The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Genetics of Osteoporosis
Open accessAbstract
Osteoporosis is a common disease with a strong genetic component characterized by reduced bone mass, defects in the microarchitecture of bone tissue, and an increased risk of fragility fractures.Twin and family studies have shown high heritability of bone mineral density (BMD) and other determinants of fracture risk such as ultrasound properties of bone, skeletal geometry, and bone turnover.Osteoporotic fractures also have a heritable component, but this reduces with age as environmental factors such as risk of falling come into play.Susceptibility to osteoporosis is governed by many different genetic variants and their interaction with environmental factors such as diet and exercise.Notable successes in identification of genes that regulate BMD have come from the study of rare Mendelian bone diseases characterized by major abnormalities of bone mass where variants of large effect size are operative.Genome-wide association studies have also identified common genetic variants of small effect size that contribute to regulation of BMD and fracture risk in the general population.In many cases, the loci and genes identified by these studies had not previously been suspected to play a role in bone metabolism.Although there has been extensive progress in identifying the genes and loci that contribute to the regulation of BMD and fracture over the past 15 yr, most of the genetic variants that regulate these phenotypes remain to be discovered.(Endocrine Reviews 31: 629 -662, 2010) I. Introduction II.Regulation of Bone Mass and Bone Turnover III.Pathogenesis of Fractures IV.Heritability of Osteoporosis-Related Traits A. Bone mineral density B. Bone loss C. Fracture D. Other phenotypes V. Genetic Architecture of Osteoporosis VI.Single Gene Disorders of Relevance to Osteoporosis A. Osteogenesis imperfecta B. Mendelian osteoporosis syndromes C. High bone mass syndromes D. Osteopetrosis E. Camurati-Engelmann disease VII.Methods for Identifying Osteoporosis Susceptibility Genes A. Linkage analysis B. Candidate gene association studies C. Genome-wide association studies (GWAS) D. Genome-wide sequencing E. Meta-analysis F. Functional studies VIII.Human Linkage Studies IX.Linkage Studies in Model Organisms X. Candidate Genes and GWAS for Osteoporosis A. Loci and genes with significant evidence for association with BMD B. Loci and genes with significant evidence for association with quantitative ultrasound C. Other candidate genes for susceptibility to osteoporosis XI.Gene-Gene Interactions XII.Genetic Determinants of Treatment Response A. Calcium and vitamin D B. Hormone
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Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
Common polygenic variation contributes to risk of schizophrenia and bipolar disorder
The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
Kuro-o, M., Matsumura, Y., Aizawa, H., Kawaguchi, H., Suga, T., Utsugi, T., Ohyama, Y., Kurabayashi, M., Kaname, T., Kume, E., et al. (1997) · Nature · doi:10.1038/36285 · Cited by 3,837
Risk Factors for Hip Fracture in White Women
Cummings, S. R., Nevitt, M. C., Browner, W. S., Stone, K., Fox, K. M., Ensrud, K. E., Cauley, J., Black, D., & Vogt, T. M. (1995) · New England Journal of Medicine · doi:10.1056/nejm199503233321202 · Cited by 3,595
Genome-wide association studies for complex traits: consensus, uncertainty and challenges
McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891
Estrogen Resistance Caused by a Mutation in the Estrogen-Receptor Gene in a Man
Smith, E. P., Boyd, J., Frank, G. R., Takahashi, H., Cohen, R. M., Specker, B., Williams, T. C., Lubahn, D. B., & Korach, K. S. (1994) · New England Journal of Medicine · doi:10.1056/nejm199410203311604 · Cited by 2,471
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Self-citationHundreds of variants clustered in genomic loci and biological pathways affect human height
Lango Allen, H., Estrada, K., Lettre, G., Berndt, S. I., Weedon, M. N., Rivadeneira, F., Willer, C. J., Jackson, A. U., Vedantam, S., Raychaudhuri, S., et al. (2010) · Nature · doi:10.1038/nature09410 · Cited by 1,945
Self-citationLohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., & Hirschhorn, J. N. (2003) · Nature Genetics · doi:10.1038/ng1071 · Cited by 1,900
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New Insights into Monogenic Causes of Osteoporosis
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Genetic determination of the hypothalamic–pituitary–thyroid axis: where do we stand?
Medici, M., Visser, W. E., Visser, T. J., & Peeters, R. P. (2015) · Endocrine Reviews · doi:10.1210/er.2014-1081 · Cited by 92
Bassett, J. H. D., Gogakos, A., White, J. K., Evans, H., Jacques, R. M., van der Spek, A. H., Sanger Mouse Genetics Project, Ramirez-Solis, R., Ryder, E., Sunter, D., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002858 · Cited by 82
Burke, L. M., Ackerman, K. E., Heikura, I. A., Hackney, A. C., & Stellingwerff, T. (2023) · British Journal of Sports Medicine · doi:10.1136/bjsports-2023-107335 · Cited by 59
Stone, T. M., Wingo, J. E., Nickerson, B. S., & Esco, M. R. (2018) · International Journal of Sport Nutrition and Exercise Metabolism · doi:10.1123/ijsnem.2017-0185 · Cited by 17
Panach, L., Serna, E., Tarín, J. J., Cano, A., & García-Pérez, M. Á. (2017) · Osteoporosis International · doi:10.1007/s00198-017-4061-9 · Cited by 13
Hu, J., Zhou, B., Lin, X., Zhang, Q., Guan, F., Sun, L., Liu, J., Wang, O., Jiang, Y., Xia, W.-B., et al. (2023) · eLife · doi:10.7554/elife.80365 · Cited by 6
Metadata
- Authors
- Ralston, S. H., & Uitterlinden, A. G.
- Venue
- Endocrine Reviews
- Publisher
- The Endocrine Society
- Published
- 2010-10-01
- Volume
- 31
- Issue
- 5
- Pages
- 629-662
- ISSN
- 0163-769X (ISSN-L)
- 1945-7189
- OpenAlex
- W2081140214
- Cited by
- 376
- References
- 27
- FWCI
- 25.60
- Type
- journal article
- Language
- en
- Open access
- bronze
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