title: Known VDR polymorphisms are not associated with bone mineral density measures in pediatric Cushing disease.
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.affiliation: 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
authors.forename: Maya B
authors.initials: MB
authors.lastname: Lodish
authors.forename: Spyridon A
authors.initials: SA
authors.lastname: Mastroyannis
authors.forename: Ninet
authors.initials: N
authors.lastname: Sinaii
authors.forename: Sosipatros A
authors.initials: SA
authors.lastname: Boikos
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000293:Adolescent; D015519:Bone Density; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D047748:Pituitary ACTH Hypersecretion / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol