04 July 2012

New "osteoarthritis genes"

British scientists have found the DNA sites responsible for osteoarthritis

Copper newsScientists from the University of Newcastle, as a result of a large-scale study, were able to identify eight new DNA sites responsible for the development of osteoarthritis, thereby confirming the strength of the hereditary factor in the development of this disease.

Previously, three areas of the genetic code responsible for osteoarthritis were identified.

As part of the study, the results of which were published on July 3 in The Lancet (Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study), a comparative DNA analysis of 7,410 British-born patients with severe osteoarthritis, 80 percent of whom underwent joint replacement surgery, and 11 009 healthy Britons from the control group.

After identifying the most "suspicious" areas of the genetic code, the authors conducted a re-analysis based on data obtained during independent studies in Iceland, Estonia, the Netherlands and the UK. They were attended by 7,473 osteoarthritis patients and almost 43 thousand citizens who do not suffer from this disease.

As a result, five DNA segments strictly associated with osteoarthritis and three less involved sites were identified. Most of all, as the researchers found out, a mutation on a segment of chromosome 3 in the region of the GNL3 gene encoding the production of the nucleostemin protein, which plays a key role in the process of cellular metabolism, is responsible for the development of this disease.

Other involved sites were found on chromosome 9, chromosome 6 and two segments on chromosome 12. All of them are involved in the processes of regeneration of cartilage and bone tissue, as well as in the regulation of body weight. Obesity, as the authors of the study note, is one of the risk factors for osteoarthritis.

Professor John Loughlin, who led the group of researchers, called the results of his group's work "an extremely important first step" towards understanding the genetic nature of osteoarthritis, thanks to which it will be possible to create an adequate therapy for this disease in the future. "We knew before that osteoarthritis is transmitted from generation to generation, and it depends on genes, not on the environment. But thanks to our research, for the first time we can say with a high degree of probability in which parts of the genome the threat of developing this disease lies," the scientist is quoted by BBC Health (More genetic links to osteoarthritis uncovered).

Osteoarthritis, which mainly affects elderly people, is manifested by degeneration of articular cartilage, which serves as a protective pad in the joint, reducing friction and performing a cushioning function.

Osteoarthritis mainly affects the knees, hip joints and hand joints. Due to the aging of the population, the number of UK residents suffering from this disease is expected to double in the next 20 years and reach 17 million people by 2030.

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