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目的探讨中国汉族儿童P2X7基因多态性与结核病易感性相关关系,以探讨P2X7基因在儿童结核病发病中的作用。方法病例组为2005年1月至2008年9月首都医科大学附属北京儿童医院收治的汉族结核病患儿;对照组为同期在儿外科行手术前体检的患儿。按照年龄等与病例组3:1进行匹配。扩增基因组DNAP2X7基因,应用限制性酶切片段长度多态性(PCR-RFLP)分析方法和碱基特异性PCR方法,分别对P2X7基因1513和-762位点多态性与儿童结核病易感性进行相关分析。结果病例组纳入96例,平均年龄(5.5±4.5)岁;对照组纳入384例,平均年龄(5.9±4.0)岁。P2X7基因1513位点A/C和C/C基因型分布,病例组(38.5%和8.3%)较对照组(31.0%和11.5%)比率增高,但差异无统计学意义(χ2=2.306,P=0.316);1513C在病例组和对照组分布频率分别为27.6%和27.0%,差异无统计学意义(χ2=0.033,P=0.856)。-762位点C/C基因型在整体人群中的分布频率为56.5%,-762C在病例组和对照组中的分布频率分别为77.4%和71.7%,对照组和病例组各基因频率或基因型频率差异无统计学意义(χ2=4.742,P=0.093)。上述基因型和等位基因频率在肺结核亚组和肺外结核病亚组差异均无统计学意义。结论宿主P2X7基因1513位点A/C和-762位点T/C的转换可能与中国汉族儿童结核病易感性无相关性。因此,P2X7基因多态性与结核病发病以及是否为结核病易感性的影响因素有待进一步验证。
Objective To explore the relationship between P2X7 gene polymorphism and susceptibility to tuberculosis in Chinese Han children and to explore the role of P2X7 in the pathogenesis of childhood tuberculosis. Methods The case group was Han-TB children admitted to Beijing Children’s Hospital Affiliated to Capital Medical University from January 2005 to September 2008. The control group was children undergoing preoperative physical examination in pediatric surgery department. Match with case group 3: 1 according to age. Genomic DNAP2X7 was amplified by PCR-RFLP and base-specific PCR. The susceptibility to childhood TB at 1513 and -762 sites of P2X7 gene was analyzed by PCR-RFLP and PCR-RFLP. related analysis. Results A total of 96 patients (mean age 5.5 ± 4.5) were included in the case group and 384 in the control group (mean age 5.9 ± 4.0). The distribution of A / C and C / C genotypes in P2X7 gene at 1513 sites was higher in case group (38.5% vs 8.3%) than in control group (31.0% vs 11.5%), but the difference was not statistically significant (χ2 = 2.306, P = 0.316). The distribution frequency of 1513C in cases and controls was 27.6% and 27.0% respectively, with no significant difference (χ2 = 0.033, P = 0.856). The distribution frequency of -762 C / C genotype in the whole population was 56.5%. The distribution frequency of-762C in case group and control group was 77.4% and 71.7% respectively. The frequency and gene of each gene in control group and case group There was no significant difference in type frequency (χ2 = 4.742, P = 0.093). The above genotype and allele frequency in tuberculosis subgroup and extrapulmonary tuberculosis subgroup differences were not statistically significant. Conclusions The T / C transition at the A / C and -762 loci of the P2X7 gene at site 1513 may not be correlated with the susceptibility to tuberculosis in Chinese Han children. Therefore, P2X7 gene polymorphism and the incidence of tuberculosis and tuberculosis susceptibility factors to be further verified.