LMP2/LMP7基因单倍型与肠道结核感染易感的相关性研究

Susceptibility research of the haplotype from LMP2/LMP7 gene and intestinal mycobacterium tuberculosis infection

目的探讨中国汉族人群中抗原递呈基因LMP2/LMP7单倍体型与肠道结核感染的遗传易感性关联。方法提取189例肠道结核感染患者及221例健康志愿者外周全血基因组DNA,采用PCR-RFLP的方法检测两组人群中LMP2-60/LMP7-145位于基因编码区的两个多态性位点基因型;利用PHASE1.0软件构建两个多态性位点的个体单倍体型,以非条件Logistic回归校正混杂因素,并进行单倍体型与肠道结核感染易感风险关联的统计学分析。结果 LMP2-60/LMP7-145多态性在中国人群中均存在,LMP2/LMP7多态性位点各自的等位基因频率分布符合Hardy-Weinberg平衡定律;肠道结核感染患者与健康对照人群中LMP2/LMP7两个多态性位点的基因型频率没有统计学差异(P>0.05);经校正混杂因素后,Logistic回归分析结果显示两个位点所构建的单倍体型LMP2(Cys)-LMP7(Lys)在两组间具有统计学差异(P=0.001、OR=4.02、95%CI 2.48～9.62)。结论在中国汉族人群中,LMP2/LMP7基因编码区两个多态位点的单倍体型与肠道结核的感染有着较强的遗传易感关联。

Objective To elucidate whether the antigen-processing gene（LMP2/LMP7） haplotypes were associated with the intestinal Mycobacterium tuberculosis（M.tuberculosis） infection in the Han nationality of China.Methods The association was analyzed in a hospital-based case control study of 189 intestinal M.tuberculosis cases and 221 cancer-free controls.DNA was obtained from blood samples and the LMP2-60/LMP7-145 was genotyped by the method of PCR-RFLP.The software PHASE1.0 was performed to construct the haplotype of every individual.The correlation was exhibited by the OR values（odds ratio） and their 95%CI（confidence intervals）.After adjusting the confounding factors,unconditional logistic regression was used to analyze the statistical association of the two groups by using the SPSS11.5 software.Results The two polymorphisms in LMP2/LMP7 gene codon region were existence in our study population.In the two groups,both of the two loci genotype distributions were in Hardy-Weinberg equilibrium.Statistical analysis revealed that the allele frequency of the two polymorphisms did not display significant difference between the two groups（P〈0.05）.Logistic regression analysis adjusted by confounding factors exhibited that the LMP2（Cys）-LMP7（Lys） haplotype possessed statistically difference（P=0.001,OR=4.02,95%CI： 2.48-9.62）.Conclusion The haplotype constructed by the two polymorphisms of LMP2-60/LMP7-145 would increase the risk of intestinal M.tuberculosis infection in the Han nationality of China.