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Evidence for an Inherited Predisposition Contributing to the Risk for Rotator Cuff Disease

¹ University of Utah Orthopaedic Center, 590 Wakara Way, Salt Lake City, UT 84108. E-mail address: Robert.Tashjian{at}hsc.utah.edu
² Genetic Epidemiology, Department of Biomedical Informatics, University of Utah School of Medicine, 26 South 2000 East, Room 5775 HSEB, Salt Lake City, UT 84112
³ Department of Pharmacotherapy, University of Utah College of Pharmacy, 30 South 2000 East, Room 258, Salt Lake City, UT 84112

Investigation performed at the University of Utah School of Medicine, Salt Lake City, Utah

Disclosure: In support of their research for or preparation of this work, one or more of the authors received, in any one year, outside funding or grants in excess of $10,000 from the National Institutes of Health-National Library of Medicine (NLM R01 LM009331). Partial support (less than $10,000) for all datasets within the Utah Population Database was provided by the University of Utah Huntsman Cancer Institute. Neither they nor a member of their immediate families received payments or other benefits or a commitment or agreement to provide such benefits from a commercial entity. No commercial entity paid or directed, or agreed to pay or direct, any benefits to any research fund, foundation, division, center, clinical practice, or other charitable or nonprofit organization with which the authors, or a member of their immediate families, are affiliated or associated.

Methods: The Utah Population Database contains combined health and genealogical data on over two million Utah residents. Current Procedural Terminology, Fourth Revision, codes (29827, 23412, 23410, and 23420) and International Classification of Diseases, Ninth Revision, codes (726.1, 727.61, and 840.4) entered in patient records were used to identify patients with rotator cuff disease. We tested the hypothesis of excess familial clustering using two well-established methods (the Genealogical Index of Familiality test and the estimation of relative risks in relatives) in the overall study group (3091 patients) and a subgroup of the study group diagnosed before the age of forty years (652 patients).

Results: The Genealogical Index of Familiality test in patients diagnosed before the age of forty years showed significant excess relatedness for individuals with rotator cuff disease in close and distant relationships (as distant as third cousins) (p = 0.001). The relative risk of rotator cuff disease in the relatives of patients diagnosed before the age of forty years was significantly elevated for second degree (relative risk = 3.66, p = 0.0076) and third degree (relative risk = 1.81, p = 0.0479) relatives.

Conclusions: We analyzed a set of patients with diagnosed rotator cuff disease and a known genealogy to describe the familial clustering of affected individuals. The observations of significant excess relatedness of patients and the significantly elevated risks to both close and distant relatives of patients strongly support a heritable predisposition to rotator cuff disease.

Clinical Relevance: A better understanding of the familial risk of rotator cuff disease could lead to the identification of candidate genes predisposing individuals to rotator cuff disease. Gene identification will possibly allow the development of improved treatments, including biologic augmentations of rotator cuff repairs, which may improve tendon healing and repair outcomes.

Level of Evidence: Prognostic Level III. See Instructions to Authors for a complete description of levels of evidence.

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