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Science 16 July 1999:
Vol. 285. no. 5426, pp. 409 - 412
DOI: 10.1126/science.285.5426.409
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Reports

An Allele of COL9A2 Associated with Intervertebral Disc Disease

Susanna Annunen, 1 Petteri Paassilta, 1 Jaana Lohiniva, 1 Merja Perälä, 1 Tero Pihlajamaa, 1 Jaro Karppinen, 2 Osmo Tervonen, 3 Heikki Kröger, 5 Seppo Lähde, 3 Heikki Vanharanta, 2 Lasse Ryhänen, 4 Harald H. H. Göring, 6 Jürg Ott, 67 Darwin J. Prockop, 8 Leena Ala-Kokko 18*

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.

1 Collagen Research Unit, Biocenter and Department of Medical Biochemistry;
2 Department of Physical Medicine and Rehabilitation;
3 Diagnostic Radiology;
4 Internal Medicine, University of Oulu, 90220 Oulu, Finland.
5 Department of Surgery, University of Kuopio, 70211 Kuopio, Finland.
6 Department of Genetics and Development, Columbia University, New York, NY 10032, USA.
7 Laboratory of Statistical Genetics, Rockefeller University, New York, NY 10021, USA.
8 Center for Gene Therapy, MCP Hahnemann University, Philadelphia, PA 19102, USA.
*   To whom correspondence should be addressed (in Finland). E-mail: leena.ala-kokko{at}oulu.fi

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