大骨节病和骨性关节炎的基因表达差异

2010年3月，西安交通大学医学院博士生段琛，在导师郭雄教授的指导下，与芬兰Kuopio大学Mikko Lammi教授合作，在世界*杂志 Arthritis & Rheumatism发表了封面文章。近日又被机构“Faculty of 1000 Medicine”特别认可为“F1000论文”。

该研究在以往研究的基础上，从基因水平阐述了大骨节病和骨性关节炎的表达差异，筛选出大骨节病特征性基因，为其诊断和治疗提供了理论依据和新思路，并为进一步研究骨性关节炎的发病机制提供了参考，具有实际的科学价值。

郭雄教授带领的“大骨节病病因发病机制与防治研究科研创新团队”受到多项国家自然科学基金、卫生部和陕西省科研资金支持，近年在zui有影响力期刊Osteoarthritis and cartilage、The Journal of rheumatology等发表博士研究生论文。扩大了我校在该领域的影响；并积极将研究成果应用到临床防治中。

Arthritis & Rheumatism杂志在风湿病和关节炎领域5年平均影响因子为7.423，位居*。该文章研究成果被美国专家Amanda E Nelson和 Joanne Jordan点评，并推荐为“F1000论文”。“F1000（Faculty of 1000 Medicine）”又名“千名医学家”，是由美国哈佛大学和英国剑桥大学等*2500 名*医学教授组成的机构。该机构专家根据论文对当前世界生物医学和临床实践的贡献程度和科学价值，每年对SCI文章总数不足千分之二的精品医学论文进行推荐和点评，并赋予“F1000论文”称号向医学界推荐，涵盖了医学各个学科，是一项很高的学术荣誉。

推荐原文出处：

Arthritis & Rheumatism DOI：10.1002/art.27282

Comparative analysis of gene expression profiles between primary knee osteoarthritis and an osteoarthritis endemic to Northwestern China, Kashin-Beck disease
Chen Duan 1, Xiong Guo 1 *, Xiao-Dong Zhang 2, Han-Jie Yu 3, Hua Yan 4, Ying Gao 4, Wei-Juan Ma 1, Zong-Qiang Gao 4, Peng Xu 5, Mikko Lammi 6

1Medical College of Xi'an Jiaotong University, Xi'an, Shaanxi, China
2First Affiliated Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China
3Northwest University, Xi'an, Shaanxi, China
4Second Affiliated Hospital, Xi'an Jiaotong University, Xi'an, Shaanxi, China
5Xi'an Red Cross Hospital, Xi'an, Shaanxi, China
6University of Kuopio, Kuopio, Finland

Objective
To investigate the differences in gene expression profiles of adult articular cartilage from patients with Kashin-Beck disease （KBD） versus those with primary knee osteoarthritis （OA）.

Methods
The messenger RNA expression profiles of articular cartilage from patients with KBD, diagnosed according to the clinical criteria for KBD in China, were compared with those of cartilage from patients with OA, diagnosed according to the Western Ontario and McMaster Universities OA Index. Total RNA was isolated separay from 4 pairs of the KBD and OA cartilage samples, and the expression profiles were evaluated by Agilent 4×44k Whole Human Genome density oligonucleotide microarray analysis. The microarray data for selected transcripts were confirmed by quantitative real-time reverse transcription-polymerase chain reaction （RT-PCR） amplification.

Results
For 1.2 × 104 transcripts, corresponding to 58.4% of the expressed transcripts, 2-fold changes in differential expression were revealed. Expression levels higher in KBD than in OA samples were observed in a mean ± SD 6,439 ± 1,041 （14.6 ± 2.4%） of the transcripts, and expression levels were lower in KBD than in OA samples in 6,147 ± 1,222 （14.2 ± 2.8%） of the transcripts. After application of the selection criteria, 1.85% of the differentially expressed genes （P < 0.001 between groups） were detected. These included 233 genes, of which 195 （0.4%） were expressed at higher levels and 38 （0.08%） were expressed at lower levels in KBD than in OA cartilage. Comparisons of the quantitative RT-PCR data supported the validity of our microarray data.

Conclusion
Differences between KBD and OA cartilage exhibited a similar pattern among all 4 of the pairs examined, indicating the presence of disease mechanisms, mainly chondrocyte matrix metabolism, cartilage degeneration, and apoptosis induction pathways, which contribute to cartilage destruction in KBD.