贵州汉族类风湿性关节炎白细胞介素18基因的多态性与类风湿因子、抗环瓜氨酸肽抗体的相关性研究

Polymorphisms of IL-18 gene in rheumatoid arthitis and its association with rheumatoid factor or anti-cyclic citrulliated peptide antibody in Han population of Guizhou of China

目的探讨贵州汉族人群白细胞介素18(interleukin-18,IL-18)基因启动子单个核苷酸多态性与类风湿性关节炎(rheumatoid arthritis,RA)的发生是否存在关联,以及对类风湿因子、抗环瓜氨酸肽抗体产生的影响。方法采用序列特异性引物的聚合酶链反应技术分析107例RA患者和100例健康体检者的IL-18基因启动子在-607/-137位点的单个核苷酸多态性;分别采用乳胶凝集试验、酶联免疫吸附测定检测RA患者的类风湿因子和抗环瓜氨酸肽抗体。结果 RA患者组与健康对照组在IL-18基因-607位点的等位基因频率的分布及基因型频率的分布比较差异均有统计学意义(χ2=7.651、4.968,P<0.05),两组在-137位点的等位基因频率及基因型频率的分布比较均无统计学意义(χ2=1.439、1.833,P>0.05);在RA患者中,类风湿因子阳性率为69.2%,抗环瓜氨酸肽抗体阳性率为83.2%,IL-18基因-607位点的基因型在抗环瓜氨酸肽抗体阳性组与阴性组间的频率分布差异无统计学意义(χ2=0.709,P>0.05),而在类风湿因子阳性组与阴性组间的基因型频率分布差异有统计学意义(χ2=6.859,P<0.05)。结论贵州地区汉族人群IL-18基因启动子-607位点的多态性与RA的易感性显著相关;IL-18基因启动子-607位点的多态性与RA患者类风湿因子存在关联。

Objective To investigate whether the single-nucleotide polymorphisms of the interleukin-18（IL-18） gene promoter region at the position-607 and-137 are associated with susceptibility to rheumatoid arthitis（RA） in Han population of Guizhou Province of China,and the effect on rheumatoid factor（RF） and anti-cyclic citrulliated peptide（anti-CCP） antibody.Methods Using polymerase chain reation with sequence specific primers method,the single-nucleotide polymorphisms of the promoter region of IL-18 gene at position-607 and-137 were detected in 107 RA patients and 100 normal controls.Anti-CCP antibody was detected by enzyme-linked immunosorbnent assay and RF by latex agglutination in the RA patients.Results As a whole,there was significant difference in the distributions of the IL-18-607 genotype frequencies and allele frequency in RA patients compared with those of normal controls（χ2=7.651,4.968,P0.05）.There were no significant difference in the genotypes and allele freqencies of the IL-18-137 in RA patients compared with those of normal controls（χ2=1.439,1.833P0.05）.The positive rate of RF and anti-CCP antibody were 69.2% and 83.2% respectively in RA patients.On the distribution of IL-18-607 genotypic frequencies,no significant defference was observed between positive group and negative group of the anti-CCP antibody（χ2=0.709,P0.05）,and there were significant differences between RF positive group and RF negative group（χ2=6.859,P0.05）.Conclusion The results suggest the polymorphisms of the promoter region of IL-18 gene at position-607 are closely associated with susceptibility to RA in Han population of Guizhou province of China.The polymorphisms of IL-18 gene at position-607 might show correlation with RF in RA pationts.