亚洲人群维生素D受体基因多态性和骨质疏松症相关性研究进展

Research progress in the correlation between vitamin D receptor gene polymorphism and osteoporosis in Asian population

骨质疏松症(osteoporosis, OP)是一种随年龄增加患病率不断提高的全球性骨骼疾病,主要受遗传因素与环境因素双重作用的控制,它所引起的最恶性的结果是出现骨质疏松性骨折,危害老年群体的身心健康,增加此人群的死亡风险。维生素D受体(Vitamin D receptor, VDR)基因在调节骨代谢和调控钙稳态方面发挥至关重要的作用。迄今为止,有许多研究对VDR基因多态性和OP之间的联系进行了探究,但研究结果往往具有较大争议。因此,该文以探究亚洲人群VDR基因多态性与发生OP的联系为目的,从ApaⅠ位点多态性、BsmⅠ位点多态性、TaqⅠ位点多态性以及FokⅠ位点多态性与OP相关性4个方面作综述,并根据国内外各研究结果以及相关位点的位置特征进行总结,对进一步研究进行展望,以期为如何筛查亚洲OP易感人群及制定相关预防、治疗OP的策略提供思路。

Osteoporosis(OP)is a global bone disease with an increasing prevalence with age.It is mainly affected by genetic factors and environmental factors.The most serious outcome of OP is osteoporotic fractures,which both affect mental and physical health of the elderly and increase the risk of death for this population.Vitamin D receptor(VDR)gene plays an important role in regulating bone metabolism and calcium homeostasis.To date,there have been many studies investigating the link between VDR gene polymorphism and OP.However,the result are often controversial.Therefore,the purpose of this paper is to explore the association between VDR gene polymorphism and the occurrence of OP in Asian populations.The four aspects of the association between VDR gene ApaI polymorphism,BsmI polymorphism,TaqI polymorphism,and FokI polymorphism with OP are reviewed.Moreover,we summarize the paper according to the national and international research result and the location characteristics of related sites.We look forward to further research,in order to provide ideas for how to screen Asian OP-susceptible people and formulate related strategies for the prevention and treatment of OP.