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CAG Repeat Polymorphism in Relation to Bone Mass, Metabolism, and Fractures: Review

Joseph, Cherian MD*; Kenny, Anne M. MD†

CME Review Article #1

The number of polyglutamine repeats at the amino terminal determine the androgen receptor polymorphism. The number of polyglutamine repeats is influenced by the number of CAG repeats in the androgen receptor gene. Studies have evaluated the association between CAG repeat polymorphism and bone mineral density, bone turnover markers, and fractures. Both men and women were studied. While differences in CAG repeat polymorphism appear to affect androgen receptor function, the current data do not indicate any consistent effect of androgen receptor gene polymorphism on bone. This could be secondary to a small effect of polymorphism in a complex polygenic disease such as osteoporosis and may require much more extensive study.

*Instructor, Center on Aging, †Assistant Professor of Medicine, Division of Geriatrics, University of Connecticut Health Center, Farmington, Connecticut.

The authors have disclosed that they have no significant relationships with or financial interests in any commercial company that pertains to this educational activity.

Reprints: Cherian Joseph, MD, Center on Aging, MC-5215, University of Connecticut Health Center, Farmington, CT 06030-5215. E-mail:

Chief Editor’s Note: This article is the 1st of 36 that will be published in 2005 for which a total of up to 36 Category 1 CME credits can be earned. Instructions for how credits can be earned precede the CME Examination at the back of this issue.

© 2005 Lippincott Williams & Wilkins, Inc.