摘要
大骨节病(Kashin-Beck disease)是一种慢性骨软骨疾病,临床表现主要包括关节疼痛、活动障碍和多关节畸形。大骨节病关节软骨损伤的分子机制迄今不明,严重阻碍大骨节病的防治。近年来,随着高通量组学检测技术的快速发展,多个大骨节病的基因组学、表达组学和蛋白组学研究结果相继发表。研究发现大骨节病的患病风险受易感基因的影响,凋亡、缺氧、氧化应激相关的基因、基因通路和蛋白在大骨节病关节软骨中表达异常,为阐明大骨节病的分子发病机制提供了新的线索。本文总结了近期所获大骨节病多组学的研究进展。
Kashin-Beck disease（KBD）is a chronic osteochondropathy.Its major clinical manifestations include serious pain,activity limitations and deformities of multiple joints.The pathogenesis of KBD remains unclear now,which significantly hampers the control and prevention of KBD.With the rapid development of high-throughput omics detection technology,several genomics,transcriptomics and proteomics studies of KBD have been published,which observed significant impact of susceptibility genes on the risk of KBD.Apoptosis,hypoxia and oxidative stress related genes,pathways and proteins were abnormally expressed in KBD articular cartilage.These findings provide novel clues for clarifying the pathogenesis of KBD.This paper summarizes the latest multi-omics study progress of KBD.
出处
《国外医学（医学地理分册）》
CAS
2015年第4期248-251,共4页
Foreign Medical Sciences：Section of Medgeography
基金
国家自然科学基金项目(No.81102086)
