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Rheumatology Advance Access originally published online on June 27, 2003
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Rheumatology 2003; 42: 1495-1500
© 2003 British Society for Rheumatology

Genetic contribution to cartilage volume in women: a classical twin study

David J. Hunter1,2, Harold Snieder3,4, Lyn March1 and Philip N. Sambrook1

1Institute of Bone and Joint Research, Royal North Shore Hospital, University of Sydney, Sydney, Australia, 2Clinical Epidemiology Research and Training Unit, Boston University School of Medicine, Boston, MA, 3Georgia Prevention Institute, Department of Pediatrics, Medical College of Georgia, Augusta, GA, USA and 4Twin Research & Genetic Epidemiology Unit, St Thomas Hospital, London, UK.

Correspondence to: D. J. Hunter, Clinical Epidemiology Research and Training Unit, Boston University School of Medicine, 715 Albany Street, Room A203, Boston, MA 02118, USA. E-mail: djhunter{at}bu.edu

Objective. A classical twin study was performed to assess the relative contribution of genetic and environmental factors to cartilage volume.

Methods. The subjects were 136 adult female twins: 31 monozygotic and 37 dizygotic twin pairs. The subjects had a T2-weighted fat-saturated sagittal gradient echo MRI performed of their right knee. Femoral, tibial and patella cartilage volumes were measured using 3D Slicer, a piece of software that facilitates semi-automatic segmentation, generation of three-dimensional surface models and quantitative analysis. The intraclass correlations were calculated, and maximum-likelihood model fitting was used to estimate genetic and environmental variance components. All variables were adjusted for age, BMI and femoral condyle size.

Results. The intraclass correlations for all of the cartilage volumes assessed were higher in monozygotic than dizygotic twin pairs. The heritabilities (95% confidence intervals) obtained from model fitting were: femoral, 61% (36–77%); tibial, 76% (56–87%); patella, 66% (47–79%); and total cartilage volume, 73% (51–85%).

Conclusion. This study provides evidence for the importance of genetic factors in determining cartilage volume. Identifying heritability is the first step on the way to finding specific genes, which may improve our insight in the pathophysiology of cartilage disorders including the etiology of complex diseases such as osteoarthritis.

KEY WORDS: Cartilage volume, Genetics, MRI, Twin study.


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