Fig 1.
Clustering analysis of LSG (labial salivary gland) DNA methylation profiles.
(A) Dendrogram from hierarchical clustering of VAE-based low dimensional embeddings from all 131 participants, with cluster numbering in the bottom and dendrogram cut height indicated by horizontal dotted line. (B) PCA plot of VAE-based low dimensional embeddings for all 131 study participants, with cluster numbering denoted by color and SS status denoted by shape.
Table 1.
Clinical phenotype analysis by cluster.
Fig 2.
Clinical phenotype comparison between severe SS and mild SS.
Plots of clinical phenotypes that are different at an α = 0.05 significance level between severe SS cases and mild SS cases. Severe SS cases are from clusters 1 and 2 and mild SS cases are from clusters 3 and 4. P-values from Wilcoxon rank sum tests or chi-square tests of independence are shown above each subplot. (A) Immunoglobulin G box plot. (B) Focus score box plot. (C) Ocular SICCA score (maximum of left and right eyes) box plot. (D) Detection of antinuclear antibody at 1:40 concentration level bar plot. (E) Anti-Ro/SSA bar plot. (F) Anti-La/SSB bar plot. (G) Rheumatoid factor bar plot. (H) Germinal center (GC)-like formation bar plot.
Table 2.
Clinical phenotype analysis by disease subgroup.
Fig 3.
Statistically significant DMRs (fwerArea ≤ 0.05) between severe and mild SS cases located in genes previously identified as hypomethylated in cases relative to non-cases.
(A) DMR located in PSMB8 and TAP1, (B) DMR located in ARHGAP25.
Table 3.
Top gene sets enriched for hypomethylated genes.