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CYP2C9 genotype and association with bone mineral density: a pilot study
Sophie Brunner-Ziegler1, Georgiana-Aura Giurgea, Raute Sunder-Plassmann
1Division of Angiology, Department of Internal Medicine II, Medical University of Vienna, Vienna, Austria. sophie.ziegler@meduniwien.ac.at
Gene
|June 5, 2013
Summary
Genetic variations in the cytochrome P450 2C9 (CYP2C9) gene are linked to reduced bone mineral density (BMD) and osteoporosis. Specific CYP2C9 variants were associated with lower femoral BMD and increased osteoporosis risk in elderly patients.
Area of Science:
- Genetics
- Bone Metabolism
- Pharmacogenomics
Background:
- Reduced bone mineral density (BMD) and osteoporosis are significant public health concerns.
- Single nucleotide polymorphisms (SNPs) in the cytochrome P450 2C9 (CYP2C9) gene affect oral anticoagulant drug response.
- Oral anticoagulants are associated with an increased risk of developing osteoporosis.
Purpose of the Study:
- To investigate the potential role of CYP2C9 sequence variations in osteoporosis susceptibility.
- To clarify the association between CYP2C9 genotypes and bone mineral density.
Main Methods:
- Ninety-two angiologic outpatients without secondary bone loss causes were genotyped.
- Bone mineral density (BMD) was assessed using dual-energy X-ray absorptiometry (DXA).
- Patients were classified according to WHO criteria for normal BMD, osteopenia, and osteoporosis.
Main Results:
- 59% of patients had reduced BMD; 15% carried CYP2C9*2, 14% CYP2C9*3 variants.
- Patients with CYP2C9 mutations had significantly lower femoral neck BMD.
- Individuals with CYP2C9 mutations showed a four-fold higher adjusted risk of reduced BMD (p=0.02).
Conclusions:
- CYP2C9*2 and CYP2C9*3 variants are associated with reduced femoral BMD in an elderly Austrian population.
- These genetic variants may contribute to the complex risk of developing osteoporosis.
- The link between oral anticoagulants, CYP2C9 variations, and osteoporosis may involve the glucocorticoid synthesis pathway.
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