The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis
Open accessAbstract
Osteoarthritis [MIM 165720] is a common late-onset articular joint disease for which no pharmaceutical intervention is available to attenuate the cartilage degeneration. To identify a new osteoarthritis susceptibility locus, a genome-wide linkage scan and combined linkage association analysis were applied to 179 affected siblings and four trios with generalized osteoarthritis (The GARP study). We tested, for confirmation by association, 1478 subjects who required joint replacement and 734 controls in a UK population. Additional replication was tested in 1582 population-based females from the Rotterdam study that contained 94 cases with defined hip osteoarthritis and in 267 Japanese females with symptomatic hip osteoarthritis and 465 controls. Suggested evidence for linkage in the GARP study was observed on chromosome 14q32.11 (log of odds = 3.03, P = 1.9 x 10(-4)). Genotyping tagging single-nucleotide polymorphisms covering three important candidate genes revealed a common coding variant (rs225014; Thr92Ala) in the iodothyronine-deiodinase enzyme type 2 (D2) gene (DIO2 [MIM 601413]) which significantly explained the linkage signal (P = 0.006). Confirmation and replication by association in the additional osteoarthritis studies indicated a common DIO2 haplotype, exclusively containing the minor allele of rs225014 and common allele of rs12885300, with a combined recessive odds ratio of 1.79, 95% confidence interval (CI) 1.37-2.34 with P = 2.02 x 10(-5) in female cases with advanced/symptomatic hip osteoarthritis. The gene product of this DIO2 converts intracellular pro-hormone-3,3',5,5'-tetraiodothyronine (T4) into the active thyroid hormone 3,3',5-triiodothyronine (T3) thereby regulating intracellular levels of active T3 in target tissues such as the growth plate. Our results indicate a new susceptibility gene (DIO2) conferring risk to osteoarthritis.
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Cites
Quantitative Synthesis in Systematic Reviews
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“The heterogeneity was quantified using the I(2) statistic for inconsistency (48) and its statistical significance was tested with the x(2)-distributed Cochran Q statistic (49).”
MethodSkol, A. D., Scott, L. J., Abecasis, G. R., & Boehnke, M. (2006) · Nature Genetics · doi:10.1038/ng1706 · Cited by 1,286
Deiodinases: implications of the local control of thyroid hormone action
Bianco, A. C., & Kim, B. W. (2006) · Journal of Clinical Investigation · doi:10.1172/jci29812 · Cited by 845
The molecular actions of thyroid hormone in bone
Duncan Bassett, J. H., & Williams, G. R. (2003) · Trends in Endocrinology & Metabolism · doi:10.1016/s1043-2760(03)00144-9 · Cited by 261
Dentice, M., Bandyopadhyay, A., Gereben, B., Callebaut, I., Christoffolete, M. A., Kim, B. W., Nissim, S., Mornon, J.-P., Zavacki, A. M., Zeöld, A., et al. (2005) · Nature Cell Biology · doi:10.1038/ncb1272 · Cited by 227
Peeters, R. P., van den Beld, A. W., Attalki, H., Toor, H. V., de Rijke, Y. B., Kuiper, G. G. J. M., Lamberts, S. W. J., Janssen, J. A. M. J. L., Uitterlinden, A. G., & Visser, T. J. (2005) · American Journal of Physiology-Endocrinology and Metabolism · doi:10.1152/ajpendo.00571.2004 · Cited by 108
Self-citationCharacterization of the Nuclear Factor-κB Responsiveness of the Human dio2 Gene
Zeöld, A., Doleschall, M., Haffner, M. C., Capelo, L. P., Menyhért, J., Liposits, Z., da Silva, W. S., Bianco, A. C., Kacskovics, I., Fekete, C., et al. (2006) · Endocrinology · doi:10.1210/en.2005-1608 · Cited by 72
Cited by
Jonklaas, J., Bianco, A. C., Bauer, A. J., Burman, K. D., Cappola, A. R., Celi, F. S., Cooper, D. S., Kim, B. W., Peeters, R. P., Rosenthal, M. S., et al. (2014) · Thyroid® · doi:10.1089/thy.2014.0028 · Cited by 1,928
“Subsequently, this polymorphism has been associated with various phenotypes including mental retardation (507), hypertension (508), osteoarthritis (509), accelerated bone turnover (510), and response to lung injury (511), although subsequent studies could not confirm the associations with hypertension (512).”
Cellular and Molecular Basis of Deiodinase-Regulated Thyroid Hormone Signaling1
Gereben, B., Zavacki, A. M., Ribich, S., Kim, B. W., Huang, S. A., Simonides, W. S., Zeöld, A., & Bianco, A. C. (2008) · Endocrine Reviews · doi:10.1210/er.2008-0019 · Cited by 891
Role of Thyroid Hormones in Skeletal Development and Bone Maintenance
Bassett, J. H. D., & Williams, G. R. (2016) · Endocrine Reviews · doi:10.1210/er.2015-1106 · Cited by 540
535 East 70th Street, C. R. B., Goldring, M., Otero, M., Plumb, D., Dragomir, C., Favero, M., EI Hachem, K., Hashimoto, K., Roach, H., Olivotto, E., et al. (2011) · European Cells and Materials · doi:10.22203/ecm.v021a16 · Cited by 489
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
Boer, C. G., Hatzikotoulas, K., Southam, L., Stefánsdóttir, L., Zhang, Y., Coutinho de Almeida, R., Wu, T. T., Zheng, J., Hartley, A., Teder-Laving, M., et al. (2021) · Cell · doi:10.1016/j.cell.2021.07.038 · Cited by 434
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Metadata
- Authors
- Meulenbelt, I., Min, J. L., Bos, S., Riyazi, N., Houwing-Duistermaat, J. J., van der Wijk, H.-J., Kroon, H. M., Nakajima, M., Ikegawa, S., Uitterlinden, A. G., van Meurs, J. B. J., van der Deure, W. M., Visser, T. J., Seymour, A. B., Lakenberg, N., van der Breggen, R., Kremer, D., van Duijn, C. M., Kloppenburg, M., Loughlin, J., & Slagboom, P. E.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-03-11
- Volume
- 17
- Issue
- 12
- Pages
- 1867-1875
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2134734149
- Cited by
- 206
- References
- 7
- FWCI
- 13.61
- Type
- journal article
- Language
- en
- Open access
- green
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- Meulenbelt, I., Min, J. L., Bos, S., Riyazi, N., Houwing-Duistermaat, J. J., van der Wijk, H.-J., Kroon, H. M., Nakajima, M., Ikegawa, S., Uitterlinden, A. G., van Meurs, J. B. J., van der Deure, W. M., Visser, T. J., Seymour, A. B., Lakenberg, N., van der Breggen, R., Kremer, D., van Duijn, C. M., Kloppenburg, M., . . . Slagboom, P. E. (2008). Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddn082
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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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