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Heritability of scoliosis

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Abstract

Purpose

To estimate the heritability of scoliosis in the Swedish Twin Registry.

Methods

Self-reported data on scoliosis from 64,578 twins in the Swedish Twin Registry were analysed. Prevalence, pair- and probandwise concordances and tetrachoric correlations in mono- and dizygotic same-sex twins were calculated. The relative importance of genetic variance, i.e. the heritability, and unique and shared environmental variance was estimated using structural equation modelling in Mx software. In addition, all twins in the twin registry were matched against the Swedish Inpatient Register on the primary diagnosis idiopathic scoliosis.

Results

The prevalence of scoliosis was 4%. Pair- and probandwise concordance was 0.11/0.17 for mono- and 0.04/0.08 for same-sex dizygotic twins. The tetrachoric correlation (95% CI) was 0.41 (0.33–0.49) in mono- and 0.18 (0.09–0.29) in dizygotic twins. The most favourable model in the Mx analyses estimated the additive genetic effects (95% CI) to 0.38 (0.18–0.46) and the unique environmental effects to 0.62 (0.54–0.70). Shared environmental effects were not significant. The pairwise/probandwise concordance for idiopathic scoliosis in the Swedish Inpatient Register was 0.08/0.15 for monozygotic and zero/zero for same-sex dizygotic twins.

Conclusion

Using self-reported data on scoliosis from the Swedish Twin Registry, we estimate that 38% of the variance in the liability to develop scoliosis is due to additive genetic effects and 62% to unique environmental effects. This is the first study of sufficient size to make heritability estimates of scoliosis.

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Acknowledgments

Financial support was provided by the regional agreement on medical training and clinical research (ALF) between Stockholm County Council and Karolinska Institutet, Swedish Society of Orthopaedic Surgeons, Swedish Society of Spine Surgeons, Alfred Österlund Foundation, Hermann Järnhardt Foundation and Emil Andersson Foundation. Research funds were received from Region Skåne County Council, Karolinska Institutet and Västernorrland County Council.

Conflict of interest

None.

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Authors and Affiliations

  1. Department of Orthopaedics, Karolinska University Hospital, Stockholm, Sweden

    Anna Grauers & Paul Gerdhem

  2. Department of Clinical Sciences, Intervention and Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden

    Anna Grauers & Paul Gerdhem

  3. Department of Orthopaedics, Sundsvall County Hospital, 85186, Sundsvall, Sweden

    Anna Grauers

  4. Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden

    Iffat Rahman

Authors
  1. Anna Grauers
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  2. Iffat Rahman
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  3. Paul Gerdhem
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Correspondence to Anna Grauers.

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Grauers, A., Rahman, I. & Gerdhem, P. Heritability of scoliosis. Eur Spine J 21, 1069–1074 (2012). https://doi.org/10.1007/s00586-011-2074-1

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  • DOI: https://doi.org/10.1007/s00586-011-2074-1

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