosted the identification of genetic …
the advancement of sequencing technologies have boosted the identification of genetic …
Robust and comprehensive analysis of 20 osteoporosis candidate genes by very high‐density single‐nucleotide polymorphism screen among 405 white nuclear …
DH Xiong, H Shen, LJ Zhao, P Xiao… - Journal of Bone and …, 2006 - academic.oup.com
Many “novel” osteoporosis candidate genes have been proposed in recent years. To
advance our knowledge of their roles in osteoporosis, we screened 20 such genes using a …
advance our knowledge of their roles in osteoporosis, we screened 20 such genes using a …
A multiethnic whole genome sequencing study to identify novel loci for bone mineral density
At present, there have only been a few DNA sequencing-based studies to explore the
genetic determinants of bone mineral density (BMD). We carried out the largest whole …
genetic determinants of bone mineral density (BMD). We carried out the largest whole …
Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications
Osteoporosis is a common skeletal disease, affecting~ 200 million people around the world.
As a complex disease, osteoporosis is influenced by many factors, including diet (eg calcium …
As a complex disease, osteoporosis is influenced by many factors, including diet (eg calcium …
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass …
Heritability of bone mineral density (BMD) varies across skeletal sites, reflecting different
relative contributions of genetic and environmental influences. To quantify the degree to …
relative contributions of genetic and environmental influences. To quantify the degree to …
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 …
published genome-wide association study (GWAS) for estimated bone mineral density …