Table 4.
Atypical acute-phase genes differentially regulated after intravenous endotoxin challenge
| Association of Gene Products with Disease |
Function or Disorder | Fold Change |
LCL 95% |
UCL 95% |
||
|---|---|---|---|---|---|---|
| Probe set | Gene Symbol | Title | ||||
| Induced | ||||||
| 35245_at | F5 | coagulation factor V (proaccelerin, labile factor) |
hemorrhagic diathesis | 5.6 | 3.3 | 9.2 |
| 37003_at | CD63 | CD63 antigen (melanoma 1 antigen) | Hermansky-Pudlak syndrome | 4.0 | 2.9 | 5.5 |
| 1786_at | MERTK | c-mer proto-oncogene tyrosine kinase | retinitis pigmentosa | 3.2 | 2.1 | 4.8 |
| 40594_r_at | ACVRL1 | activin A receptor type II-like 1 | Rendu-Osler-Weber syndrome 2 | 2.8 | 1.0 | 7.6 |
| 1547_at | JAK3 | Janus kinase 3 (a protein tyrosine kinase, leukocyte) |
autosomal SCID (severe combined immunodeficiency disease). |
2.8 | 1.3 | 6.1 |
| 40159_r_at | NCF1 | neutrophil cytosolic factor 1 (47kD) | chronic granulomatous disease. | 2.8 | 1.7 | 4.6 |
| 41061_at | HIP1 | huntingtin interacting protein 1 | cytoskeleton disease, Huntingtons disease |
2.6 | 1.8 | 3.9 |
| 37096_at | ELA2 | elastase 2, neutrophil | cyclic neutropenia | 2.6 | 1.1 | 5.9 |
| 39075_at | NEU1 | sialidase 1 (lysosomal sialidase) | sialidosis | 2.4 | 1.4 | 4.3 |
| 37975_at | CYBB | cytochrome b-245, beta polypeptide | X-linked chronic granulomatous disease |
2.2 | 1.7 | 2.8 |
| 41471_at | S100A9 | S100 calcium binding protein A9 (calgranulin B) |
altered expression cystic fibrosis | 2.2 | 1.7 | 2.7 |
| 40459_at | ACOX1 | acyl-Coenzyme A oxidase 1, palmitoyl | pseudoneonatal adrenoleukodystrophy | 2.1 | 1.4 | 3.2 |
| 39791_at | ATP2A2 | ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 |
Darier-White disease, keratosis follicularis |
2.1 | 1.6 | 2.7 |
| 2044_s_at | RB1 | retinoblastoma 1 (including osteosarcoma) | embryonic malignant neoplasm | 2.0 | 1.3 | 3.1 |
| 38601_at | VMD2 | vitelliform macular dystrophy | bestrophin, macular dystrophy | 2.0 | 1.4 | 2.9 |
| 39964_at | RP2 | retinitis pigmentosa 2 (X-linked recessive) | retinitis pigmentosa | 2.0 | 1.4 | 2.9 |
| 37215_at | PYGL | phosphorylase, glycogen; liver | Hers disease, glycogen storage disease type VI |
2.0 | 1.6 | 2.5 |
| 35820_at | GM2A | GM2 ganglioside activator protein | glycolipid transport, Tay-Sachs disease | 2.0 | 1.4 | 2.8 |
| 36184_at | PLOD | procollagen-lysine, 2-oxoglutarate 5- dioxygenase |
Ehlers-Danlos syndrome type VI | 1.9 | 1.4 | 2.6 |
| 36090_at | TBL2 | transducin (beta)-like 2 | intracellular signaling, deleted in William-Beuren Syndrome |
1.9 | 1.4 | 2.4 |
| 36636_at | OAT | ornithine aminotransferase (gyrate atrophy) |
mitochondrial enzyme, autosomal recessive eye disease, gyrate atrophy |
1.9 | 1.5 | 2.3 |
| 41131_f_at | HNRPH2 | heterogeneous nuclear ribonucleoprotein H2 (Hl) |
Fabray disease and X-linked agammaglobulinemia |
1.8 | 1.5 | 2.3 |
| 40402_at | SLC6A2 | solute carrier family 6 member 2 | orthostatic intolerance | 1.7 | 1.2 | 2.6 |
| 38350_f_at | TUBA2 | tubulin, alpha 2 | Clouston hidrotic ectodermal dysplasia and Kabuki syndrome |
1.7 | 1.2 | 2.4 |
| 40639_at | SCO2 | SCO cytochrome oxidase deficient homolog 2 (yeast) |
fatal infantile cardioencephalomyopathy, hypertrophic cardiomyopathy, lactic acidosis, gliosis |
1.7 | 0.9 | 3.2 |
| 37126_at | SSA1 | Sjogren syndrome antigen A1 (52kD) | protein interacts with autoantigens of Sjogrens and systemic lupus |
1.7 | 1.5 | 1.9 |
| 35807_at | CYBA | cytochrome b-245, alpha polypeptide | Autosomal recessive chronic granulomatous disease |
1.6 | 1.5 | 1.8 |
| 32643_at | GBE1 | glucan (1,4-alpha-), branching enzyme 1 | glycogen storage disease IV (Andersen’s disease) |
1.6 | 1.4 | 2.0 |
| 222_at | EXT1 | exostoses (multiple) 1 | hereditary multiple exostoses | 1.6 | 1.2 | 2.2 |
| 36566_at | CTN5 | cystinosis, nephropathic | cystinosis | 1.6 | 1.2 | 2.2 |
| 38099_r_at | FACL4 | fatty-acid-Coenzyme A ligase, long-chain 4 |
mental retardation or Alport syndrome | 1.6 | 1.2 | 2.2 |
| 35153_at | NBS1 | Nijmegen breakage syndrome 1 (nibrin) | mental retardation, microcephaly, growth retardation, immunodeficiency, and cancer |
1.6 | 1.2 | 2.0 |
| 38378_at | CD53 | CD53 antigen | immunodeficiency associated with recurrent infectious |
1.5 | 1.4 | 1.8 |
| Repressed | ||||||
| 38789_at | TKT | transketolase | Wernicke-Korsakoff syndrome | 0.7 | 0.5 | 0.9 |
| 31330_at | RPS19 | ribosomal protein S19 | Diamond-Blackfan anemia (erythroblastopenia) |
0.6 | 0.5 | 0.7 |
| 34355_at | MECP2 | methyl CpG binding protein 2 | mental retardation, Rett syndrome | 0.5 | 0.4 | 0.7 |
| 37543_at | ARHGEF6 | Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 |
mental retardation | 0.5 | 0.5 | 0.6 |
| 34842_at | SNRPN | small nuclear ribonucleoprotein polypeptide N |
Angelman syndrome or Prader-Willi syndrome |
0.4 | 0.3 | 0.6 |
| 36673_at | MPI | mannose phosphate isomerase | carbohydrate deficient glycoprotein synthesis, type 1b |
0.4 | 0.3 | 0.6 |
| 41814_at | FUCA1 | fucosidase, alpha-L- 1, tissue | autosomal recessive lysosomal storage disease |
0.4 | 0.3 | 0.6 |
| 2000_at | ATM | ataxia telangiectasia mutated | ataxia telangectasia | 0.4 | 0.3 | 0.6 |
| 41866_s_at | DTNB | dystrobrevin, beta | defective in Duchenne muscular dystrophy |
0.4 | 0.2 | 0.7 |
| 38063_at | PBXIP1 | hematopoietic PBX-interacting protein | Ehler-Danlos syndrome, osteogenesis imperfecta |
0.4 | 0.3 | 0.5 |
| 35371_at | LRBA | vesicle trafficking, beach and anchor containing |
Chediak-Higashi syndrome | 0.4 | 0.3 | 0.5 |
| 2047_s_at | JUP | junction plakoglobin | arrhythmogenic right ventricular cardiomyopathy, palmoplantar keratoderma, woolly hair |
0.3 | 0.2 | 0.7 |
| 1370_at | IL7R | interleukin 7 receptor | severe combined immunodeficiency | 0.3 | 0.1 | 0.5 |
| 33825_at | SERPINA3 | serine (or cysteine) proteinase inhibitor, clade A, member 3 |
mutations in Parkinson disease, chronic obstructive pulmonary disease |
0.2 | 0.1 | 0.5 |
| 37456_at | LGALS2 | lectin, galactoside-binding, soluble, 2 (galectin 2) 3 |
a single-nucleotide polymorphism is associated with susceptibility to myocardial infarction. |
0.1 | 0.0 | 0.2 |