13. Human Genome-Wide Association (GWA) Studies

  1. Clifford J. Rosen MD
  1. Douglas P. Kiel

Published Online: 19 JUL 2013

DOI: 10.1002/9781118453926.ch13

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition

How to Cite

Kiel, D. P. (2013) Human Genome-Wide Association (GWA) Studies, in Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism, Eighth Edition (ed C. J. Rosen), John Wiley & Sons, Inc., Ames, USA. doi: 10.1002/9781118453926.ch13

Publication History

  1. Published Online: 19 JUL 2013

ISBN Information

Print ISBN: 9781118453889

Online ISBN: 9781118453926

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Keywords:

  • bone mineral density (BMD);
  • genome-wide association (GWA);
  • single nucleotide polymorphism (SNP);
  • skeletal genetics

Summary

Twin and family studies have demonstrated that bone mineral density (BMD), one of the most commonly studied bone phenotypes, is highly heritable, as is bone geometry and bone ultrasound measures. Within the past five years, the field of skeletal genetics has moved into the era of genome-wide association (GWA) studies. GWA studies use high throughput genotyping of hundreds of thousands and even millions of the most common form of genetic variant, the single nucleotide polymorphism (SNP), and relate these SNPs to various phenotypes. One of the challenges of the collaborative GWA study efforts includes proper harmonization of phenotypes to minimize measurement heterogeneity. The future of GWA studies for the field of skeletal genetics remains promising. The next steps will involve a more thorough testing of the identified loci for discovery of the functional variants, finer mapping and sequencing of promising loci, and studies of gene and environment interactions.