title: Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia.
abstract: We examined the effect of vitamin D receptor (VDR) polymorphisms at exon 2 (FokI) and intron 8 (BsmI) on the stature and bone mineral density at femoral neck (FBMD) and lumbar spine (LBMD) in 108 prepubertal and pubertal homozygous beta thalassaemic patients, regularly treated. We found significantly shorter stature and lower LBMD and FBMD in all patients with CC VDR genotype, and significant shorter height and lower LBMD in prepubertal and pubertal female patients with BB VDR genotype. Because homozygous CC and BB VDR genotypes influence Vitamin D activity, they can be considered additional risk factors for bone disease in beta thalassaemia.
authors.affiliation: Department of Pediatrics, The 2nd University of Naples, Via S. Andrea delle Dame no4, 80138 Naples, Italy. mara.ferrara@unina2.it
authors.forename: Mara
authors.initials: M
authors.lastname: Ferrara
authors.forename: Sofia M R
authors.initials: SM
authors.lastname: Matarese
authors.forename: Matteo
authors.initials: M
authors.lastname: Francese
authors.forename: Barbara
authors.initials: B
authors.lastname: Borrelli
authors.forename: Antonietta
authors.initials: A
authors.lastname: Coppola
authors.forename: Lina
authors.initials: L
authors.lastname: Coppola
authors.forename: Luigi
authors.initials: L
authors.lastname: Esposito
mesh_terms: D000293:Adolescent; D000328:Adult; D000704:Analysis of Variance; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006720:Homozygote; D006801:Humans; D007006:Hypogonadism / Q000150:complications; D008297:Male; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D012737:Sex Factors; D017086:beta-Thalassemia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
chemical_list: D018167:Receptors, Calcitriol