NRAMP1基因多态性与青海藏族肺结核患者易感性的相关性研究

Study of the correlation between NRAMP1 gene polymorphisms and susceptibility to tuberculosis in Tibetan people in Qinghai

目的：研究NRAMP1基因多态性与青海藏族人群结核病（ tuberculosis,TB）易感性的相关性。方法采用病例-对照研究。 TaqMan探针法对NRAMP1基因rs17235409 G/A、rs3731865 G/C进行基因分型,利用基因克隆测序的方法对 rs17235416 TGTG/del 进行分型。数据分析利用SPASS20.0软件进行,采用χ2检验分析NRAMP1基因3个位点与TB的关系。结果 NRAMP1基因rs17235409、re3731865位点分布结果分别为χ2=0.852,P=0.356；χ2=0.279,P=0.597,与青海藏族TB无相关性；3′UTR病例组中TGTG/TGTG、TGTG/del＋del/del基因型频率分别为70.7%、29.3%；对照组分别为86.5%、13.5%。χ2检验结果显示,两组基因型分布差异有统计学意义（χ2=7.162,P=0.028）。结论 NRAMP1基因rs3731865、rs17235409位点多态性与青海藏族TB易感性无相关性；rs17235416多态性与青海藏族 TB 有相关性, TGTG/del 等位基因可能是青海藏族人群 TB 的易感基因。

Objective To investigate the correlation between NRAMP1 gene polymorphisms and susceptibility to tuberculosis （ TB） in Tibetan people in Qinghai. Methods A case-control study was con-ducted in this study, involving 99 Tibetan patients with TB and 89 healthy Tibetans. The single nucleotide polymorphisms of NRAMP1 gene at rs17235409 and rs3731865 sites were detected by using TaqMan probe method. Gene cloning and sequencing typing were performed to analyze the single nucleotide polymorphisms of NRAMP1 gene at the rs17235416 site. SPASS20. 0 software was used to statistically analyze the correla-tion between NRAMP1 gene polymorphisms and susceptibility to TB in Tibetan people. Results No signifi-cant difference in the genotype frequencies of rs3731865 and rs17235409 was found between the two groups （χ2=0. 852, P=0. 356;χ2=0. 279, P=0. 597）. The genotype frequencies of TGTG/TGTG and TGTG/del＋del/del at the rs17235416 site were 70. 7% （ 70/99 ） and 29. 3% （ 29/99 ） in patients with TB and 86. 5% （77/89） and 13. 5% （12/89） in healthy subjects. There were significant differences in the geno-type frequencies of TGTG/TGTG and TGTG/del＋del/del between the two groups （χ2=6. 870, P=0. 009）. The genotypes of TGTG/del and del/del at rs17235416 were risk factors for TB （ OR=0. 376; 95%CI：0. 178-1. 794 as compared with the TGTG/TGTG genotype in Tibetan people in Qinghai. Conclusion This study suggested that the NRAMP1 gene polymorphisms at rs3731865 and rs1723409 sites had no correlation with the susceptibility to TB in Tibetans in Qinghai. However, the NRAMP1 gene polymorphisms at rs17235416 site were correlated with the susceptibility to TB. The TGTG/del alleles at the rs17235416 site might be the risk factors for tuberculosis in Tibetans in Qinghai.