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Genetic liability to fractures in the elderly
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences. (Ortopedi)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Clinical Pharmacogenetics and Osteoporosis)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Surgical Sciences. (Ortopedi)
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2005 (English)In: Archives of Internal Medicine, ISSN 0003-9926, E-ISSN 1538-3679, Vol. 165, no 16, 1825-30 p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: The genetic impact on the causation of osteoporotic fractures is unclear. A large twin study is ideally suited to determine the genetic liability to categories of fracture at various ages. METHODS: A cohort of all 33 432 Swedish twins born from 1896 to 1944 was used to evaluate the genetic liability to fracture occurrence in the elderly. The Swedish Inpatient Registry and computer-assisted telephone interviews enabled us to identify 6021 twins with any fracture, 3599 with an osteoporotic fracture, and 1055 with a hip fracture after the age of 50 years. RESULTS: Genetic variation in liability to fracture differed considerably by type of fracture and age. Less than 20% of the overall age-adjusted fracture variance was explained by genetic variation. The age-adjusted heritability of any osteoporotic fracture was slightly greater (0.27; 95% confidence interval [CI], 0.09-0.28), and for hip fracture alone, it was 0.48 (95% CI, 0.28-0.57). Heritability was not attenuated after further adjustment for several known osteoporotic covariates but was considerably greater for first hip fractures before the age of 69 years (0.68; 95% CI, 0.41-0.78) and between 69 and 79 years (0.47; 95% CI, 0.04-0.62) than for hip fractures after 79 years of age (0.03; 95% CI, 0.00-0.26). CONCLUSIONS: The importance of genetic factors in propensity to fractures depends on fracture site and age. The search for susceptibility genes and environmental factors that may modulate expression of these genes in younger elderly patients with hip fracture, the most devastating osteoporotic fracture, should be encouraged. Prevention of fractures in the oldest elderly should focus on lifestyle interventions.

Place, publisher, year, edition, pages
2005. Vol. 165, no 16, 1825-30 p.
Keyword [en]
Age Factors, Aged, Aged; 80 and over, Female, Genetic Predisposition to Disease, Hip Fractures/etiology/*genetics, Humans, Male, Middle Aged, Osteoporosis/*complications, Questionnaires, Registries, Research Support; N.I.H.; Extramural, Research Support; Non-U.S. Gov't, Research Support; U.S. Gov't; P.H.S., Risk Factors, Sweden, Variation (Genetics)
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-75838PubMedID: 16157825OAI: oai:DiVA.org:uu-75838DiVA: diva2:103749
Available from: 2007-03-08 Created: 2007-03-08 Last updated: 2012-04-19Bibliographically 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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