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

Maya Lodish | Zendy; Spyridon Mastroyannis | Zendy; Ninet Sinaii | Zendy; Sosipatros A. Boikos | Zendy; Constantine A. Stratakis | Zendy

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

Author(s) -

Maya Lodish,

Spyridon Mastroyannis,

Ninet Sinaii,

Sosipatros A. Boikos,

Constantine A. Stratakis

Publication year - 2012

Publication title -

journal of pediatric endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.502

H-Index - 65

eISSN - 2191-0251

pISSN - 0334-018X

DOI - 10.1515/jpem-2011-0364

Subject(s) - calcitriol receptor , bone mineral , medicine , endocrinology , osteopenia , vitamin d and neurology , allele , context (archaeology) , genotype , polymorphism (computer science) , osteoporosis , gene , genetics , biology , paleontology

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.

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