The DOI matches its Crossref record; 26 of the 26 references it cites were found in a registry or an index.
A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality
Open accessAbstract
Osteoporosis is a common disease with a strong genetic component. We previously described a polymorphic Sp1 binding site in the COL1A1 gene that has been associated with osteoporosis in several populations. Here we explore the molecular mechanisms underlying this association. A meta-analysis showed significant associations between COL1A1 "s" alleles and bone mineral density (BMD), body mass index (BMI), and osteoporotic fractures. The association with fracture was stronger than expected on the basis of the observed differences in BMD and BMI, suggesting an additional effect on bone strength. Gel shift assays showed increased binding affinity of the "s" allele for Sp1 protein, and primary RNA transcripts derived from the "s" allele were approximately three times more abundant than "S" allele--derived transcripts in "Ss" heterozygotes. Collagen produced from osteoblasts cultured from "Ss" heterozygotes had an increased ratio of alpha 1(I) protein relative to alpha 2(I), and this was accompanied by an increased ratio of COL1A1 mRNA relative to COL1A2. Finally, the yield strength of bone derived from "Ss" individuals was reduced when compared with bone derived from "SS" subjects. We conclude that the COL1A1 Sp1 polymorphism is a functional genetic variant that predisposes to osteoporosis by complex mechanisms involving changes in bone mass and bone quality.
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Bias in meta-analysis detected by a simple, graphical test
Egger, M., Smith, G. D., Schneider, M., & Minder, C. (1997) · BMJ · doi:10.1136/bmj.315.7109.629 · Cited by 56,722
Professor Kanis, J. A., Melton, L. J., Christiansen, C., Johnston, C. C., & Khaltaev, N. (1994) · Journal of Bone and Mineral Research · doi:10.1002/jbmr.5650090802 · Cited by 3,849
Marshall, D., Johnell, O., & Wedel, H. (1996) · BMJ · doi:10.1136/bmj.312.7041.1254 · Cited by 3,709
Grant, S. F. A., Reid, D. M., Blake, G., Herd, R., Fogelman, I., & Ralston, S. H. (1996) · Nature Genetics · doi:10.1038/ng1096-203 · Cited by 625
Self-citationContact pressures in the human hip joint measured in vivo.
Hodge, W. A., Fijan, R. S., Carlson, K. L., Burgess, R. G., Harris, W. H., & Mann, R. W. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.9.2879 · Cited by 623
Li, B., & Dr. Aspden, R. M. (1997) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.1997.12.4.641 · Cited by 457
Self-citationRoschger, P., Fratzl, P., Eschberger, J., & Klaushofer, K. (1998) · Bone · doi:10.1016/s8756-3282(98)00112-4 · Cited by 456
Uitterlinden, A. G., Burger, H., Huang, Q., Yue, F., McGuigan, F. E. A., Grant, S. F. A., Hofman, A., van Leeuwen, J. P. T. M., Pols, H. A. P., & Ralston, S. H. (1998) · New England Journal of Medicine · doi:10.1056/nejm199804093381502 · Cited by 422
Self-citationChipman, S. D., Sweet, H. O., McBride, D. J., Davisson, M. T., Marks, S. C., Shuldiner, A. R., Wenstrup, R. J., Rowe, D. W., & Shapiro, J. R. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.5.1701 · Cited by 345
Role of genetic factors in the pathogenesis of osteoporosis
Stewart, T., & Ralston, S. (2000) · Journal of Endocrinology · doi:10.1677/joe.0.1660235 · Cited by 231
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The role of collagen in bone strength
Viguet-Carrin, S., Garnero, P., & Delmas, P. D. (2006) · Osteoporosis International · doi:10.1007/s00198-005-2035-9 · Cited by 1,047
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Liu, Y., Luo, D., & Wang, T. (2016) · Small · doi:10.1002/smll.201600626 · Cited by 482
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Hattersley, A. T., & McCarthy, M. I. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67531-9 · Cited by 470
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Metadata
- Authors
- Mann, V., Hobson, E. E., Li, B., Stewart, T. L., Grant, S. F. A., Robins, S. P., Aspden, R. M., & Ralston, S. H.
- Venue
- Journal of Clinical Investigation
- Published
- 2001-04-01
- Volume
- 107
- Issue
- 7
- Pages
- 899-907
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2076440836
- Cited by
- 462
- References
- 26
- FWCI
- 27.30
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Mann, V., Hobson, E. E., Li, B., Stewart, T. L., Grant, S. F. A., Robins, S. P., Aspden, R. M., & Ralston, S. H. (2001). A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. Journal of Clinical Investigation. https://doi.org/10.1172/jci10347
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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