Endocrinology Medical News about VPS13B, Osteoporosis, BMD

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Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians
Osteoporosis International, 08/19/09

Deng FY et al. – Study reports that VPS13B gene, via affecting bone mineral density (BMD) and femoral neck cross-sectional geometric parameters (FNCSGPs), is a novel osteoporosis risk gene.

Methods

Study aims to identify DNA copy number variations (CNVs) associated with BMD and FNCSGPs
Genome-wide CNV association analyses were conducted in 1,000 unrelated Caucasian subjects for:
- BMD at the spine, hip, femoral neck, and
- 3 FNCSGPs cortical thickness (CT), cross-section area (CSA), and buckling ratio (BR)
BMD was measured by DEXA
CT, CSA, and BR were estimated using DEXA measurements
Affymetrix 500K arrays and copy number analysis tool was used to identify CNVs

Results

A CNV in VPS13B gene was associated with spine, hip and FN BMDs, and CT, CSA, and BR
Carriers of 1 copy of CNV vs 2 copies, had an average of:
- 14.6%, 12.4%, and 13.6% higher spine, hip, and FN BMD
- 20.0% thicker CT
- 10.6% larger CSA, and
- 12.4% lower BR
Thus, a decrease of the CNV consistently produced stronger bone, thereby reducing osteoporotic fracture risk

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