AI Article Synopsis
- Intervertebral disc disease is a prevalent musculoskeletal disorder influenced by environmental, anthropometric, and genetic risk factors.
- A specific sequence variation in the COL9A2 gene was identified in six individuals with the disease, which changes a glutamine codon to a tryptophan codon, but was not found in control subjects.
- The presence of the tryptophan allele showed strong linkage to the disease phenotype in four studied families, with a high lod score indicating a significant genetic association.
Article 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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| http://dx.doi.org/10.1126/science.285.5426.409 | DOI Listing |
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