Medical Centers Searching for Osteoarthritis Genes

CHAPEL HILL — It’s not difficult to find a family in which generation after generation has struggled with the same inherited disease. The challenge is finding the genetic link to understand how illnesses, such as osteoarthritis, are passed down from parents to their offspring.

An international research network composed of seven university medical institutions including the Thurston Arthritis Center at the University of North Carolina at Chapel Hill School of Medicine and Duke University Medical Center have just begun the largest study ever to look for that link, the genetic susceptibility to osteoarthritis.

The most common form of arthritis, osteoarthritis is a chronic condition that affects more than 21 million Americans. By analyzing DNA and health histories from many patients, researchers believe they will better understand the role that one or more genes play in the condition’s development. The goal is to find new and more effective medicines. The academic research institutions are working together with the Center for Human Genetics at Duke and Glaxo Wellcome, a pharmaceutical company.

“Osteoarthritis is a highly debilitating and painful disease,” said Dr. Virginia Kraus, lead investigator at Duke. “Finding a genetic basis for the disease will open up whole new possibilities for earlier diagnosis. Not only will it validate existing targets for drug development, but insights revealed by the study may also provide valuable information to be used in developing new treatments.”

Researchers will look at 1,400 families with clinical and X-ray evidence of primary generalized osteoarthritis, which affects the hands, hips, knees and spine. The degenerative process, in which cartilage covering the ends of bones deteriorates, causes pain and loss of movement. While age is a major risk factor, the disease is not just an inevitable consequence of aging. Other risk factors include major joint trauma, repetitive stress, obesity and various pre-existing conditions.

Study participants will be asked to visit a medical center once to provide in-depth interviews about their general health, family history and risk factors for arthritis. In addition, they will be asked to undergo a physical examination, provide a blood sample and have hip, knee and lower spine X-rays taken.

“This study is an opportunity for families with a history of osteoarthritis to participate in an important effort to understand better the genetic basis of this disease,” said Dr. Joanne Jordan, principal investigator at UNC-CH. “The study will provide insights into the disease, which will ultimately benefit patients.”

Osteoarthritis pain often is described as a deep ache, specific to the affected joint. Use of the joint aggravates it and rest relieves it, but as the disease progresses the pain can become persistent. Joint inflammation and swelling are common and in later stages can cause physical deformity.

No cure exists, but various treatments can help alleviate symptoms. Painkillers and anti-inflammatory agents are the mainstay of drug therapy. Heat and ice therapy and lifestyle changes can also reduce the disease’s impact, and surgery — including joint replacement — is used when all else fails.

Patients who would like information about the study can call UNC-CH at (919) 966-8350 or Duke at 681-5871.

Note: Jordan can be reached at (919) 966-0559, Kraus at 681-6652.

Contact: David Williamson, 962-8596.

Source: University of North Carolina at Chapel Hill

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