Fig. 2: Transcriptome profiling comparing PBMCs between SPs and HCs.

a Volcano plots showing DEGs between 24 SP and 12 HC in Seoul cohort. DEGs with significant (p < 0.05; |log₂(fold change)| > 1) changes were marked with colored dots. The blue dots represent the statistically significant downregulated genes, and the red dots represent the statistically significant upregulated genes. Statistical significance is observed for signatures above the dashed line. Two-sided p-values were calculated using the likelihood ratio test and adjusted for multiple comparisons using the Benjamini-Hochberg method to control the false discovery rate (FDR). b 9 inflammation-related KEGG pathways comparing PBMCs from SP and HC. The pathways that were significantly upregulated (q value < 0.05; normalized enrichment score > 2) were indicated as red color. Category names were shortened. Q values were calculated using the gseKEGG function of clusterProfiler package. c,d GSEA plot for inflammatory signatures comparing PBMCs from SP and HC. P values were determined by permutation test, and adjusted for multiple comparisons using the Benjamini-Hochberg method to control the false discovery rate (FDR). FDR < 0.25; NES, normalized enrichment score. e Dot plot showing the top 15 most significantly enriched GO biological process (BP) in PBMCs of SP vs HC; color indicates adjusted p values, while the dot size represents the gene count associated with each pathway. The p values were calculated using the hypergeometric test and adjusted for multiple comparisons using the two-sided Benjamini–Hochberg method. f Heatmap depicting TPM values of inflammatory response-related genes from IL-17 signaling, TNF signaling (KEGG) and Inflammatory response (HALLMARK) geneset in PBMCs of SP (n = 24) versus HC (n = 12). Z-score (Z). g Box-and-whisker plot illustrating the expression of the HP gene across four cohorts: Seoul, GSE232753, GSE154918, and GSE65682. The lower and upper hinges of the box represent the 25th and 75th percentiles, and the whiskers extend to the minimum and maximum values within 1.5 times the interquartile range. The median value is depicted by the line within the box. Statistical significance was calculated with a two-tailed t-test without adjustment (***p < 0.001). h GSEA plot for ‘α1,3 FUCOSYLTRANSFERASE ACTIVITY’ GO molecular function (MF) gene set in PBMCs of SP vs HC. P values were determined by permutation test, and adjusted for multiple comparisons using the Benjamini-Hochberg method to control the false discovery rate (FDR). i, Box-and-whisker plot illustrating the expression of the indicated genes. The lower and upper hinges of the box represent the 25th and 75th percentiles, and the whiskers extend to the minimum and maximum values within 1.5 times the interquartile range. The median value is depicted by the line within the box. Statistical significance was calculated with a two-tailed t-test without adjustment (*p < 0.05; **p < 0.01; ***p < 0.001). j Correlation between the expression of the HP gene (x-axis) and the expression of either the FUT4 or FUT7 gene (y-axis) with the best linear fit plotted. Pearson correlation coefficients were calculated to assess the linear association. The shaded area represents the 95 % confidence interval. P values were calculated using a t-distribution with [n-2] degrees of freedom. Pearson’s correlation coefficient and the p value are displayed in the top-left corner.