Original Article
You have full text access to this OnlineOpen article
Genome-wide pleiotropy of osteoporosis-related phenotypes: The framingham study
Article first published online: 29 JAN 2010
DOI: 10.1002/jbmr.38
Copyright © 2010 American Society for Bone and Mineral Research
Additional Information
How to Cite
Karasik, D., Hsu, Y.-H., Zhou, Y., Cupples, L. A., Kiel, D. P. and Demissie, S. (2010), Genome-wide pleiotropy of osteoporosis-related phenotypes: The framingham study. J Bone Miner Res, 25: 1555–1563. doi: 10.1002/jbmr.38
Publication History
- Issue published online: 30 JUN 2010
- Article first published online: 29 JAN 2010
- Manuscript Accepted: 12 JAN 2010
- Manuscript Revised: 18 SEP 2009
- Manuscript Received: 13 FEB 2009
References
- 1, . An estimate of the worldwide prevalence and disability associated with osteoporotic fractures. Osteoporos Int. 2006; 17: 1726–1733.
- 2, , , et al. Femur strength index predicts hip fracture independent of bone density and hip axis length. Osteoporos Int. 2006; 17: 593–599.
- 3, . How to use ultrasound for risk assessment: a need for defining strategies. Osteoporos Int. 1999; 9: 193–195.
- 4, , . Meta-analysis of how well measures of bone mineral density predict occurrence of osteoporotic fractures [see comments]. BMJ. 1996; 312: 1254–1259.
- 5, , , et al. The use of multiple sites for the diagnosis of osteoporosis. Osteoporos Int. 2006; 17: 527–534.
- 6, , , et al. Classification of osteoporosis based on bone mineral densities. J Bone Miner Res. 2001; 16: 901–910.Direct Link:
- 7, , , et al. Prediction of Incident Hip Fracture Risk by Femur Geometry Variables Measured by Hip Structural Analysis in the Study of Osteoporotic Fractures. J Bone Miner Res. 2008; 23: 1892–1904.Direct Link:
- 8
- 9, , , . Genetics of osteoporosis. Endocrine Reviews. 2002; 23: 303–326.
- 10, , , , . Genetic and environmental contributions to the association between quantitative ultrasound and bone mineral density measurements: a twin study. J Bone Miner Res. 1998; 13: 1318–1327.Direct Link:
- 11. Genetic control of susceptibility to osteoporosis. J Clin Endocrinol Metab. 2002; 87: 2460–2466.
- 12, , , et al. A genome wide linkage scan of metacarpal size and geometry in the Framingham Study. Am J Hum Biol. 2008; 20: 663–670.Direct Link:
- 13, , , et al. Relevance of the genes for bone mass variation to susceptibility to osteoporotic fractures and its implications to gene search for complex human diseases. Genet Epidemiol. 2002; 22: 12–25.Direct Link:
- 14, , , , . Risk of wrist fracture in women is heritable and is influenced by genes that are largely independent of those influencing BMD. J Bone Miner Res. 2005; 20: 67–74.Direct Link:
- 15, , , , . Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with osteoporotic vertebral fractures, but is a weak predictor of BMD. Osteoporos Int. 2005; 16: 411–416.
- 16, , , et al. Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk. Hum Mol Genet. 2003; 12: 1745–1754.
- 17, , , et al. New sequence variants associated with bone mineral density. Nat Genet. 2009; 41: 15–17.
- 18, , , et al. For the GEnetic Factors For Osteoporosis (GEFOS) Consortium. Collaborative meta-analysis: Associations of 150 candidate genes with osteoporisis and osteoporotic fracture. Ann Int Med. 2009; 151: 528–537.
- 19, , , , , . Genetic and environmental determinants of volumetric and areal BMD in multi-generational families of African ancestry: the Tobago Family Health Study. J Bone Miner Res. 2007; 22: 527–536.Direct Link:
- 20, , , et al. Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: the Framingham Study. J Bone Miner Res. 2002; 17: 1718–1727.Direct Link:
- 21, , , et al. Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass. J Bone Miner Res. 2007; 22: 173–183.Direct Link:
- 22, , , . Genome screen for a combined bone phenotype using principal component analysis: the Framingham study. Bone. 2004; 34: 547–556.
- 23, , , et al. A bivariate whole genome linkage study identified genomic regions influencing both BMD and bone structure. J Bone Miner Res. 2008; 23: 1806–1814.Direct Link:
- 24, , , et al. A common variant on chromosome 9p21 affects the risk of myocardial infarction. Science. 2007; 316: 1491–1493.
- 25, , , et al. Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science. 2007; 316: 1331–1336.
- 26, , , et al. A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science. 2007; 316: 1341–1345.
- 27, , , et al. A common allele on chromosome 9 associated with coronary heart disease. Science. 2007; 316: 1488–1491.
- 28, . The human phenome project. Nat Genet. 2003; 34: 15–21.
- 29, , , , , . Genome-wide association with bone mass and geometry in the Framingham Heart Study. BMC Med Genet. 2007; 8 (Suppl 1): S14.
- 30, , , et al. Twenty bone mineral density loci identified by large-scale meta-analysis of genome-wide association studies. Nature Genetics. 2009; 41: 1199–1206.
- 31, , , et al. Multiple genetic loci for bone mineral density and fractures. N Engl J Med. 2008; 358: 2355–2365.
- 32, , , , . A text-mining analysis of the human phenome. Eur J Hum Genet. 2006; 14: 535–542.
- 33, , , et al. Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Hum Mol Genet. 2009; 18: 2305–2316.
- 34, , , . Age, gender, and body mass effects on quantitative trait loci for bone mineral density: the Framingham study. Bone. 2003; 33: 308–316.
- 35, . Contribution of gender-specific genetic factors to osteoporosis risk. Ann Hum Genet. 2008; 72: 696–714.Direct Link:
- 36, , , et al. Risk factors for longitudinal bone loss in elderly men and women: the Framingham Osteoporosis Study. J Bone Miner Res. 2000; 15: 710–720.Direct Link:
- 37, , , et al. Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: The Framingham Study. J Bone Miner Res. 2002; 17: 1718–1727.Direct Link:
- 38, , , , , . Proximal hip geometry is linked to several chromosomal regions: Genome-wide linkage results from the Framingham Osteoporosis Study. Bone. 2007; 40: 743–750.
- 39, , , et al. Elderly cohort study subjects unable to return for follow-up have lower bone mass than those who can return. Am J Epidemiol. 2000; 151: 689–692.
- 40, , , et al. In vivo short-term precision of hip structure analysis variables in comparison with bone mineral density using paired dual-energy X-ray absorptiometry scans from multi-center clinical trials. Bone. 2005; 37: 112–121.
- 41, . Some health benefits of physical activity. The Framingham Study. Arch Intern Med. 1979; 139: 857–861.
- 42, , . Robust LOD scores for variance component-based linkage analysis. Genet Epidemiol. 2000; 19 (Suppl 1): S8–14.Direct Link:
- 43, , . Bivariate quantitative trait linkage analysis: pleiotropy versus co- incident linkages. Genet Epidemiol. 1997; 14: 953–958.Direct Link:
- 44, , , . Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. I. Likelihood formulation and simulation results. Am J Hum Genet. 1999; 65: 1134–1147.
- 45, , . The use of measured genotype information in the analysis of quantitative phenotypes in man. I. Models and analytical methods. Ann Hum Genet. 1986; 50: 181–194.Direct Link:
- 46, , , et al. Femoral neck BMD is a strong predictor of hip fracture susceptibility in elderly men and women because it detects cortical bone instability: the Rotterdam Study. J Bone Miner Res. 2007; 22: 1781–1790.Direct Link:
- 47, , , . Women and men with hip fractures have a longer femoral neck moment arm and greater impact load in a sideways fall. Osteoporos Int. 2008; 20: 1151–1156.
- 48, , , , . Differential growth by growth plates as a function of multiple parameters of chondrocytic kinetics. J Orthop Res. 1996; 14: 927–936.Direct Link:
- 49, , , , , . Ablation of the PTHrP gene or the PTH/PTHrP receptor gene leads to distinct abnormalities in bone development. J Clin Invest. 1999; 104: 399–407.
- 50, , , , . The Maka femur and its bearing on the antiquity of human walking: applying contemporary concepts of morphogenesis to the human fossil record. Am J Phys Anthropol. 2002; 119: 97–133.Direct Link:
- 51, . Genetics of the musculoskeletal system: a pleiotropic approach. J Bone Miner Res. 2008; 23: 788–802.Direct Link:
- 52, , , , . The contribution of epistatic pleiotropy to the genetic architecture of covariation among polygenic traits in mice. Evol Dev. 2006; 8: 468–476.Direct Link:
- 53. Personal genomes: The case of the missing heritability. Nature. 2008; 456: 18–21.
- 54. Genetics of complex disease: approaches, problems, and solutions. Am J Respir Crit Care Med. 1997; 156: S103–109.
- 55, , , et al. Phenomics: The systematic study of phenotypes on a genome-wide scale. Neuroscience. 2009; 164: 30–42.
- 56, , , et al. Structural model analysis of multiple quantitative traits. PLoS Genet. 2006; 2: e114.
- 57, , , . The search for genotype/phenotype associations and the phenome scan. Paediatr Perinat Epidemiol. 2005; 19: 264–275.Direct Link:
- 58, . On multiple-testing correction in genome-wide association studies. Genet Epidemiol. 2008; 32: 567–573.Direct Link:
- 59
- 60, , , , , . Multiple phenotype modeling in gene-mapping studies of quantitative traits: power advantages. Am J Hum Genet. 1998; 63: 1190–1201.
- 61, , , . Bivariate combined linkage and association mapping of quantitative trait loci. Genet Epidemiol. 2008; 32: 396–412.Direct Link:

1523-4681/asset/olbannerleft.gif?v=1&s=d7e4c0e37904a489128d3a4e58ba94214db307a9)
1523-4681/asset/olbannerright.gif?v=1&s=854ee0e4d351ead9faaca8bfab3e50b1c7c9d03d)
1523-4681/asset/cover.gif?v=1&s=a8419ff5f302b0d9fefec557d81c0aa9776c60e3)