Premium
Effect of VDR polymorphisms on growth and bone mineral density in homozygous beta thalassaemia
Author(s) -
Ferrara Mara,
Matarese Sofia M. R.,
Francese Matteo,
Borrelli Barbara,
Coppola Antonietta,
Coppola Lina,
Esposito Luigi
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03426.x
Subject(s) - calcitriol receptor , foki , medicine , endocrinology , bone mineral , femoral neck , osteoporosis , vitamin d and neurology , short stature , genotype , polymorphism (computer science) , biology , genetics , gene
Summary. 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 β 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 β thalassaemia.