目的分析中国新疆汉族人群白细胞分化抗原(HLA)-DRB1、DQB1基因频率及单倍型频率与肺结核的相关性,寻找与肺结核可能有关的HLA基因。方法选取新疆地区汉族人群肺结核患者92例与健康对照者96例,采用聚合酶链反应-直接碱基序列分析基因分型技术(PCR-SBT)对HLA-DRB1、DQB1进行基因分型。结果 92例新疆汉族结核患者中分别检出HLA-DRB1位点等位基因30个、HLA-DQB1位点等位基因16个;96例健康对照组分别检出HLA-DRB1位点等位基因29个、HLA-DQB1位点等位基因29个。与对照组相比,结核病例组中HLA-DRB1*0701、DQB1*0301基因频率明显增高,单倍型DRB1*07:01-DQB1*02:02、DRB1*09:01-DQB1*03:03频率明显增高。结论 HLA-DRB1*0701、DQB1*0301可能是中国新疆汉族人群肺结核的易感基因,DRB1*07:01-DQB1*02:02、DRB1*09:01-DQB1*03:03可能是中国新疆汉族人群肺结核的易感单倍型。
To explore the association between human leucocyte antigen(HLA)-DRB1,-DQB1 alleles and pulmonary tuberculosis in Chinese Han population of Xinjiang uygur autonomous region, we analyzed the allele frequency of HLA-DRB1,-DQB1 in 92 patients with pulmonary tuberculosis and 96 healthy controls by using the polymerase chain reaction sequence-based typing(PCR-SBT) technique. Data showed that there were 30 HLA-DRB1 and 16 HLA-DQB1 alleles in pulmonary tuberculosis patients, 29 HLA-DRB1 and 29 HLA-DQB1 alleles in healthy controls. The frequencies of HLA-DRB1*07:01(15.8% vs 8.3%, OR=2.058, P=0.027)and HLA-DQB1 * 03:01(28.3% vs 13.5%, OR=2.515, P=0.0004) were significantly higher in pulmonary tuberculosis patients than those in healthy controls; the frequencies of DRB1*07:01-DQB1*02:02(10.9% vs 4.7%, OR =2.480, P =0.025) and DRB1*09:01-DQB1*03:03 haplotypes were significantly higher in pulmonary tuberculosis patients than those in healthy controls. The results suggest that HLA-DRB1*0701 and DQB1*03:01 may be the susceptible factor to pulmonary tuberculosis, and DRB1*07:01-DQB1*02:02, DRB1*09:01-DQB1*03:03(10.9% vs 5.2%, OR=2.220, P=0.043) haplotypes may be susceptible to pulmonary tuberculosis in Han population from the Xinjiang uygur autonomous region of china.