Genetics of osteoporosis from genome-wide association studies: advances and challenges

JB Richards, HF Zheng, TD Spector - Nature Reviews Genetics, 2012 - nature.com
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 …

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 …

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

K Estrada, U Styrkarsdottir, E Evangelou, YH Hsu… - Nature …, 2012 - nature.com
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 …

Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population

JT Bell, PC Tsai, TP Yang, R Pidsley, J Nisbet… - PLoS …, 2012 - journals.plos.org
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 …

WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk

HF Zheng, JH Tobias, E Duncan, DM Evans… - PLoS …, 2012 - journals.plos.org
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 …

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 …

Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed

YH Hsu, DP Kiel - The Journal of Clinical Endocrinology & …, 2012 - academic.oup.com
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 …

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 …

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 …

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 …