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Journal of Bone and Joint Surgery - British Volume, Vol 91-B, Issue 7, 915-917.
doi: 10.1302/0301-620X.91B7.22353  
Copyright © 2009 by British Editorial Society of Bone and Joint Surgery
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Genetic influences in the progression of tears of the rotator cuff

S. E. Gwilym, BSc(Hons), MRCS, ARC Orthopaedic Clinical Research Fellow1; B. Watkins, RGN, Research Nurse1; C. D. Cooper, RGN, Research Nurse and Clinical Trial Co-ordinator1; P. Harvie, BSc, MRCS, Specialist Registrar2; S. Auplish, FRCS(Orth), Girdlestone Memorial Scholar3; T. C. B. Pollard, BSc(Hons), MRCS, Specialist Registrar and Botnar Surgical Research Fellow1; J. L. Rees, MD, FRCS(Tr & Orth), University Lecturer and Honorary Consultant Orthopaedic Surgeon1; and A. J. Carr, ChM, FRCS, Nuffield Professor of Orthopaedic Surgery and Head of Department and Director of the NIHR Musculoskeletal Biomedical Research Unit1

1 NDORMS, Nuffield Orthopaedic Centre, Windmill Road, Oxford OX3 7LD, UK.
2 Royal Perth Hospital, 6 Selby Street, Shenton Park 6008, Perth, Western Australia.
3 Wrightington Hospital, Hall Lane, Appley Bridge, Wigan, Lancashire WN6 9EP, UK.

Correspondence should be sent to Professor A. J. Carr; e-mail: andrew.carr{at}ndos.ox.ac.uk

The aim of this study was to investigate genetic influences on the development and progression of tears of the rotator cuff. From a group of siblings of patients with a tear of the rotator cuff and of controls studied five years earlier, we determined the prevalence of tears of the rotator cuff with and without associated symptoms using ultrasound and the Oxford Shoulder Score.

In the five years since the previous assessment, three of 62 (4.8%) of the sibling group and one of the 68 (1.5%) controls had undergone shoulder surgery. These subjects were excluded from the follow-up.

Full-thickness tears were found in 39 of 62 (62.9%) siblings and in 15 of 68 (22.1%) controls (p = 0.0001). The relative risk of full-thickness tears in siblings as opposed to controls was 2.85 (95% confidence interval (CI) 1.75 to 4.64), compared to 2.42 (95% CI 1.77 to 3.31) five years earlier. Full-thickness tears associated with pain were found in 30 of 39 (76.9%) tears in the siblings and in eight of 15 (53.3%) tears in the controls (p = 0.045). The relative risk of pain associated with a full-thickness tear in the siblings as opposed to the controls was 1.44 (95% CI 2.04 to 8.28) (p = 0.045).

In the siblings group ten of 62 (16.1%) had progressed in terms of tear size or development compared to one of 68 (1.5%) in the control group which had increased in size.

Full-thickness rotator cuff tears in siblings are significantly more likely to progress over a period of five years than in a control population. This implies that genetic factors have a role, not only in the development but also in the progression of full-thickness tears of the rotator cuff.






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Hip, Knee, Trauma, Upper limb, Foot & Ankle, Paediatrics, Oncology, Spine, Arthroplasty, General