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PPAR Research
Volume 2006, Article ID 93258, 8 pages
http://dx.doi.org/10.1155/PPAR/2006/93258
Research Article

The Genetics of PPARG and the Skeleton

1The Jackson Laboratory, Bar Harbor ME 04609, USA
2St. Joseph's Hospital, The Maine Center for Osteoporosis Research and Education, Bangor ME 04401, USA

Received 31 March 2006; Revised 27 June 2006; Accepted 5 July 2006

Copyright © 2006 Cheryl Ackert-Bicknell and Clifford Rosen. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Osteoporosis is a complex metabolic bone disorder. Recently it has been appreciated that the “obesity in bone” phenomenon occurs at the expense of bone formation, and that is a key component of the pathology of this disease. Mouse models with altered bone expression levels of peroxisome proliferator-activated receptor gamma (PPARG) impact bone formation, but genetic studies connecting PPARG polymorphisms to skeletal phenotypes in humans have proven to be less than satisfactory. One missense polymorphism in exon one has been linked to low bone mineral density (BMD), but the most studied polymorphism, Pro12Ala, has not yet been examined in the context of skeletal phenotype. The studies to date are a promising start in leading to our understanding of the genetic contribution of PPARG to the phenotypes of BMD and fracture risk.