南方医科大学学报

南方医科大学学报 ›› 2017, Vol. 37 ›› Issue (05): 704-.

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维生素D受体基因多态性对骨关节结核易感性的影响

张嘉伟，张强，瞿东滨，林振，马学铭，钟鑫，桑朝辉，陈旭狮，宋祖坤，黄飘，江建明   

  • 出版日期:2017-05-20 发布日期:2017-05-20

Association of vitamin D receptor gene polymorphisms with susceptibility to bone and joint tuberculosis in Chinese Han population

  • Online:2017-05-20 Published:2017-05-20

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摘要： 目的通过检测骨关节结核病人与非骨关节结核者的维生素D受体基因（ApaⅠ）多态性，探讨维生素D受体基因多态性与 中国广东地区汉族人群骨关节结核易感性的关系。方法收集2015年5月~2016年6月中国广东地区汉族罹患骨关节结核患者 100例（病例组）以及来自河源市中医院志愿者100例（对照组），应用SNaPshot技术检测两组对象维生素D受体基因ApaⅠ酶切 位点多态性，并进行维生素D基因分型。结果维生素D 受体三种基因型AA、Aa与aa在病例组和对照组中的分布频率分别为 51%、41%、8%和33%、55%、12%；两组组间比较有显著性差异（P<0.05），其中ApaⅠ-AA基因型在病例组中的分布频率明显高 于对照组，比值比为2.073（χ2=6.742，P<0.05），其95%可信区间为1.142~3.763。结论VDR基因ApaⅠ酶切位点多态性与中国广 东地区汉族人群骨关节结核易感性相关，ApaⅠ-AA基因型可能是其易感基因型。

Abstract: Objective To investigate the association between vitamin D receptor (VDR) gene Apa I polymorphism and the susceptibility to bone and joint tuberculosis in Chinese Han population. Methods Between May, 2015 and June, 2016, 100 patients with bone and joint tuberculosis and 100 healthy volunteers were recruited concomitantly in Heyuan Hospital of Traditional Chinese Medicine. Vitamin D receptor gene Apa I polymorphisms in these subjects were analyzed using SNaPshot. Result The genotype frequencies of Apa I-AA, Apa I-Aa and Apa I-aa were 51%, 41%, and 8% in the case group and 33%, 55% , and 12% in the control group, respectively, showing significant differences between the two groups (P˂0.05). The genotype of Apa I-AA was significantly higher in the case group with an odds ratio (OR) of 2.073 (95% CI: 1.142-3.763). Conclusion The Apa I polymorphisms of the VDR gene are associated with the susceptibility to bone and joint tuberculosis in Chinese Han population, and individuals with a Apa I-AA genotype are at greater risks to develop bone and joint tuberculosis.