Genetic Rotator Cuff Disease

Principal Investigator: Robert Tashjian
Keywords: Rotator Cuff , Orthopedic Surgery , Genetics , Shoulder Department: Orthopedic Surgery
IRB Number: 00029048 Co Investigator: Lisa  Cannon-Albright
Specialty: Orthopaedic Surgery, Orthopaedic Surgery
Sub Specialties: Shoulder and Elbow,
Recruitment Status: Enrolling by invitation

Contact Information

Nousheen Alasti

Brief Summary

This study will begin to evaluate the heritability of rotator cuff disease, and begin creation of a powerful resource for future genetic studies of 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. For the enrolled patients who undergo surgical repair of the rotator cuff, we will obtain a second shoulder MRI at a minimum of 1 year post-operatively along with physical examination and outcome questionnaires. This will allow us to observe healing and possibly correlate healing status with genetics.

 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.Collected samples may be genotyped on high-density SNP platform or sequenced on a genome-wide basis. 

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.

Aim 8. Query the UUHSC EDW for rotator cuff diagnosis codes and obtain MRI imaging and reports for any patient in the network. Using natural language processing we will filter for those patients with a full thickness rotator cuff tear in order to estimate the pool of possible participants that could potentially be recruited at the University.

Detailed Description

Very little information exists regarding the etiology regarding rotator cuff disease. Early evidence from studies, including population based analysis performed here at the University of Utah, suggest that there is a familial predisposition for rotator cuff tearing. We plan to further evaluate the genetic and familial contribution to rotator cuff disease by developing a genetic database. We plan to recruit patients from the principal investigators clinical practice with documented rotator cuff tears based upon MRIs to undergo a physical exam, questionnaire evaluation and donate a blood sample for future genetic analysis. We also plan to recruit patients with no evidence of rotator cuff tearing to undergo a contralateral shoulder MRI to rule out rotator cuff disease and also undergo history, physical exam, questionnaire evaluation and blood donation. Finally, we plan to recruit family members of patients with rotator cuff tears to undergo bilateral rotator cuff MRIs, history, physical, questionnaire evaluation and blood sampling. Using this information, we plan to determine the hereditary pattern of rotator cuff disease along with performing candidate gene analysis for possible genes predisposing to rotator cuff disease.

Inclusion Criteria

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

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

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

Exclusion Criteria

1. Exclude any patient who has undergone prior shoulder surgery besides surgery performed at the UUOC or VA Salt Lake Medical Center where accurate information, including MRI data exist, regarding the presence or absence of rotator cuff tearing before the surgery.

2. Any patient who is pregnant.