TABLE I.
Gene ontology of estrogen-responsive genes in patients with EoE
| Group | Ontology | Activity | No. of genes | P value | Specific genes |
|---|---|---|---|---|---|
| Upregulated (male and female patients with EoE [n = 130]) | Biological process | Inflammatory response | 14/714 | 1.75E-07 | CYBB, SAA1, THBS1, SOCS3, CD44, ICAM1, CCL5, IFII6, PBK, PTGES, ITGAV, STAB1, CXCL1, BCL6 |
| Biological process | Regulation of cell cycle | 21/1012 | 2.26E-11 | PKMYT1, PMP22, FOXM1, NUSAP1, CKS2, PTTG1, THBS1, SFRP1 PTPRK, ANLN, BE2C, TPX2, BAK1, BIRC5, TACC3, CDC20, TOP2A, KIF11, KIFC1, CCNB1, AURKB | |
| Molecular function | Kinase binding | 12/693 | 5.29E-06 | TOP2A, ITGAV, PRC1, PKP2, CD44, TPX2, KIF20A, PTPRK, TRIB2, FOXM1 | |
| Downregulated (male and female patients with EoE [n = 85]) | Biological process | Response to hormone | 18/1035 | 9.15E-06 | CDKN1A, NCOA2, ANXA2, FOSL2, NUCB2, BCL2, TRIM24, ME1, RXRA, AREG, CITED2, GJA1, TIMP3, PIK3R1, DHCR24, PRKCE, BAIAP2L2, MARCKS |
| Biological process | Regulation of membrane permeability | 5/76 | 5.55E-05 | BCL2, BCL2L1, PPIF, IER3, PMAIP1 | |
| Biological process | Reponses to wounding | 16/973 | 6.00E-05 | KRT6B, ACHE, ANXA2, ACTG1, BCL2, IL1RL2, RXRA, ZFP36, S100A9, GJA1, TIMP3, IER3, PIK3R1, PRKCE, PARD3, MVK | |
| Upregulated (male patients with EoE [n = 13]) | Biological process | Steroid hormone receptor activity | 2/59 | 3.43E-04 | RARA, NR2C1 |
| Molecular function | Positive regulation of signal transduction | 7/1488 | 6.03E-07 | LGALS1, SLA, DUSP6, IGF1R, RARA, NR2C1, CD8A | |
| Downregulated (male patients with EoE [n = 31]) | Biological process | Gland development | 5/153 | 1.56E-06 | SOX9, ZNF703, CCND1, B4GALT1, TGFA |
| Biological process | Epithelial cell proliferation | 5/394 | 1.49E-04 | SOX9, ZNF703, CCND1, B4GALT1, TGFA | |
| Upregulated (female patients with EoE [n = 43]) | Biological process | DNA replication | 8/346 | 1.46E-07 | RAD51, CDC6, RFC3, BRCA1, POLA2, RFC5, RPA3, FEN1 |
| Biological process | Serine/threonine/tyrosine kinase activity | 2/49 | 3.53E-03 | MAP2K6, RPS6KA1 | |
| Downregulated (female patients with EoE [n = 15]) | Cellular component | Adherens junctions | 4/484 | 1.69E-04 | PTPN12, PGM5, EFNB2, NDRG1 |
| Pathways | NF-κB signaling pathway | 4/205 | 2.13E-06 | BLNK, IL1R1, CXCL2, NFKBIA |
Gene ontology of upregulated and downregulated gene expression from RNA-seq analysis of genes included in the estrogen-responsive gene database (total n = 317, FC > 1.5, P < .05) in patients with EoE (female patients, n = 4; male patients, n = 6) compared with control subjects (female subjects, n = 3; male subjects, n = 4) is shown.
NF-κB, Nuclear factor κB.