CAJ | 학술논문

目的筛选大骨节病(Kashin-Beck disease,KBD)和正常关节软骨的差异表达基因和基因通路,探讨KBD关节软骨损伤的分子机制.方法 KBD组和对照组关节软骨样本各9份,提取总RNA,反转录为cDNA.采用Cy3、Cy5分别对KBD组、对照组进行荧光标记.采用Agilent全基因组表达芯片,比较KBD组与对照组关节软骨的表达谱差异,利用单基因及基因通路表达分析,筛选有统计学意义的差异表达的基因和基因通路.结果 ①KBD组的关节软骨中29个基因的表达水平显著上调(平均表达率=6.68±1.98,P均＜0.05),功能涉及细胞凋亡、代谢、细胞外基质、细胞骨架与运动等.KBD患者关节软骨中的细胞外基质相关的FBLN1基因表达水平显著下调(表达率=0.14±0.06,P＜0.05).②KBD组关节软骨中6个凋亡和5个缺氧相关的基因通路的表达水平均高于对照组(P均＜ 0.05).结论细胞凋亡和缺氧相关的基因及基因通路在KBD患者与对照关节软骨中的表达水平存在差异,提示缺氧可能在KBD关节软骨细胞凋亡中发挥一定作用,缺氧与KBD关节软骨损伤的关系有待进一步研究.
목적 사선대골절병(Kashin-Beck disease,KBD)화정상관절연골적차이표체기인화기인통로,탐토KBD관절연골손상적분자궤제.방법 KBD조화대조조관절연골양본각9빈,제취총RNA,반전록위cDNA.채용Cy3、Cy5분별대KBD조、대조조진행형광표기.채용Agilent전기인조표체심편,비교KBD조여대조조관절연골적표체보차이,이용단기인급기인통로표체분석,사선유통계학의의적차이표체적기인화기인통로.결과 ①KBD조적관절연골중29개기인적표체수평현저상조(평균표체솔=6.68±1.98,P균＜0.05),공능섭급세포조망、대사、세포외기질、세포골가여운동등.KBD환자관절연골중적세포외기질상관적FBLN1기인표체수평현저하조(표체솔=0.14±0.06,P＜0.05).②KBD조관절연골중6개조망화5개결양상관적기인통로적표체수평균고우대조조(P균＜ 0.05).결론 세포조망화결양상관적기인급기인통로재KBD환자여대조관절연골중적표체수평존재차이,제시결양가능재KBD관절연골세포조망중발휘일정작용,결양여KBD관절연골손상적관계유대진일보연구.
Objective To identify differently expressed genes and pathways between Kashin-Beck disease (KBD) cartilage and healthy cartilage,and to explore the mechanism of articular cartilage lesions of KBD.Methods Cartilage specimens were collected from 9 patients with KBD and 9 healthy controls.Total RNA was extracted from cartilage specimens,and transcribed into cDNA.KBD and control groups were labeled by Cy3 and Cy5,respectively.Agilent genome-wide microarray was applied to compare the expression profile of KBD cartilage and healthy cartilage.The microarray data was analyzed by single gene and pathway expression analysis to identify differently expressed genes and pathways between KBD and healthy controls.Results ①Tweenty nine genes were significantly up-regulated in KBD group (averaged ratio =6.68 + 1.98,P ＜ 0.05),mainly involved in apoptosis,metabolism,extracellular matrix,cytoskeleton and cell movement.Additionally,extracellular matrix-related FBLN1 gene was down-regulated in KBD group(ratio =0.14 + 0.06,P ＜ 0.05).②Five apoptosis and 6 hypoxia-related pathways presented higher expression levels in KBD compared to healthy controls(all P＜ 0.05).Conclusions We find significant expression differences of apoptosis and hypoxia-related genes and pathways between KBD cartilages and healthy cartilages,suggesting that hypoxia might contribute to chondrocytes apoptosis of KBD.Further studies may be needed to investigate the relationship between hypoxia and articular cartilage lesions of KBD.