Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study
NCT ID: NCT04831164
Last Updated: 2026-02-10
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
3500 participants
OBSERVATIONAL
2021-03-04
2031-12-31
Brief Summary
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Primary Objective: To conduct a case-control GWAS of imaging-verified symptomatic rotator cuff tear in approximately 3000-6000 individuals and replicate findings in an independent set of 3000-6000 or more imaging-verified individuals to identify common variants in several genetic loci that increase risk for rotator cuff tears.
Hypothesis: Common variants in several genetic loci increase risk for rotator cuff tears.
Secondary Objectives:
1. To perform an imputed transcriptome-wide association study (TWAS) to identify and prioritize gene targets associated with rotator cuff tear by integrating GWAS summary statistics and gene-expression weights from muscle and adipose tissue available in the GTEx project.
Hypothesis: Genetically predicted gene expression of multiple genes in muscle and adipose tissue are associated with rotator cuff tear.
2. To identify if single nucleotide polymorphisms (SNPs) associated with rotator cuff tear and their genetic risk score (GRS) predict improved pain and function as measured by American Shoulder and Elbow Surgeons Standardized Form (ASES) and other outcome measures.
Hypothesis: Select SNPs and GRS predict ASES outcome.
3. To identify genetic variants associated with Fatty Infiltration (FI) in patients with cuff tears in a two stage GWAS of imaged rotator cuffs and to prioritize gene targets through an imputed-TWAS in muscle and adipose tissue.
Hypothesis: Multiple genetic variants are associated with FI and some exert their influence by altering gene expression in the muscle and adipose tissue.
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Detailed Description
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We will perform a genome-wide association meta-analysis (GWAMA) in approximately 10,000 imaging-verified rotator cuff tear cases and imaging-verified controls. Discovery meta-analysis will consist of samples from cuffGEN cohort with MRI imaging (N=1,250 cases and 1,250 controls) and samples from BioVU based on MRI report-confirmed cases and controls (N \~ 2400 with equal cases and controls). Targeted variants showing some evidence of association (P \< 5 x 10-6) will be replicated in an independent cohort of imaging confirmed cuff tear cases (N \> 2,500) and controls (N \> 2,500) from the GERA study. In addition to providing careful selection of cases via imaging confirmation, equal attention to the confirmation of lack of tears via imaging greatly reduces misclassification of cases and controls and allows for detection of effect estimates that are likely larger (away from the null). Adhering to the same stringent criteria for discovery and replication greatly improves our ability over previous studies to identify variants associated with cuff tears.
Conditions
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Study Design
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CASE_CONTROL
OTHER
Study Groups
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Case
Patients with MRI confirmed rotator cuff tears
NA (not an interventional study)
(not an interventional study)
Control
Patients without rotator cuff tears
NA (not an interventional study)
(not an interventional study)
Interventions
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NA (not an interventional study)
(not an interventional study)
Eligibility Criteria
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Inclusion Criteria
* Confirmed diagnosis of partial or full-thickness cuff tear on MRI (Cases) OR absence of rotator cuff tear on shoulder MRI (Controls)
* Ability and willingness to provide informed consent
* Ability to complete questionnaires in English (to maintain scientific integrity since standardized questionnaires are extensively validated in English)
Exclusion Criteria
40 Years
85 Years
ALL
No
Sponsors
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National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIH
University of Michigan
OTHER
Responsible Party
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Nitin Jain
Professor of Physical Medicine & Rehabilitation, and Orthopaedics
Principal Investigators
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Nitin Jain, MD
Role: PRINCIPAL_INVESTIGATOR
University of Michigan
Locations
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University of Iowa
Iowa City, Iowa, United States
Brigham and Women's Hospital
Boston, Massachusetts, United States
Boston Medical Center
Boston, Massachusetts, United States
Beth Israel Deaconess Medical Center
Boston, Massachusetts, United States
University of Michigan
Ann Arbor, Michigan, United States
Ohio State University
Columbus, Ohio, United States
Orthopedic Institute
Sioux Falls, South Dakota, United States
Vanderbilt University Medical Center
Nashville, Tennessee, United States
Parkland Health and Hospital System
Dallas, Texas, United States
University of Texas Southwestern Medical Center
Dallas, Texas, United States
Countries
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Central Contacts
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Facility Contacts
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Gregory Cvetanovich, MD
Role: primary
Other Identifiers
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STU-2020-0689
Identifier Type: -
Identifier Source: org_study_id
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