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Genome-wide Association Studies for Osteoporosis: A 2013 Update
Hong-Wen Deng,Lei Zhang,Christopher J. Papasian,Hong-Wen Deng 대한골대사학회 2014 대한골대사학회지 Vol.21 No.2
In the past few years, the bone field has witnessed great advances in genome-wide as-sociation studies (GWASs) of osteoporosis, with a number of promising genes identified. In particular, meta-analysis of GWASs, aimed at increasing the power of studies by com-bining the results from different study populations, have led to the identification of nov-el associations that would not otherwise have been identified in individual GWASs. Re-cently, the first whole genome sequencing study for osteoporosis and fractures waspublished, reporting a novel rare nonsense mutation. This review summarizes the im-portant and representative findings published by December 2013. Comments are madeon the notable findings and representative studies for their potential influence and im-plications on our present understanding of the genetics of osteoporosis. Potential limi-tations of GWASs and their meta-analyses are evaluated, with an emphasis on under-standing the reasons for inconsistent results between different studies and clarificationof misinterpretation of GWAS meta-analysis results. Implications and challenges ofGWAS are also discussed, including the need for multi- and inter-disciplinary studies.
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