围绝经期女性维生素D3受体多态性及其与骨密度的关系。
Polymorphism of vitamin D3 receptor and its relation to mineral bone density in perimenopausal women.
作者信息
Boroń D, Kamiński A, Kotrych D, Bogacz A, Uzar I, Mrozikiewicz P M, Czerny B
机构信息
Department of Histology and Embryology, Medical University of Silesia, Jordana 19 Street, 41-808, Zabrze, Poland,
出版信息
Osteoporos Int. 2015 Mar;26(3):1045-52. doi: 10.1007/s00198-014-2947-3. Epub 2014 Nov 19.
UNLABELLED
Postmenopausal osteoporosis is the most common metabolic bone disease with important genetic factors. We evaluated the frequency of polymorphism 283G/A of the vitamin D3 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 D3 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 D3 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.
未标注
绝经后骨质疏松症是最常见的代谢性骨病，具有重要的遗传因素。我们评估了维生素D3 VDR基因受体283G/A多态性的频率。该研究纳入了800名处于绝经后（505名）和生育期（295名）的女性。结果显示，根据基因型存在统计学上的显著变化。
引言
绝经后骨质疏松症是一种具有强烈遗传起源的最常见代谢性骨病，其人群变异性由遗传和环境因素的相互作用决定。识别骨质疏松症发生发展的不同基因变异将有助于进行个体对症治疗以及早期预防骨质疏松症。
方法
本研究的目的是评估维生素D3 VDR基因受体283G/A多态性的频率，并评估其与骨转换临床参数及绝经后骨质疏松症程度的关系。该研究纳入了波兰大波兰地区的800名处于绝经后（505名）和生育期（295名）的女性。绝经后组包括患有骨质疏松症和骨质减少症的女性以及健康女性。生育期女性均健康。在测量了骨密度（BMD）的组和对照组中评估了所检测基因多态性的频率。
结果
所获得的检测结果表明，VDR 283G/A多态性与骨质减少症和骨质疏松症女性的腰椎BMD评分相关，因此这些女性有骨折风险。维生素D受体（VDR）多态性与BMD值降低相关。
结论
维生素D3受体基因的283G/A多态性已被证明是绝经后骨质疏松症的遗传因素。上述多态性已被证明是女性骨矿物质密度变化的一个因素。
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