The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

C9orf3  -  chromosome 9 open reading frame 3

Homo sapiens

Synonyms: AOPEP, AP-O, APO, Aminopeptidase O, C90RF3, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of C9orf3


Psychiatry related information on C9orf3

  • The polymorphic K variant of the butyrylcholinesterase ( BCHE-K ) gene recently has been demonstrated to have an elevated frequency in Alzheimer's disease (AD) patients carrying the epsilon4 allele of the apolipoprotein (APO E) gene when compared with a control population [5].
  • The association between epsilon4 and early onset bipolar disorder (BPD) with psychotic symptoms suggests that APO E gene is a risk factor for a subgroup of BPD, or influences the phenotypic expression (i.e. psychotic symptoms or age at onset) of manic depressive illness [6].

High impact information on C9orf3

  • We have investigated the effect of the APO D polymorphism on triglycerides, total cholesterol, LDL-, VLDL-, HDL-, and HDL3 cholesterol in 352 Nigerian blacks (190 males and 162 females).(ABSTRACT TRUNCATED AT 250 WORDS)[7]
  • To investigate the extent of genetic variation at the APO D structural locus, we have developed an isoelectric focusing-immunoblotting technique and have screened a large number of plasma samples from U.S. whites, U.S. blacks, Nigerian blacks, the Aleuts of the Pribilof Islands, Eskimo groups from Kodiak Island and St [7].
  • No genetic polymorphism has been reported in the APO D gene product [7].
  • In populations with black ancestry, the products of two alleles, APO D*1 and APO D*2, have been observed at respective allele frequencies .987 and .013 in U.S. blacks and .978 and .022 in Nigerian blacks [7].
  • AvaII RFLP at the human apolipoprotein CII (APO CII) gene locus [8].

Biological context of C9orf3

  • APO E genotype was determined by PCR-RFLP [4].
  • While no correlation did result between the serum level and the serological phenotype of the As lipoprotein, the peptidic distribution of the APO parts from different As-LDL showed differences correlated to the allotypic phenotype [9].
  • The APO-A4 gene was up-regulated in familial PCA [10].

Associations of C9orf3 with chemical compounds

  • CONCLUSIONS: Reduced apo B levels were observed associated to chloroquine treatment and 2/3 APO E genotype [4].
  • Some evidence also indicates that APO E2 individuals are more likely to respond favorably to gemfibrozil and cholestyramine [11].
  • On the other hand, it appears that with probucol, APO E4 genotype individuals may improve plasma lipoprotein-lipid profiles more than APO E3 individuals [11].

Analytical, diagnostic and therapeutic context of C9orf3

  • Stratification of these groups with reference to the APO E epsilon4 allele also showed no difference between AD and control groups [5].
  • To assess how each polymorphism of the APO B gene was associated with CAD and MI risk, we carried out a meta-analysis of all published studies [1].
  • Both cross-sectional and longitudinal studies generally indicate that APO E2 and E3 individuals improve plasma lipoprotein-lipid profiles more with exercise training than APO E4 individuals [11].
  • APO E2 and E3 genotype perimenopausal women appear to improve plasma lipoprotein-lipid profiles more with hormone replacement therapy than APO E4 women [11].
  • On the other hand, low-fat diet interventions tend to reduce plasma LDL cholesterol and, perhaps, plasma total cholesterol levels more in APO E4 than in APO E2 or E3 individuals [11].


  1. APO B gene polymorphisms and coronary artery disease: a meta-analysis. Chiodini, B.D., Barlera, S., Franzosi, M.G., Beceiro, V.L., Introna, M., Tognoni, G. Atherosclerosis (2003) [Pubmed]
  2. Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus. Morcillo, S., Cardona, F., Rojo-Martínez, G., Esteva, I., Ruíz-de-Adana, M.S., Tinahones, F., Gómez-Zumaquero, J.M., Soriguer, F. Diabet. Med. (2005) [Pubmed]
  3. DNA polymorphisms in linkage disequilibrium at the 3' end of the human APO AII gene: relationships with lipids, apolipoproteins and coronary heart disease. Dupuy-Gorce, A.M., Desmarais, E., Vigneron, S., Buresi, C., Nicaud, V., Evans, A., Luc, G., Arveiler, D., Marqués-Vidal, P., Cambien, F., Tiret, L., Crastes de Paulet, A., Roizés, G. Clin. Genet. (1996) [Pubmed]
  4. Evaluation of lipid profile, macular toxicity and clinical manifestations according to APO E genotype in systemic lupus erythematosus and rheumatoid arthritis patients treated with chloroquine. Vázquez-Del, M.M., Muñoz-Valle, J.F., Santos, A., Bernard-Medina, A.G., Martínez-Bonilla, G., Paczka, J.A., Ruiz-García, H., Orozco-Alcalá, J., Orozco-Barocio, G., Quezada-Arellano, D., Gurrola-Díaz, C., Nuño-González, P., Best-Aguilera, C.R., Chávez-Castellanos, R., Panduro, A. Scand. J. Rheumatol. (2002) [Pubmed]
  5. No association between the K variant of the butyrylcholinesterase gene and pathologically confirmed Alzheimer's disease. Singleton, A.B., Smith, G., Gibson, A.M., Woodward, R., Perry, R.H., Ince, P.G., Edwardson, J.A., Morris, C.M. Hum. Mol. Genet. (1998) [Pubmed]
  6. Apolipoprotein E gene polymorphism in early and late onset bipolar patients. Bellivier, F., Laplanche, J.L., Schürhoff, F., Feingold, J., Féline, A., Jouvent, R., Launay, J.M., Leboyer, M. Neurosci. Lett. (1997) [Pubmed]
  7. Genetic studies of human apolipoproteins. IX. Apolipoprotein D polymorphism and its relation to serum lipoprotein lipid levels. Kamboh, M.I., Albers, J.J., Majumder, P.P., Ferrell, R.E. Am. J. Hum. Genet. (1989) [Pubmed]
  8. AvaII RFLP at the human apolipoprotein CII (APO CII) gene locus. Korneluk, R.G., MacLeod, H.L., Leblond, S.C., Monteith, N.L., Baralle, F.E., Hunter, A.G. Nucleic Acids Res. (1987) [Pubmed]
  9. Immunochemistry of an allotypic low density lipoprotein in man. De Benedictis, G., Di Maio, E., Dragone, A., Brancati, C., Tagarelli, A. Exp. Clin. Immunogenet. (1984) [Pubmed]
  10. Differential gene expression in patients genetically predisposed to pancreatic cancer. Zervos, E.E., Tanner, S.M., Osborne, D.A., Bloomston, M., Rosemurgy, A.S., Ellison, E.C., Melvin, W.S., de la Chapelle, A. J. Surg. Res. (2006) [Pubmed]
  11. APO E gene and gene-environment effects on plasma lipoprotein-lipid levels. Hagberg, J.M., Wilund, K.R., Ferrell, R.E. Physiol. Genomics (2000) [Pubmed]
WikiGenes - Universities