NRAMP1基因多态性与重庆市汉族人群肺结核易感相关性研究

Study of the association between NRAMP1 polymorphisms and susceptibility to tuberculosis in Han nationality of Chongqing

目的:研究(Natural-resistance-associated macrophage protein1,NRAMP1)NRAMP1基因rs17235409A/Gr、s17235416TGTG/(-)位点多态性与重庆地区汉族人群肺结核易患性的关系。方法:采用病例对照研究。按肺结核诊断标准(GB15987-1995),在重庆市、重庆市沙坪坝区结核病防治所选取初治、肺结核痰涂片阳性的汉族肺结核确诊病例100例;对照为同样诊断标准排除肺结核等疾病的汉族正常人,共106例。用聚合酶链反应-限制性片段长度多态性的方法对NRAMP1基因rs17235409A/G、rs17235416TGTG/(-)进行基因分型,用检验分析这2个位点多态性与结核病易患性的关系,数据分析利用SAS8.2软件进行。结果:病例组中NRAMP1基因rs17235409 GG、GA+AA基因型频率分别为67.00%、33.00%;对照组中分别为87.34%、12.26%,组间分布差异有统计学意义χ,2=12.694 8,P<0.05。具有GA或(和)AA基因型的个体患肺结核的OR为3.523 5,OR95%CI为1.762 3～7.044 9。rs17235416 TGTG/(-)多态性基因频率在病例和对照组间有显著性差异(χ2=7.377 3,P<0.05)。拥有TGTG/(-)+TGTG(-)/(-)基因型的个体的OR值为2.340 2,OR95%CI为1.267 0～4.322 2。结论:NRAMP1 rs17235409A/G、NRAMP1rs17235416TGTG/(-)2个位点多态性均与重庆市汉族人群肺结核易患性相关,可能是重庆地区汉族人群肺结核易患性的影响因素。NRAMP1rs17235409A等位基因r、s17235416 TGTG(-)等位基因可能是重庆市汉族人群肺结核发生的危险因素。

Objective：To study the association between polymorphisms of rs17235409A/G、rs17235416TGTG/（-） in NRAMP1 gene and susceptibility to tuberculosis in Han nationality of Chongqing.Methods：The case-control study was adopted.According to the TB diagnosis standard（GB 15987-1995）,100 TB patients with positive result on sputum smear test were chosen from the tuberculosis hospital in Chongqing.106 healthy individuals without history of tuberculosis and other diseases were selected as controls.Genotyping of NRAMP1 rs17235409A/G and rs17235416TGTG/（-） was done by PCR-RFLP.The calculation and analysis of the association between polymorphisms of the two sites and susceptibility to tuberculosis were performed by SAS 8.2.Results：The frequencies of NRAMP1 rs17235409 GG、GA＋AA genotypes in cases were 67.00%、33.00%,which were 87.34%、12.26% in controls,the difference between the case and control had statistically significance（χ2=12.694 8,P0.05）.NRAMP1rs17235409 GA＋AA genotypes had a significant increased risk of tuberculosis（OR=3.523 5,OR95%CI：1.762 3～7.044 9） compared to GG genotype.The frequencies of NRAMP1rs 17235416TGTG/（-） polymorphism had statistically significant difference between the case and control（χ2=7.377 3,P0.05）,rs17235409 TGTG/（-）＋TGTG（-）/（-） genotypes had a significant increased risk of tuberculosis（OR=2.340 2,OR95%CI：1.267 0～4.322 2） compared to TGTG/TGTG genotype.Conclusion：The NRAMP1 rs17235409A/G and rs17235416TGTG/（-） polymorphisms were possibly associated with susceptible to tuberculosis in Han nationality of Chongqing.NRAMP1 rs17235409A allele and rs17235416TGTG/（-） allele were possibly the risk factors of tuberculosis in Han nationality of Chongqing.