Author/Editor		Marc, Janja
Title		Pomen polimorfizma gena za receptor vitamina D pri nastanku in zdravljenju osteoporoze
Translated title		The role of VDR gene polymorphism in the development and therapy of osteoporosis
Type		monografija
Place		Ljubljana
Publisher		Medicinska fakulteta
Publication year		1999
Volume		str. 106
Language		slo
Abstract		As defined by WHO. osteoporosis is a skeletal disease in which the bone mass has been reduced by more than 2.5 of standard deviation from the maximum bone mineral density (BMD) achieved in adult life. It is also characterized by changes in the microstructure of the bone, which results in an increased risk of bone fractures even on minor injuries. The course of this disease is influenced by numerous risk factors which also include genetic factors. The question which gene(s) are responsible for this remains to be answered. Because of vitamin D role in bone metabolism and because of contradicted literatures data, our work was focused on the role of the changes of vitamin D receptor gene in the development of osteoporosis. The polymerase chain reaction and analysis of restriction fragment lenght polymorphism was optimised and protokol of VDR genotypisation using Bsm I restriction endonuclease was prepared. 57 late postmenopausal women was evaluated. The great homogeneity of our study group in regard to dietary habits and life style reduced the numerous enviromental influences on BMD, thus attributing greater importance to the genetic influence. The results show a differernt BMD values in women with different VDR genotype. The BB genotype was associated with low BMD. The relative distribution of individual genotypes in the investigated group was 17.5 vs. 58.0 vs. 24.5 for BB vs. Bb vs. bb, which is typical of Caucasians. After the correlation between VDR gene changes with a lower BMD and the occurrence of osteoporosis had been confirmed, we were interested to find out whether these changes could have any prognostic value for the success of bisphosphonate treatment in osteoporosis. 24 patients treated for osteoporosis with 1-hydroxy-ethilidene-bis-phosphonate (ethidronate) was carried out, and their BMD and biochemical markers of bone metabolism were followed. (Abstract truncated at 2000 characters)
Descriptors		OSTEOPOROSIS, POSTMENOPAUSAL RECEPTORS, CALCITONIN POSTMENOPAUSE POLYMORPHISM (GENETICS) POLYMERASE CHAIN REACTION GENOTYPE ETIDRONATE DISODIUM CALCIUM PHOSPHATES HYDROXYPROLINE CREATININE PARATHYROID HORMONES OSTEOCALCIN