Table 2.
Fibrotic Pathway | Lung (IPF) | Hand (DD) |
---|---|---|
ECM remodeling and fibroblast regulation (cell-cell adhesion, apoptotic regulation, integrity and mechanotransduction) | ACTA-2, ACTG2, ATP1A2, BRSK2 (rs71469892), CARD10, CLPTM1L (rs4449583), DES, DPP9, DSP (rs72825054, rs2744373, rs2744371, rs17133512, rs145125286, rs2008756, rs2237105), DYM, EIF1AY, MCF2L (rs1278769), MDGA2 (rs7144383), MFSD2A, MGMT, MIR4457(rs4449583), MYH11, NLGN4Y, PIGA, RNPS1, RPS4Y1, RTEL1, SCN1A, SLFNL1, SLN, SPPL2C (rs17690703), SYNPO2, TAGLN, TP53 (rs12951053, rs12602273), TPM2, VDAC3 | AEN, CARD11, DAD1, DDR2, EIF3E (rs611744), EPDR1 (rs16879765), FBXL7 (rs6897647), FBXO45 (rs7426655), ITGA11, KRT15, KRT19, MAFB (rs8124695), MMP14, MMP21/22B, SAV1, TIMP2 (rs4789939), TMEM170A |
Immune system dysfunction | DDX3Y, HLA (rs3117116), HLA-DRB1*15, IL-10, IL-1alpha, IL-4, IL-6 (intron 4G), IL1A, IL1B (rs1143627, rs1143634, rs1143643, rs1799916), IL1RN (rs11677397, rs2637988, rs397211, rs408392), IL3, IL4, IL8 (s4073T> A, rs2227307T> G, rs2227306C > T, IL8_ht3), KDM5D, R131H (FcgRIIa), UTY | CCL18, CFHR1, CFHR3, DGAT1, HCG27\\HLA-C (rs3132506, rs3130473), HCG4P6, HLA-A, HLA-DR4, HLA-DRB1*01, HLA-DRB1*15, ISG20, PRKX (rs17335275), SIRPB1, TRGC2, TRGV9 |
Profibrotic mediators | ADAMTSL5, ALX4, CDKN1A (rs2395655, rs733590), CDKN2B, CNN1, FAM13A (rs2609260), FAM83D, FZD5, GBP4, HFE (C282Y, S65C, H63D), IFI44L, IFIT3, IGFBP5, IGFBP6, KAAG1, OAS-2, PCDH9, SLC1A2, SLC22A11, SLC39A8, SLC6A14, SLCO4C1, TF, TGF- β1, TNF-RII, TNF-α, TOLLIP(rs111521887, rs5743894, rs5743890), ZFY, ZNF385B | ADAM3A, FKBP1A, HSF1, LRRC33 (rs7426656), MAP4K5, NEDD4, RSPO2 (rs611744), SDK1, SERP2, SFRP4 (rs16879765), TAB2, TGFB1, TGFbRI-3’UTR, TGFbRII-3’UTR3, TGFbRII-e5, TGFbRIII-3’UTR, WNT2 (rs4730775), WNT4 (rs7524102), WNT5A, Wnt7B (rs8140558, rs6519955), X89654, ZBTB40, ZC3H12D, Zf9–3’, Zf9–3’2, Zf9-c, ZIC1, ZIM3, ZNF160, ZNF264 |
DD, Dupuytren disease; ECM, extracellular matrix; IPF, idiopathic pulmonary fibrosis.