Genetics and Rheumatic Diseases

The dramatic advances in gene sequencing and analysis have opened up new avenues to understanding the complexity of the interactions of genetics and rheumatic diseases. Disease associations have been explored in the past with human leukocyte antigen (HLA) associations with rheumatoid arthritis. Now we are able to understand the strong relative risk profiles for rheumatoid arthritis susceptibility by newer and more specific genetic markers.

Patients who have these genetic markers may experience a more severe disease course and respond differently to therapies. The science of differential response to drugs through genetic mechanisms is called pharmacogenomics. We are at the dawn of the age of discovering if there is a rational use of genetic testing to select a profile of drugs to treat an individual. Large-scale research efforts using linkage analysis are identifying genes that may comprise the overall genetic component to certain diseases, such as ankylosing spondylitis and rheumatoid arthritis.

Currently there are major research efforts to identify genes implicated in osteoarthritis and systemic lupus erythematosus. Specific gene therapies may be identified to reduce or block the pathways that lead to inflammation (swelling, tenderness and redness) in the progress of diseases such as rheumatoid arthritis. Newer technologies are being developed to use genetic information to profile individual patients aiding clinical diagnosis, predicting response and choice of individual therapies and providing molecular measures that can add to clinical research into the potential effectiveness of new drugs in clinical trials.