Genetic and familial predisposition to rotator cuff disease: a systematic review.
BACKGROUND
Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease.


METHODS
A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion and exclusion criteria.


RESULTS
Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A 5-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears did. The other 3 studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGF3, ESRRB, and FGF10 and 2 single-nucleotide polymorphisms within SAP30BP and SASH1.


CONCLUSIONS
Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions.
Vanderbilt University School of Medicine, Vanderbilt University, Nashville, TN, USA.
Dominique I
DI
Dabija
Department of Physical Medicine and Rehabilitation, Vanderbilt University Medical Center, Nashville, TN, USA.
Chan
C
Gao
Division of Epidemiology, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA.
Todd L
TL
Edwards
Department of Orthopaedics and Rehabilitation, Vanderbilt University Medical Center, Nashville, TN, USA.
John E
JE
Kuhn
Department of Physical Medicine and Rehabilitation, Vanderbilt University Medical Center, Nashville, TN, USA; Division of Epidemiology, Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Orthopaedics and Rehabilitation, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address: nitin.jain@vanderbilt.edu.
Nitin B
NB
Jain
D020022:Genetic Predisposition to Disease; D006801:Humans; D009135:Muscular Diseases / Q000235:genetics*; D017006:Rotator Cuff
Rotator cuff disease; epidemiology; familial predisposition; genetic predisposition; rotator cuff tears; tendinopathy