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Researchers identify third genetic link to osteoarthritis

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Researchers with the Wellcome Trust Sanger Institute have discovered a new gene associated with osteoarthritis — the third to be identified as having such an association, according to a study published in the American Journal of Human Genetics.

The variant associated with the disease, discovered in the gene MCF2L, was found through data provided in part by the 1000 Genomes Project. The preliminary stage of the study compared the genomes of 3,177 people with osteoarthritis against 4,894 people from the general population and examined 600,000 variants.

There were no new genes identified at that level of detail, but the data from the 1000 Genomes Project enabled the researchers to scan for 7.2 million variants.

“By using the 1000 Genomes Project data to add value to our original genome-wide association scan for osteoarthritis, we have uncovered a disease-associated gene that had previously remained hidden,” Eleftheria Zeggini, MD, stated in a Wellcome Trust Sanger Institute release. “We were able to analyze our results in greater detail and zoom in on variants that we hadn’t been able to identify before.”

The newly identified gene is found on chromosome 13 and regulates a nerve growth factor (NGF). Previous findings have noted that patients with osteoarthritis (OA) of the knee who are treated with a humanized monoclonal antibody against NGF experience less pain and show improvement in their movement. The suggestion, the researchers note, is that MCF2L is involved in the development of OA — and could provide a new focus for future research.

To ensure the variant of MCF2L is associated with the development of OA, the team worked with international collaborators to investigate 19,041 patients with arthritis and 25,504 individuals without the condition. A number of centers across Europe collaborated by screening individuals for the newly identified variant to corroborate the association.

"The discovery of this MCF2L variant suggests a possible genetic link to the finding that regulating NGF is important in knee osteoarthritis, and is supported by the fact that the variant is more strongly associated with knee osteoarthritis than hip osteoarthritis in the study," lead author Aaron Day-Williams, MD, stated in the release.

Reference:

• Day-Williams AG, Southam L, Panoutsopoulou K, et al. A variant in MCF2L is associated with osteoarthritis. Am J Hum Genet. 2011 doi: 10.1016/j.ajhg.2011.08.001

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