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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。
Objective To investigate the relationship between erythrocyte complement receptor 1 (CR1) single nucleotide polymorphism (SNP) and the pathogenesis of bone and joint tuberculosis. Methods Peripheral blood samples were collected from 110 patients with tuberculosis of tuberculosis (experimental group) and 104 healthy controls (control group). Three single nucleotide polymorphisms (SNPs) of rs1118167C / T, rs2274567G / A and rs4844600G / A). The CR1 expression levels in two groups were analyzed. The genotypes of CR1 genotypes in two groups were different in CR1 level. The genotypes and alleles Distribution and its relationship with the risk of bone and joint tuberculosis. Results The rs4844600G / A genotype and allele distribution in the two groups were significantly different (P <0.05). The rs4844600G / A locus of GG genotype carriers of CR1 had a 2.262-fold (95% CI: 1.275-4.013) risk of having joint-to-tuberculosis compared with non-carriers, and the risk of allele G carriers was non-carriers 1.565 times (95% CI: 1.058 ~ 2.314). The rs11118167C / T and rs2274567G / A SNPs were not related to the risk of osteoporosis (P> 0.05). The mean fluorescence intensity of CR1 in healthy control group was 50.87 ± 14.526, which was higher than that in tuberculous tuberculosis group (38.95 ± 12.794, t = -6.379, P <0.001). The polymorphisms of rs11118167 C / T, rs2274567 G / A and rs4844600 G / A of CR1 gene were not associated with the level of CR1 in erythrocytes of patients with osteoarticular tuberculosis in osteoarticular tuberculosis group (P> 0.05). In the healthy control group, the CR1 level of erythrocytes in carriers of CC and CT genotypes at rs11118167 C / T locus was lower than that of TT genotypes; the CR1 levels of G22 genotype carriers at rs2274567G / A locus were lower than those with AA genotypes (P <0.05). Conclusion The erythrocyte immune function in patients with osteoarticular tuberculosis is decreased. The rs4844600G / A locus of CR1 gene is related to the incidence of osteoarthritis. The GG genotype of rs4844600G / A locus in CR1 gene is not associated with low CR1 level in patients with osteoarticular tuberculosis.