The CuffGEN study is an observational cohort based on cases and controls to determine genetic patterns associated with rotator cuff tears.

The cuffGEN study will identify associations between genetic variants and cuff tears by prioritizing gene discovery and incorporating gene-expression data from adipose and muscle using reference databases with GWAS results. In addition to identifying high-risk individuals with genetic variants associated with rotator cuff tear and fatty infiltration, the study will assess causality between obesity and fatty infiltration. Data on genetic predispositions to cuff tears will help in identifying high-risk individuals and developing optimal interventions or gene therapies based on an individual’s genetic profile.

The cuffGEN study is looking to recruit approximately 2,500 participants nationwide who present with shoulder complaints at participating recruitment sites. Those patients who are in the study age range (40-84) and have had a shoulder MRI confirming either (1) the presence or (2) absence of a rotator cuff tear will be identified as potential cases or controls, respectively. Patients who agree to participate in the study will be consented, complete baseline questionnaires, and provide a saliva sample for genetic testing. We are convinced this study will help patients and providers make better and more informed decisions in the future.


  • People ages 40-84 with or without rotator cuff tears who meet all eligibility criteria may participate in this study.
Current Participating Sites:
  • Beth Israel Deaconess Medical Center – BIDMC (Boston, MA)
  • Boston Medical Center – BMC (Boston, MA)
  • Brigham and Woman’s Hospital – BWH (Boston, MA)
  • Orthopedic Institute – Ortho Inst. (Sioux Falls, SD)
  • University of Iowa – UIowa (Iowa City, IA)
  • University of Texas Southwestern Medical Center – UTSW (Dallas, TX)
  • Vanderbilt University Medical Center – VUMC (Nashville, TN)