强直性脊柱炎患者HLA-B27基因分型及临床特征分析  

Analysis of HLA-B27 genotype and clinical characteristics in patients with ankylosing spondylitis

作　　者：刘倩[1,2] 马亮[2] 岳德波[3] 刘辉[1,2] 姜永玮 徐英春[1] LIU Qian;MA Liang;YUE De-bo

机构地区：[1]中国医学科学院北京协和医学院北京协和医院检验科,北京100730 [2]中日友好医院检验科,北京100029 [3]中日友好医院骨科,北京100029

出　　处：《中日友好医院学报》2020年第5期271-273,278,共4页Journal of China-Japan Friendship Hospital

摘　　要：目的:探讨强直性脊柱炎(AS)患者基本特征以及人类白细胞抗原B27(HLA-B27)基因分型检测的临床意义。方法:收集中日友好医院2018年1月~2019年12月间确诊的AS患者资料,对其外周血样本进行核酸提取,荧光定量PCR染料法检测HLA-B27基因及分型。结果:287例AS患者中HLA-B27基因阳性占82.9%;AS家族史患者占16.0%(一级亲属占14.3%,二级亲属占1.7%);伴发葡萄膜炎10.1%。238例HLA-B27基因阳性AS患者中HLA-B2704亚型占55.0%,HLA-B2705亚型42.4%,HLA-B2702亚型0.8%;HLA-B2704*HLA-B2705复合杂合子1.3%,HLA-B2705*HLA-B2708复合杂合子0.4%。男性AS患者就诊年龄、发病年龄显著早于女性AS患者(P<0.05;P<0.01)。HLA-B27基因阳性AS患者发病年龄显著早于HLA-B27基因阴性AS患者(P<0.05)。HLA-B2705亚型AS患者伴发葡萄膜炎比例显著高于HLA-B2704亚型AS患者(P<0.05)。结论:男性、HLA-B27基因阳性AS患者发病年龄较早,HLA-B2705亚型AS患者更易伴发葡萄膜炎。Objective:To investigate the basic characteristics of patients with ankylosing spondylitis(AS)and the clinical significance of human leukocyte antigen B27(HLA-B27)genotyping.Methods:The relevant data of patients with AS from Jan.2018 to Dec.2019 in China-Japan Friendship Hospital were collected.Nucleic acid extraction was performed on their peripheral blood samples,and the HLA-B27 gene and typing were detected by fluorescent quantitative PCR dye method.Results:Among the 287 AS patients,238 cases(82.9%)were positive for HLA-B27 gene;46 patients(16.0%)with family history of AS,including 41(14.3%)first-degree relatives and 5(1.7%)second-degree relatives;29 cases(10.1%)with uveitis.Among the HLA-B27 gene-positive AS patients,55.0%of the genes were HLA-B2704 subtypes,42.4%were HLA-B2705 subtypes,0.8%were HLA-B2702 subtypes,1.3%were HLA-B2705 composite heterozygotes,and 0.4%were HLA-B2705*HLA-B2708 composite heterozygotes.The age of onset and the time of diagnosis of male AS patients were significantly earlier than those of female AS patients(P<0.05;P<0.01).The age of onset of HLA-B27 gene-positive AS patients was significantly earlier than that of HLA-B27 gene-negative AS patients(P<0.05).The proportion of patients with HLA-B2705 subtype AS with uveitis was significantly higher than that of patients with HLAB2704 subtype AS(P<0.05).Conclusion:Male and HLA-B27 gene-positive AS patients have an earlier age of onset.HLA-B2705 subtype AS patients are more likely to be associated with uveitis.

关 键 词：强直性脊柱炎 人类白细胞抗原B27 基因亚型 葡萄膜炎 

分 类 号：R446.9[医药卫生—诊断学]