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

Autor:	Mara, Ferrara, Sofia M R, Matarese, Matteo, Francese, Barbara, Borrelli, Antonietta, Coppola, Lina, Coppola, Luigi, Esposito
Rok vydání:	2002
Předmět:	Adult Male Analysis of Variance Polymorphism Genetic Adolescent Hypogonadism Homozygote beta-Thalassemia Sex Factors Bone Density Child Preschool Humans Receptors Calcitriol Female Child Growth Disorders
Zdroj:	British journal of haematology. 117(2)
ISSN:	0007-1048
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::897b407bf25110aa1958871ee82a7dac https://pubmed.ncbi.nlm.nih.gov/11972530 Zobrazit plný text záznamu Plný text