Genetic Factors Affecting Risks for Rotator Cuff Disease

Aim 1. We will recruit and study all patients of the PI who undergo MRI for shoulder
complaints. The PI is a shoulder and elbow surgeon and treats a variety of shoulder and
non-shoulder pathology. All patients agreeing to participate will undergo a history, physical
examination of the shoulder, recording of demographics, family history, genealogy, and risk
factors. All participants will provide a blood or saliva sample. Serum and DNA will be stored
at the University of Utah for future analysis. Based upon the results of MRI, patients will
be categorized based on the presence or absence or rotator cuff tearing. We hope to extend to
hospital-wide ascertainment eventually. All patients will be asked if they have known cases
of shoulder disorders in their family members. Patients will have the option of sharing their
living family members name and contact information with the research team, so we can contact
them and invite them to the study.

Aim 2. From this DNA bio-repository, we will begin to describe the familial nature of rotator
cuff disease and the characteristics related to increased risk. We will also begin
ascertainment and sampling of high-risk individuals and pedigrees, perform association
studies to identify risk-associated variants, and screen candidate genes as funding is
available.

Aim 3: Utilizing the Utah Population Database (UPDB), we will also define high risk pedigrees
within the cohort of individuals with rotator cuff tears. We will also use the database to
identify high risk pedigrees by examining the information on family members of patients of
with tears to identify high risk pedigrees as well. The RGE has already approved the use of
the UPDB for these purposes.

Aim 4: Use UUHSC medical records linked to the UPDB to define the heritable nature of rotator
cuff injury and other tendonopathies.

Aim 5: Determine ABO frequencies for patients with rotator cuff tears and compare to
population normals utilizing the UPDB.

Aim 6: Use UUHSC medical records linked to the UPDB to define the heritable nature of rotator
cuff injury and compression neuropathies.

Aim 7: Query the UUHSC EDW for rotator cuff repair codes and obtain the ABO blood typing for
these patients. We will also obtain operative room reports, names and MRN numbers for these
patients to ensure there aren't duplications between already enrolled patients and UUHSC EDW
findings.

Inclusion Criteria:

- Includes any patient who has had a shoulder MRI performed to evaluate shoulder pain as
part of a standard clinical exam.

- All first degree relatives of patients with documented rotator cuff tearing will also
be possible study participants.

- All patients of Drs. Tashjian, Burks and Greis who have undergone surgical rotator
cuff repair.

Exclusion Criteria:

- Exclude any patient who has undergone prior shoulder surgery besides surgery performed
by the PI where accurate information, including MRI data exist, regarding the presence
or absence of rotator cuff tearing before the surgery.

- Any patient who is pregnant.