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目的探讨中国汉族和维吾尔族人群MRC1基因多态性与肺结核病易感性的联系。方法应用PCR和DNA测序技术,对中国汉族454例和维吾尔族595例人群的MRC1基因的第7号外显子6个SNPs(G1186A、G1195A、T1212C、C1221G、C1303T和C1323T)基因型及基因频率分布进行检测,并进行连锁不平衡分析。结果中国汉族人群中G1186A位点等位基因G型分布频率在肺结核病组和正常健康组之间存在显著差异(P=0.037;OR=0.76;95%CI:0.58～0.98);AG基因型在两组之间存在显著性差异(P<0.01;OR=0.57;95%CI:0.37～0.87)。在年龄和性别校正后,G1186A位点在显性(P<0.01;OR=0.59;95%CI:0.40～0.87)、超显性(P=0.045;OR=0.69;95%CI:0.47～0.99)和加性模式(P=0.041;OR=0.76;95%CI:0.59～0.99)时,与肺结核病存在显著相关性。在维吾尔族人群中G1186A位点的等位基因G的分布频率在两组之间的分布具有显著性差异(P=0.031;OR=1.29;95%CI:1.02～1.62);基因型分析发现AA基因型在两组之间也存在显著性差异(P=0.033;OR=1.64;95%CI:1.04～2.60);在年龄和性别校正后,G1186A位点在加性模式下与肺结核病存在相关性(P=0.033;OR=1.28;95%CI:1.02～1.61)。连锁不平衡分析发现,构建的单体型GGTCCT(P=0.032;OR=0.75;95%CI:0.57～0.97)和GGTCCC(P=0.044;OR=0.57;95%CI:0.33～0.99)与肺结核病存在显著的相关性。结论 MRC1基因G1186A位点与中国人群肺结核病相关。
Objective To investigate the relationship between MRC1 gene polymorphism and pulmonary tuberculosis susceptibility in Chinese Han and Uighur populations. Methods The genotypes and frequency distribution of 6 SNPs of exon 7 (G1186A, G1195A, T1212C, C1221G, C1303T and C1323T) in MRC1 gene of 454 Chinese Han and 595 Uighur Chinese were analyzed by PCR and DNA sequencing. For testing, and for linkage disequilibrium analysis. Results There was a significant difference in G genotype distribution between G1186A allele and Han nationality in Chinese Han population (P = 0.037; OR = 0.76; 95% CI: 0.58-0.98) There was a significant difference between the two groups (P <0.01; OR = 0.57; 95% CI: 0.37-0.87). The G1186A locus was significantly (P <0.01; OR = 0.59; 95% CI: 0.40 to 0.87) after age and gender correction and was significantly (P = 0.045; OR = 0.69; 95% CI: 0.47 to 0.99 ) And the additive model (P = 0.041; OR = 0.76; 95% CI: 0.59-0.99) were significantly associated with pulmonary tuberculosis. The distribution frequency of allele G at G1186A locus in Uygur population was significantly different between the two groups (P = 0.031; OR = 1.29; 95% CI: 1.02-1.62). Genotype analysis showed that AA There was also a significant difference in genotype between the two groups (P = 0.033; OR = 1.64; 95% CI: 1.04-2.60); G1186A locus correlated with tuberculosis in additive model after age and gender correction (P = 0.033; OR = 1.28; 95% CI: 1.02-1.61). Linkage disequilibrium analysis found that the haplotype GGTCCT (P = 0.032; OR = 0.75; 95% CI: 0.57-0.97) and GGTCCC (P = 0.044; OR = 0.57; 95% CI: 0.33-0.99) There is a significant correlation between the disease. Conclusion The G1186A locus of MRC1 gene is associated with pulmonary tuberculosis in Chinese population.