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Osteoarthritis genes unveiled

Tuesday January 22nd, 2019

Fifty-two new genetic changes linked to osteoarthritis have been discovered in the largest genetic study of the degenerative joint disease to date, it was announced last night.

The findings of the study, which are published in Nature Genetics, doubles the number of genetic regions associated with osteoarthritis, and could help with the development of new medicines.

Scientists at the Wellcome Sanger Institute, GSK and their collaborators analysed patient data from the UK Biobank resource and the arcOGEN study to examine the genomes of 370,000 healthy people and more than 77,000 people with osteoarthritis.

The team incorporated additional functional genomic data and measured gene expression down to the protein level, as well as integrated genetic and proteomic data on tissue taken from patients undergoing joint replacement surgery.

Ten of the genes were highlighted as targets of existing drugs, which are either in clinical development or approved for use against osteoarthritis and other diseases. These include INVOSSA, which is registered for knee osteoarthritis, and LCL-161, a drug in clinical development for the treatment of breast cancer, leukaemia and myeloma.

Professor Eleftheria Zeggini, previously from the Wellcome Sanger Institute and now based at Helmholtz Zentrum München in Germany, said: “This is a major step forward in developing treatments to help the millions of people suffering from the disease.”

Dr Stephen Simpson, director of research at Versus Arthritis, who supported the arcOGEN study, added: “This study represents a hugely important milestone towards understanding the complexity of osteoarthritis and finding new treatments and we are delighted that our support for the arcOGEN study has helped deliver this. In the long term, the research progresses us significantly on the journey to ending the pain, isolation and fatigue of those living with arthritis.”

Tachmazidou I et al. Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. Nature Genetics 21 January 2018; doi: 10.1038/s41588-018-0327-1

Tags: Genetics | Rheumatology | UK News

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