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Gene hunting in primary osteoarthritis

Primary osteoarthritis (OA) has a large genetic component, with heritability estimates of at least 50% for most joint sites. Identifying the genes encoding for OA susceptibility will shed considerable light on the causes of this common debilitating disease and will suggest new avenues for the development of novel therapeutics. My group is actively hunting for OA susceptibility genes. We conducted the first and so far the largest OA genome-wide linkage scan, on over 500 affected sibling pairs ascertained by large-joint replacement surgery. We identified a number of regions of the human genome that harbour OA susceptibility. We have been conducting extensive gene-based association studies within these linkage intervals on a case–control cohort containing more than 2000 individuals, using single nucleotide polymorphisms and microsatellite repeats. We are now beginning to identify the genes that are mutated in OA. Mutations include common missense changes and effects on gene expression. Some of the mutated genes are regulators of chondrocyte development, which implies that an inability of the articular chondrocyte to maintain a prehypertrophic phenotype may be a critical factor in the disease. I report our latest findings within the context of the results from other OA genetic studies.

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Loughlin, J. Gene hunting in primary osteoarthritis. Arthritis Res Ther 5 (Suppl 3), 84 (2003).

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