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目的结核病在全球具有死灰复燃的趋势,宿主遗传因素在结核病发生、发展中的作用越来越受到人们的重视,NRAMP1基因多态性可能参与结核病的发病。该研究探讨NRAMP1基因多态性与中国汉族儿童结核病易感性的相关关系。方法病例组为2005年1月至2008年3月北京儿童医院收治的汉族儿童结核病人130例,另选390例外科术前体检儿童,按照年龄、性别、民族以及地区与病例组进行匹配。应用PCR-RFLP分析方法,分别对NRAMP1基因INT4和D543N位点多态性与儿童结核病易感性进行相关分析。结果NRAMP1基因D543N位点变异型基因型(G/A和A/A)频率,病例组(34/130)明显高于对照组(66/390),差异显著(2χ=5.349,P<0.05;OR=1.74,95%CI=1.08~2.79);INT4位点没有统计学差异。分析不同性别的影响,显示D543N位点变异型基因型在病例组女患儿(16/52)明显高于对照组(21/155),差异有显著性(2χ=7.866,P<0.05,OR=2.84,95%CI=1.34~5.99);而病例组中的男患儿(18/78)和对照组(45/235)之间差异无显著性;INT4位点无论男还是女都没有差异。结论NRAMP1基因D543N位点变异与中国汉族儿童结核病易感性存在相关;D543N位点G/A和A/A基因型可能是中国汉族儿童结核病的易感基因型,NRAMP1变异型基因型更易导致女孩患结核病。
The purpose of TB in the world with a resurgence of the trend of host genetic factors in the occurrence and development of tuberculosis has been more and more attention, NRAMP1 gene polymorphism may be involved in the pathogenesis of tuberculosis. This study explored the relationship between NRAMP1 gene polymorphism and tuberculosis susceptibility in Chinese Han children. Methods The case group consisted of 130 children with Han who were admitted to Beijing Children’s Hospital from January 2005 to March 2008 and 390 children were selected as surgical preoperative. The children were matched with the case group by age, gender, ethnicity and region. PCR-RFLP analysis was used to analyze the polymorphisms of NRAMP1 gene INT4 and D543N loci and tuberculosis susceptibility in children respectively. Results The frequencies of G / A and A / A genotypes of D543N locus in NRAMP1 gene group were significantly higher than those in control group (34/130) (66/390) (2χ = 5.349, P <0.05; OR = 1.74, 95% CI = 1.08 ~ 2.79). There was no statistical difference in INT4 locus. Analysis of gender differences showed that the genotype of D543N mutation was significantly higher in female patients (16/52) than in controls (21/155) (2χ = 7.866, P <0.05, OR = 2.84, 95% CI = 1.34 ~ 5.99). There was no significant difference between the male patients (18/78) and the control group (45/235) in the case group. There was no difference in the INT4 locus between male and female . Conclusion The D543N mutation in NRAMP1 gene is associated with the susceptibility to tuberculosis in Han Chinese children. The G / A and A / A genotypes at D543N locus may be susceptible to tuberculosis in Chinese Han children, while the NRAMP1 variant genotype may be more likely to lead to girls’ Tuberculosis.