Principal Investigator: Dr Stuart Kim
Stanford University, Developmental Biology, Stanford University Medical Center, Stanford CA 94305, United StatesTags: 17847, GWAS, sports injury
1a: GWAS for sports injury risk could provide a rich source of new genetic knowledge that can be used to reduce injuries in athletes. Until now, gene association studies have been limited to candidate gene studies for only a few types of injuries. We would like to use the UK Biobank to perform a whole-genome screen for SNPs for a diverse array of sports injuries, such as ACL rupture and Rotator Cuff Injury. Use of this genetic information may aid in the development of a personalized injury prevention program for athletes, which could provide a new edge for successful competition.
1b: The proposed research is to benefit the health of athletes. The results will be made publicly available via publication and deposition of data in public databases. All the data will be de-identified and protected on a secure server. We have IRB approval for a similar project using the RPGEH cohort, and it should be straightforward to extend the IRB application for the UK Biobank data.
1c: We propose to perform a GWAS analysis for nine types of musculoskeletal injuries. The nine injuries are:
Anterior cruciate ligament (knee)
Posterior cruciate ligament rupture
Medial collateral ligament rupture
Patella tendon rupture
Quadriceps tendon rupture
Achilles tendon rupture and tendonosis
Rotator cuff muscle rupture
The GWAS will be a case/control analysis, using genotype, sex, ancestry and age as covariates, as appropriate. Each of the injuries is encoded in the electronic medical records with an ICD9 code.
We will use standard methods for the GWAS analysis (i.e. PLINK and IMPUTE2).
1d: Full cohort