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Insights into the genetics of osteoporosis from recent genome-wide association studies

Published online by Cambridge University Press:  26 August 2011

Hou-Feng Zheng ,
Timothy D. Spector  and
J. Brent Richards
Hou-Feng Zheng
Affiliation:
Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, Jewish General Hospital, McGill University, Montreal, Quebec, Canada.
Timothy D. Spector
Affiliation:
Department of Twin Research ad Genetic Epidemiology, King's College London, London, UK.
J. Brent Richards*
Affiliation:
Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, Jewish General Hospital, McGill University, Montreal, Quebec, Canada. Department of Twin Research ad Genetic Epidemiology, King's College London, London, UK.
*
*Corresponding author: J. Brent Richards, 3755 Côte Ste-Catherine Road, Montreal, Québec, CanadaH3T 1E2. E-mail:brent.richards@mcgill.ca
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Abstract

Osteoporosis, which is characterised by reduced bone mineral density (BMD) and an increased risk of fragility fractures, is the result of a complex interaction between environmental factors and genetic variants that confer susceptibility. Heritability studies have shown that BMD and other osteoporosis-related traits such as ultrasound properties of bone, skeletal geometry and bone turnover have significant inheritable components. Although previous linkage and candidate gene studies have provided few replicated loci for osteoporosis, genome-wide association approaches have produced clear and reproducible findings. To date, 20 genome-wide association studies (GWASs) for osteoporosis and related traits have been conducted, identifying dozens of genes. Further meta-analyses of GWAS data and deep resequencing of rare variants will uncover more novel susceptibility loci and ultimately provide possible therapeutic targets for fracture prevention.

Type
Review Article
Information
Expert Reviews in Molecular Medicine , Volume 13 , March 2011 , e28
Copyright
Copyright © Cambridge University Press 2011

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