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- 2018
COL9A1基因多态性与大骨节病膝关节软骨中COL9A1表达的关系
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Abstract:
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。
ABSTRACT: 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 Grade Ⅱ cartilage was significantly higher than that of Grade Ⅳ (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
| [1] | MUSTAFA Z, CHAPMAN K, IRVEN C, et al. Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis[J]. Rheumatology (Oxford), 2000, 39(3):299-306. |
| [2] | LOHINIVA J, PAASSILTA P, SEPP？FNEN U, et al. Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia[J]. Am J Med Genet, 2000, 90(3):216-222. |
| [3] | 王正东，王鑫宇，颜南，等. 单纯性马蹄内翻足模型鼠足踝部组织中Col9a1基因表达的研究[J]. 沈阳医学院学报, 2016, 18(6):426-429. |
| [4] | SHI X, ZHANG F, LV A, et al. COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population[J]. PLoS, 2015, 16;10(3):e0120365. |
| [5] | 史晓薇，郭雄. COL9A1基因多态性与儿童大骨节病的关联分析[J]. 中国妇幼健康研究, 2016, 27(5):556-557. |
| [6] | SCHEPMAN K, ENGELBERT RH, VISSER MM, et al. Kashin Beck disease: More than just osteoarthrosis: A cross-sectional study regarding the influence of body function-structures and activities on level of participation[J]. |
| [7] | Int Orthop, 2011, 35(5):767-776. |
| [8] | 郭雄. 大骨节病病因与发病机制的研究进展及其展望[J]. 西安交通大学学报(医学版), 2008, 29(5):281-288. |
| [9] | SHI XW, GUO X, LV AL, et al. Heritability estimates and linkage analysis of 23 short tandem repeat loci on chromosomes 2,11, and 12 in an endemic osteochondropathy in China[J]. Scand J Rheumatol, 2010, 39:259-265. |
| [10] | SUETE C, MORENO R, CHASSEAR C, et al. Epidemiological support for a multifactorial aetiology of Kashin-Beck disease in Tibet[J]. Intern Orthop (SICOT), 2001, 25:180-187. |
| [11] | MENDLER M, EICH-BENDER SG, VAUGHAN L, et al. Cartilage contains mixed fibrils of collagen types II, IX, and XI[J]. J Cell Biol, 1989, 108(1):191-197. |
| [12] | CZARNY-RATAJCZAK M, LOHINIVA J, ROGALA P, et al. A mutation in COL9A1 causes multiple epiphyseal dysplasia: Further evidence for locus heterogeneity[J]. Am J Hum Genet, 2001, 69:969-980. |
| [13] | CAO J, LI S, SHI Z, et al. Articular cartilage metabolism in patients with Kashin-Beck Disease: An endemic osteoarthropathy in China[J]. Osteoarthr Cartilage, 2008, 16(6):680-688. |
| [14] | PARSONS P, GILBERT SJ, VAUGHAN-THOMAS A, et al. Type IX collagen interacts with fibronectin providing an important molecular bridge in articular cartilage[J]. J Biol Chem, 2011, 286(40):34986-34997. |
