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内蒙古地区汉族类风湿关节炎与HLA-DRB1基因共同表位的相关性研究 被引量:4

Association between rheumatoid arthritis and shared epitope of HLA-DRB1 gene in Han nationality Neimenggu population
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摘要 目的探讨内蒙古地区汉族人群类风湿关节炎(RA)与HLA-DRB1基因共同表位(SE)的关联性。方法采用特异性引物聚合酶链反应(PCR-SSP)方法对内蒙古地区汉族人群80例RA患者及110名正常健康者的HLA-DRB1*01、*04、*10的17个等位基因进行检测。结果内蒙古地区RA患者中携带有SE的基因频率显著高于正常对照组(48.8%:20%,P<0.01),HLA-DR4亚型*0405是主要的易感基因(28.8%:12%,P<0.01),其他亚型包括DRB1*0101(2.5%:0.9%),*0102(2.5%:0),*0103(1.25%:0.9%),*0104(2.5%:0%),*0401(6.25%:1.8%),*0402(3.75%:0.9%),*0403(1.25%:1.8%),*0404(2.5%:1.8%),*0406(2.5%:2.7%),*0407(1.25%:0.9%),*0408(3.75%:0.9%),*0409(1.25%:0),*0410(2.5%:0.9%),*0411(0:0)和*001(8.75%:4.5%)的差异均无统计学意义。Logistic回归分析表明:SE纯合子对RA的危害性要比杂合子大(P<0.01)。在RA患者中。SE纯合子和SE杂合子的病程、关节肿痛数、关节压痛数、血沉(ESR),C反应蛋白(CRP)、类风湿因子(RF)、X线(Ⅲ期+Ⅳ期)与SE阴性组比较,差异有统计学意义。SE纯合子与SE杂合子相比较,各观察指标差异均无统计学意义。结论SE与内蒙古地区汉族RA易感性及疾病严重性有关。 Objective To investigate the assoiation between rheumatoid arthritis (RA) and the presence of the shared epitope (SE) of HLA-DRB1 gene in Han nationality of Neimenggu population. Methods The method of DNA amplification with sequence-specific primers (PCR-SSP) was used to determine 17 alleles of HLA-DRBI*01, *04, *10 genotypes in 80 RA patients and 110 healthy controls from the Han nationality population in Neimenggu. Results The frequencies of SE were significantly increased in RA patiens compared with controls (48.8%:20%, P〈0.01). Epitope analysis revealed that the most predominant allele subtype of DR4 (*0405) was usceptible sequence in Neimenggu patients with RA (28.8%: 12%, P〈0.01). No statisticall significant difference of other subtypes of DR1, DR4 nd DR10 was noted including DRBI*0101 (2.5% :0.9%), *0102 (2.5%:0), *0103 (1.25% :0.9%), *0104 (2.5% :0), *0401 (6.25: 1.8%), *0402 (3.75% :0.9%), *0403 (1.25%: 1.8%), *0404 (2.5%: 1.8%), *0406 (2.5% :2.7%), *0407 (1.25% :0.9%), *0408 (3.75 % :0.9%), *0409 (1.25% : 0), *0410 (2.5% :0.9%), *0411 (0: 0) and * 1001 (8.75% : 4.5%) respectively. Logistic regression analysis showed that the disease of patients with SE homozgote was more severe than that of patients with heterozygote (P〈0.01). Conclusion The results suggest that there is an association between SE of HLA-DRB1 gene and susceptibility and severity of RA, especially, HLA-DR4 subtypes are strongly associated with RA in Han nationality in Neimenggu population.
出处 《中华风湿病学杂志》 CAS CSCD 2006年第11期668-671,共4页 Chinese Journal of Rheumatology
基金 包头市卫生基金资助项目(2004G2322-17)
关键词 关节炎 类风湿 遗传 HIJA—DRB1基因 共同表位 Arthritis, rheumatoid Heredity HLA-DRB 1 gene Shared epitope
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