To explore the susceptibility to rheumatoid arthritis (RA) in Hah nationality in middledownstream area of Huai He with HLA-DQβ1 alleles, and analyze the correlation between the HLA-DQβ1 and clinical manifestations, laboratory examination, X-ray imaging of hands. Methods The nine genotypes of HLA-DQβ1 to 103 RA patients and 102 healthy controls were examined by polymerase chain reaction with sequence specific primers (PCR-SSP); Anti-cyclic cirtrullinated peptide (CCP) of patients were detected by ELISA. Results The frequency of HLA-DQβ1*0401 and *0501 were 12.5％ and 7.5％ in RA patients, while that in healthy controls were 3.5％ and 1.5％ respectively (P ＜ 0.05); The frequency of HLA-DQβ1*0301 and *0303 were high in both groups without any significant statistic difference; There was no significant statistic difference between clinical manifestations laboratory examination, which included anti-CCP and X-ray imaging of hands, in the patients with HLA-DQβ1*0401 and *0501 and those in negative the patients. Conclusion HLA-DQβ1 alleles are likely associated with susceptibility to RA in Hah nationality in middle-downstream area of Huai He, but not associated with clinical manifestations,laboratory examinations and joints damage.%目的 观察HLA-DQβ1等位基因与淮河中下游地区汉族人类风湿关节炎(RA)的易感性,并分析其与临床表现、实验室检查及双手X线检查结果的相关性.方法 采用序列特异性引物聚合酶链反应技术(PCR-SSP)对103例RA和102例健康对照的HLA-DQβ1的9种基因亚型(0501、0501、0601、0602、0201、0301、0303、0401、0402)进行检测;酶联免疫吸附试验(ELISA)检测患者血清抗环瓜氨酸肽抗体(抗CCP)水平,并分析患者临床表现、实验室指标、双手X线检查与基因亚型之间的关系.结果 HLA-DQβ1*0401、*0501亚型在RA患者出现的频率分别为12.5%和7.5%,而健康对照组为3.5%和1.5%,差异有显著统计学意义,P＜0.05;RA患者组及对照组均以HLA-DQβ1*0301、*0303阳性率为高,但组间比较差异无显著统计学意义;携带HLA-DQβ1*0401亚型、*0501亚型的患者与不携带HLA-DQβ1*0401亚型、*0501亚型的RA患者,其临床表现、实验室检查包括抗CCP及手X线检查,差异均无显著统计学意义.结论 HLA-DQβ1*0401、*0501基因亚型可能与淮河中下游地区汉族人RA的易感性有关,而与RA的临床、实验室指标及关节受累的严重程度无相关性.
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