Year: 2017
Type: dissertation
Study design: Observational Study
Abstract: Rheumatoid arthritis (RA) presents in a highly variable fashion, with some patients not responding to currently-available therapy and suffering from regularly active disease. Few available markers currently exist to identify patients destined for severe disease, though there is evidence of a genetic basis for these differences. The goal of this study is therefore to investigate genetic RA risk loci and gene expression differences in patients presenting with mild versus severe disease. Disease severity was defined based on number of biologic drug failures to capture disease severity in a clinically relevant manner. Our findings suggest that these two groups do in fact harbor genetic differences at RA risk loci, though these seem to depend on serology as well. The Ly9-CD244 gene region presented with the most significant difference between patient groups. These groups also demonstrated significantly different gene expression profiles, though our findings are preliminary and require further investigation.
Source: TSpace (University of Toronto)
Author: Reena Yaman
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W2736028547