中文摘要：

目的选择5个干扰素诱导基因人黏液病毒抗性蛋白1（MXl）；2′，5′－寡腺苷酸样合成酶（OASL）；2′，5′-寡腺苷酸合成酶1（OAS1）；α－干扰素诱导蛋白15（ISG15）、淋巴细胞抗原6复合体E（LY6E）作为系统性红斑狼疮（SLE）候选基因进行表达研究并探讨干扰素诱导基因在SLE中的表达情况以及对SLE诊断的临床价值。方法收集68例SLE患者、50例其他自身免疫性疾病患者和26名健康者外周血细胞，提取RNA，以实时荧光定量聚合酶链反应（PCR）技术进行检测，观察各组间基因表达量的差异及各组间干扰素（IFN）指数的差异；应用受试者工作曲线（ROC）分析软件评价干扰素诱导基因在SLE诊断中的价值，Spearman相关分析法分析干扰素指数与SLE疾病活动度指标[SLEDAI积分和尿蛋白定量（24h）]的相关性。采用t检验和秩和检验进行统计学分析。结果①SLE患者外周血细胞MX1、OASL、OAS1、ISG15、LY6E基因的表达水平均显著高于疾病对照组和健康对照组，差异有统计学意义（P值均〈0．01）。②SLE患者干扰素指数（17．9±29．1）显著高于疾病对照组（3．0±8．1）和健康对照组（0±3．3），差异有统计学意义（P直均〈O．01）。③在SLE诊断中，干扰素指数ROC曲线下的面积（AUCROC）为0．846，当干扰素指数取2．56时，对SLE患者诊断的敏感性为82．4％，特异性为76．3％。④SLE患者干扰素指数水平与SLEDAI积分（r=0．256，P〈0．01）和尿蛋白定量（24h）水平（r：0．337，P〈0．01）呈显著正相关。⑤合并肾脏损害的SLE患者、抗Sm与抗dsDNA抗体阳性SLE患者干扰素指数显著升高，差异有统计学意义（P值均〈0．05）。结论干扰素诱导基因MX1、OASL、OAS1、ISG15和LY6E在SLE患者中呈高表达，干扰素指数的升高对于SLE的诊断及疾病活动性判断具有参考价值。

英文摘要：

Objective To study the role of the expression levels of 5 type I interferon （IFN）-induci- ble genes （LY6E, OAS1, OASL, MX1, and ISG15） in the diagnosis and disease activity evaluation of systemic lupus erythematosus （SLE）. Methods Peripheral blood was obtained from 68 SLE patients, 50 patients with other connective tissue diseases and 26 normal controls, and total RNA was extracted and reverse transcribed into complementary DNA. Real-time PCR technique was used to determine gene expressions at transcription level. An IFN score for each individual was calculated according to the expression of 5 iFN genes. Compari- sons of gene expression and IFN score were made among groups. The genes expression levels in patients with SLE were analyzed using receiver operative characteristic curve. The association between IFN scores and disease activity, as assessed by the SLEDAI scores and 24 h proteinuria, was analyzed using Spearman correlation analyses. Results ① The expression levels of MX1, OASL, OAS1, ISG15 and LY6E mRNA in SLE patients were significantly increased as compared with normal controls and disease controls （P all〈0.01 ）.② IFN scores in SLE patients （17.9±29.1） were significantly increased as compared with normal controls （0± 3.3）and disease controls （3.0±8.1） （P all〈0.01 ）. ③ IFN scores area under the ROC cyrve （AUCROC） was 0.846. When Tile IFN scores reached 2.56, its sensitivity and specificity for the diagnosis of SLE were 93.1% and 78.3%, respectively. ④ Levels of IFN score was positively correlated with SLEDAI scores （r=0.256,P〈 0.05） and 24 h proteinuria （r=0.337, P〈0.05）. Conclusion The 5 IFN-indueibIe genes are highly expressed in SLE patients. IFN score level is valuable for the diagnosis of SLE and a high IFN score is usually associated with an elevated disease activity.