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目的探讨VDR基因Fok I、Taq I多态性与青藏高原藏族儿童结核病的相关性。方法对患有活动性肺结核的162例藏族儿童及同民族有分支杆菌接触史的健康儿童167例采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法检测VDR基因的Folk I、Taq I多态性,对两组样本中的多态性分布进行统计学处理及分析,以研究其与青藏高原藏族儿童结核病相关性。结果 Folk I的3种基因型FF、Ff及ff在结核组中的比例分别为55例(33.9%)、77例(47.5%)、30例(18.5%),而相应健康组中分别为70例(41.9%)、84例(50.3%)、13例(7.8%)。结核组中基因型ff频率显著高于健康组(P<0.05,OR 2.692 95%CI 1.349-5.373)。Taq I的2种基因型TT、Tt在结核组中的比例分别为138例(85.2%),24例(14.8%),而相应健康组中分别为146例(87.4%),21例(12.6%),统计学分析两组的基因型频率无显著差异(P>0.05)。结论 VDR基因的Folk I多态性与高原藏族儿童肺结核具有相关性,其ff基因型可能是患病风险因素,而Taq I多态性则与高原藏族儿童肺结核不具有相关性。
Objective To investigate the association between VDR gene Fok I and Taq I polymorphisms and Tibetan tuberculosis in Tibetan Plateau. Methods A total of 162 Tibetan children with active pulmonary tuberculosis and 167 healthy children with history of contact with Mycobacterium were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) I and Taq I polymorphisms. The distribution of polymorphisms in the two groups of samples was statistically analyzed and analyzed in order to study the correlation between polymorphisms and tuberculosis in Tibetan children in the Tibetan Plateau. Results The FF genotype FF, Ff and ff of Folk I in the tuberculosis group were 55 (33.9%), 77 (47.5%) and 30 (18.5%) respectively, while those in the corresponding healthy group were 70 Cases (41.9%), 84 cases (50.3%), 13 cases (7.8%). The frequency of genotype ff in tuberculosis group was significantly higher than that in healthy group (P <0.05, OR 2.692 95% CI 1.349-5.373). There were 138 cases (85.2%) and 24 cases (14.8%) of Taq I genotype TT and Tt in tuberculosis group, respectively, compared with 146 cases (87.4%) and 21 cases %). There was no significant difference in genotype frequencies between the two groups (P> 0.05). Conclusions The Folk I polymorphism of VDR gene is associated with tuberculosis in Tibetan plateau children. The ff genotype may be the risk factor for the disease, while the Taq I polymorphism is not related to tuberculosis in Tibetan plateau children.