Elizabeth L. Yanik, Ph.D.

Assistant Professor
Orthopaedic Surgery

Human and Statistical Genetics Program
Biomedical Informatics and Data Science Program

  • 314 747-3196

  • yanike@wustl.edu

  • Discovering new insights into the etiology and progression of rotator cuff disease in order to directly inform clinical decision-making and prevention approaches.

Research Abstract:

My independent research is currently focused on discovering new insights into the etiology and progression of rotator cuff disease in order to directly inform clinical decision-making and prevention approaches. Rotator cuff disease is the most frequent cause of shoulder disability, and injuries of the shoulder lead to higher median days away from work than any other body part. Rotator cuff surgery rates are also increasing, leading to significant burdens on the healthcare system. Given the high costs and morbidity of rotator cuff disease, it will be important to identify high-risk subgroups accurately to enable prevention efforts. This requires knowledge of important risk factors as well as the creation and validation of predictive models in large, prospective studies.

As one part of this research, I’ve currently obtained data from the UK Biobank, a large prospective, population-based cohort of 500,000 people with extensive data on demographics, behaviors, occupation, hospital diagnoses (including >3,000 symptomatic rotator cuff disease diagnoses), and complete genotype information for >800,000 genetic markers. Several studies are planned using this resource. First, a number of individual characteristics that have been identified as potential risk factors in laboratory settings or case-control studies, such as smoking, body mass index, and hypertension, have been collected as a part of the standard baseline visit for the cohort (which
includes extensive surveys and measurements for height, weight, and blood pressure). As such, the UK Biobank will allow us to verify and more accurately estimate the magnitude of these associations with incident rotator cuff disease. Second, the extensive genetic information available for study participants will allow us to conduct a genome-wide association study with rotator cuff disease and to develop a polygenic risk score. Previous studies have identified genetic contributors to rotator cuff disease, but no previous study has been as large or included measurement of such a large number of genetic markers. Third, a job exposure matrix will be used to link information provided by study participants on current job title and work history to data on corresponding upper extremity burdens. This will allow a better understanding of the relationship between occupational exposures and rotator cuff disease risk. These studies will further enable the development of prediction models that combine important risk factors and the evaluation of potentially important interactions between genetic and environmental risk.

I am also currently in the planning stages of a study involving prospective collection of biospecimens for genotyping from patients presenting with rotator cuff tears to our department’s clinical providers. Of particular interest are patients developing atraumatic tears at younger ages (30-50 years of age), as this early development may be indicative of a hereditary risk. As the UK Biobank has limited clinical information available characterizing the rotator cuff cases, this collection will allow the future evaluation of genetic markers discovered in the UK Biobank with the more rigorous case definitions that will be possible in our local clinical setting. This will also enable us to investigate whether the same genetic markers influence outcomes of operative and nonoperative treatment for rotator cuff tears. Additionally, there are unique opportunities within our Shoulder and Elbow Division to leverage a current R01 study of the natural history of asymptomatic rotator cuff disease in order to examine how genetic markers may contribute to the development of pain or the enlargement of rotator cuff tears.

My research has a number of potential future implications. A better understanding of genetic susceptibility may be able to guide prevention interventions towards high risk individuals, and in the era of CRISPR/Cas9, could also lead directly to novel treatments. Other identified risk factors, such as tobacco use, may be more easily modifiable and may point to the utility of already existing public health interventions to reduce the rate of symptomatic rotator cuff tears. In particular, my investigation of occupational risk factors for rotator cuff disease (which will be in collaboration with Brad Evanoff and others in occupational health) may help inform future worksite interventions. Finally, many of these factors, both genetic and non-genetic, are likely to also play important roles in determining treatment outcomes. Further study can help guide treatment decisions with the aim of ultimately optimizing
patient outcomes.

Selected Publications:

MP Kelly, JD Lurie, EL Yanik, et al. "Surgery versus Nonoperative Care for Adult Symptomatic Lumbar Scoliosis." J Bone Joint Surg Am. Accepted.

M Wasko, EL Yanik, JJ Nepple, et al. "Psychometric Properties of Patient-Reported Outcome Measures for the Periacetabular Osteotomy." J Bone Joint Surg Am. Accepted.

EL Yanik, MS Shiels, JM Smith, et al. "Contribution of solid organ transplant recipients to the pediatric non-Hodgkin lymphoma burden in the United States." Cancer. 2017 Dec. 123(23): 4663-4671.

EL Yanik, CA Clarke, JJ Snyder, et al. "Variation in cancer incidence among patients with ESRD during kidney function and nonfunction intervals." J Am Soc Nephrol. 2016 Apr. 27: 1495-1504.
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