Genetics of osteoporosis from genome-wide association studies: advances and challenges
Osteoporosis is among the most common and costly diseases and is increasing in
prevalence owing to the ageing of our global population. Clinically defined largely through …
prevalence owing to the ageing of our global population. Clinically defined largely through …
Update on bone anabolics in osteoporosis treatment: rationale, current status, and perspectives
R Baron, E Hesse - The Journal of Clinical Endocrinology & …, 2012 - academic.oup.com
Osteoporosis is defined as low bone mineral density associated with skeletal fractures
secondary to minimal or no trauma, most often involving the spine, the hip, and the forearm …
secondary to minimal or no trauma, most often involving the spine, the hip, and the forearm …
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed
the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 …
the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 …
Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population
Age-related changes in DNA methylation have been implicated in cellular senescence and
longevity, yet the causes and functional consequences of these variants remain unclear. To …
longevity, yet the causes and functional consequences of these variants remain unclear. To …
WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk
We aimed to identify genetic variants associated with cortical bone thickness (CBT) and
bone mineral density (BMD) by performing two separate genome-wide association study …
bone mineral density (BMD) by performing two separate genome-wide association study …
Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis
MC Castaño Betancourt, F Cailotto… - Proceedings of the …, 2012 - National Acad Sciences
Hip osteoarthritis (HOA) is one of the most disabling and common joint disorders with a large
genetic component that is, however, still ill-defined. To date, genome-wide association …
genetic component that is, however, still ill-defined. To date, genome-wide association …
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 …
A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts
N Van Leeuwen, G Nijpels, ML Becker, H Deshmukh… - Diabetologia, 2012 - Springer
Aims/hypothesis In this study we aimed to replicate the previously reported association
between the glycaemic response to metformin and the SNP rs11212617 at a locus that …
between the glycaemic response to metformin and the SNP rs11212617 at a locus that …
The empirical power of rare variant association methods: results from sanger sequencing in 1,998 individuals
M Ladouceur, Z Dastani, YS Aulchenko… - PLoS …, 2012 - journals.plos.org
The role of rare genetic variation in the etiology of complex disease remains unclear.
However, the development of next-generation sequencing technologies offers the …
However, the development of next-generation sequencing technologies offers the …
Rapid-throughput skeletal phenotyping of 100 knockout mice identifies 9 new genes that determine bone strength
JHD Bassett, A Gogakos, JK White, H Evans… - 2012 - journals.plos.org
Osteoporosis is a common polygenic disease and global healthcare priority but its genetic
basis remains largely unknown. We report a high-throughput multi-parameter phenotype …
basis remains largely unknown. We report a high-throughput multi-parameter phenotype …