中国组织工程研究2017，Vol.21Issue(12)：1849-1854,6.DOI:10.3969/j.issn.2095-4344.2017.12.008
前交叉韧带损伤与胶原蛋白基因COL1A1、COL5A1及COL12A1的相关性
Association of COL1A1, COL5A1 and COL12A1 genes with anterior cruciate ligament injury
摘要
Abstract
BACKGROUND:The etiology of anterior cruciate ligament injury remains unclear yet, and some researchers have pointed that interior and exterior factors both contribute to anterior cruciate ligament injury;additionally, the genetic factor interior factors stand out. Collagen genes COL1A1, COL5A1, and COL12A1 are reported to be associated with anterior cruciate ligament injury in Caucasian populations. OBJECTIVE:To investigate the association of polymorphisms of COL1A1, COL5A1 and COL12A1 genes with anterior cruciate ligament injury in Chinese Han population . METHODS:105 patients with anterior cruciate ligament injury were enrolled and 110 patients without history of anterior cruciate ligament injury were as controlls. The first intron rs1800012 in COL1A1, rs127722 and rs13946 in the 3'-UTR region of COL5A1 gene, rs970547 and rs240736 in the 65 and 29 regions of COL12A1 extron were detected and classified by restriction fragment length polymorphism and genetic sequencing technology. RESULTS AND CONCLUSION:rs1800012, rs12722 and rs13946 genotypes, phenotypes and haplotypes in COL1A1 and COL5A1 genes showed no significant differences between groups. rs970547 and rs240736 genotypes as well as phenotypes and haplotypes in COL12A1 also showed no significant differences between groups. However, there was a significant difference in rs970547 gene frequence in male patients between groups. In conclusion, the Sp1 binding site of COL1A1 rs1800012 is not the susceptibility locus of anterior cruciate ligament injury in Chinese Han population. COL5A1 genes rs12722 and rs13946 in COL5A1 are not closely related to anterior cruciate ligament injury. COL12A1 rs970547 and rs240736 have a certain association with anterior cruciate ligament injury in Chinese men. Male individuals with COL12A1 rs970547 A allelic gene and AA genotype are likely to be susceptible to anterior cruciate ligament injury in Chinese Han population.关键词
组织构建/组织工程/中国汉族人群/前交叉韧带损伤/胶原蛋白基因/COL1A1/COL5A1/COL12A1/单核苷酸多态性/易感性分类
医药卫生引用本文复制引用
陈鸿,史荔,张俊,赵道洪,史磊,陆秦楠,张启,段祺辉,舒嵩华..前交叉韧带损伤与胶原蛋白基因COL1A1、COL5A1及COL12A1的相关性[J].中国组织工程研究,2017,21(12):1849-1854,6.基金项目
云南省科技计划项目(昆医联合专项)(40210029)the Scientific and Technological Program of Yunnan Province (Joint Program of Kunming Medical University), No. 40210029 （昆医联合专项）
