The APOE gene has other symbols as “AD2”, “LPG”, “APO-E”, and “LDLCQ5”. It is located at 19q13.2. The APOE gene has important roles in cardiovascular diseases including myocardial infarction, ischemic stroke, and coronary heart disease (Kathiresan et al. 2008).

The APOE gene is involved in immune responses to lipid antigens (Van den Elzen et al. 2005). It has also been connected with Alzheimer’s disease (Lambert et al. 2002), cognitive impairment (Caselli et al. 2009), multiple sclerosis (MS) (Enzinger et al. 2003).

In addition, it is associated with neurologic disorders such as epilepsy (Busch et al. 2007) and age-related macular degeneration (ARMD) (Anderson et al. 2001).

References:

Anderson, D. H., Ozaki, S., Nealon, M., Neitz, J., Mullins, R. F., Hageman, G. S., Johnson, L. V. Local cellular sources of apolipoprotein E in the human retina and retinal pigmented epithelium: implications for the process of drusen formation. Am. J. Ophthal. 131: 767-781, 2001.

Busch, R. M., Lineweaver, T. T., Naugle, R. I., Kim, K. H., Gong, Y., Tilelli, C. Q., Prayson, R. A., Bingaman, W., Najm, I. M., Diaz-Arrastia, R. ApoE-epsilon-4 is associated with reduced memory in long-standing intractable temporal lobe epilepsy. Neurology 68: 409-414, 2007.

Caselli, R. J., Dueck, A. C., Osborne, D., Sabbagh, M. N., Connor, D. J., Ahern, G. L., Baxter, L. C., Rapcsak, S. Z., Shi, J., Woodruff, B. K., Locke, D. E. C., Snyder, C. H., Alexander, G. E., Rademakers, R., Reiman, E. M. Longitudinal modeling of age-related memory decline and the APOE epsilon-4 effect. New Eng. J. Med. 361: 255-263, 2009.

Enzinger, C., Ropele, S., Strasser-Fuchs, S., Kapeller, P., Schmidt, H., Poltrum, B., Schmidt, R., Hartung, H.-P., Fazekas, F. Lower levels of N-acetylaspartate in multiple sclerosis patients with the apolipoprotein E epsilon-4 allele. Arch. Neurol. 60: 65-70, 2003.

Kathiresan, S., Melander, O., Anevski, D., Guiducci, C., Burtt, N. P., Roos, C., Hirschhorn, J. N., Berglund, G., Hedblad, B., Groop, L., Altshuler, D. M., Newton-Cheh, C., Orho-Melander, M. Polymorphisms associated with cholesterol and risk of cardiovascular events. New Eng. J. Med. 358: 1240-1249, 2008.

Lambert, J.-C., Araria-Goumidi, L., Myllykangas, L., Ellis, C., Wang, J. C., Bullido, M. J., Harris, J. M., Artiga, M. J., Hernandez, D., Kwon, J. M., Frigard, B., Petersen, R. C., and 19 others. Contribution of APOE promoter polymorphisms to Alzheimer’s disease risk. Neurology 59: 59-66, 2002.

van den Elzen, P., Garg, S., Leon, L., Brigl, M., Leadbetter, E. A., Gumperz, J. E., Dascher, C. C., Cheng, T.-Y., Sacks, F. M., Illarionov, P. A., Besra, G. S., Kent, S. C., Moody, D. B., Brenner, M. B. Apolipoprotein-mediated pathways of lipid antigen presentation. Nature 437: 906-910, 2005.

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