Context: A variety of factors have been linked to the occurrence of anterior cruciate ligament injury (ACLI), including sex, familial factors, and genetic variations.
Objective: To find the genetic loci associated with ACLI and explore the genetic mechanism of ACLI in order to provide a genetic basis for the diagnosis, prognosis, and treatment of patients with ACLI.
Design: Cross-sectional study.
Setting: Hospital.
Patients or other participants: Data from 101 Chinese Yunnan Han patients with ACLI and 110 Yunnan Han individuals without ACLI (control group) were collected.
Main outcome measure(s): The single nucleotide polymorphisms of COL1A1 rs1800012, COL5A1 rs12722 and rs13946, COL12A1 rs970547 and rs240736 and the rs1800787, rs1800788, rs1800789, rs1800790, rs1800791, and rs2227389 in the β-fibrinogen (β-fib) promoter region were analyzed using restriction fragment length polymorphism and DNA sequencing detection, and their genetic associations with ACLI were assessed.
Results: Single nucleotide polymorphisms of COL1A1 rs1800012, COL5A1 rs12722 and rs13946, and the rs1800789 and rs1800791 in the β-fib promoter region showed no difference between patients with ACLI and control participants, but the changes of COL12A1 rs970547 and rs240736 and the rs1800787, rs1800788, rs1800790, and rs2227389 genotypes in the β-fib promoter region were associated with ACLI. Furthermore, the rs970547 allele and genotype frequencies in male ACLI patients were different from the control group (P < .05): the frequencies of the rs970547 A and G alleles in the patients were 71.9% and 28.1%, respectively, and in the control group were 58.8% and 41.2%, respectively. The frequencies of AA, AG, and GG genotypes in the patients were 49.3%, 45.2%, and 5.5%, respectively, and in the control group were 27.5%, 62.7%, and 9.8%, respectively, suggesting that male carriers of rs970547 A and rs970547 AA were at high risk of ACLI.
Conclusions: Males with the rs970547 A allele and rs970547 AA genotype of COL12A1 may be at high risk for ACLI. Low rs1800787 TT and high rs1800788 CT, rs1800790 AG, and rs2227389 CT frequencies as well as high TGA* of rs1800790, rs1800791, and rs2227389 in the β-fib promoter region may be genetic risk factors related to ACLI.
Keywords: knee injury; polymorphisms; β-fib promoter.