COL9A1基因多态性与大骨节病膝关节软骨中COL9A1表达的关系  

Relationship between COL9A1 gene polymorphism and COL9A1 expression in the articular cartilage of Kashin-Beck disease

作　　者：孙正明[1] 董向辉[1] 常彦海[1] 吴学元[1] 靳占奎[1] 易智[1] 凌鸣[1] 郭雄[2] SUN Zheng-ming;DONG Xiang-hui;CHANG Yan-hai;WU Xue-yuan;JIN Zhan-kui;YI Zhi;LING Ming;GUO Xiong(Department of Orthopedics,Shaanxi Provincial People s Hospital,Xi an 710068;Xi an Jiaotong University Health Science Center,Xi an 710061,China)

机构地区：[1]陕西省人民医院骨科,陕西西安710068 [2]西安交通大学医学部,陕西西安710061

出　　处：《西安交通大学学报（医学版）》2018年第6期845-847,共3页Journal of Xi’an Jiaotong University（Medical Sciences）

基　　金：陕西省技术转移与重点科技成果推广计划项目(No.2015CG004);陕西省重点研发计划项目(No.2017KW-051)~~

摘　　要：目的探讨COL9A1基因多态性(rs6910140)与大骨节病(KBD)患者膝关节软骨COL9A1表达之间的关系。方法获取65例KBD患者的外周静脉血及膝关节软骨;提取静脉血全基因组DNA,采用基质辅助激光解吸电离飞行时间质谱对全部DNA标本进行了基因多态性(rs6910140)分析;SP法组化染色检测软骨COL9A1的表达。结果与TT基因型携带者相比,CC基因型携带者软骨COL9A1的表达积分差异有统计学意义(P<0.005);结合X线分级结果分析显示,总的样本和TT基因型携带者患者软骨中COL9A1的表达水平与KBD膝关节炎的严重程度相关。结论 COL9A1基因多态性(rs6910140)与KBD患者膝关节软骨COL9A1表达存在相关性,且COL9A1表达与KBD的严重程度相关。Objective To study the relationship between COL9A1 gene polymorphism and COL9A1 expression in the knee cartilage of Kashin-Beck disease(KBD).Methods Articular cartilage of the knee and venous blood of 65 patients with knee arthritis of KBD were collected.The whole genome DNA was extracted from the venous blood,and genotypes were identified by matrix-assisted laser desorption ionization time-of-flight mass spectrometry.S-P staining was used to evaluate the expression of COL9A1 in the cartilage.Results Compared to those with the TT genotype,subjects with the CC genotype were found to have a significantly higher score of articular cartilage of the knee(P<0.05).X-ray stratification study indicated that with the aggravation of the lesion,the expression of COL9A1 in the cartilage weakened,and the expression of COL9A1 in GradeⅡcartilage was significantly higher than that of GradeⅣ(P<0.05).Conclusion There is a correlation between rs6910140 in COL9A1 gene and the expression of COL9A1 in the articular cartilage of the knee in patients with KBD.The expression of COL9A1 is associated with the severity of KBD.

关 键 词：大骨节病 关节软骨 Ⅸ型胶原A1 单核苷酸多态性 

分 类 号：R72[医药卫生—儿科]