| Title: | Family History and Heritability of Rotator Cuff Tears |
| Journal: | Journal of Shoulder and Elbow Surgery |
| Published: | 1 Mar 2026 |
| DOI: | https://doi.org/10.1016/j.jse.2026.03.008 |
Publication 17563
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Abstract
Background Prior studies suggest familial clustering of rotator cuff tears (RCT) but are limited by sample size or by approach and no study has estimated narrow-sense heritability of RCT. We perform a comprehensive assessment on the familial heritability of RCT. Methods We utilized data from three studies: the cuffGen study, BioVU and UK Biobank (UKB). In cuffGen, imaging confirmed RCT cases and controls completed a baseline questionnaire inquiring about their family history of RCT. In BioVU and UKB, RCT status was identified using electronic health record (EHR) data, while family relatedness was estimated empirically with genome-wide genetic array data. We then evaluated the association between family relatedness and RCT status in all three studies using multivariable-adjusted logistic regression models while adjusting for age, sex, race/ethnicity, and genetic principal components (when appropriate). Then utilizing genetic data in BioVU and UKB, we estimated narrow-sense/SNP-based heritability for RCT, employing linkage disequilibrium score regression approach. Results In the cuffGen study, RCT cases were more likely to report any family history of RCT (Adjusted Odds Ratio [AOR]: 1.82; 95%CI 1.23-2.70) than controls. The association was stronger in first-degree relatives (AOR- 1.59; 95%CI 1.12-2.26), than in second-degree relatives. In BioVU and UKB, familial relatedness is also associated with increased odds of RCT (BioVU: AOR- 1.21; 95%CI 1.13-1.30; UKB: AOR- 1.09; 95%CI 1.04-1.15). However, the strongest associations were observed in third-degree relatives in BioVU (AOR: 1.56; 95%CI 1.10-2.14) and second-degree relatives in UKB (AOR: 1.25; 95%CI 1.12-1.39) rather than first-degree relatives. In SNP-based heritability analyses, we observed less than 1% of heritability of RCT was explained by SNPs (0.2% in BioVU, 0.75% in UKB) suggesting minimal contribution of genetic factors in heritability of RCT. Conclusion While rotator cuff tears (RCT) cluster within families, SNP-based heritability explains less than 1% contribution to heritability of symptomatic RCT. These data suggest that genetic factors alone may have a minimal impact on symptomatic RCT susceptibility, while non-genetic familial factors, such as environmental or healthcare-related factors represent plausible alternative explanations that warrant further investigation. Level of Evidence Prognostic Level III</p>
13 Authors
- Ravi Prakash
- Til Bahadur Basnet
- Wenting Liu
- Max Alexander Breyer
- Simone D. Ueland
- Michael S. Khazzam
- Brain R. Wolf
- Xinning Li
- Keith M. Baumgarten
- Alison Cabrera
- Joseph P. DeAngelis
- Ayush Giri
- Nitin B. Jain
1 Application
| Application ID | Title |
|---|---|
| 73422 | Genetic Epidemiology of rotator cuff disease |
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