ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2010
Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- Aromatase inhibitor-associated bone fractures: a case-cohort GWAS and functional genomics.Molecular endocrinology (Baltimore, Md.) · 2014Trial
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- Gender-specific SBNO2 and VPS13B as a potential driver of osteoporosis development in male ankylosing spondylitis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Article
- A look behind the scenes: the risk and pathogenesis of primary osteoporosis.Nature reviews. Rheumatology · 2015Review
- Identifying Human Genome-Wide CNV, LOH and UPD by Targeted Sequencing of Selected Regions.PloS one · 2014Article
- Article
- Identification of both copy number variation-type and constant-type core elements in a large segmental duplication region of the mouse genome.BMC genomics · 2013Article
- Genome-wide approaches for identifying genetic risk factors for osteoporosis.Genome medicine · 2013Review
- Copy number variation of the APC gene is associated with regulation of bone mineral density.Bone · 2012Article
- Genome-wide copy number variation association analyses for age at menarche.The Journal of clinical endocrinology and metabolism · 2012Article
- Clinical review: Genome-wide association studies of skeletal phenotypes: what we have learned and where we are headed.The Journal of clinical endocrinology and metabolism · 2012Review
- Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.CNS & neurological disorders drug targets · 2012Review
- Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.Bioinformatics (Oxford, England) · 2011Article
- The genetics of bone loss: challenges and prospects.The Journal of clinical endocrinology and metabolism · 2011Review
- Article
- Runs of homozygosity identify a recessive locus 12q21.31 for human adult height.The Journal of clinical endocrinology and metabolism · 2010Article
- CONAN: copy number variation analysis software for genome-wide association studies.BMC bioinformatics · 2010Article
- Genetics of osteoporosis: accelerating pace in gene identification and validation.Human genetics · 2010Review
- Future of osteoporosis genetics: enhancing genome-wide association studies.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2009Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
unlabelledOsteoporotic fracture (OF) is a serious outcome of osteoporosis. Important risk factors for OF include reduced bone mineral density and unstable bone structure. This genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians.
introductionBone mineral density (BMD) and femoral neck cross-sectional geometric parameters (FNCSGPs) are under strong genetic control. DNA copy number variation (CNV) is an important source of genetic diversity for human diseases. This study aims to identify CNVs associated with BMD and FNCSGPs.
methodsGenome-wide CNV association analyses were conducted in 1,000 unrelated Caucasian subjects for BMD at the spine, hip, femoral neck, and for three FNCSGPs -cortical thickness (CT), cross-section area (CSA), and buckling ratio (BR). BMD was measured by dual energy X-ray absorptiometry (DEXA). CT, CSA, and BR were estimated using DEXA measurements. Affymetrix 500K arrays and copy number analysis tool was used to identify CNVs.
resultsA CNV in VPS13B gene was significantly associated with spine, hip and FN BMDs, and CT, CSA, and BR (p < 0.05). Compared to subjects with two copies of the CNV, carriers of one copy 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.
conclusionsVPS13B gene, via affecting BMD and FNCSGPs, is a novel osteoporosis risk gene.
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