Fig. 2
ETV7 and KCTD20 were identified to be affected by the rs1061632 variant. A The major allele (T) was associated with a higher odds ratio for LB in both discovery and validation cohorts. B Regional association plot for rs1061632. Chromosomal position is displayed on the x-axis, in the lower part of the figure. -log10 p-values of SNPs are on the y-axis; positive values indicate association in the discovery cohort and negative values in the validation cohort. Each dot represents a variant, colored by the source, either genotyped or imputed. C The major allele (T) was associated with higher IL-1β production upon stimulation of PBMCs with B. burgdorferi s.l. for 24 h in the validation control cohort (cQTL). Together with increased IL-1β production upon PBMC stimulation for 24 h with M. tuberculosis, and IL-6 production upon whole blood stimulation for 48 h with S. aureus, those were the significant associations among a wide range of stimuli and cytokines [12]. P-value is age, gender and cell count corrected. D eQTL mapped genes to rs1061632. Values presented are extracted from the public cis eQTL results in whole blood samples of healthy individuals of the eQTLgen consortium. Z score as available for the risk allele (T). Only significant genes are reported. E Higher expression of KCTD20 was observed for the subset of patients from our LB cohort for whom RNA sequencing was performed (at baseline and after six weeks), compared to the healthy controls (at one time point), both in unstimulated and stimulated conditions. Stimulation with B. burgdorferi resulted in higher KCTD20 expression than in unstimulated conditions. Pairwise comparison p-values represent the result of Wilcoxon rank sum test. F Higher expression of ETV7 was observed for the subset of patients from our LB cohort for whom RNA sequencing was performed, when stimulated with B. burgdorferi s.l. compared to unstimulated conditions. Values reported were normalized by DESeq2. Pairwise comparison p-values represent the result of Wilcoxon rank sum test. * p < 0.05, ** p < 0.01, *** p < 0.001, **** p < 0.0001