Gene set predictor for post-treatment Lyme disease

Lyme disease (LD) is tick-borne disease whose post-treatment sequelae are not well understood. For this study, we enrolled 152 individuals with symptoms of post-treatment LD (PTLD) to profile their peripheral blood mononuclear cells (PBMCs) with RNA sequencing (RNA-seq). Combined with RNA-seq data from 72 individuals with acute LD and 44 uninfected controls, we investigated differences in differential gene expres-sion. We observe that most individuals with PTLD have an inflammatory signature that is distinguished from the acute LD group. By distilling gene sets from this study with gene sets from other sources, we identify a subset of genes that are highly expressed in the cohorts but are not already established as biomarkers for inflammatory response or other viral or bacterial infections. We further reduce this gene set by feature impor-tance to establish an mRNA biomarker set capable of distinguishing healthy individuals from those with acute LD or PTLD as a candidate for translation into an LD diagnostic.

Automated summary

This study analyzed differential gene expression in peripheral blood cells of patients with acute Lyme disease and post-treatment Lyme disease using RNA sequencing, revealing an inflammatory signature in post-treatment patients distinct from those with acute disease. By extracting gene sets and analyzing feature importance, a potential biomarker set was identified for distinguishing healthy individuals from those with acute or post-treatment Lyme disease.