The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease
Abstract
CONTEXT: Lumbar disk disease (LDD) is one of the most common musculoskeletal diseases, with a prevalence of about 5%. A tryptophan (Trp) allele (Trp2) was recently discovered in the COL9A2 gene that is associated with dominantly inherited LDD but is only present in about 4% of Finnish patients with LDD. OBJECTIVE: To determine if other collagen IX gene sequence variations play a role in the pathogenesis of LDD. DESIGN AND SETTING: Case-control study conducted from February 1997 to May 1998 at university hospitals in Finland. PARTICIPANTS: A total of 171 individuals with LDD (evaluated clinically and by magnetic resonance imaging or computed tomography) and 321 controls without LDD (186 healthy individuals, 83 patients with primary osteoarthritis, 31 with rheumatoid arthritis, and 21 with chondrodysplasias). MAIN OUTCOME MEASURES: Frequencies of sequence variations covering the entire coding sequences and exon boundaries of the collagen IX genes, COL9A1, COL9A2, and COL9A3, which code for the alpha1, alpha2, and alpha3 chains of the protein, detected by conformation-sensitive gel electrophoresis and confirmed by sequencing, compared between individuals with and without LDD. RESULTS: Mutation analysis of all 3 collagen IX genes resulted in identification of an Arg103-->Trp (arginine-->tryptophan) substitution in the alpha3 chain (Trp3 allele). The frequency of the Trp3 allele was 12.2% in LDD cases, excluding 7 individuals who were carriers of the previously identified Gln326-->Trp (glutamine-->tryptophan) substitution in the alpha2 chain (Trp2 allele), and was 4.7% among controls. The difference in the frequency was statistically significant (P =.000013). Presence of at least 1 Trp3 allele increases risk of LDD about 3-fold. CONCLUSION: This study led to the identification of a novel common genetic risk factor for LDD, confirming that genetic risk factors likely play a significant role in LDD.
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Arnett, F. C., Edworthy, S. M., Bloch, D. A., Mcshane, D. J., Fries, J. F., Cooper, N. S., Healey, L. A., Kaplan, S. R., Liang, M. H., Luthra, H. S., et al. (1988) · Arthritis & Rheumatism · doi:10.1002/art.1780310302 · Cited by 19,752
Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L., & Pericak-Vance, M. A. (1993) · Science · doi:10.1126/science.8346443 · Cited by 9,429
Magnetic Resonance Imaging of the Lumbar Spine in People without Back Pain
Jensen, M. C., Brant-Zawadzki, M. N., Obuchowski, N., Modic, M. T., Malkasian, D., & Ross, J. S. (1994) · New England Journal of Medicine · doi:10.1056/nejm199407143310201 · Cited by 2,402
Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease
Corder, E. H., Saunders, A. M., Risch, N. J., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Rimmler, J. B., Locke, P. A., Conneally, P. M., Schmader, K. E., et al. (1994) · Nature Genetics · doi:10.1038/ng0694-180 · Cited by 1,920
COLLAGENS: Molecular Biology, Diseases, and Potentials for Therapy
Prockop, D. J., & Kivirikko, K. I. (1995) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.64.070195.002155 · Cited by 1,623
A genome-wide search for human type 1 diabetes susceptibility genes
Davies, J. L., Kawaguchi, Y., Bennett, S. T., Copeman, J. B., Cordell, H. J., Pritchard, L. E., Reed, P. W., Gough, S. C. L., Jenkins, S. C., Palmer, S. M., et al. (1994) · Nature · doi:10.1038/371130a0 · Cited by 1,276
The Nottingham health profile: Subjective health status and medical consultations
Hunt, S. M., McKenna, S. P., McEwen, J., Williams, J., & Papp, E. (1981) · Social Science & Medicine. Part A: Medical Psychology & Medical Sociology · doi:10.1016/0271-7123(81)90005-5 · Cited by 1,093
Battié, M. C., Videman, T., Gibbons, L. E., Fisher, L. D., Manninen, H., & Gill, K. (1995) · Spine · doi:10.1097/00007632-199512150-00001 · Cited by 557
An International Comparison of Back Surgery Rates
Cherkin, D. C., Deyo, R. A., Loeser, J. D., Bush, T., & Waddell, G. (1994) · Spine · doi:10.1097/00007632-199405310-00001 · Cited by 412
Periradicular Infiltration for Sciatica: A Randomized Controlled Trial
Karppinen, J., Malmivaara, A., Kurunlahti, M., Kyllönen, E., Pienimäki, T., Nieminen, P., Ohinmaa, A., Tervonen, O., & Vanharanta, H. (2001) · Spine · doi:10.1097/00007632-200105010-00015 · Cited by 410
Cited by
Adams, M. A. (2004) · Acupuncture in Medicine · doi:10.1136/aim.22.4.178 · Cited by 578
Lumbar Degenerative Disk Disease
Modic, M. T., & Ross, J. S. (2007) · Radiology · doi:10.1148/radiol.2451051706 · Cited by 499
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
The Twin Spine Study: Contributions to a changing view of disc degeneration†
Battié, M. C., Videman, T., Kaprio, J., Gibbons, L. E., Gill, K., Manninen, H., Saarela, J., & Peltonen, L. (2009) · The Spine Journal · doi:10.1016/j.spinee.2008.11.011 · Cited by 367
The pathophysiology of disc degeneration: A CRITICAL REVIEW
Hadjipavlou, A. G., Tzermiadianos, M. N., Bogduk, N., & Zindrick, M. R. (2008) · The Journal of Bone and Joint Surgery. British volume · doi:10.1302/0301-620x.90b10.20910 · Cited by 365
Metadata
- Authors
- Paassilta, P.
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2001-04-11
- Volume
- 285
- Issue
- 14
- Pages
- 1843
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- OpenAlex
- W2098102950
- Cited by
- 289
- References
- 36
- FWCI
- 11.21
- Type
- journal article
- Language
- en
- Open access
- closed
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