State Key Laboratory of Pathogen and Biosecurity, Beijing Institute of Microbiology and Epidemiology, Beijing, People's Republic of China.
PLoS One. 2011;6(8):e24069. doi: 10.1371/journal.pone.0024069. Epub 2011 Aug 23.
Susceptibility to tuberculosis is not only determined by Mycobacterium tuberculosis infection, but also by the genetic component of the host. Macrophage receptor with a collagenous structure (MARCO) is essential components required for toll like receptor-signaling in macrophage response to Mycobacterium tuberculosis, which may contribute to tuberculosis risk.
To specifically investigated whether single nucleotide polymorphisms (SNPs) in MARCO gene are associated with pulmonary tuberculosis in Chinese Han population. By selecting tagging SNPs in MARCO gene, 17 tag SNPs were identified and genotyped in 923 pulmonary tuberculosis patients and 1033 healthy control subjects using a hospital based case-control association study. Single-point and haplotype analysis revealed an association in intron and exon region of MARCO gene. One SNP (rs17009726) was associated with susceptibility to pulmonary tuberculosis, where the carriers of the G allele had a 1.65 fold (95% CI = 1.32-2.05, p(corrected) = 9.27E-5) increased risk of pulmonary tuberculosis. Haplotype analysis revealed that haplotype GC containing G allele of 17009726 and haplotype TGCC (rs17795618T/A, rs1371562G/T, rs6761637T/C, rs2011839C/T) were also associated with susceptibility to pulmonary tuberculosis (p(corrected) = 0.0001 and 0.029, respectively).
Our study suggested that genetic variants in MARCO gene were associated with pulmonary tuberculosis susceptibility in Chinese Han population, and the findings emphasize the importance of MARCO mediated immune responses in the pathogenesis of tuberculosis.
结核病的易感性不仅取决于结核分枝杆菌感染，还取决于宿主的遗传成分。巨噬细胞受体具有胶原结构（MARCO）是巨噬细胞对结核分枝杆菌反应中 Toll 样受体信号所必需的组成部分，这可能导致结核病的风险。
为了专门研究 MARCO 基因中的单核苷酸多态性（SNP）是否与中国汉族人群的肺结核有关。通过选择 MARCO 基因中的标记 SNP，在 923 例肺结核患者和 1033 例健康对照中，使用基于医院的病例对照关联研究，鉴定并分型了 17 个标记 SNP。单点和单体型分析显示 MARCO 基因的内含子和外显子区域存在关联。一个 SNP(rs17009726)与肺结核易感性相关，G 等位基因携带者患肺结核的风险增加 1.65 倍(95%CI=1.32-2.05，p(corrected)=9.27E-5)。单体型分析显示，含有 17009726 位 G 等位基因的单体型 GC 和单体型 TGCC(rs17795618T/A、rs1371562G/T、rs6761637T/C、rs2011839C/T)也与肺结核易感性相关(p(corrected)=0.0001 和 0.029，分别)。
我们的研究表明，MARCO 基因中的遗传变异与中国汉族人群的肺结核易感性相关，这些发现强调了 MARCO 介导的免疫反应在结核病发病机制中的重要性。
