HERV activation segregates ME/CFS from fibromyalgia while defining a novel nosologic entity

Authors: Giménez-Orenga, Karen; Martín-Martínez, Eva; Nathanson, Lubov; Oltra, Elisa

Cohorts in this study

Phenotype: ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)

ADM, AIMP1, AKT2, ARNT, ATF3, ATM, B2M, BCCIP, BCL2A1, BCL2L11, BCL6, BID, BNIP2, BRAF, BTG3, CALCR, CANX, CASP1, CASP10, CASP3, CASP4, CASP8, CBX3, CCL3, CCL3L1, CCL3L3, CCNG1, CCNG2, CCNT1, CCR1, CCR5, CD2, CD28, CD3D, CD47, CD5, CD69, CD74, CD83, CDC42, CDC42EP3, CDK5RAP1, CDK5RAP2, CDK7, CDKN1A, CDKN1B, CEBPB, CFLAR, CHD1, CHD7, CKS2, CLEC7A, CNOT3, CNPPD1, CNTF, COX5A, CREB1, CREM, CSNK2A1, CTNNA1, CTNNB1, CTSB, CTSL, CTSS, CUL1, CXCL16, CXCR4, CXXC1, CYCS, CYLD, DAPK1, DCLRE1C, DDB1, DDX3X, DFFA, DIABLO, DKC1, DNMT1, E2F3, E2F4, EED, EGR1, EGR2, EIF3D, EIF4B, EOMES, EPC2, ERCC1, ERCC5, ETS2, EWSR1, EZH2, FCGR2A, FCGR2C, FCGR3A, FOS, FOXO3, FRAT1, GADD45A, GALC, GAR1, GATC, HDAC4, HES1, HEXB, HIF1A, HK2, HLA-A, HLA-DRB1, HLA-DRB3, HMGA1, HMGN2, HNRNPA2B1, HNRNPC, HNRNPD, HSP90AA1, HSP90AB1, HSP90B1, HSPA1L, HSPA9, HTATSF1, ICOS, ICOSLG, ID2, IFNAR1, IFNGR1, IGF2R, IGSF6, IKZF3, IL16, IL6R, IL6ST, INO80D, IRAG2, IRAK1, IRAK3, IRF1, IRF4, ISG20, ITGAM, JAK1, KDM2B, KMT2A, KMT2C, KMT2E, KRAS, KRIT1, KRT10, LARP7, LDHA, LYN, MAF, MAFB, MALT1, MAP2K1, MAP3K5, MAP3K7, MAPK1, MAPK8, MBTD1, MCL1, MCM3, MDM2, MEF2C, METAP2, MSH5, MSH6, MTF2, MX1, MYD88, NAIP, NAMPT, NBN, NCK1, NF1, NFATC2, NFKB1, NFKBIA, NHP2, NLRP3, NONO, NOP10, NOTCH2, NPM1, NR3C1, NR4A1, NR4A3, NRAS, NUMB, OSM, PABPC1, PAFAH1B1, PAG1, PAK1, PARK7, PARP1, PBRM1, PCGF5, PDK1, PDPK1, PEA15, PGK1, PHC1, PHF19, PIK3C2A, PIK3CA, PIK3R1, PLAT, PLAUR, PNMA1, PPIA, PPM1D, PPP1CA, PPP1CC, PPP1R8, PPP2R1B, PRKCB, PRKCH, PSMB2, PTEN, PTGES3, PTPRA, PTPRC, PTTG1, PURA, RAD1, RAD21, RAD23B, RAD50, RAD51B, RAD51C, RAF1, RASA1, RBBP4, RBBP7, REL, RGS2, RHEB, RORA, RPA3, RPS5, RPSA, RTCB, RTL6, RTN4, RUNX3, S100A6, S1PR1, SARAF, SET, SHC1, SIAH1, SLC19A1, SLC25A3, SLC2A1, SLK, SMAD3, SMAD4, SMARCA2, SMARCA5, SMARCC1, SMARCC2, SMNDC1, SNORA6, SNORA62, SNX3, SOD1, SRSF9, SSB, STAT1, STAT3, STAT4, SYK, TAB2, TCF20, TDG, TERF1, TFCP2, TFDP1, TFRC, TGFBR1, TGIF1, THAP11, TICAM2, TINF2, TKFC, TLR1, TLR4, TLR8, TMED2, TMED7-TICAM2, TNFRSF10B, TNFRSF10D, TNFSF8, TP53BP2, TP53INP1, TPP1, TRIM22, TRIM24, TRIM25, TRIM27, TRIM33, TRIM5, TSC2, TSG101, UQCRFS1, USP22, USP3, USP7, VEGFA, XIAP, XPO1, XRCC5, XRCC6, YWHAQ, YY1, YY1AP1, ZNF146, ZNF24, ZNF75D, ZSCAN25, ZSCAN32

Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria

ACLY, ADM, AIMP1, ASCL2, ASH2L, ATF3, BCCIP, BCL2L11, BCL6, BCR, BID, BIRC6, BNIP2, BTG2, BTG3, C11orf58, CALCR, CANX, CASP1, CASP10, CASP3, CASP4, CASP8, CASP9, CBX3, CCL3, CCNG1, CCNG2, CCNT1, CCR1, CCR2, CCR5, CD2, CD3D, CD47, CD69, CD83, CDC42EP3, CDK5RAP2, CDK6, CDK7, CDKN1B, CEBPB, CFLAR, CHD1, CHD7, CKS1B, CKS2, CLEC7A, CNOT3, CNPPD1, CNTF, COX5A, CREB1, CSNK2A1, CTBP2, CTLA4, CTNNA1, CTNNB1, CTSB, CTSL, CTSS, CX3CR1, CXCR4, CXCR5, CYCS, CYLD, DAPK1, DCLRE1C, DDB1, DFFA, DIABLO, DKC1, DNMT1, E2F3, E2F4, EED, EGR1, EGR2, EIF3D, EOMES, EPC2, ERCC1, EZH2, FCGR2A, FCGR2C, FCGR3A, FOS, FOXO3, FRAT1, GADD45A, GALC, GAR1, GATC, HDAC4, HES1, HEXB, HIF1A, HK2, HLA-A, HLA-DRB1, HLA-DRB3, HMGA1, HMGN2, HNRNPA2B1, HNRNPC, HNRNPD, HSP90AA1, HSP90AB1, HSP90B1, HSPA1L, HSPA9, HTATSF1, HTT, ICOS, ID2, IFNAR1, IFNGR1, IGF2R, IGSF6, IKZF3, IL16, IL6R, IL6ST, IRAG2, IRAK1, IRAK3, IRF1, IRF2, IRF4, ITGAM, JUN, KDM2B, KMT2A, KMT2E, KRAS, KRIT1, KRT10, LARP7, LDHA, MAF, MALT1, MAP2K1, MAP3K1, MAP3K5, MAP3K7, MAPK1, MAPK8, MBTD1, MCL1, MCM3, MCM4, MDM2, MEF2C, METAP2, MOAP1, MSH2, MSH5, MSH5-SAPCD1, MSH6, MTF2, MYCL, MYD88, NAIP, NAMPT, NBN, NCK1, NF1, NFATC2, NFKB1, NFKBIA, NHP2, NLRC4, NONO, NOP10, NOTCH2, NPM1, NR3C1, NR4A1, NR4A3, NRAS, NUMB, OGG1, PAFAH1B1, PAG1, PAK1, PARK7, PARP1, PBRM1, PCGF5, PDK1, PDPK1, PEA15, PGK1, PHC1, PHF1, PIK3C2A, PIK3CA, PIK3R1, PNMA1, PPIA, PPM1D, PPP1CA, PPP1CC, PPP1R15A, PPP1R8, PPP2R1B, PRKCB, PRKCH, PRPF8, PSMB2, PTEN, PTGES3, PTPRA, PTPRC, PTTG1, PURA, RAC2, RAD1, RAD21, RAD23B, RAD51B, RAD51C, RAF1, RASA1, RBBP4, RBBP7, REL, RGS2, RHEB, RNASEL, RORA, RPA3, RPS5, RPSA, RTCB, RTL10, RTL6, RTN4, S100A6, S1PR1, SAPCD1, SARAF, SET, SHC1, SIAH1, SLC2A1, SLK, SLX4, SMAD4, SMARCA2, SMARCA5, SMARCC1, SMARCC2, SMNDC1, SNORA6, SNORA62, SNX3, SOD1, SOS1, SRSF9, SSB, STAT1, STAT3, SYK, TFCP2, TFRC, TGFBR1, THAP11, TICAM2, TINF2, TKFC, TLR1, TLR4, TLR8, TMED2, TMED7-TICAM2, TNFRSF10B, TNFRSF10D, TPP1, TRIM22, TRIM24, TRIM25, TRIM33, TRIM5, TSC2, TSG101, UQCRFS1, USP22, USP3, USP7, XIAP, XPO1, XRCC5, XRCC6, YWHAQ, YY1, YY1AP1, ZNF146, ZNF232, ZNF24, ZNF75D, ZSCAN32

Phenotype: Fibromyalgia, Fibromyalgia - 1990 ACR (American College of Rheumatology) criteria, Fibromyalgia - 2011 ACR (American College of Rheumatology) criteria, ME/CFS, ME/CFS - CCC criteria, ME/CFS - ICC Criteria, Post-exertional malaise (PEM)

ACLY, AIMP1, ATF3, BCCIP, BCL2L11, BCR, BID, BIRC6, BNIP2, BTG2, BTG3, C11orf58, CASP4, CASP9, CCNG1, CCNT1, CCR1, CD47, CDK6, CDKN1B, CEBPB, CHD7, CKS1B, COX5A, CTLA4, CTSL, CXCR5, CYCS, CYLD, DIABLO, DNMT1, EED, ERCC1, EZH2, FCGR2A, HEXB, HIF1A, HLA-A, HMGN2, HNRNPC, HSPA9, HTATSF1, ICOS, ID2, IL6R, IL6ST, IRF1, KMT2E, KRAS, KRT10, LARP7, LDHA, MALT1, MAP3K1, MBTD1, MCL1, MCM4, METAP2, MOAP1, MSH5, MSH5-SAPCD1, MTF2, NAMPT, NOP10, NOTCH2, NPM1, NR3C1, NR4A1, NRAS, PAG1, PGK1, PIK3R1, PPIA, PPP1CC, PRKCB, PRKCH, PRPF8, PTGES3, PTPRC, PTTG1, RAC2, RAD23B, RBBP4, RPA3, RTL10, RTN4, S1PR1, SAPCD1, SARAF, SET, SIAH1, SLC2A1, SMNDC1, SOD1, SSB, STAT1, TICAM2, TLR1, TNFRSF10B, TRIM22, UQCRFS1, USP3, ZNF24

Notes

ME/CFS-only cohort includes genes from these comparisons: CO_C, ME_C, ME_FM
Fibromyalgia-only cohort includes genes from these comparisons: CO_C, FM_C, ME_CO, ME_FM
ME/CFS+Fibromyalgia cohort includes genes from these comparisons: CO_C, ME_CO