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Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease

  • Maya B. Lodish EMAIL logo , Spyridon A. Mastroyannis , Ninet Sinaii , Sosipatros A. Boikos and Constantine A. Stratakis
Published/Copyright: January 17, 2012

Abstract

Decreased bone mineral density (BMD) has been documented in adults with Cushing disease (CD), and allelic variants of the vitamin D receptor (VDR) gene have been associated with osteopenia. Genetic factors play an important role in bone accrual and its response to various diseases; among them, the most studied are the allelic variants of the VDR gene. There is debate as to whether described variants in the VDR gene have an effect on BMD. In the current study, we sought to analyze whether BMD differences in patients with CD were associated with the Taq1 and Apa1 VDR allelotypes. The data showed lack of association between BMD and these widely studied VDR polymorphisms, suggesting that the effect of endogenous hypercortisolism on bone in the context of CD does not depend on VDR genotypes.


Corresponding author: Maya B. Lodish, Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, CRC, Room 1-3330, Building 10, 10 Center Drive, MSC1103, Bethesda, MD 20892, USA Phone: +1-301-496-4686, Fax: +1-301-402-0574

Received: 2011-7-25
Accepted: 2011-11-28
Published Online: 2012-01-17
Published in Print: 2012-02-01

©2012 by Walter de Gruyter Berlin Boston

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