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 Apal 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.

Authors

Lodish MB, Mastroyannis SA, Sinaii N, Boikos SA, Stratakis CA

Institution

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, Bethesda, MD 20892, USA. lodishma@mail.nih.gov

Source

Journal of pediatric endocrinology & metabolism : JPEM 25:1-2 2012 pg 221-3

MeSH

Adolescent
Bone Density
Child
Female
Humans
Male
Pituitary ACTH Hypersecretion
Polymorphism, Genetic
Receptors, Calcitriol

Pub Type(s)

Journal Article
Research Support, N.I.H., Intramural

Language

eng

PubMed ID

22570981