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Heritable and environmental factors in the causation of clinical vertebral fractures
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Orthopaedics.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Klinisk farmakogenomik och osteoporos)
Department of Medical Epidemiology and Biostatistics, Karolinska Institutet.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences, Orthopaedics.
2012 (English)In: Calcified Tissue International, ISSN 0171-967X, E-ISSN 1432-0827, Vol. 90, no 6, 458-464 p.Article in journal (Refereed) Published
Abstract [en]

Vertebral fractures are common osteoporotic fractures, and their incidence is greater in Scandinavia than in other European regions. Vertebral fractures are strongly associated with low bone mineral density, which has a predominant genetic etiology. The heritability of radiological vertebral deformities has been estimated in one recent family study. The objective of our study was to determine the genetic liability to clinical vertebral fractures and to what extent individual-specific environmental factors can explain the variance of these fractures. Participants were ascertained from the Swedish Twin Registry. Twin pairs born 1896-1944 formed the study base, a total of 33,432 subjects. Vertebral fractures after the age of 50 years were identified in the National Patient Register ( = 1,037) or by self-report ( = 35). The age-adjusted heritability for all vertebral fractures was 0.17 (95 % CI 0.00-0.40). Restricting the fracture cases to low-energy causes of injury, the heritability was 0.24 (95 % CI 0.00-0.47). Individual-specific environmental influences were found to explain one-third of the variance in vertebral fracture occurrence before the age of 70 years (0.33, 95 % CI 0.16-0.56), whereas they explained most of the variance among those 80 years of age or older (0.83, 95 % CI 0.61-1.00). We conclude that the occurrence of clinical vertebral fractures is largely explained by environmental influences and not by genetic factors. Individual-specific environmental influences such as lifestyle become more important with increasing age, and it is of importance to identify those environmental factors that cause more fracture cases in Scandinavia than in other European settings.

Place, publisher, year, edition, pages
2012. Vol. 90, no 6, 458-464 p.
Keyword [en]
Vertebral fracture, Heritability, Environment, Twin study, Osteoporotic fracture
National Category
URN: urn:nbn:se:uu:diva-169597DOI: 10.1007/s00223-012-9592-7ISI: 000303878900003OAI: oai:DiVA.org:uu-169597DiVA: diva2:507381
Available from: 2012-03-04 Created: 2012-03-04 Last updated: 2012-06-08Bibliographically approved
In thesis
1. Genetic and Environmental Influences on Bone and Fractures
Open this publication in new window or tab >>Genetic and Environmental Influences on Bone and Fractures
2012 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Sweden and Norway have the worldwide highest incidence of osteoporotic fractures. As these fractures constitute a tremendous and growing problem, primary prevention is of great importance. The principal causes of an osteoporotic fracture are a fall and a fragile skeleton. The aim of the studies reported in these papers was therefore to determine the genetic and environmental influences on fractures and the genetic influence on the two main reasons to the emergence of osteoporotic fractures; bone mineral density and propensity to fall.

In the present thesis, we display that the heritability of fractures is dependent on fracture site and age. With increasing age, lifestyle becomes the dominant explanatory factor. These results indicate that focus should be on lifestyle interventions for the prevention of fractures in the elderly.

Although the genetic liability to impaired balance is modest, twins with self-reported impaired balance have a substantially increased risk of osteoporotic fractures compared to their co-twin without impaired balance. Asking a patient about his or her balance might be a simple tool for future risk assessment.

The genetic influence on bone phenotypes is under strong genetic influence in Swedish adult twins. These findings are in agreement with the results from previous studies in other countries, with a lower incidence of osteoporotic fractures compared to Sweden. The high heritability of bone phenotypes together with the low heritability of fractures at old age, indicates that bone mineral density has a modest influence on fracture risk at old age.

In summary, based on the results in this thesis, more emphasis should be targeted to the prevention of falls, by strength and balance training in order to prevent the occurrence of  low energy fractures in the elderly.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2012. 51 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 746
heritability, twin study, osteoporotic fractures, vertebral fractures, balance, bone mineral density, bone area, bone markers
National Category
Research subject
urn:nbn:se:uu:diva-169598 (URN)978-91-554-8291-6 (ISBN)
Public defence
2012-04-27, Rosénsalen, ing 95/96 nb, Akademiska Sjukhuset, Uppsala, 09:00 (Swedish)
Available from: 2012-04-04 Created: 2012-03-04 Last updated: 2012-04-19Bibliographically approved

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Wagner, HeleneMelhus, HåkanMichaëlsson, Karl
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