Elizabeth Yanik

Early Career Tenure-track Researcher, Washington University in St. Louis

1 active project

Rotator cuff genetics

This workspace is intended to identify the genetic risk factors for rotator cuff disease, specifically degenerative rotator cuff disease, and understand how these genetic factors correspond to patient characteristics, such as age at rotator cuff tear diagnosis. This information can…

Scientific Questions Being Studied

This workspace is intended to identify the genetic risk factors for rotator cuff disease, specifically degenerative rotator cuff disease, and understand how these genetic factors correspond to patient characteristics, such as age at rotator cuff tear diagnosis.
This information can inform calculations of an individual's risk for developing a rotator cuff tear based on genetic information. Genetic predisposition to degenerative rotator cuff disease may also influence tear healing after surgical rotator cuff repair, and so better understanding of key genetic markers may help predict treatment outcomes in the future.

Project Purpose(s)

  • Disease Focused Research (Rotator cuff disease)
  • Control Set
  • Ancestry

Scientific Approaches

We will conduct analyses in the participants that have been genotyped. Information from electronic medical records will be used to identify rotator cuff disease diagnoses. We plan to both make comparisons between people with and without rotator cuff disease diagnoses within the All of Us cohort, and also to use the All of Us cohort as a control population to compare to patients with confirmed rotator cuff disease diagnoses in an external study population.

Anticipated Findings

We anticipate confirming findings from prior rotator cuff genetic studies, by replicating associations with genetic markers that have been identified in the literature. In addition, we hope to identify novel genetic markers associated with rotator cuff disease as we anticipate that the All of Us population will ultimately be larger than any prior genetic study of rotator cuff disease. These results will help improve the understanding of rotator cuff genetics. Identifying individual genetic markers of importance will allow more detailed study of those markers to identify the mechanisms through which genes influence the development and progression of rotator cuff tears.

Demographic Categories of Interest

This study will not center on underrepresented populations.

Data Set Used

Controlled Tier

Research Team

Owner:

  • Elizabeth Yanik - Early Career Tenure-track Researcher, Washington University in St. Louis
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