Abstract

PURPOSE: It is unknown why some athletes develop patellar tendinopathy and others do not, even when accounting for similar workloads between individuals. Genetic differences between these two populations may be a contributing factor. The purpose of this work was to screen the entire genome for genetic markers associated with patellar tendinopathy.METHODS: Genome-wide-association (GWA) analyses were performed utilizing data from the Kaiser Permanente Research Board (KPRB) and the United Kingdom (UK) Biobank. Patellar tendinopathy cases were identified based on electronic health records from KPRB and UK Biobank. Genome-wide association analyses from both cohorts were tested for patellar tendinopathy using a logistic regression model adjusting for sex, height, weight, age, and race/ethnicity using allele counts for single nucleotide polymorphisms (SNPs). The data from the two GWA studies (KPRB abd UK Biobank) were combined in a meta-analysis.RESULTS: There were a total of 1,670 cases of patellar tendinopathy and 293,866 controls within the two cohorts. Two SNPs located in the intron of the Cytochrome C Oxidase Assembly Factor 1 (COA1) gene showed a genome-wide significant association in the meta-analysis.CONCLUSIONS: Genetic markers in COA1 appear to be associated with patellar tendinopathy and are potential risk factors for patellar tendinopathy that deserve further validation regarding molecular mechanisms.

View details for DOI 10.1249/MSS.0000000000002710

View details for PubMedID 34081057