Table 3.
Gene | Protein product | Known role in OM | Ref. |
---|---|---|---|
Bpifal | Antibacterial | Deletion increases OM susceptibility | 30 |
Casp4 | Inflammasome effector | Inflammasome deficiency enhances OM | 31 |
Ccl3 | Chemotactic chemokine | Deletion enhances OM | 32 |
Ccr2 | Chemokine receptor | Deletion enhances OM | U |
Cd44 | Hyaluronin receptor, multifunctional | Deletion alters leukocyte recruitment in OM | 33 |
Celsr1 | Intercellular organization | Mutation causes OM | J |
Coro1a | Lytic granule secretion | Mutation causes immunodeficiency and chronic OM | 34 |
Dusp1 | MAP kinase phosphatase | Inhibits MUC5AC production in response to NTHi | 35 |
Enpp1 | Transmembrane glycoprotein | Mutations cause OM with ectopic bone formation | 36 |
Entpd1 | ATP hydrolase | Predicted to increase chronic OM | A |
Fbxo11 | Transcription factor | Mutation causes a middle ear cavitation | 37 |
Fli1 | Transcription factor | Haploinsufficiency causes OM | 38 |
Grn | Granulin growth factor precursor | Deletion reduces bacterial clearance in OM | 39 |
Hbegf | Epithelial growth factor | Stimulates middle ear epithelial growth | 40 |
Il1rn | IL1 receptor antagonist | Deletion exacerbates OM | U |
Mapk9 | JNK isoform 2, gene regulation | JNK2 mutation exacerbates OM | 41 |
Mif | Pro-inflammatory mediator | Blocking MIF alleviates OM | 42 |
Mkp1 | MAPK phosphatase | Upregulation reduces MUC5AB production in OM | 35 |
Ncf2 | Superoxide source in neutrophils | Predicted to increase chronic OM | A |
Nfkb1 | Immune, growth signaling | Deletion enhances OM | U |
Nisch | Cell signaling | Mutation causes OM | 43 |
Nlrp3 | Pathogen receptor, inflammasome | Inflammasome deficiency enhances OM | 31 |
Nod1 | Pathogen receptor | Mutation exacerbates OM | U |
Nod2 | Pathogen receptor | Mutation reduces bacterial clearance in OM | 44 |
Pai1 | Plasminogen inhibitor | Deletion exacerbates OM | 45 |
Pax9 | Growth-related transcription factor | Down-regulation leads to OM | 46 |
Pycard | ASC inflammasome component | Deletion enhances OM | 31 |
Ripk2 | Pathogen receptor signaling | Deletion disables OM recovery | U |
Spag6 | Cilia gene | Deletion causes OM | 47 |
Tbx1 | Transcription factor | Mutation alters facial morphology, increases OM incidence | 22 |
Tlr2 | Pathogen receptor | Deletion exacerbates OM | 48 |
Abbreviations: U, unpublished observations from D.G. Hur, B. Nuyen and A. Kurabi; J, phenotype from Jackson Labs; NTHi, non-typeable Haemophilus influenzae; A, ARCHS4 database