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Genetics of osteoporosis
1Bone and Mineral Research Program, St. Vincent's Hospital, Sydney, New South Wales, Australia. j.eisman@garvan.unsw.edu.au
Endocrine Reviews
|December 22, 1999
Summary
Genetic factors significantly influence bone health, explaining ~70% of bone phenotype variance. Understanding gene-environment interactions is key for future osteoporosis treatments.
Area of Science:
- Genetics
- Bone Biology
- Osteoporosis Research
Background:
- Genetic factors account for approximately 70% of bone phenotype variance.
- Hormonal, dietary, and lifestyle factors interact with genetic predispositions.
- Early research implicated Vitamin D Receptor (VDR) gene polymorphisms in bone health.
Purpose of the Study:
- To review the genetic basis of bone phenotype.
- To highlight key genes and chromosomal loci associated with bone density and turnover.
- To discuss the role of gene-environment interactions in osteoporosis.
Main Methods:
- Review of genetic studies on bone phenotype.
- Analysis of associations between gene polymorphisms and bone parameters.
- Consideration of genome scan approaches and mouse models.
Main Results:
- Common allelic variations in VDR, Collagen I alpha 1, estrogen receptor, and others are linked to bone density.
- Chromosomal loci, such as 11q 12-13, are associated with bone phenotypes.
- Variability in genetic findings suggests gene-gene and gene-environment interactions are crucial.
Conclusions:
- Genetic heterogeneity and environmental factors (e.g., calcium, vitamin D) must be considered in gene discovery.
- Future research should focus on gene-gene and gene-environment interactions for targeted osteoporosis therapies.
- Understanding molecular physiology of gene effects will enable personalized pharmacogenetics.