海南黎族人群LMP/TAP基因单倍体型与结核病的相关性

目的探讨中国海南黎族人群低分子量蛋白酶体、抗原处理相关转运体基因单倍体型与肺结核病（TB）感染的易感性关联。方法应用PCR-RFLP技术对205例海南黎族肺结核患者及217例海南黎族健康人群LMP基因（即LMP2 Codon60/LMP7 Codon145这两个多态位点）和TAP基因（/即TAP1-1 Codon333/TAP1-2 Codon 637这两个多态位点）共四个多态性位点进行检测,采用PHASE1.0软件构建这四个多态性位点的个体单倍体型,并对其易感性进行分析。结果对所有的研究对象进行PCR-RFLP检测结果显示：LMP基因和TAP基因在两组人群中具有多态性;在这四个位点所构建的单倍体型中,我们的研究发现含有--B/＋B/B、--/H＋H/H单倍体型的个体在两组人群中差异有显著性,分别为OR=3.674,P〈0.0001,95%CI[2.254-5.9888]和OR=3.573,P=0.009,95%CI[1.379-9.263];--/G＋G/G、--/I＋I/I单倍体型高于对照组,有统计学意义（P〈0.05）,分别为OR=0.33,P=0.043,95%CI[0.115-0.968]和P=0.034,OR=2.91,95%CI[1.084-7.807]。结论在这两个基因四个位点所构建的单倍体型中具有--B/＋B/B、--/H＋H/H单倍体的个体对于海南黎族结核的发生具有更强的易感关联,其增加结核患病风险约为3.674倍和3.573倍;而--G/＋G/G、单倍体型和--/I＋I/I单倍体型在病例组和结核组比较,均有统计学意义,（P〈0.05）,显示弱相关性;对于结核的发生也有着弱的易患关联,其增加结核患病风险约为0.33倍和2.91倍。

Association of LMP/TAP gene haplotype with tuberculosis in Hainan Li nationality population

Objective To study the linkage of susceptibility of low molecular weight proteasome,and transporter related with antigen processing genes haplotypes in Hainan Li nationality to pulmonary tuberculosis（TB）infection.Methods The two LMP polymorphic gene loci（i.e.LMP2 Codon60/L MP7 Codon145）and two TAP polymorphic gene loc（i i.e.TAP1-1 Codon333/ TAP1-2 Codon 637）in 205 Hainan Li pulmonary tuberculosis patients and 217 healthy persons were determined by using PCR-RFLP technique.The individual haplotype of four polymorphic loci were analyzed using PHASE1.0 software and the susceptibility of the genes to tuberculosis was also investigated.Results LMP／/TAP gene polymorphism loci showed polymorphism in two groups.In the haplotype constructed with the four loci,haploid individual differences were noticed in the individual haplotype containing--B/＋B/B and--/H＋H/H haploid,showing significant difference between the two groups[OR=3.674,P0.0001,95%C（I 2.254-5.9888）and OR=3.573,P=0.009,95%C（I 1.379-9.263）];--/G＋G/G and-/I＋I/I haplotype was higher than the control group（P0.05）also showing significant difference [OR=0.33,P=0.043 95%CI（0.115-0.968）and P=0.034,OR=2.91 95%CI（1.084-7.807）].Conclusions The individual haploid types constructed with the four loci containing--B/＋B/B and--/H ＋H/H haploid were strongly susceptible to tuberculosis to increase 3 674 and 3 573 times of the risk of acquiring tuberculosis.While the susceptibility of individual with--G/＋G/G and /I ＋I/I haploid types to tuberculosis was weakly than the control group and the risk of acquiring tuberculosi was 0.33 times and 2.91 times.