Polymorphism of vitamin D3 receptor and its relation to mineral bone density in perimenopausal women

• Published in: Osteoporosis international 2015-03, Vol.26 (3), p.1045-1052
• Main Authors: Boroń, D., Kamiński, A., Kotrych, D., Bogacz, A., Uzar, I., Mrozikiewicz, P. M., Czerny, B.
• Format: Article
• Language: English
• Subjects: Adult; Bone Density - genetics; Bone Diseases, Metabolic - genetics; Bone Diseases, Metabolic - physiopathology; Endocrinology; Female; Genetic Predisposition to Disease; Genotype; Humans; Lumbar Vertebrae - physiopathology; Medicine; Medicine & Public Health; Middle Aged; Original; Original Article; Orthopedics; Osteoporosis, Postmenopausal - genetics; Osteoporosis, Postmenopausal - physiopathology; Perimenopause - genetics; Perimenopause - physiology; Polymorphism, Genetic; Receptors, Calcitriol - genetics; Rheumatology; Young Adult
• ISSN: 0937-941X; 1433-2965
• DOI: 10.1007/s00198-014-2947-3

Summary Postmenopausal osteoporosis is the most common metabolic bone disease with important genetic factors. We evaluated the frequency of polymorphism 283G/A of the vitamin D 3 VDR gene receptor. The study included 800 women at the postmenopausal (505) and reproductive (295) age. Statistically significant changes, depending on the genotype, were shown. Introduction Postmenopausal osteoporosis is the most common metabolic bone disease of strong genetic origin with population variability determined by the interaction of genetic and environmental factors. Recognition of different genetic variants underlying development of osteoporosis would make it possible to administer individual symptomatic treatment as well as early prophylactics of osteoporosis. Methods The aim of the study was to evaluate the frequency of polymorphism 283G/A of the vitamin D 3 VDR gene receptor and assessment of its relations with the clinical parameters of osseous turnover and degree of postmenopausal osteoporosis. The study included 800 women at the postmenopausal (505) and reproductive (295) age throughout the Wielkopolska region in Poland. The postmenopausal group included women with osteoporosis and osteopenia and the healthy ones. Women at the reproductive age were healthy. Frequency of the tested gene polymorphism was evaluated in the group where bone mineral density (BMD) was marked and in the control group. Results The obtained test results pointed to correlation of polymorphism VDR 283G/A with the BMD scores for the lumbar vertebrae in women with osteopenia and osteoporosis, therefore the ones at risk of fractures. Vitamin D receptor (VDR) polymorphism correlated with reduced BMD values. Conclusions Polymorphism 283G/A of the vitamin D 3 receptor gene has been proved to be the genetic factor of postmenopausal osteoporosis. The polymorphism mentioned above has been proved to be a factor of mineral bone density changes of women.