中文摘要：

目的探讨红细胞补体受体1（CR1）单核苷酸多态性（SNP）与骨关节结核（bone and joint tuberculosis）发病的关系。方法收集110例骨关节结核患者（实验组）和104例健康体检者（对照组）的外周血样本,采用单碱基延伸的PCR技术和DNA测序方法对CR1基因3个SNP位点（rs11118167C/T、rs2274567G/A、rs4844600G/A）进行多态性检测,分析2组CR1表达水平、2组CR1基因各SNP位点基因型对于CR1水平差异、CR1基因各SNP位点基因型、等位基因的分布差异及其与骨关节结核患病风险的关系。结果 2组rs4844600G/A基因型和等位基因分布的差异有统计学意义（P〈0.05）。CR1基因rs4844600G/A位点GG基因型携带者患骨关节结核的风险为非携带者的2.262倍（95%CI：1.275～4.013）,其等位基因G携带者患病风险为非携带者的1.565倍（95%CI：1.058～2.314）。rs11118167C/T、rs2274567G/A这2个SNP位点与骨关节结核的患病风险无关（P〉0.05）。健康对照组CR1的平均荧光前强度为50.87±14.526,高于骨关节结核组的38.95±12.794,差异有统计学意义（t=-6.379,P〈0.001）。骨关节结核组中,CR1基因rs11118167 C/T、rs2274567 G/A和rs4844600 G/A位点多态性与骨关节结核患者红细胞CR1水平无关（P〉0.05）。健康对照组中,rs11118167 C/T位点CC、CT基因型携带者的红细胞CR1水平低于TT基因型者;rs2274567G/A位点GG、GA基因型携带者的CR1水平低于AA基因型者（P〈0.05）。结论骨关节结核患者红细胞免疫功能降低,CR1基因rs4844600G/A位点与骨关节结核发病相关,CR1基因rs4844600G/A位点GG基因型与骨关节结核患者CR1水平低无关。

英文摘要：

To investigate the association between single nucleotide polymorphisms （SNP） of erythrocyte complement receptor type 1（CR1） and the susceptibility of bone and joint tuberculosis, a hospital-based case-control study was conducted in 110 cases with bone and joint tuberculosis and 104 healthy controls. The samples were collected for the detection of three SNPs （rs11118167C/T, rs2274567G/A, rs4844600G/A） of CR1 gene by polymerase chain reaction-single base extension technique （PCR-SBE） and DNA sequencing method. The genotypes and alleles frequency were analyzed statistically and their relationship with the susceptibility to bone and joint tuberculosis was evaluated. Meanwhile, the CR1 levels on erythrocyte of two groups and the inter-group differences of CR1 levels among every three genotypes from three SNPs of CR1 gene in two groups were compared. Data showed that there was significant association between rs4844600 G/A and the risk of bone and joint tuberculosis （P 〈 0.05）. Compared with control group, the risk of developing bone and joint tuberculosis of genotype GG at rs4844600 carriers increased by 2.262 folds （95% CI：1.275-4.013） and that of G allele carriers increased by 1.565 folds （95% CI：1.058-2.314）. The mean fluorescent intensity （MFI） of bone and joint tuberculosis group （38.95 ±12.794） was significantly lower than that （50.87 ±14.526） of the control group. In the bone and joint tuberculosis group, the rs11118167 C/T, rs2274567 G/A and rs4844600 G/A nolvmorohism had no significantcorrelation with the level control group, the CR1 of CR1 （P 〉 0.05）; in the gene rs 11118167 C/T-TTgenotype, rs2274567 G/A-AA genotype and rs2296160 G/A-AA genotype were associated withthe increase of CR1 level （P 〈 0.05）, while rs4844600 G/A polymorphism had no significant correlation with the level of CR1 （P 〉 0.05）. Taken together, rs4844600 G/A of CR1 gene is assoeiated with bone and joint tuberculosis, but CRl-rs4844600 G/A-GG is not associated with the lower