Qinghai Institute For Endemic Disease Prevention and Control, Qinghai, 811602, China.
Sci Rep. 2018 Jan 9;8(1):170. doi: 10.1038/s41598-017-18519-z.
To explore the pathologies of Kashin-Beck disease (KBD) and KBD accompanied with dental fluorosis (DF), we conducted a comparative analysis of gene expression profiles. 12 subjects were recruited, including 4 KBD patients, 4 patients with KBD and DF and 4 healthy subjects. Genome-wide expression profiles from their peripheral blood mononuclear cells were evaluated by customized oligonucleotide microarray. R programming software was used for the microarray data analysis followed by functional enrichment analysis through KOBAS. Several potential biomarkers were identified, and quantitative real-time reverse transcription-polymerase chain reaction (qRT-PCR) was used for their validation. In this study, 28 genes and 8 genes were found to be up- and down-regulated respectively in KBD patients compared with health subjects. In patients with KBD and DF, we obtained 10 up-regulated and 3 down-regulated genes compared with health controls. Strikingly, no differential expression gene (DEG) was identified between the two groups of patients. A total of 10 overlaps (DUSP2, KLRF1, SRP19, KLRC3, CD69, SIK1, ITGA4, ID3, HSPA1A, GPR18) were obtained between DEGs of patients with KBD and patients with KBD and DF. They play important roles in metabolism, differentiation, apoptosis and bone-development. The relative abundance of 8 DEGs, i.e. FCRL6, KLRC3, CXCR4, CD93, CLK1, GPR18, SRP19 and KLRF1, were further confirmed by qRT-PCR analysis.
为了探索大骨节病（KBD）和 KBD 伴氟骨症（DF）的病理学机制，我们对基因表达谱进行了比较分析。共招募了 12 名受试者，包括 4 名 KBD 患者、4 名 KBD 和 DF 患者和 4 名健康受试者。使用定制的寡核苷酸微阵列评估了他们外周血单个核细胞的全基因组表达谱。使用 R 编程软件对微阵列数据进行分析，然后通过 KOBAS 进行功能富集分析。鉴定了一些潜在的生物标志物，并通过定量实时逆转录-聚合酶链反应（qRT-PCR）进行验证。在这项研究中，与健康受试者相比，KBD 患者中有 28 个基因上调和 8 个基因下调。在 KBD 和 DF 患者中，与健康对照组相比，我们获得了 10 个上调和 3 个下调基因。值得注意的是，两组患者之间没有差异表达基因（DEG）。在 KBD 患者和 KBD 和 DF 患者的 DEG 之间共获得了 10 个重叠基因（DUSP2、KLRF1、SRP19、KLRC3、CD69、SIK1、ITGA4、ID3、HSPA1A、GPR18）。它们在代谢、分化、凋亡和骨骼发育中发挥重要作用。FCRL6、KLRC3、CXCR4、CD93、CLK1、GPR18、SRP19 和 KLRF1 等 8 个 DEG 的相对丰度通过 qRT-PCR 分析进一步得到证实。
