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目的探讨湖北地区汉族人群T细胞免疫球蛋白域黏蛋白域蛋白-1(TIM-1)外显子4基因多态性与类风湿关节炎(RA)之间的关系。方法采用聚合酶链反应(PCR)法检测86例RA患者和1130名正常对照的TIM-1外显子4插入,缺失多态性,同时检测类风湿因子(RF)、抗CCP抗体和抗角蛋白抗体(AKA)三种自身抗体。结果正常对照组TIM-1外显子4 del/del、ins/del和ins/ins基因型频率分别为0．650、0．280、0．070；RA组TIM-1外显子4 del/del、ins/del和ins/ins基因型频率分别为0．616、0．302、0．082,与对照组相比,差异无统计学意义(P＞0．05)。RA组RF、抗CCP抗体和AKA检测阳性率分别为79．08%、73．26%和53．49%,与对照组比较均有统计学意义(P＜0．01)。通过统计分析发现RA组中RF、抗CCP抗体检测阳性率与TIM-1外显子4基因分型均无相关性(P＞0．05)；AKA检测阳性率与TIM-1外显子4基因分型显著相关(P＜0．01)。结论湖北地区汉族人群TIM-1外显子4插入/缺失多态性与RA无相关性,TIM-1外显子4基因分型可能影响RA患者抗角蛋白抗体的表达。
Objective To investigate the relationship between polymorphism of T-cell immunoglobulin domain mucin domain protein-1 (TIM-1) exon 4 gene and rheumatoid arthritis (RA) in Han nationality in Hubei province. Methods The insertional and deletion polymorphisms of TIM-1 exon 4 in 86 patients with RA and 1130 normal controls were detected by polymerase chain reaction (PCR). The levels of rheumatoid factor (RF), anti-CCP and anti- Protein antibodies (AKA) three autoantibodies. Results The frequencies of TIM-1 exon 4 del / del, ins / del and ins / ins genotypes were 0.650, 0.280 and 0.070 in normal control group respectively. The TIM-1 exon 4 del / The frequencies of del, ins / del and ins / ins genotypes were 0.616, 0.302 and 0.082, respectively. There was no significant difference between the two groups (P> 0.05). The positive rates of RF, anti-CCP and AKA in RA group were 79.08%, 73.26% and 53.49%, respectively, which were significantly higher than those in control group (P <0.01). Statistical analysis showed that the positive rates of RF and anti-CCP in RA group were not correlated with TIM-1 exon 4 genotype (P> 0.05). The positive rates of AKA and TIM-1 exon 4 Genotypes were significantly correlated (P <0.01). Conclusion There is no correlation between TIM-1 exon 4 insertion / deletion polymorphism and RA in Han nationality in Hubei province. TIM-1 exon 4 genotype may affect the expression of anti-keratin antibodies in RA patients.