中文摘要：

目的探讨人类白细胞抗原（HLA）-DRB1、DQB1基因多态性与新疆维吾尔族人群结核病易感性的关联。方法采用病例-对照的研究方法,应用聚合酶链反应-序列特异性引物（PCR-SSP）技术对226例新疆维吾尔族肺结核病患者（肺结核病例组）和231例新疆维吾尔族健康对照者（健康对照组）进行HLA-DRB1、DQB1基因分型,比较其等位基因频率（GF）,并计算其比值比（OR）。结果 1.肺结核病例组中HLA-DRB1＊11基因频率显著高于健康对照组,2组的GF分别为4.5%、1.1%,差异有统计学意义（OR=4.388、95%CI=1.618~11.905、Pc〈0.05）;肺结核病例组中HLA-DRB1＊04基因频率显著高于健康对照组,2组的GF分别为12.8%、8.4%,但P值经过校正后差异无统计学意义（OR=1.686、95%CI=1.060~2.684、Pc〉0.05）。2.肺结核病例组中HLA-DQB1＊0201基因频率显著高于健康对照组,2组的GF分别为40.1%、19.2%,差异有统计学意义（OR=3.379、95%CI=2.302~4.960、Pc〈0.05）;肺结核病例组中HLA-DQB1＊0301/4基因频率显著低于健康对照组,2组的GF分别为6.2%、10.3%,但P值经过校正后差异无统计学意义（OR=0.561、95%CI=0.334~0.941、Pc〉0.05）。结论 HLA-DRB1＊11、DQB1＊0201等位基因与新疆维吾尔族人群结核病强相关,DRB1＊11、DQB1＊0201可能是其易感基因。

英文摘要：

Objective To explore the correlation between the polymorphism of HLA-DRB1、DQB1 genes and the susceptibility to pulmonary tuberculosis（PTB） in a Uyghur population from Xinjiang. Methods Using case-control study,HLA-DRB1、DQB1 genotypes in 226 PTB cases and 231 healthy controls from Uyghur population in Xinjiang were analyzed with polymerase chain reaction-sequence specific primers（PCR-SSP）,in which gene frequency（GF） and odds ratio（OR） were calculated and compared. Results 1.The frequency of HLA-DRB1＊11 gene in PTB cases was significantly higher than that in the healthy controls（OR=4.388,95%CI=1.618～11.905,Pc0.05）,their GFs were 4.5% and 1.1% respectively.The frequency of HLA-DRB1＊04 gene in PTB cases was higher than that in the healthy controls,but there was the statistical difference（OR=1.686,95%CI=1.060～2.684,Pc0.05）,their GFs were 12.8% and 8.4% respectively.2.The frequency of HLA-DQB1＊0201 gene in PTB cases was significantly higher than that in the healthy controls（OR=3.379,95%CI=2.302～4.960,Pc0.05）,their GFs were 40.1% and 19.2% respectively.The HLA-DQB1＊0301/4 gene occurred less frequently in TB patients than in controls,but there was the statistical difference（OR=0.561,95%CI=0.334～0.941,Pc0.05）,their GFs were 6.2% and 10.3% respectively. Conclusion HLA-DRB1＊11 and DQB1＊0201 alleles were evidently correlated to the incidence of tuberculosis,maybe susceptible genes of tuberculosis in Xinjiang Uyghur population.