NRAMP1基因DNA多态性与海南黎族人结核病易感性的研究

Study on relationship between DNA polymorphisms of natural resistance associated macrophage protein1 gene and susceptibility to tuberculosis in Hainan Li ethnic group

目的探讨自然抵抗相关巨噬细胞蛋白1(NRAMP1)基因D543N和3′UTR位点多态性与海南黎族人结核病易感性的关系。方法采用病例对照研究设计,共有130例肺结核病例和233例对照纳入本研究,用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析的方法检测入选人群NRAMP1基因中D543N和3′UTR位点的多态性,并对结核病相关危险因素进行问卷调查,进行单因素和基因频率的分析。结果对所有研究对象进行D543N和3′UTR两个多态性位点的基因分型,3′UTR-TGTG+/TGTG-和3′UTR-TGTG-/TGTG-基因型病例组频率显著高于对照组,OR值分别为5.531(2.649-11.549)和0.181(0.087-0.378);D543N位点各基因型频率在病例和对照组中的频率无显著性差异;同时对4个相关危险因素进行了单因素分析,结果性别、酗酒两个因素在病例组和对照组中有显著性差异,OR值(95%CI)分别为3.937(2.459-6.304)和2.435(1.507-3.937),在多因素分析中,调整了性别、吸烟、酗酒3个因素后,3′UTR-TGTG+/TGTG-和3′UTR-TGTG-/TGTG-基因型仍与肺结核显著相关,OR值(95%CI)分别为5.140(2.394-11.034)和4.929(2.769-8.775)。结论NRAMP1基因3′UTR位点多态性可能是海南黎族人结核病的易感因素,D543N位点多态性与海南黎族人结核病的发生无关。

Obiective To investigate the relationship between natural resistance associated macrophage protein（NRAMP1） gene polymorphisms （D543N 和 3, UTR） and susceptibility to pulmonary in Hainan Li ethnic population. Methods Case control study design was adopted. A total of 130 well defined pulmonary tuberculosis patients 233 unrelated normal controls were recruited for the study. Polymerase chain reaction（PCR） and restriction fragment length polymorphism（RFLP） techniques were used to detect type NRAMP1 gene polymorphisms（D543N 和 3＇UTR）. Information on related risk factors of pulmonary tuberculosis was collected using a standard questionnaire. Univariate and multivariate unconditional logistic analyses were conducted using SPSS for window software. Results Univariate analysis demonstrated that the 3＇ UTR-TGTG^＋/TGTG- 3＇ and UTR - TGTG / TGTG^- gene type occurred more frequently in the cases than in the controls , with crude OR（95CI） being5.531（2. 649-11. 549） and0.181 （0. 087-0. 378 ）. Nosignificantdifference was observed between TB and D543N polymorphism. In multivariate analysis, associations of TB and 3＇ UTR-TGTG^＋/TGTG^- 3＇ and UTR-TGTG-/TGTG-genotype remained, after adjusting for scar of sex, cigarette, drink. Adjusted OR（95% CI） was 5. 140（2. 394-11. 034） and 4. 929 （2. 769-8. 775）. Conehtsion Polymorphism of 3＇UTR locus in NRAMP1 gene might affect their susceptibility to TB in Hainan Li ethnic population. And polymorphism of D543N locus in NRAMP1 gene is no significant association with TB in Hainan Li ethnic group.