HLA-B27基因表达量及亚型分析在AS疾病评估中的意义

目的 探讨人类白细胞抗原(human leukocyto antigens,HLA)B27(HLA-B27)基因表达量及其亚型在强直性脊柱炎疾病诊疗中的意义。方法收集120例疑似强直性脊柱炎患者和50例健康体检者的临床资料,对所收集患者的全血采用实时荧光定量聚合酶链反应检测HLA-B27基因相对表达量,在此基础上通过基因测序确认HLA-B27基因亚型。采用SPSS17.0软件对数据进行分析,P<0.05被认为差异有统计学意义。结果 120例疑似强直性脊柱炎患者中,确诊55例,其中HLA-B27阳性53例(96.36%),BASDAI评分与HLA-B27基因表达量具有相关性(r=0.845,P=0.000)。基因亚型分别为HLA-B27:04型29例(54.72%),HLA-B27:05型20例(37.74%),HLA-B27:02型2例(3.77%),HLA-B27:03型1例(1.89%),HLA-B27:07型1例(1.89%)。50例健康对照组中筛查HLA-B27阳性2例(4%),均为B27:04亚型。对HLA-B27:04和HLA-B27:05两种亚型患者年龄(t=0.711,P=0.480)、性别(χ²=0.880,P=0.348)、家族史(χ²=0.011,P=0.916)和治疗史(χ²=0.113,P=0.736)比较差异无统计学意义。结论 HLA-B27阳性AS患者以HLA-B27:04和HLA-B27:05为主。HLA-B27基因表达量与其疾病活动指数相关。

Significance of the Expression Quantity of HLA-B27 Gene and Its Subtype in Estimating Patients with Ankylosing Spondylitis

Objective To investigate whether expression quantity of HLA-B27 and its subtypes associated with incidence of AS,the gene expression of HLA-B27 and its subtypes were detected in patients with AS.Methods 120 cases patients suspected with AS and 50 healthy subjects were enrolled in the study.Main demographic and clinical characteristics ofthe subjects were collected.Meanwhile total RNA was isolated from peripheral blood and real time RT-PCR was used to measure the quantitative expression of HLA-B27 gene.Besides RT-PCR,sequence-based typing(SBT)method was used to confirm the HLA-B27 subtype.All experimental data were analyzed by SPSS17.0 software and P values <0.05 were considered to be significant.Results Firstly,there were 55 subjects were finally diagnosed as AS patients among the 120 patients suspected with AS.There were 53 subjects whose HLA-B27 was positive(96.36%)in 55 patients with AS.It showed that there was acorrelation between BASDAI and expression quantity of HLA-B27 gene(r=0.845,P=0.000).Five subtypes were found and which were HLA-B27:04 subtype(29/53,54.72%),HLA-B27:05 subtype(20/53,37.74%),HLA-B27:02 subtype(2/53,3.77%),HLA-B27:03 subtype(1/53,1.89%)and HLA-B27:07 subtype(1/53,1.89%),respectively.Among the 50 healthy subjects,there were only one kind of subtype(2/50,4%),which was HLA-B27:04.There were no statistical difference in the age(t=0.711,P=0.480),sex(χ²=0.880,P=0.348),family history(χ²=0.011,P=0.916)and treatment(χ²=0.113,P=0.736)between the HLA-B27:04 and HLA-B27:05 subtypes.ConclusionHLA-B27:04 and HLA-B27:05 were primary subtypes in AS patients which HLA-B27 positive.There was a correlation between gene expression quantityof HLA-B27 and AS disease activity index.