自然抗性相关巨噬细胞蛋白1基因 与云南汉族人肺结核易感性的相关性研究

目的探究自然抗性相关巨噬细胞蛋白1（NRAMP1）基因D543N、INT4位点多态性与肺结核易感的相关性。方法采用病例-对照研究，挑选122例痰涂片阳性的云南汉族活动性肺结核病人为病例组，另选同期101名与病例组民族、年龄、性别相匹配的健康体检者为对照组。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术对2组入选者NRAMP1基因D543N、INT4位点多态性进行分型。结果INT4位点野生纯合子（G/G）、杂合子（G/C）、突变纯合子（C/C）在病例组和对照组的分布频率分别为66.4%、32.0%、1.6%和86.1%、12.9%、1.0%，2组差异有统计学意义（P < 0.01），其中杂合型（G/C）携带者肺结核的患病风险为野生纯合型（G/G）的3.22倍（95%CI:1.61~6.47）。而D543N位点野生纯合子（G/G）、杂合子（G/A）、突变纯合子（A/A）在病例组和对照组的分布频率分别为61.5%、36.9%、1.6%和70.3%、29.7%、0%，差异无统计学意义（P>0.05）。结论基因INT4位点多态性可能影响云南汉族人群对肺结核的易感性。

Study on the correlation of natural-resistance-associated macrophage protein 1 gene with susceptibility to pulmonary tuberculosis in Yunnan Han population

ObjectiveTo investigate the correlation between the polymorphisms of D543N and INT4 locus of natural-resistance-associated macrophage protein 1(NRAMP1) gene and susceptibility to pulmonary tuberculosis.MethodsA case-control study was conducted.One hundred and twenty-two Yunnan Han nationality patients with positive sputum smear were set as the case group, and 101 healthy physical examiners with nationality, age and gender matching with the case group were set as the control group at the same period.The polymerase chain reaction and restriction fragment length polymorphism technique were used to type the D543N and INT4 polymorphisms of NRAMP1 gene in two groups.ResultsThe distribution frequencies of wild homozygotes(G/G), heterozygotes(G/C) and mutant homozygotes(C/C) at the INT4 locus were 66.4%, 32.0% and 1.6% in the case group, and 86.1%, 12.9% and 1.0% in control group, respectively, the difference of which between two groups was statistically significant(P < 0.01), and the risk of tuberculosis in heterozygous(G/C) carriers was 3.22 times that of wild homozygous(G/G)(95%CI:1.61~6.47).The distribution frequencies of wild homozygotes(G/G), heterozygotes(G/A) and mutant homozygotes(A/A) at the D543N locus were 61.5%, 36.9% and 1.6% in case group, and 70.3%, 29.7% and 0% in control group, respectively, and the difference of which was not statistically significant(P>0.05).ConclusionsThe polymorphism of INT4 locus of NRAMP1 gene may affect the susceptibility to pulmonary tuberculosis in Yunnan Han population.