Table 2: Effect of the IRF5 risk haplotype on the expression of gene sets. Gene set enrichment analysis showed gene sets enriched in the risk haplotypes of either SLE-unaffected controls or SLE patients without EBV infection. Genes shown have a false discovery rate (FDR) of <25%.

Gene set nameAffected pathways or cellular conditionsNo. of genesNormalized enrichment score 𝑃 valueFDR q-value

Unaffected controls

CROONQUIST_IL6_STROMA_UPIL-6 exposure37−2.0260.00180.038
PASSERINI_INFLAMMATIONInflammation23−1.7510.01120.212
PASSERINI_PROLIFERATIONProliferation62−1.782<0.00010.224
ADIP_DIFF_CLUSTER2Differentiation41−1.7520.0040.225
CROONQUIST_RAS_STROMA_DNRas activation21−1.7570.00380.229
UVB_NHEK3_C6UV light exposure27−1.7630.00390.234
HOHENKIRK_MONOCYTE_DEND_DNDendritic cell maturation121−1.7240.03480.239
LEE_DENA_UPMurine liver cancer59−1.769<0.00010.241
ZUCCHI_EPITHELIAL_DNBreast cancer metastasis44−1.7850.01170.245

SLE patients

IFNALPHA_HCC_UPIFNα29−1.9680.00380.042
IFNALPHA_NL_HCC_UPIFNα18−1.8780.00960.063
RADAEVA_IFNA_UPIFNα49−1.8970.00590.07
IFNALPHA_NL_UPIFNα27−1.8470.00990.075
BENNETT_SLE_UPSLE28−1.7850.00820.138