A genome wide association study for shoulder impingement and rotator cuff disease
Journal of Shoulder and Elbow Surgery Jan 22, 2021
Kim SK, Nguyen C, Jones KB, et al. - The present study was conducted to distinguish genetic variants correlated with rotator cuff disease by conducting a genome-wide association study (GWAS) for shoulder impingement utilizing the UK Biobank (UKB) cohort and then combining the GWAS data with a prior GWAS for rotator cuff tears. The loci distinguished by the GWAS and meta-analysis were analyzed for variations in expression following rotator cuff tearing applying RNA sequencing. Researchers conducted a GWAS utilizing data from UKB with 3,864 cases of shoulder impingement. For shoulder impingement, this is the first GWAS in which new data from UKB enabled the identification of four loci exhibiting a genetic association. For rotator cuff tearing, a meta-analysis with a prior GWAS distinguished an additional seven loci. The data indicated that the known biological roles of many of the 11 loci imply plausible biological mechanisms underlying the etiology of rotator cuff disease. The risk alleles from each of the genetic loci can be applied to evaluate the risk for rotator cuff disease in individual patients, enabling preventative or restorative actions via personalized medicine.
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