Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA, USA.
Department of Orthopedic Surgery, Stanford University School of Medicine, Stanford, CA, USA.
Cartilage. 2022 Jul-Sep;13(3):19476035221121790. doi: 10.1177/19476035221121790.
It is unknown why some athletes develop chondromalacia and others do not, even when accounting for similar workloads between individuals. Genetic differences between individuals may be a contributing factor. The purpose of this work was to screen the entire genome for genetic markers associated with chondromalacia.
Genome-wide association (GWA) analyses were performed utilizing data from the Kaiser Permanente Research Board (KPRB) and the UK Biobank. Chondromalacia cases were identified based on electronic health records from KPRB and UK Biobank. GWA analyses from both cohorts were tested for chondromalacia using a logistic regression model adjusting for sex, height, weight, age of enrollment, and race/ethnicity using allele counts for single-nucleotide polymorphisms (SNPs). The data from the 2 GWA studies (KPRB and UK Biobank) were combined in a meta-analysis.
There were a total of 3,872 combined cases of chondromalacia from the KPRB and the UK Biobank cohorts. Genome-wide significant associations with chondromalacia were found for rs144449054 in the gene (OR = 3.70 [2.32-5.90]; = 1.4 × 10) and rs188900564 in the (OR = 2.07 [1.61-2.65]; = 3.7 × 10).
Genetic markers in and appear to be associated with chondromalacia and are potential risk factors that deserve further validation regarding molecular mechanisms.
目前尚不清楚为什么有些运动员会出现软骨软化症，而有些运动员则不会，即使考虑到个体之间的工作量相似。个体之间的遗传差异可能是一个促成因素。这项工作的目的是筛选与软骨软化症相关的全基因组遗传标记。
利用 Kaiser Permanente 研究委员会 (KPRB) 和英国生物银行的数据进行全基因组关联 (GWA) 分析。根据 KPRB 和英国生物银行的电子健康记录确定软骨软化症病例。使用逻辑回归模型对来自两个队列的 GWA 分析进行测试，该模型通过调整性别、身高、体重、入组年龄和种族/民族，使用单核苷酸多态性 (SNP) 的等位基因计数来调整，以测试软骨软化症。来自 2 个 GWA 研究（KPRB 和英国生物银行）的数据在荟萃分析中合并。
来自 KPRB 和英国生物银行队列的软骨软化症总共有 3872 例合并病例。在 基因中的 rs144449054 （OR = 3.70 [2.32-5.90]； = 1.4 × 10）和 基因中的 rs188900564 （OR = 2.07 [1.61-2.65]； = 3.7 × 10）与软骨软化症存在全基因组显著关联。
基因和 基因中的遗传标记似乎与软骨软化症相关，是潜在的风险因素，值得进一步验证其分子机制。
