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An Allele of COL9A2 Associated with Intervertebral Disc Disease
Abstract
Intervertebral disc disease is one of the most common musculoskeletal disorders. A number of environmental and anthropometric risk factors may contribute to it, and recent reports have suggested the importance of genetic factors as well. The COL9A2 gene, which codes for one of the polypeptide chains of collagen IX that is expressed in the intervertebral disc, was screened for sequence variations in individuals with intervertebral disc disease. The analysis identified a putative disease-causing sequence variation that converted a codon for glutamine to one for tryptophan in six out of the 157 individuals but in none of 174 controls. The tryptophan allele cosegregated with the disease phenotype in the four families studied, giving a lod score (logarithm of odds ratio) for linkage of 4.5, and subsequent linkage disequilibrium analysis conditional on linkage gave an additional lod score of 7.1.
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Cited by
Cheung, K. M. C., Karppinen, J., Chan, D., Ho, D. W. H., Song, Y.-Q., Sham, P., Cheah, K. S. E., Leong, J. C. Y., & Luk, K. D. K. (2009) · Spine · doi:10.1097/brs.0b013e3181a01b3f · Cited by 867
Self-citationCollagens and collagen-related diseases
Myllyharju, J., & Kivirikko, K. I. (2001) · Annals of Medicine · doi:10.3109/07853890109002055 · Cited by 756
Lumbar Degenerative Disk Disease
Modic, M. T., & Ross, J. S. (2007) · Radiology · doi:10.1148/radiol.2451051706 · Cited by 499
The cellular pathobiology of the degenerate intervertebral disc and discogenic back pain
Freemont, A. J. (2008) · Rheumatology · doi:10.1093/rheumatology/ken396 · Cited by 485
Jensen, T. S., Karppinen, J., Sorensen, J. S., Niinimäki, J., & Leboeuf-Yde, C. (2008) · European Spine Journal · doi:10.1007/s00586-008-0770-2 · Cited by 470
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Metadata
- Authors
- Annunen, S., Paassilta, P., Lohiniva, J., Perälä, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kröger, H., Lähde, S., Vanharanta, H., Ryhänen, L., Göring, H. H. H., Ott, J., Prockop, D. J., & Ala-Kokko, L.
- Venue
- Science
- Published
- 1999-07-16
- Volume
- 285
- Issue
- 5426
- Pages
- 409-412
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2129465868
- Cited by
- 359
- References
- 0
- FWCI
- 9.29
- Type
- journal article
- Language
- en
- Open access
- closed
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- Annunen, S., Paassilta, P., Lohiniva, J., Perälä, M., Pihlajamaa, T., Karppinen, J., Tervonen, O., Kröger, H., Lähde, S., Vanharanta, H., Ryhänen, L., Göring, H. H. H., Ott, J., Prockop, D. J., & Ala-Kokko, L. (1999). An Allele of COL9A2 Associated with Intervertebral Disc Disease. Science. https://doi.org/10.1126/science.285.5426.409
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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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