Journal article
An Allele of COL9A2 Associated with Intervertebral Disc Disease
Science (American Association for the Advancement of Science), v 285(5426), pp 409-412
16 Jul 1999
PMID: 10411504
Featured in Collection : UN Sustainable Development Goals @ Drexel
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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Details
- Title
- An Allele of COL9A2 Associated with Intervertebral Disc Disease
- Creators
- Susanna Annunen - Collagen Research Unit, Biocenter and Department of Medical Biochemistry;Petteri Paassilta - Collagen Research Unit, Biocenter and Department of Medical Biochemistry;Jaana Lohiniva - Collagen Research Unit, Biocenter and Department of Medical Biochemistry;Merja Perälä - Collagen Research Unit, Biocenter and Department of Medical Biochemistry;Tero Pihlajamaa - Collagen Research Unit, Biocenter and Department of Medical Biochemistry;Jaro Karppinen - Department of Physical Medicine and Rehabilitation;Osmo Tervonen - Diagnostic Radiology;Heikki Kröger - University of Eastern FinlandSeppo Lähde - Diagnostic Radiology;Heikki Vanharanta - Department of Physical Medicine and Rehabilitation;Lasse Ryhänen - University of OuluHarald H. H. Göring - Columbia UniversityJürg Ott - Columbia UniversityDarwin J. Prockop - Drexel University, Medical College of Pennsylvania and Hahnemann University (1993-1996, 1998-2002)Leena Ala-Kokko - Drexel University, Medical College of Pennsylvania and Hahnemann University (1993-1996, 1998-2002)
- Publication Details
- Science (American Association for the Advancement of Science), v 285(5426), pp 409-412
- Publisher
- American Association for the Advancement of Science (AAAS)
- Number of pages
- 4
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Medical College of Pennsylvania and Hahnemann University (1993-1996, 1998-2002)
- Web of Science ID
- WOS:000081465900055
- Scopus ID
- 2-s2.0-0033575339
- Other Identifier
- 991019168721504721
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- Collaboration types
- Domestic collaboration
- International collaboration
- Web of Science research areas
- Biochemistry & Molecular Biology