来源：风湿病与关节炎,2022,11（10）:11-14,31.

闽西地区HLA-B27基因分型检测在脊柱关节炎中的应用研究（临床研究）

李　曼，谢永欣，张洪彬，张满娥，巫永兰，曾宪林，卢志华

　　【摘　要】目的：调查闽西地区脊柱关节炎（SpA）患者与健康人群中人类白细胞抗原B27（HLA-B27）及基因亚型的分布情况，探讨不同亚型与疾病表型的关系。方法：采用聚合酶链式反应-序列特异性引物法（PCR-SSP）定性检测全血样本中人类白细胞抗原HLA-B*2704、HLA-B*2705等HLA-B27等位基因；采用SPSS 23.0软件分析数据。结果：①SpA患者及对照组中HLA-B27阳性率分别为76.89%和8%，2组比较，差异有统计学意义（P < 0.05）；②共检出5个HLA-B27基因亚型，分别为HLA-B*2702、HLA-B*2704、HLA-B*2705、HLA-B*2708、HLA-B*2710，以HLA-B*2704基因亚型最常见。③在SpA中，HLA-B27阳性患者的起病年龄、发病至确诊时间均明显小于HLA-B27阴性患者，且SpA家族史比例更高（P < 0.05）。④在SpA中，HLA-B*2705阳性组指（趾）炎、外周关节炎发生率显著高于HLA-B*2704阳性组（P < 0.05）。结论：①闽西地区汉族人群HLA-B27与SpA密切相关，以HLA-B*2704基因亚型为主，可作为本地区SpA诊断的重要依据。②在SpA患者中，HLA-B27阳性患者起病年龄更小，SpA家族史阳性率更高，在亚型分布上HLA-B*2705阳性组指（趾）炎、外周关节炎比例更高，为本地区SpA患者预测病情提供帮助。

　　【关键词】　强直性脊柱炎；脊柱关节炎；人类白细胞抗原B27；基因分型检测；闽西地区

Application of HLA-B27 Genotyping in the Diagnosis of Spinal Arthritis in Western Fujian

LI Man,XIE Yong-xin,ZHANG Hong-bin,ZHANG Man-e,WU Yong-lan,ZENG Xian-lin,LU Zhi-hua

　　【ABSTRACT】Objective:To investigate the distribution of HLA-B27 and its subtypes in patients with spinal arthritis（SpA）and healthy people in Western Fujian,and to explore the relationship between different subtypes and disease phenotype.Methods:HLA-B27 alleles such as human leukocyte antigen HLA-B*2704 and HLA-B*2705 in whole blood samples were qualitatively detected by PCR-SSP.Software SPSS 23.0 was used to analyze the data.Results:①The positive rates of HLA-B27 in the SpA patients and the control group were 76.89% and 8% respectively.The difference between the two groups was statistically significant（P < 0.05）;②Five HLA-B27 gene subtypes were detected,including HLA-B*2702,HLA-B*2704,HLA-B*2705,HLA-B*2708,and HLA-B*2710,with HLA-B*2704 gene subtype being the most common.③In SpA patients,the age of onset and the time from onset to diagnosis of the HLA-B27 positive ones were significantly lower than those of the HLA-B27 negative ones,and the proportion of family history of SpA was higher（P < 0.05）.④In SpA patients,the incidence of finger（toe）inflammation and peripheral arthritis in the HLA-B*2705 positive group was significantly higher than that in the HLA-B*2704 positive group（P < 0.05）.Conclusion:①HLA-B27 is closely related to SpA in the Han population in this region,mainly HLA-B*2704 genotype,which can be used as an important basis for the diagnosis of SpA in this region.②Among SpA patients,HLA-B27 positive patients were younger at onset,had a higher positive rate of family history of SpA,and had a higher proportion of finger（toe）inflammation and peripheral arthritis in the subtype distribution of HLA-B*2705 positive group,which provided help for the prediction of SpA patients' condition in this region.

　　【Keywords】 ankylosing spondylitis;spinal arthritis;Human leukocyte antigen B27;genotyping;Western Fujian