中国海南黎族人群LMP2/LMP7基因多态性与肺结核病的关联性

Association of LMP2/LMP7 gene polymorphism with pulmonary tuberculosis in Li population in Hainan of China

目的:探讨低相对分子质量蛋白酶体(LMP)基因单核苷酸多态性(SNP)与肺结核病(PTB)易感性的关系,了解海南省黎族人群中LMP基因多态性的情况,为我国人类基因组多样性的研究提供理论依据。方法:应用PCR-RFLP技术对205例海南黎族PTB患者(病例组)和217例海南黎族健康人群(对照组)LMP2/LMP7 2个多态性位点(Codon60/Codon145)进行检测,并对其易感性进行分析。结果:LMP基因多态性位点在2组人群中具有多态性,LMP7均为C→A,LMP2均为C→T;病例组LMP7Codon145多态性位点纯合型Lys/Lys和杂合型Gln/Lys的基因型频数明显高于对照组。野生纯合型Gln/Gln的基因型频数与纯合型Lys/Lys比较,OR=3.77,95%CI[1.60,8.89](P<0.05);与杂合型Gln/Lys比较,OR=2.97,95%CI[1.80,4.90](P<0.01)。病例组LMP2基因多态性位点的基因频数与对照组比较,差异无统计学意义(P>0.05);LMP7基因的多态性对于PTB感染的发生有着显著的易感关联,在海南黎族人群中,其纯合、杂合形式分别增加结核患病风险为3.77和2.97倍。结论:对于结核杆菌感染的发生,LMP7基因的多态性是一个重要的易感危险因素。

Objective To explore the association of low molecular weight protease（LMP）gene single nucleotide polymorphisms（SNP）with the susceptibility of pulmonary tuberculosis（PTB）of Li population in Hainan Province,and to clarify the LMP gene polymorphism in Li population,and to provide theoretical basis for research on genomics.Methods Two polymorphicloci of LMP2/LMP7（Codon60/Codon145/）in 205cases of Li population in Hainan with PTB（case group）and 217healthy Li population in Hainan（control group）were detected with PCRRFLP,and the susceptibilities were analyzed.Results The polymorphic loci of the LMP gene had polymorphisms in two groups,and LMP7were C→A,LMP2were C→T.The genotypic frequencies of homozygous Lys/Lys and heterozygous Gln/Lys of LMP7Codon145polymorphic loci in case group were significantly higher than those in control group.The genotypic frequencies of Gln/Gln and homozygous Lys/Lys were compared,OR=3.77（95% CI：1.60-8.89,P0.05）;compared with Gln/Lys,OR=2.97（95%CI：1.80-4.90,P0.01）.The genotypic frequency of LMP2gene polymorphic loci had no significant difference between two groups（P0.05）.The polymorphism of LMP7gene was a predisposing factor for pulmonary tuberculosis infection of Li population in Hainan,and the homozygous and heterozygous forms increased the tuberculosis risk for 3.77and 2.97times.Conclusion For the infection of Mycobacterium tuberculosis,LMP7gene polymorphism is still an important predisposing risk factors.