The biologic basis of clinical heterogeneity in juvenile idiopathic arthritis.
Bottom Line: The new patient classifications resolved major differences between patient subpopulations better than International League of Associations for Rheumatology subtypes.This new schema was conserved in an independent validation cohort.Our analytical framework enabled the recovery of unique patterns from small cohorts and addresses a major challenge, patient numbers, in studying rare diseases.
Affiliation: The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.Show MeSH
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Mentions: This definitive difference in homogeneity was clear when we displayed patient PC scores (heatmaps), grouped by cluster and ILAR subtype, and linkages (ribbons) between these 2 classification schemes using a Circos diagram (Figure 3). Homogeneous patterns were clearly evident in PC scores for each cluster on the left compared to the heterogeneous patterns for each ILAR subtype on the right. Additionally, oligoarthritis separated into all 5 clusters regardless of segregation into persistent or extended oligoarthritis (results not shown). Clinically meaningful patterns and linkages were visible; cluster I, which mostly corresponded to an ERA subset, and a large subset of cluster III, which corresponded to RF-negative polyarthritis, suggested that the clustering recapitulated expert-derived patient subtypes while stratifying patients more homogeneously.
Affiliation: The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.