Systemic lupus erythematous (SLE) is a common relapsing remitting inflammatory autoimmune illness affecting at least 1 in a 1000 of the population. Interplay of genetic and environmental factors has been established as playing a role in the pathogenesis of the disease.

These factors are also proposed to have a significant role in both triggering autoimmunity and also in the degree to which the illness affects the individual. In the vast majority of SLE patients, the reason for why and when illness ‘flare’ events occur is unclear. It is also equally unclear as to whether the genetic profile, in particular the cytokine polymorphism individual profile, has a relationship to the frequency and intensity of adverse illness flares.

The lack of systematic data on gene polymorphisms and SLE flare activity has prompted the need for a study investigating the relationship between individual genetic backgrounds and the clinical phenotype of SLE, in particular flare frequency. While selected reports exist of studies of specific alleles, most concentrate on disease pathogenesis rather than disease flares and activity characteristics. To date no studies have been published with patient groups drawn from an Australian SLE population, the proposed study will be the first.

The study will involve a screen of polymorphisms for anti-inflammatory, proinflammatory and innate immune response genes, all of which have demonstrated or potential importance in relation to the pathogenesis and in some cases, activity of lupus. This study will search for selected significant Singe Nucleotide Polymorphisms (SNPs) of lupus patients, compared with matched controls participating in the EDOLF study. The assessment of potential for inflammatory responses through SNP analysis adds to the novelty of having a cohort of patients with various degrees of lupus activity and will potentially allow prognostic factors to be defined providing important information on lupus genetic influences. It is perceived that this study will contribute to our understanding of interactions between genetic background and environmental factors contributing to pathogenesis and activity of lupus. This will potentially improve patient management, in particular with individuals found to be genetically prone to more frequent and intense adverse health events (flares).
 

Researchers 

Associate Professor Glenn Reeves, Professor Caroline Blackwell, Marline Squance

Project type 
Project Grant
Year of funding 
2016