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目的分析雌激素受体(ER)基因XbaⅠ和PvuⅡ酶切多态性在女性类风湿关节炎(RA)中的分布,探讨其与人类白细胞抗原(HLA)-DRβ1*04基因亚型、类风湿因子(RF)以及RA患者临床表现的关系。方法采用聚合酶链反应-限制性片断长度多态性(PCR-RFLP)技术,对81例女性RA患者和146名女性正常对照者的ER基因(XbaⅠ、PvuⅡ位点)进行分型,并计算基因分布频率。分析患者的HLA-DRβ1*04基因亚型、RF以及临床表现与ER基因多态性之间的关系。结果女性RA患者的ER基因X、P基因频率均明显高于健康对照组,ER基因的XX和PP基因亚型的阳性率分别高于正常对照组(P<0.05)。而RA患者的xx基因亚型的阳性率明显低于健康对照组(P<0.05)。RA患者XXPP基因型的阳性率明显高于健康对照组,而xxpp基因型的阳性率明显低于健康对照组(P<0.05)。携带PP基因型的RA患者HLA-DRβ1*04基因亚型的阳性率明显升高(P<0.05)。ER基因中pp基因型、XXpp和xxPP基因型的患者关节受累数明显增高(P<0.05)。结论女性RA患者ER基因的X和P的基因频率表达明显增高。ER基因酶切多态性分析中,XX、PP及XXPP基因型可能与女性RA的易感性相关。PP基因型可能与HLA-DRβ1*04基因有一定的相关性,pp基因型、XXpp和xxPP基因型可能与RA关节病变的程度相关。
Objective To analyze the distribution of Xba Ⅰ and Pvu Ⅱ polymorphisms of estrogen receptor (ER) gene in female patients with rheumatoid arthritis (RA) and to explore its relationship with human leukocyte antigen (HLA) -DRβ1 * 04 genotype, rheumatoid Factors (RF) and the clinical manifestations of RA patients. Methods The ER gene (Xba Ⅰ, Pvu Ⅱ) in 81 female RA patients and 146 normal controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) Gene distribution frequency. Analysis of the patient’s HLA-DRβ1 * 04 gene subtypes, RF and clinical manifestations and the relationship between ER gene polymorphisms. Results The frequencies of X and P gene of ER gene in RA patients were significantly higher than those in healthy controls. The positive rates of XX and PP genotypes in ER gene were higher than those in normal controls (P <0.05). The positive rate of xx genotype in RA patients was significantly lower than that in healthy controls (P <0.05). The positive rate of XXPP genotype in RA patients was significantly higher than that in healthy controls, while the positive rate of xxpp genotype was significantly lower than that in healthy controls (P <0.05). The positive rate of HLA-DRβ1 * 04 subtypes in RA patients with PP genotype was significantly increased (P <0.05). The pp genotype of ER gene, the joint involvement of XXpp and xxPP genotypes were significantly increased (P <0.05). Conclusion The frequencies of X and P gene of ER gene in female patients with RA were significantly increased. ER genotyping polymorphism analysis, XX, PP and XXPP genotypes may be associated with the susceptibility of RA. The PP genotype may be related to the HLA-DRβ1 * 04 gene. The pp genotype, XXpp genotype and xxPP genotype may be related to the degree of RA joint disease.