Orthopaedic Department, The Second Affiliated Hospital of Kun Ming Medical University, Yunnan Province, China.
Sports Medicine and Joint Surgery, First People's Hospital of Kunming, Yunnan Province, China.
J Athl Train. 2020 May;55(5):515-521. doi: 10.4085/1062-6050-335-18. Epub 2020 Apr 2.
A variety of factors have been linked to the occurrence of anterior cruciate ligament injury (ACLI), including sex, familial factors, and genetic variations.
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.
Cross-sectional study.
Hospital.
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 rs1800012, rs12722 and rs13946, rs970547 and rs240736 and the rs1800787, rs1800788, rs1800789, rs1800790, rs1800791, and rs2227389 in the () promoter region were analyzed using restriction fragment length polymorphism and DNA sequencing detection, and their genetic associations with ACLI were assessed.
Single nucleotide polymorphisms of rs1800012, rs12722 and rs13946, and the rs1800789 and rs1800791 in the promoter region showed no difference between patients with ACLI and control participants, but the changes of rs970547 and rs240736 and the rs1800787, rs1800788, rs1800790, and rs2227389 genotypes in the promoter region were associated with ACLI. Furthermore, the rs970547 allele and genotype frequencies in male ACLI patients were different from the control group ( < .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.
Males with the rs970547 A allele and rs970547 AA genotype of 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 promoter region may be genetic risk factors related to ACLI.
多种因素与前交叉韧带损伤（ACL）的发生有关，包括性别、家族因素和遗传变异。
寻找与 ACL 相关的遗传位点，并探讨 ACL 的遗传机制，为 ACL 患者的诊断、预后和治疗提供遗传基础。
横断面研究。
医院。
收集了 101 例中国云南汉族 ACL 患者和 110 例云南汉族无 ACL 患者（对照组）的数据。
分析 rs1800012、rs12722 和 rs13946、rs970547 和 rs240736 以及 （）启动子区域的 rs1800787、rs1800788、rs1800789、rs1800790、rs1800791 和 rs2227389 的单核苷酸多态性，采用限制性片段长度多态性和 DNA 测序检测，评估其与 ACL 的遗传关联性。
与对照组相比，（）启动子区域的 rs1800012、rs12722 和 rs13946 以及 rs1800789 和 rs1800791 的单核苷酸多态性在 ACL 患者与对照组之间无差异，但（）启动子区域的 rs970547 和 rs240736 以及 rs1800787、rs1800788、rs1800790 和 rs2227389 的基因型变化与 ACL 相关。此外，（）启动子区域 rs970547 等位基因和基因型频率在男性 ACL 患者中与对照组不同（<0.05）：患者中 rs970547 A 和 G 等位基因的频率分别为 71.9%和 28.1%，而对照组分别为 58.8%和 41.2%。患者中 AA、AG 和 GG 基因型的频率分别为 49.3%、45.2%和 5.5%，而对照组分别为 27.5%、62.7%和 9.8%，提示男性携带 rs970547 A 和 rs970547 AA 基因型可能患 ACL 的风险较高。
男性携带 rs970547 A 等位基因和 rs970547 AA 基因型可能 ACL 风险较高。（）启动子区域 rs1800787 TT 和 rs1800788 CT、rs1800790 AG 和 rs2227389 CT 频率较高以及 rs1800790、rs1800791 和 rs2227389 的 TGA 较高可能是 ACL 相关的遗传风险因素。
