Rotator Cuff Degeneration: The Role of Genetics

Stefano Gumina, Ciro Villani, Valerio Arceri, Corrado Fagnani, Lorenza Nisticò, Teresa Venditto, Alessandro Castagna, Vittorio Candela

Research output: Contribution to journalArticlepeer-review


BACKGROUND: The literature is certain regarding the multifactorial etiology of rotator cuff degeneration. However, it remains unclear if rotator cuff degeneration exclusively depends on intrinsic and extrinsic factors or if it is also genetically determined. We compared the health status of cuff tendons, evaluated with a magnetic resonance imaging (MRI) study, between elderly monozygotic and dizygotic twins with the aim of separating the contributions of genetics from shared and unique environments.

METHODS: The rotator cuff tendon status was assessed using the Sugaya classification by MRI. Heritability, defined as the proportion of total variance of a specific characteristic in a particular population due to a genetic cause, was calculated as twice the difference between the intraclass correlation coefficients for monozygotic and dizygotic pairs. The influence of shared environment, which contributes to twin and sibling similarity, was calculated as the difference between the monozygotic correlation coefficient and the heritability index.

RESULTS: We identified 33 pairs of elderly twins: 17 monozygotic pairs and 16 dizygotic pairs, with a mean age (and standard deviation) of 64.62 ± 3.32 years. The polychoric correlation was 0.62 in monozygotic twins and 0.53 in dizygotic twins. The calculated heritability index was 0.18 (18%), and the contribution was 0.44 (44%) for the shared environment and 0.38 (38%) for the unique environment.

CONCLUSIONS: The role of genetics in rotator cuff degeneration is quantified by our study on elderly monozygotic and dizygotic twins; however, it is only partial with respect to the contribution of shared and unique environments.

Original languageEnglish
Pages (from-to)600-605
Number of pages6
JournalThe Journal of bone and joint surgery. American volume
Issue number7
Publication statusPublished - Apr 3 2019


  • Aged
  • Diseases in Twins/diagnostic imaging
  • Employment/statistics & numerical data
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Risk Factors
  • Rotator Cuff Tear Arthropathy/diagnostic imaging
  • Twins, Dizygotic/statistics & numerical data
  • Twins, Monozygotic/statistics & numerical data


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