title: Identification of a genetic variant associated with rotator cuff repair healing.
abstract: BACKGROUND
  A familial and genetic predisposition for the development of rotator cuff tearing has been identified. The purpose of this study was to determine if a familial predisposition exists for healing after rotator cuff repair and if the reported significant association with a single-nucleotide polymorphism (SNP) in the ESRRB gene is present in patients who fail to heal.
  
  
  METHODS
  The study recruited 72 patients undergoing arthroscopic rotator cuff repair for a full-thickness posterosuperior tear. Magnetic resonance imaging studies were performed at a minimum of 1 year postoperatively (average, 2.6 years). Healing failures were classified as lateral or medial. Self-reported family history of rotator cuff tearing data and genome-wide genotypes were available. Characteristics of cases with and without a family history of rotator cuff tearing were compared, and a comparison of the frequency of SNP 1758384 (in ESRRB) was performed between patients who healed and those who failed to heal.
  
  
  RESULTS
  Of the rotator cuff repairs, 42% failed to heal; 42% of patients reported a family history of rotator cuff tear. Multivariate regression analysis showed a significant association between familiality and overall healing failure (medial and lateral failures) (P = .036) and lateral failures independently (P = .006). An increased risk for the presence of a rare allele for SNP rs17583842 was present in lateral failures compared with those that healed (P = .005).
  
  
  CONCLUSIONS
  Individuals with a family history of rotator cuff tearing were more likely to have repair failures. Significant association of a SNP variant in the ESRRB gene was also observed with lateral failure.
authors.affiliation: Department of Orthopaedics, University of Utah School of Medicine, Salt Lake City, UT, USA; George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, UT, USA. Electronic address: Robert.Tashjian@hsc.utah.edu.
authors.forename: Robert Z
authors.initials: RZ
authors.lastname: Tashjian
authors.affiliation: Department of Orthopaedics, University of Utah School of Medicine, Salt Lake City, UT, USA.
authors.forename: Erin K
authors.initials: EK
authors.lastname: Granger
authors.affiliation: Division of Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
authors.forename: Yue
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
authors.forename: Craig C
authors.initials: CC
authors.lastname: Teerlink
authors.affiliation: George E. Wahlen Department of Veterans Affairs Medical Center, Salt Lake City, UT, USA; Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Cannon-Albright
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001182:Arthroscopy; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D011446:Prospective Studies; D011960:Receptors, Estrogen / Q000235:genetics*; D012307:Risk Factors; D017006:Rotator Cuff / Q000601:surgery*; D000070636:Rotator Cuff Injuries / Q000235:genetics* / Q000601:surgery*; D017211:Treatment Failure; D016896:Treatment Outcome; D014945:Wound Healing / Q000235:genetics*; D000097983:ERRalpha Estrogen-Related Receptor
chemical_list: D011960:Receptors, Estrogen; D000097983:ERRalpha Estrogen-Related Receptor
keywords: ESRRB; Rotator cuff tear; familiality; genetic association; rotator cuff repair; tendon healing