TIM-1外显子4基因多态性与类风湿关节炎关系的研究

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。

The relationship between the exon 4 gene polymorphism of TIM-1 and rheumatoid arthritis

Objective To investigate the relationship between the exon 4 gene polymorphism of TIM-1 and rheumatoid arthritis (RA) in Han population from Hubei province.Methods Polymerase chain reaction was used to detect the ins/del polymorphism of the exon 4 of TIM-1 from RA population and the normal con- trols.Rheumatoid factor (RF),anti-cyclic citrullinated peptide (CCP) antibody and anti-keratin antibody (AKA) were also detected.Results Two alleles,a wild type del and a variant allele ins were identified in the TIM-1 exon 4.The genotype frequencies of del/del,ins/del and ins/ins were 0.650,0.280 and 0.070 respec- tively in the normal controls and 0.616,0.302,0.082 respectively in RA population.There was a significant correlation between the positive ratio of AKA and the genotypes of the exon 4.Conclusion The polymorphism of the exon 4 of TIM-1 is not associated with rheumatoid arthritis in Han population from Hubei Province of China.The genotypes of the exon 4 may have an effect on the expression of AKA.