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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SNa Pshot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(χ~2=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。
Objective To investigate the relationship between vitamin D receptor gene polymorphism and susceptibility to bone and joint tuberculosis in Han population in Guangdong province of China by detecting the polymorphism of vitamin A receptor gene (ApaⅠ) in patients with tuberculosis and non-tuberculosis. Methods 100 cases (case group) of tuberculosis and joint tuberculosis in Han nationality in Guangdong province of China from May 2015 to June 2016 were collected, and 100 volunteers (control group) from Heyuan City Hospital of Traditional Chinese Medicine were collected. SNa Pshot technique was used to detect vitamins D receptor gene Apa Ⅰ restriction site polymorphism, and vitamin D genotyping. Results The frequencies of AA, AA and AA in the three genotypes of vitamin D receptor were 51%, 41%, 8% and 33%, 55% and 12% respectively in the case group and the control group. (P <0.05). The distribution frequency of ApaⅠ-AA genotype in case group was significantly higher than that in control group (odds ratio 2.073 (χ ~ 2 = 6.742, P <0.05). The 95% confidence interval Is 1.142 ~ 3.763. Conclusions ApaⅠ-AA polymorphism of VDR gene is associated with the susceptibility to bone and joint tuberculosis in Han population of Guangdong province of China. The ApaⅠ-AA genotype may be the susceptible genotype.