Background/Purpose: Low cost, patient-administered, “from home” genomic tests for monitoring disease activity and therapy response could revolutionize treatment and management of Systemic Lupus Erythematous (SLE) patients by minimizing the use of ineffective therapies and detecting changes in disease activity before a flare occurs. Here we demonstrate the ability to test gene expression levels associated with Type 1 Interferon (IFN), plasmablast, T-cell exhaustion and other SLE disease pathways using a multi-module gene expression assay in a large “from home” cohort of self-reported SLE and MS patients.

Methods: 1,278 patients with SLE or multiple sclerosis (MS) were recruited under an IRB-approved, Direct-to-Patient observational study in which participants provided self-collected blood samples. The study included 832 SLE patients, 446 MS patients, 269 demographic normal donors and 189 participants with known common medical conditions. SLE patients provided longitudinal samples resulting in the 2,129 samples for SLE. Testing was performed using a 47-gene, multi-module gene expression assay based on chemical ligation dependent probe amplification (CLPA) which enables direct from stabilized blood testing with no RNA isolation steps.

Results: 13.8% of the normal patients were found to be IFN high while SLE patients were 36.8% IFN High and MS patients were 20% IFN High. The difference in IFN activity between SLE and MS was statistically significant (p<0.001). In the 17 common disease sub-cohort, immunocompromised patients (n=28, 32.1%), heart disease (n=11, 27.3%) and participants with influenza (n=12, 91.7%) displayed above normal IFN levels.

High IFN was associated with ethnicity and age at time of diagnosis in the SLE cohort. Caucasian samples (n=1,721) were IFN high 31% of the time, while African American (n=204, High IFN 68.1%) and Asian patients (n=32, High IFN 90.6%) showed a higher prevalence. IFN activity in SLE participants correlated with age of diagnosis with samples from participants diagnosed under 18 being IFN high 70.4% (n=115), 18 to 30 IFN high 45.4% (n=610), and over 30 (n=942) IFN high 27.3%.

Conclusion: A significant percentage of SLE and MS patients display elevated IFN levels, especially in younger SLE patients, as well as African Americans and Asians. Testing for IFN activity in suspected autoimmune disease patients may improve SLE diagnosis resulting in improved patient care and a reduced cost to the healthcare system.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/type-1-interferon-levels-correlates-with-age-of-diagnosis-and-ethnicity-in-systemic-lupus-erythematous/