目的：探讨 T 细胞免疫球蛋白域黏蛋白域蛋白（Tim）-1外显子4上的5509-5511delCAA 基因多态性与云南高原地区汉族人群类风湿关节炎（RA）的遗传易感性有无关联。方法采用 PCR-DNA 测序法对196例云南汉族 RA 患者和190例健康体检者 Tim-1外显子4上的5509-5511delCAA 基因多态性进行检测，同时采用 ELISA 法和间接免疫荧光法检测其类风湿因子（RF）、抗环瓜氨酸肽（CCP）、抗角蛋白抗体（AKA）3种自身抗体。结果 RA 组和对照组 Tim-1外显子4上多态性位点5509-5511delCAA 的基因型及等位基因频率差异有统计学意义（P ＜0．05）；RA 组 Tim-1外显子4上5509-5511delCAA 位点不同基因型中3种自身抗体，RF、CCP 阳性率检测的差异无统计学意义（P ＞0．05），而 AKA 阳性率检测的差异有统计学意义（P ＜0．05）。结论云南汉族人群 Tim-1外显子4上的5509-5511delCAA 位点存在多态性变异，且其多态性变异与 RA 遗传易感性相关，其不同基因型不会影响 RA 相关自身抗体 RF、CCP 的表达，而对 AKA 的表达有影响。%Objective To analyze the association between the polymorphism of 5509-5511delCAA in exon4 of Tim-1 gene and the susceptibility to rheumatoid arthritis(RA)in a group of Han population from Yunnan province.Methods The PCR-DNA se-quencing analysis was used to detect the polymorphism of 5509-5511delCAA in exon4 of Tim-1 gene in 196 RA Han nationality pa-tients and 190 individuals of healthy physical examination(control).The ELISA method and indirect immunofluorescence assay was adopted to detect the three related aotuantibodies of RA,including the rheumatoid factors(RF)and the anti-cyclic citrullinated pep-tide(Anti-CCP)and the anti-keratin antibodies(AKA).Results There were statistically significant differences in genotype and al-lele frequency of 5509-5511delCAA between the RA group and the control group(P <0.05);the positive rate of RF and the anti-CCP between different genotypes of 5509-5511delCAA in the RA group had no statistically significant differences(P >0.05 ),but the positive rate of AKA between different genotypes of 5509-5511delCAA in the RA group had statistically significant differences (P <0.05).Conclusion The 5509-5511delCAA site of Tim-1 exon4 has the polymorphic variation,the 5509-5511delCAA genotype maybe related with the genetic susceptibility to RA in Han population of Yunnan province,the different genotypes does not affect the expression of RF and the anti-CCP,but affects the expression of AKA.
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