NRAMP1和SP110基因多态性与蒙古族结核病易患的关系

目的 探讨NRAMP1基因rs17235409A/G、NRAMP1基因rs17235416TGTG/(-)和Sp110基因rs3948464C/T位点（以下简称NRAMP1rs17235409、NRAMP1rs17235416、SP110rs3948464）基因多态性与蒙古族结核病易患的关系。方法 采用病例-对照研究，收集蒙古族132例结核病患者和108例健康体检者静脉血，应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法检测3个位点基因分型，运用卡方检验、广义多因子降维法(Generalized Multifactor Dimensionality Reduction，GMDR)分析NRAMP1和Sp110基因多态性及交互作用与结核病易患的关系。 结果 (1)病例组和对照组NRAMP1rs17235409位点GG型,GA型,AA型和NRAMP1rs17235416位点TGTG/TGTG型,TGTG/(-)型,(-)/(-)型基因频率分别为66.67%,30.30%,3.03% vs 86.11%,12.96%,0.93%和60.61%,33.33%,6.06% vs 80.55%,18.52%,0.93%，2个位点基因型与等位基因型在两组的构成均存在差异(〖XC五号.EPS;P〗=12.178,〖XC五号.EPS;P〗=12.462;〖XC五号.EPS;P〗=11.935,〖XC五号.EPS;P〗=13.193,均P＜0.05)。(2)Sp110rs3948464位点CC型和CT型在病例组和对照组的基因频率分别为90.15%,9.85% 和71.30%,28.70%，2组间基因型与等位基因型构成存在差异 (〖XC五号.EPS;P〗=14.105;〖XC五号.EPS;P〗=12.681,均P＜0.05)。(3)GMDR法分析结果显示，NRAMP1rs3948464和NRAMP1rs17235409位点之间存在交互作用(P＜0.05)。结论 NRAMP1rs17235409,NRAMP1rs17235416和Sp110rs3948464位点基因多态性与蒙古族结核病易患有关，NRAMP1rs17235409,NRAMP1rs17235416两位点基因多态性存在交互作用。

Relationship between NRAMP1, SP110 gene polymorphism and interaction with Mongolian tuberculosis

Objective To investigate the relationship between NRAMP1rs17235409A/G, NRAMP1rs17235416TGTG/ (-), Sp110rs3948464C/T gene polymorphism and Mongolian tuberculosis (TB) susceptibility. Methods With case-control study, blood of 132 cases of Mongolian tuberculosis patients and 108 cases of healthy people in Inner Mongolia was collected. The genotypes of the blood samples were tested with PCR-RFLP. The relationship between the gene polymorphism and interaction of NRAMP1 and Sp110 and TB susceptibility was analyzed by chi-square test and GMDR software. Results (1) NRAMP1rs17235409 site GG, GA, AA type and rs17235416 site TGTG/TGTG, TGTG/(-), (-)/(-) type gene frequencies of the two groups were 66.67%, 30.30%, 3.03% vs 86.11%, 12.96%, 0.93% and 60.61%, 33.33%, 6.06% vs 80.55%, 18.52%, 80.55%, respectively, and two site genotype frequencies and allele frequency distributions of the two groups were statistically significant (χ2=12.178, P<0.05; χ2=12.462, P<0.05; χ2=11.935, P<0.05; χ2=13.193, P<0.05 ). (2) Sp110rs3948464 site CC, CT type gene frequency of the two groups were 90.15%, 9.85% and 71.30%, 28.70%, respectively, and the genotype frequency and allele frequency distribution difference were statistically significant (χ2=14.105, P<0.05; χ2=12.681, P<0.05). (3) GMDR analysis showed that there was an interaction between NRAMP1rs17235416 and NRAMP1rs17235409 (P<0.05). Conclusion Genetic polymorphisms of NRAMP1rs17235409, NRAMP1rs17235416 and Sp110rs3948464 are related to the susceptibility of Mongolian tuberculosis and there is an interaction between NRAMP1rs17235409 and NRAMP1rs17235416.