Genetic, serological and clinical studies in rheumatoid arthritis

Abstract

RA has a complex multifactorial aetiology, of which many elements remain unknown. Genetic and environmental risk factors play a major role in disease development. Over the past few years, understanding of the genetic basis of the susceptibility to RA has increased dramatically and the identified risk loci were confirmed to account for 51% of the total genetic effect of which 36% explained by HLA in addition to 15% non-HLA genetic factors. The challenge remains to identify the rest of those genetic effects and explore how these variants interact with each other as well as environmental factors to induce RA. Although autoantibody formation is characteristic for RA, the range of antibodies formed in RA is not entirely specific for RA. Additionally, the majority of studies exploring the test characteristics of RF, anti-CCP and anti-MCV compare RA patients to healthy controls while in clinical practice those tests are used to differentiate early RA from other forms of early inflammatory arthritis. Because the focus is now shifted towards early therapy a new tool to identify early RA replacing the classic 1987 ACR classification criteria was warranted. The ultimate goal of personalized treatment decision making incorporates genetic, serological as well as clinical factors.