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Comparative Study
. 2002 May;117(2):436-40.
doi: 10.1046/j.1365-2141.2002.03426.x.

Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia

Mara Ferrara  1 , Sofia M R Matarese, Matteo Francese, Barbara Borrelli, Antonietta Coppola, Lina Coppola, Luigi Esposito
Affiliations
Comparative Study

Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia

Mara Ferrara et al. Br J Haematol. 2002 May.

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.

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