364例蒙古族结核病患者易患基因多态性研究

Gene polymorphism related with tuberculosis susceptibility in 364 Mongolian population

目的探讨NRAMP1、Sp110基因多态性与蒙古族人群结核病易患性的关系。方法采用病例-对照研究,选取蒙古族结核病患者180例,正常体检者184例,应用聚合酶链式反应–限制性片段长度多态性(PCR-RFLP)方法检测NRAMP1、Sp110的基因型,计算各基因型在病例组和对照组的频率,采用χ^2检验、logistic回归分析基因多态性与结核病易患性的关系。结果单因素χ^2检验发现除体质指数(BMI)外其他因素在两组中分布均衡;NRAMP1rs17235409、NRAMP1rs17235416和Sp110rs3948464位点基因多态性均与结核易患性相关,3个位点突变基因型GA+AA、TGTG/(-)+(-)/(-)、CC结核病易患的危险度分别是未突变基因型GG、TGTG/TGTG、TT的1.784、4.745和3.061倍;BMI<18.5是结核病易患的危险因素,其结核病易患的危险度是BMI≥18.5个体的4.350倍。结论NRAMP1rs17235409、NRAMP1rs17235416和Sp110rs3948464位点基因多态性与结核病易患有关。

Objective To explore the relationship between NRAMP1,Sp110 gene polymorphism and susceptibility to tuberculosis(TB)in inner Mongolia population.Methods A case-control study was conducted,a total of 180 TB patients and184 healthy controls were selected in inner Mongolia population.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)test was performed by using blood samples to detect the genotypes,and analyze the genotype frequency distribution in the case group and the control group.The relationship between genotype and environmental factors and TB susceptibility was analyzed withχ^2 test and logistic regression.Results Single factorχ^2 analysis indicated that except body mass index(BMI)the other factors had balanced distribution between two groups,the gene polymorphisms of NRAMP1 rs17235409,NRAMP1 rs17235416 and Sp110 rs3948464 loci were associated with the susceptibility to TB,the susceptibilities of mutated genotype GA+AA,TGTG/(-)+(-)/(-),and CC to TB were 1.784,4.745 and 3.061 times higher than those of non-mutated genotype GG,TGTG/TGTG,TT.People with BMI<18.5,a risk factors for TB,had a 4.350 times higher risk for TB compared with those with BMI≥18.5.Conclusion The gene polymorphisms of NRAMP1 rs17235409,NRAMP1 rs17235416 and Sp110 rs3948464 loci is associated with the susceptibility to TB in inner Mongolia population.