前交叉韧带损伤与胶原蛋白基因COL1A1、COL5A1及COL12A1的相关性

发布时间：2018-02-07 11:59

  本文关键词： 前交叉韧带 胶原 多态性 限制性片段长度 组织工程 组织构建 中国汉族人群 前交叉韧带损伤 胶原蛋白基因 COLA COLA COLA 单核苷酸多态性 易感性　出处：《中国组织工程研究》2017年12期 　论文类型：期刊论文

【摘要】：背景:目前前交叉韧带损伤发生的病因尚不清楚,有学者认为内部因素和外部因素共同作用导致前交叉韧带的损伤,而作为内部危险因素之一的遗传因素逐渐受到人们的重视。有研究显示,胶原蛋白基因COL1A1,COL5A1和COL12A1与部分高加索人群前交叉韧带损伤相关。目的:探索COL1A1,COL5A1和COL12A1基因多态性与中国汉族人群前交叉韧带损伤发生的关系。方法:收集105名前交叉韧带损伤的汉族患者和110例无前交叉韧带损伤史的汉族个体作为对照,通过限制性片段长度多态性分析、测序技术对COL1A1基因内含子1区的rs1800012,COL5A1基因3’-UTR区的rs12722和rs13946,COL12A1基因外显子65和29区的rs970547和rs240736进行检测并分型。结果与结论:COL1A1和COL5A1基因的rs1800012,rs12722和rs13946基因型、基因表型及单倍型在前交叉韧带损伤病例和对照组中未见显著差异;COL12A1基因的rs970547和rs240736基因型、基因表型及单倍型在前交叉韧带损伤病例和对照组中未见显著差异。但在2组男性前交叉韧带患者中rs970547基因频率差异有显著性意义。说明在中国汉族人群,COL1A1基因Sp1结合位点rs1800012不是中国汉族人群前交叉韧带损伤发生的易感位点;COL5A1基因rs12722和rs13946与中国汉族人群前交叉韧带损伤发生的关联作用不大;COL12A1基因的rs970547和rs240736与中国男性前交叉韧带损伤有一定相关性,携带有COL12A1基因rs970547 A等位基因及AA基因型的男性个体可能增加前交叉韧带损伤的患病风险。
[Abstract]:Background: at present, the etiology of anterior cruciate ligament injury is not clear. Some scholars believe that internal and external factors together lead to anterior cruciate ligament injury. As one of the internal risk factors, genetic factors have been paid more and more attention. Collagen gene COL1A1COL5A1 and COL12A1 were associated with anterior cruciate ligament injury in some Caucasian population. Objective: to investigate the relationship between the polymorphism of COL1A1COL5A1 and COL12A1 gene and the occurrence of anterior cruciate ligament injury in Chinese Han population. Methods: 105 cases of anterior cruciate ligament injury were collected. The Han patients with ligamentous injury and 110 Han individuals with no history of anterior cruciate ligament injury were used as controls. Restriction fragment length polymorphism (RFLP) was used to detect and type rs12722 and rs240736 in rs1800012COL5A1 region of intron 1 of COL1A1 gene and exons 65 and 29 of rs13946COL12A1 gene. Results and conclusion the rs18000rs12722 and rs13946 genotypes of the two genes were analyzed. There was no significant difference in rs970547 and rs240736 genotypes of COL12A1 gene between patients with anterior cruciate ligament injury and control group. There was no significant difference in gene phenotype and haplotype between patients with anterior cruciate ligament injury and control group, but there was significant difference in the frequency of rs970547 gene between two groups of male patients with anterior cruciate ligament injury. Sp1 binding site rs1800012 is not a predisposing site for anterior cruciate ligament injury in Chinese Han population. The association between rs12722 and rs13946 of COL5A1 gene and the occurrence of anterior cruciate ligament injury in Chinese Han population is not significant. The rs970547 and rs240736 of COL12A1 gene are not related to Chinese male anterior cruciate ligament injury. Cruciate ligament injury has some correlation. Individuals with COL12A1 rs970547 A allele and AA genotype may increase the risk of anterior cruciate ligament injury.
【作者单位】： 昆明市第一人民医院运动医学关节外科;中国医学科学院医学生物学研究所;昆明医科大学第二附属医院骨科;
【基金】：云南省科技计划项目(昆医联合专项)(40210029)~~
【分类号】：R684

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