Information provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases
Although health care professionals can prescribe or recommend treatments to help patients manage their rheumatoid arthritis, the real key to living well with the disease lies with the patients themselves. Research shows that people who take part in their own care report less pain and make fewer doctor visits. They also enjoy a better quality of life.
Self-management programs teach about rheumatoid arthritis and its treatments, exercise and relaxation approaches, communication between patients and health care providers, and problem solving. Research on these programs has shown that they help people:
- Understand the disease
- Reduce their pain while remaining active
- Cope physically, emotionally, and mentally
- Feel greater control over the disease and build a sense of confidence in the ability to function and lead full, active, and independent lives.
What Research is Being Conducted on Rheumatoid Arthritis?
Over the last several decades, research has greatly increased our understanding of the immune system, genetics, and biology. This research is now showing results in several areas important to rheumatoid arthritis. Scientists are thinking about rheumatoid arthritis in exciting ways that were not possible even 10 years ago.
The National Institutes of Health (NIH) funds a wide variety of medical research at its headquarters in Bethesda, MD, and at universities and medical centers across the United States. One of the NIH institutes, the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), is a major supporter of research and research training in rheumatoid arthritis through grants to individual scientists, Specialized Centers of Research, Multidisciplinary Clinical Research Centers, and Multipurpose Arthritis and Musculoskeletal Diseases Centers.
Following are examples of research in rheumatoid arthritis supported by the Federal Government through the NIAMS and other parts of NIH.
Genetics
Researchers are studying genetic factors that predispose some people to developing rheumatoid arthritis, as well as factors connected with disease severity. Over the past decade, NIAMS-supported research in this area has led to several important genetic discoveries including the following:
Variation in a gene involved in controlling T-cell activation doubles rheumatoid arthritis risk: The variation—called a single nucleotide polymorphism (SNP)—is located within a gene that codes for PTPN22, an enzyme known to be involved in controlling the activation of white blood cells called T cells that play an important role in the body’s immune system. Where the SNP is present in one or both copies of a person’s genes for this enzyme, T cells and other immune cells respond too vigorously, causing increased inflammation and tissue damage. Scientists say the implications of this finding go beyond a better understanding of rheumatoid arthritis risk; it may also help explain why different autoimmune diseases tend to run in families. Other studies have the same SNP with type-1 diabetes and juvenile arthritis.- Genetic variation increases risk of rheumatoid arthritis and lupus: Separate research found a SNP in a large segment of the STAT4 gene increases the risk of both rheumatoid arthritis and another autoimmune disease, systemic lupus erythematosus (lupus). The STAT4 gene encodes a protein that plays an important role in the regulation and activation of certain cells of the immune system. One variant form of the gene was present at a significantly higher frequency in rheumatoid arthritis patient samples from the North American Rheumatoid Arthritis Consortium (NARAC)—a consortium formed to collect, analyze, and make available clinical and genetic data on 1,000 sibling pairs with rheumatoid arthritis—as compared with controls. Scientists replicated that result in two independent collections of rheumatoid arthritis cases and controls.
- Twin study shows genetic differences in rheumatoid arthritis: Because identical twins have the exact same genes at conception, scientists believe that changes in the genes after the genome is constructed may account for why one of a twin pair can have rheumatoid arthritis while the other does not. To better understand what those changes might be, scientists have used a sophisticated technique called microarray to examine the expression of more than 20,000 genes at a time in 11 pairs of disease-discordant identical twins (meaning one twin had the disease, the other did not). The examination led to the detection of differences in expression of 827 genes. The most significantly over expressed gene was laeverin, an enzyme that breaks down certain types of proteins; second was 11ß-hydroxysteroid dehydrogenase type 2 (11ß-HSD2), important in a steroid pathway linked to inflammation and bone erosion; and third was cysteine-rich angiogenic inducer 61 (Cyr61), which is known for its role in angiogenesis, the formation of new blood vessels. The scientists say their findings are exciting because they offer new insights into the mechanisms by which rheumatoid arthritis is mediated.
- Genetic region associated with rheumatoid arthritis risk: Using the relatively new genome-wide association approach, which makes it possible to analyze between 300,000 and 500,000 single nucleotide polymorphisms, researchers in the United States and Sweden identified a region of chromosome 9 containing two genes relevant to chronic inflammation: TRAF1 (encoding tumor necrosis factor receptor-associated factor 1) and C5 (encoding complement component 5). Scientists say it is not yet known how the genes in the TRAF1-C5 region influence rheumatoid arthritis risk, but they hope that by learning more about the genes and their role in the disease, they may find clues to influencing treatment of the disease.
- Rare gene variants associated with rheumatoid arthritis: Another genome-wide association scan was used to determine that rare variants of a gene that encodes the enzyme sialic acid acetylesterase (SIAE) are associated with several autoimmune diseases, especially rheumatoid arthritis and type 1 diabetes. This discovery suggests that SIAE plays an important role in autoimmunity. They also highlight the promise that rare variant analysis holds for unraveling complex, multigene diseases.
For more information about rheumatoid arthritis and other musculoskeletal health issues, visit www.niams.nih.gov. Join us next month for part 8 of the series on RA.
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