New Search for the Genetic Basis for Osteoarthritis

For immediate release: December 01, 1999

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It's not difficult to find a family in which generations have struggled with the same inherited disease. One such disease, osteoarthritis, appears to be passed on from one generation to the next. Now a new international multi-center study is underway to identify the genes responsible for osteoarthritis. Understanding this genetic link may help researchers find more effective treatments for the disease.

The University of Maryland Medical Center is part of an international research network that has launched the largest study ever to find the genetic susceptibility for osteoarthritis, which affects more than 21 million Americans. The research network is comprised of seven university medical institutions in the United States and England, which are working together with the Center for Human Genetics at Duke University and Glaxo Wellcome, a pharamaceutical research company.

"Osteoarthritis is a highly debilitating and painful condition suffered by millions of people," says Marc C. Hochberg, M.D., M.P.H., head of the Division of Rheumatology and Clinical Immunology at the University of Maryland Medical Center and principal investigator of the study. "We know that it is hereditary but we do not know which gene or genes carries the hereditary code. Finding a genetic basis for the disease will open up whole new possibilities for finding effective treatments and even preventive measures for this condition."

The three-year study will enroll 1,400 families who have two or more siblings with primary generalized osteoarthritis, a form of arthritis that affects the hands, hips, knees and spine. Study participants will visit the research center only once to provide in-depth interviews about their general health, family history and risk factors for arthritis. In addition they will have a physical examination and provide a blood sample as well as x-rays of the hand, hip, knee and lower spine. The researchers will then analyze the DNA samples and x-rays and chart the family tree to try to identify the genes involved.

"We believe that by analyzing the DNA and health histories of a large group of patients with osteoarthritis, we can uncover an accurate understanding of the role single or multiple genes play in the development of the disease," says Dr. Hochberg who is also professor of medicine at the University of Maryland School of Medicine. "This study will provide additional insight about osteoarthritis which will ultimately benefit patients."

In osteoarthritis, the cartilage that covers the ends of the bones deteriorates, causing pain and loss of muscle function. While age is a major risk factor for developing osteoarthritis, the disease is not just an inevitable consequence of aging. Other risk factors include major joint trauma, repetitive stress, and obesity.

The pain of osteoarthritis is often described as a deep ache, specific to the affected joint. The pain is aggravated when the joint is used and subsides when the joint is at rest.However, as the disease progresses the pain can persist even when the joint is not being used. Inflammation and swelling at the joint may occur and cause physical deformity in the later stage. There is no current cure for osteoarthitis. Various treatment options can help alleviate the symptoms. Pain-killers and anti-inflammatory agents are the mainstay of drug therapy. However, therapy and lifestyle changes can also reduce the symptoms of the disease. Surgery, including joint replacement, is used when all else has failed.

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