No Evidence of Association of Interleukin 1A (-889) Genetic Polymorphism with Alzheimer's Disease in Koreans

  • Jhoo, Jin Hyeong (Department of Psychiatry, Pundang Jesaeng Hospital, Daejin Medical Center) ;
  • Park, Woong Yang (Department of Biochemistry and Molecular Biology, College of Medicine, Seoul National University) ;
  • Kim, Ki Woong (Department of Neuropsychiatry, Seoul National University Bundang Hospital) ;
  • Lee, Kwang Hyuk (Department of Biochemistry and Molecular Biology, College of Medicine, Seoul National University) ;
  • Lee, Dong Young (Department of Neuropsychiatry, Seoul National University, College of Medicine and Seoul National University Hospital) ;
  • Youn, Jong Chul (Department of Neuropsychiatry, Kyunggi Provincial Hospital for Elderly) ;
  • Suh, Young Ju (Research division of Human Life Science, Seoul National University) ;
  • Seo, Jeong-Sun (Department of Biochemistry and Molecular Biology, College of Medicine, Seoul National University) ;
  • Woo, Jong Inn (Neuroscience Research Institute of the Medical Research Center, Seoul National University, and Clinical Research Institute of Seoul National University Hospital, Department of Neuropsychiatry, Seoul National University, College of Medicine and Seoul National University Hospital)
  • Published : 2004.06.01

Abstract

To examine whether the IL-1A (-889) polymorphism associates with a risk for Alzheimer's disease (AD) and acts interactively with the apolipoprotein (APOE) $\epsilon$4 in the development of AD, we performed genotype analyses of the IL-1A and the APOE of the 102 Korean AD patients and 200 Korean non-demented controls. We failed to detect a significant difference in genotypic and allelic frequencies of IL-1A between the AD group and control group. No overexpression of the IL-1A C/T genotype and IL-1A T allele was found when we analyzed the late-onset and early-onset patients, separately. There was no significant genetic interaction between IL-1A polymorphism and the APOE polymorphism. I n conclusion, the IL-1A polymorphism did not contribute to the development of AD independently or interactively with the APOE $\epsilon$4 allele in Koreans.

Keywords

References

  1. American Psychiatric Association (1994). Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. (Washington DC: American Psychiatric Association)
  2. Cacabelos, R., Barquero, M., Garcia, P., Alvarez, X.A., and Varela de Seijas, E. (1991). Cerebrospinal fluid interleukin-1 beta(IL-1 beta) in Alzheimer's disease and neurological disorders. Methods Find. Exp. Clin. Pharmacol. 13, 455-458
  3. Combarros, O., Sanchez-Guerra, M., Infante, J., Llorca, J., and Berciano, J. (2002). Gene dose-dependent association of interIeukin-1A[-889] allele 2 polymorphism with Alzheimer's disease. J. Neurol. 249,1242-1245 https://doi.org/10.1007/s00415-002-0819-9
  4. Dominici, R., Cattaneo, M., Malferrari, G., Archi, D., Mariani, C., Grimaldi, L.M., and Biunno, I. (2002). Cloning and functional analysis of the allelic polymorphism in the transcription regulatory region of interleukin-1 alpha. Immunogenetics 54, 82-86 https://doi.org/10.1007/s00251-002-0445-9
  5. Du, Y., Dodel, R.C., Eastwood, B.J., Bales, K.R., Gao, F., Lohmuller, F., Muller, U., Kurz, A., Zimmer, R., Evans, R.M., Hake, A., Gasser, T., Oertel, W.H., Griffin, W.S., Paul, S.M., and Farlow, M.R. (2000). Association of an interleukin 1 alpha polymorphism with Alzheimer's disease. Neurology 55, 480-483 https://doi.org/10.1212/WNL.55.4.480
  6. Fidani, L., Goulas, A., Mirtsou, V., Petersen, R.C., Tangalos, E, Crook, R., and Hardy, J. (2002). Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease. Neurosci. Lett. 323, 81-83 https://doi.org/10.1016/S0304-3940(02)00114-3
  7. Green, E.K., Harris, J.M., Lemmon, H., Lambert, J.C., Chartier-Harlin, M.C., St Clair, D., Mann, D.M., Iwatsubo, T., and Lendon, C.L. (2002). Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD? Neurology 58,1566-1568 https://doi.org/10.1212/WNL.58.10.1566
  8. Griffin, W.S., Stanley, L.C., Ling, C., White, L., MacLeod, V., Perrot, L.J., White, C.L. 3rd, and Araoz, C. (1989). Brain interleukin 1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer disease. Proc. Natl. Acad. Sci. USA 86, 7611-7615 https://doi.org/10.1073/pnas.86.19.7611
  9. Grimaldi, L.M., Casadei, V.M., Ferri, C., Veglia, F., Licastro, F., Annoni, G., Biunno, I., De Bellis, G., Sorbi, S., Mariani, C., Canal, N., Griffin, W.S., and Franceschi, M. (2000). Association of early-onset Alzheimer's disease with an interleukin-1 alpha gene polymorphism. Ann. Neurol. 47, 361-365 https://doi.org/10.1002/1531-8249(200003)47:3<361::AID-ANA12>3.0.CO;2-N
  10. Hedley, R., Hallmayer, J., Groth, D.M., Brooks, W.S., Gandy, S.E., and Martins, R.N. (2002). Association of interleukin-1 polymorphisms with Alzheimer's disease in Australia. Ann. Neurol. 51, 795-797 https://doi.org/10.1002/ana.10196
  11. Howell, W.M., Jobs, M., Gyllensten, U., and Brookes, A.J. (1999). Dynamic allele-specific hybridization. A new method for scoring single nucleotide polymorphisms. Nat Biotechnol. 17, 87-88 https://doi.org/10.1038/5270
  12. Ki, C.S., Na, D.L., Kim, D.K., Kim, H.J., and Kim, J.W. (2001). Lack of association of the interleukin-1 alpha gene polymorphism with Alzheimer's disease in a Korean population. Ann. Neurol. 49, 817-818
  13. Kolsch, H., Ptok, U., Bagli, M., Papassotiropoulos, A., Schmitz, S., Barkow, K., Kockler, M., Rao, M.L., Maier, W., and Heun, R. (2001). Gene polymorphisms of interleukin-1alpha influence the course of Alzheimer's disease. Ann. Neurol. 49, 818-819 https://doi.org/10.1002/ana.1068
  14. Kuo, Y.M., Liao, P.C., Lin, C., Wu, C.W., Huang, H.M., Lin, C.C., and Chuo, L.J. (2003). Lack of association between interleukin-1alpha polymorphism and Alzheimer disease or vascular dementia. Alzheimer Dis, Assoc. Disord. 17, 94-97 https://doi.org/10.1097/00002093-200304000-00007
  15. Lee, J.H., Lee, K.U., Lee, D.Y., Kim, K.W., Jhoo, J.H., Kim, J.H., Lee, K.H., Kim, S.Y., Han, S.H., and Woo, J.I. (2002). Development of the Korean version of the Consortium to Establish a Registry for Alzheimer's Disease Assessment Packet (CERAD-K): clinical and neuropsychological assessment batteries. J. Gerontol. B. Psychol. Sci. Soc. Sci. 57, 47-53 https://doi.org/10.1093/geronb/57.1.P47
  16. McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D. and Stadlan, E.M. (1984). Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human services Task Force on Alzheimer's Disease. Neurology 34, 939-944 https://doi.org/10.1212/WNL.34.7.939
  17. Minster, R.L., DeKosky, S.T., Ganguli, M., Belle, S., and Kamboh, M.I. (2000). Genetic association studies of interleukin-1 (IL-1A and IL-1B)and interleukin-l receptor antagonist genes and the risk of Alzheimer's disease. Ann. Neurol. 48, 817-819 https://doi.org/10.1002/1531-8249(200011)48:5<817::AID-ANA22>3.0.CO;2-S
  18. Nicoll, J.A., Mrak, R.E., Graham, D.I., Stewart, J., Wilcock, G., MacGowan, S., Esiri, M.M., Murray, L.S., Dewar, D., Love, S., Moss, T., and Griffin, W.S. (2000). Association of interleukin-1 gene polymorphisms with Alzheimer's disease. Ann. Neurol. 47, 365-268 https://doi.org/10.1002/1531-8249(200003)47:3<365::AID-ANA13>3.0.CO;2-G
  19. Pirskanen, M., Hiltunen, M., Mannermaa, A., livonen, S., Helisalmi, S., Lehtovirta, M., Koivisto, A.M., Laakso, M., Soininen, H., and Alafuzoff, I. (2002). Interleukin 1 alpha gene polymorphism as a susceptibility factor in Alzheimer's disease and its influence on the extent of histopathological hallmark lesions of Alzheimer's disease. Dement. Geriatr. Cogn. Disord. 14,123-127 https://doi.org/10.1159/000063603
  20. Rebeck, G.W. (2000). Confirmation of the genetic association of interleukin-1A with early onset sporadic Alzheimer's disease. Neurosci. Lett. 293, 75-77 https://doi.org/10.1016/S0304-3940(00)01487-7
  21. Rosen, W.G., Terry, R.D., Fuld, P.A., Katzman, R., and Peck, A. (1980). Pathological verification of ischemic score in differentiation of dementias. Ann. Neurol. 7, 486-488 https://doi.org/10.1002/ana.410070516
  22. Sheng, J.G., Ito, K., Skinner, R.D., Mrak, R.E., Rovnaghi, C.R., Van Eldik, L.J., and Griffin, W.S. (1996). In vivo and in vitro evidence supporting a role for the inflammatory cytokine interleukin-1 as a driving force in Alzheimer pathogenesis. Neurobiol. Aging 7, 761-766
  23. Sheng, J.G., Zhu, S.G., Jones, R.A., Griffin, W.S., and Mrak, R.E. (2000). Interleukin-1 promotes expression and phosphorylation of neurofilament and tau proteins in vivo. Exp. Neurol. 163, 388-391 https://doi.org/10.1006/exnr.2000.7393
  24. Tsai, S.J., Liu, H.C., Liu, T.Y., Wang, K.Y., and Hong, C.J (2003). Lack of association between the interleukin-1alpha gene C(-889)T polymorphism and Alzheimer's disease in a Chinese population. Neurosci. Lett. 343, 93-96 https://doi.org/10.1016/S0304-3940(03)00333-1
  25. Wenham, P.R., Price, W.H., and Blandell, G. (1991). Apolipoprotein E genotyping by one-stage PCR. Lancet 337, 1158-1159