An allele of COL9A2 associated with intervertebral disc disease.
Publication/Presentation Date
7-16-1999
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.
Volume
285
Issue
5426
First Page
409
Last Page
412
ISSN
0036-8075
Published In/Presented At
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., Ott, J., Prockop, D. J., & Ala-Kokko, L. (1999). An allele of COL9A2 associated with intervertebral disc disease. Science (New York, N.Y.), 285(5426), 409–412. https://doi.org/10.1126/science.285.5426.409
Disciplines
Medicine and Health Sciences
PubMedID
10411504
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article