HLA-DQB1-HLA-DRB1单倍型与中国南方汉族肺结核的相关性分析

目的　探讨HLA DQB1 HLA DRB1单倍型在中国南方汉族肺结核发病机制中的可能作用。方法 采用病例 对照的研究方法 ,应用PCR SSP技术对110例中国南方汉族肺结核患者和 10 1例中国南方汉族健康对照者的 2 0个HLA DRB1和 8个HLA DQB1等位基因进行分型 ,比较两组间DQ2,3(8) DRB1、DQ3(7) DRB1、DQ3(8,9) DRB1、DQ2 ,3(7,9) DRB1、DQ2 DRB1、DQ4 DRB1、DQ5DRB1和DQ6 DRB1单倍型频率 (HF)并计算其相对危险性 (RR)。结果 DQ2 ,3(8) DR14 .1、DQ3(7)DR16单倍型的频率肺结核病例组显著高于对照组 (6 .10vs .0 .5 0、4 .18vs .0 .99) ,其RR分别为 13.4 0和 4 .41;DQ2 DR1、DQ2 DR12、DQ2 DR13.3、DQ3(7) DR1、DQ3(7) DR13.3、DQ3(8,9) DR13.3、DQ2,3(7,9) DR1、DQ2 ,3(7,9) DR13.3、DQ2 ,3(7,9) DR13.4、DQ4 DR4单倍型的频率肺结核病例组显著低于对照组(分别为 1.84vs .5 .6 0、1.37vs .5 .6 0、4 .18vs .11.0 0、2 .30vs .9.89、12 .6 2vs .2 2.2 8、5 .6 1vs .11.5 6、3.70vs .14 .4 0、16 .88vs .2 8.94、5 .13vs .12 .12、2 .30vs.6 .13) ,其RR分别为 0 .31、0 .2 3、0 .34、0 .2 1、0 .4 7、0 .4 4、0 .4 6、0 .38和 0.35。结论 DQ2 ,3(8) DR14 .1、DQ2 DR12、DQ2 ,3(7,9 )-DR13.4、DQ4-DR4单倍型的存在可能与中国南方汉族肺结核的发病有着关联，而其他单倍型差异的显著性则可能是因其组成基因的基因频率差异所致。

Analysis of relevance of pulmonary tuberculosis to HLA-DQB1-HLA-DRB1 gene haplotype among Han Nationality of Southern Chinese

Objective To probe possible role of HLA-DQB1-HLA-DRB1 haplotype in incidence of pulmonary tuberculosis among Han nationality of southern Chinese.Methods PCR-SSP was applied to detect 20 alleles of HLA-DRB1 and 8 alleles of HLA-DQB1 gene sites of 110 tuberculosis cases and 101 controls who came from Guangdong,Guangxi,Hunan,Hubei,Jiangxi and Fujian in a case control study.Then DQ2,3(8)-DRB1,DQ3(7)-DRB1,DQ3(8,9)-DRB1,DQ2,3(7,9)-DRB1,DQ2-DRB1,DQ4-DRB1,DQ5-DRB1 and DQ6-DRB1 haplotype frequencies (HF) as well as relative risks (RR) were calculated and compared.Results It was found that frequencies of DQ2,3(8)-DR12.1,DQ3(7)-DR16 haplotype in pulmonary tuberculosis cases were strikingly higher than that in healthy controls (6.10 vs.0.50、4.18 vs.0.99,their RRs were 13.40 and 4.41) and that frequencies of DQ2-DR1,DQ2-DR12,DQ2-DR13.3,DQ3(7)-DR1,DQ3(7)-DR13.3,DQ3(8,9)-DR13.3,DQ2,3(7,9)-DR1,DQ2,3(7,9)-DR13.3,DQ2,3(7,9)-DR13.4,DQ4-DR4 haplotype in pulmonary tuberculosis cases were remarkable lower than that in healthy controls (1.84 vs.5.60,1.37 vs.5.60,4.18 vs.11.00,2.30 vs.9.89,12,62 vs.22.28,5.61 vs.11.56,3.70 vs.14.40,16.88 vs.28.94,5.13 vs.12.12,2.30 vs.6.13),which their RRs were 0.31,0.23,0.34,0.21,0.47,0.44,0.46,0.38 and 0.35 respectively.Conclusion This study suggested that DQ2,3(8)-DR14.1,DQ2-DR12,DQ2,3(7,9)-DR13.4,DQ4-DR4 haplotype is potential relative to incidence of pulmonary tuberculosis of Han nationality of southern Chinese.However,differences of frequencies of DQ3(7)-DR16,DQ2-DR1,DQ2-DR13.3,DQ3(7)-DR1,DQ3(7)-DR13.3,DQ3(8,9)-DR13.3,DQ2,3(7,9)-DR1,DQ2,3(7,9)-DR13.3 haplotype between pulmonary tuberculosis cases and healthy controls may be caused by remarkable differences of gene frequency (GF) of constituted gene.