Wang X, Ning Y, Tan W, Yu H, Li Z, Guo X
a School of Public Health , Xi'an Jiaotong University Health Science Centre, Key Laboratory of Trace Elements and Endemic Diseases, National Health and Family Planning Commission , Xi'an , Shaanxi , PR China.
b National Engineering Research Centre for Miniaturized Detection Systems , Northwest University , Xi'an , Shaanxi , PR China.
Scand J Rheumatol. 2016;45(3):230-5. doi: 10.3109/03009742.2015.1058416. Epub 2016 Jan 15.
To identify the differences and similarities of differentially expressed genes in peripheral blood mononuclear cells (PBMCs) between Kashin-Beck disease (KBD) grades I and II.
In total, 100 patients with KBD and 100 healthy controls were selected from a KBD endemic area and divided into 100 pairs of KBD vs. controls (50 pairs of patients with KBD grade I and healthy controls, 50 pairs of patients with KBD grade II and healthy controls). RNA was isolated from KBD PBMCs and healthy control PBMCs. Microarray analysis was conducted to identify differentially expressed genes in the different stages of KBD. The microarray data obtained were further confirmed using quantitative real-time polymerase chain reaction (qRT-PCR).
In total, eight differentially expressed genes in KBD grade I and 69 differentially expressed genes in KBD grade II were identified. Among these genes, six common genes were differentially expressed in both stages of the disease. The expression ratios of four common genes differed significantly between KBD grades I and II. Based on the expression ratios of the four genes, linear discriminant analysis (LDA) correctly classified the KBD grade (I or II) with 81% accuracy.
The similarities and differences of differentially expressed genes in PBMCs of patients with different stages of KBD may play an important role in the pathogenesis of the early phase of KBD. Additionally, six common genes may be considered blood-based genetic biomarkers for the detection and treatment of KBD.
鉴别大骨节病（KBD）Ⅰ级和Ⅱ级患者外周血单个核细胞（PBMCs）中差异表达基因的异同。
从大骨节病流行区选取100例大骨节病患者和100例健康对照，分为100对大骨节病患者与对照（50对KBDⅠ级患者与健康对照，50对KBDⅡ级患者与健康对照）。从大骨节病患者PBMCs和健康对照PBMCs中提取RNA。进行基因芯片分析以鉴定大骨节病不同阶段差异表达的基因。对获得的基因芯片数据进一步采用定量实时聚合酶链反应（qRT-PCR）进行验证。
共鉴定出KBDⅠ级中有8个差异表达基因，KBDⅡ级中有69个差异表达基因。其中，6个共同基因在疾病的两个阶段均差异表达。4个共同基因在KBDⅠ级和Ⅱ级之间的表达率差异显著。基于这4个基因的表达率，线性判别分析（LDA）对KBD等级（Ⅰ级或Ⅱ级）的正确分类准确率为81%。
大骨节病不同阶段患者PBMCs中差异表达基因的异同可能在大骨节病早期发病机制中起重要作用。此外，6个共同基因可被视为用于大骨节病检测和治疗的血液遗传生物标志物。
