Association of COL1A1, COL5A1 and COL12A1 genes with anterior cruciate ligament injury

doi:10.3969/j.issn.2095-4344.2017.12.008

Abstract

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.

中国组织工程研究杂志出版内容重点：组织构建；骨细胞；软骨细胞；细胞培养；成纤维细胞；血管内皮细胞；骨质疏松；组织工程

Key words: Anterior Cruciate Ligament, Collagen, Polymorphism, Restriction Fragment Length, Tissue Engineering

CLC Number:

R318

Chen Hong1, Shi Li2, Zhang Jun3, Zhao Dao-hong3, Shi Lei2, Lu Qin-nan1, Zhang Qi1, Duan Qi-hui1, Shu Song-hua1 . Association of COL1A1, COL5A1 and COL12A1 genes with anterior cruciate ligament injury[J]. Chinese Journal of Tissue Engineering Research, 2017, 21(12): 1849-1854.

Figures/Tables 3

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