Genotypes and haplotypes in the IL-1 gene cluster: Analysis of two genetically and diagnostically distinct groups of Alzheimer patients

Neurobiology of Aging

Volumn 26, Issue 4, 2005, Pages 455-464

  Seripa, Davide ^a   Matera, Maria G ^a   Forno, Gloria Dal ^b   Gravina, Carolina ^a   Masullo, Carlo ^c   Daniele, Antonio ^c   Binetti, Giuliano ^d   Bonvicini, Cristian ^d   Squitti, Rosanna ^e   Palermo, Mark T ^f   Davis, Daron G ^g   Antuono, P ^h   Wekstein, David R ⁱ   Dobrina, Aldo ^j   Gennarelli, Massimo ^d,k   Fazio, Vito M ^a,b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b Camp Bio Medico Univ Sch of Med   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d IRCCS ISTITUTO CENTRO SAN GIOVANNI DI DIO FATEBENEFRATELLI   (Italy)

^e FATEBENEFRATELLI HOSPITAL   (Italy)

^f Associazione Anni Verdi   (Italy)

^g UNIVERSITY OF KENTUCKY   (United States)

^h MEDICAL COLLEGE OF WISCONSIN   (United States)

ⁱ UNIVERSITY OF KENTUCKY   (United States)

^j UNIVERSITY OF TRIESTE   (Italy)

^k UNIVERSITY OF BRESCIA   (Italy)

more..

Author keywords

Alzheimer's disease; Gene polymorphism; Haplotype; IL 1; Interleukin 1; Single nucleotide polymorphism; SNP

Indexed keywords

INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA;

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; CAUCASIAN; CONFIDENCE INTERVAL; CONTROLLED STUDY; FEMALE; GENE CLUSTER; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HAPLOTYPE; HETEROZYGOTE; HUMAN; INTRON; ITALY; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; POPULATION GENETICS; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED STATES; VARIABLE NUMBER OF TANDEM REPEAT;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; ANALYSIS OF VARIANCE; CHI-SQUARE DISTRIBUTION; CLUSTER ANALYSIS; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INTERLEUKIN-1; ITALY; LINKAGE DISEQUILIBRIUM; MIDDLE AGED; MINISATELLITE REPEATS; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RISK FACTORS; RNA, MESSENGER; STATISTICS, NONPARAMETRIC; UNITED STATES;

EID: 19944428425     PISSN: 01974580     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2004.04.001     Document Type: Article

References (68)

1. Bauer J., Strauss S., Schreiter-Gasser U., Ganter U., Schlegel P., Witt I., et al. Interleukin-6 and alpha-2-macroglobulin indicate an acute-phase state in Alzheimer's disease cortices. FEBS Lett. 285(1):1991;111-114
2. Betram L., Tanzi R.E. Dancing in the dark? The status of late-onset Alzheimer's disease genetics. J. Mol. Neurosci. 17(2):2001;127-136
3. Betram L., Tanzi R.E. Of replications and refutations: the status of Alzheimer's disease genetic research. Curr. Neurol. Neurosci. Rep. 1(5):2001;442-450
4. Bioque G., Crusius J.B., Koutroubakis I., Bouma G., Kostense P.J., Meuwissen S.G., et al. Allelic polymorphism in IL-1 beta and IL-1 receptor antagonist (IL-1Ra) genes in inflammatory bowel disease. Clin. Exp. Immunol. 102(2):1995;379-383
5. Breitner J.C., Gau B.A., Welsh K.A., Plassman B.L., McDonald W.M., Helms M.J., et al. Inverse association of anti-inflammatory treatments and Alzheimer's disease: initial results of a co-twin control study. Neurology. 44(2):1994;227-232
6. Casagrande J.T., Pike M.C. An improved approximate formula for calculating sample sizes for comparing two binomial distributions. Biometrics. 34(3):1978;483-486
7. Comings D.E., MacMurray J.P. Molecular heterosis: a review. Mol. Genet. Metab. 71:2000;19-31
8. Corder E.H., Saunders A.M., Strittmatter W.J., Schmechel D.E., Gaskell P.C., Small G.W., et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 261(5123):1993;921-923
9. di Giovine F.S., Takhsh E., Blakemore A.I., Duff G.W. Single base polymorphism at -511 in the human interleukin-1 beta gene (IL1 beta). Hum. Mol. Genet. 1(6):1992;450
10. Dickson D.W., Lee S.C., Mattiace L.A., Yen S.H., Brosnan C. Microglia and cytokines in neurological disease, with special reference to AIDS and Alzheimer's disease. Glia. 7(1):1993;75-83
11. Dinarello C.A. Biologic bases for interleukin-1 in disease. Blood. 87(6):1996;2095-2147
12. Dow D.J., Lindsey N., Cairns N.J., Brayne C., Robinson D., Huppert F.A., et al. Alpha-2 macroglobulin polymorphism and Alzheimer disease risk in the UK. Nat. Genet. 22(1):1999;16-17
13. Du Y., Dodel R.C., Eastwood B.J., Bales K.R., Gao F., Lohmuller F., et al. Association of an interleukin-1 alpha polymorphism with Alzheimer's disease. Neurology. 55(4):2000;480-483
14. Echeverria V., Cuello A.C. Intracellular A-beta amyloid, a sign for worse thing to come? Mol. Neurobiol. 26(2/3):2002;299-316
15. Fidani L., Goulas A., Mirtsou V., Petersen R.C., Tangalos E., Crook R., et al. Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease. Neurosci Lett. 323(1):2002;81-83
16. Gerdes L.A., Klausen I.B., Sihm I., Færgeman O. Apoliporpotein E polymorphism in a Danish population compared to findings in 45 other study populations around the world. Genet Epidemiol. 9(3):1992;155-167
17. Green E.K., Harris J.M., Lemmon H., Lambert J.C., Chartier-Harlin M.C., St Clair D., et al. Are interleukin-1 gene polymorphisms risk factors or disease modifiers in AD? Neurology. 58(10):2002;1566-1568
18. Griffin W.S., Sheng J.G., Roberts G.W., Mrak R.E. Interleukin-1 expression in different plaque types in Alzheimer's disease: significance in plaque evolution. J Neuropathol Exp Neurol. 54(2):1995;276-281
19. Griffin W.S., Stanley L.C., Ling C., White L., MacLeod V., Perrot L.J., et al. Brain interleukin 1 and S-100 immunoreactivity are elevated in Down syndrome and Alzheimer disease. Proc. Natl. Acad. Sci. USA. 86(19):1989;7611- 7615
20. Grimaldi L.M., Casadei V.M., Ferri C., Veglia F., Licastro F., Annoni G., et al. Association of early-onset Alzheimer's disease with an interleukin-1alpha gene polymorphism. Ann. Neurol. 47(3):2000;361-365
21. Haass C. Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease. Curr Opin Neurol. 9(4):1996;254-259
22. Hedley R., Hallmayer J., Groth D.M., Brooks W.S., Gandy S.E., Martins R.N. Association of interleukin-1 polymorphisms with Alzheimer's disease in Australia. Ann Neurol. 51(6):2002;795-797
23. Hull M., Strauss S., Berger M., Volk B., Bauer J. Inflammatory mechanisms in Alzheimer's disease. Eur Arch Psychiatry Clin Neurosci. 246(3):1996;124-128
24. Hurme M., Santtila S. IL-1 receptor antagonist (IL-1Ra) plasma levels are co-ordinately regulated by both IL-1Ra and IL-1beta genes. Eur J Immunol. 28(8):1998;2598-2602
25. Kamboh M.I., Sanghera D.K., Ferrel R.E., DeKosky S.T. APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism. Nat Genet. 10(4):1995;486-488
26. Katila H., Hanninen K., Hurme M. Polymorphisms of the interleukin-1 gene complex in schizophrenia. Mol Psychiatry. 4(2):1999;179-181
27. Kehoe P.G., Russ C., McIlory S., Williams H., Holmans P., Holmes C., et al. Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease. Nat Genet. 21(1):1999;71-72
28. Khachaturian Z.S. Diagnosis of Alzheimer's disease. Arch Neurol. 42(11):1985;1097-1105
29. Khachaturian Z.S. Towards a comprehensive theory of Alzheimer's disease - challenges. Ann N Y Acad Sci. 924:2000;184-193
30. Ki C.S., Na D.L., Kim D.K., Kim H.J., Kim J.W. Lack of association of the interleukin-1 alpha gene polymorphism with Alzheimer's disease in a Korean population. Ann Neurol. 49(6):2001;817-818
31. Kolsch H., Ptok U., Bagli M., Papassotiropoulos A., Schmitz S., Barkov K., et al. Gene polymorphisms of interleukin-1 alpha influence the course of Alzheimer's disease. Ann Neurol. 49(6):2001;818-819
32. Mansfield J.C., Holden H., Tarlow J.K., Di Giovine F.S., McDowell T.L., Wilson A.G., et al. Novel genetic association between ulcerative colitis and the anti-inflammatory cytokine interleukin-1 receptor antagonist. Gastroenterology. 106(3):1994;637-642
33. Mayeux R., Saunders A.M., Shea S., Mirra S., Evans D., Roses A.D., et al. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease. New Engl J Med. 338(8):1998;506-511
34. McDowell T.L., Symons J.A., Ploski R., Forre O., Duff G.W. A genetic association between juvenile rheumatoid arthritis and a novel interleukin-1 alpha polymorphism. Arthritis Rheum. 38(2):1995;221-228
35. McGeer P.L., Kawamata T., Walker D.G., Akiyama H., Tooyama I., McGeer E.G. Microglia in degenerative neurological disease. Glia. 7(1):1993;84-92
36. McGeer P.L., McGeer E.G. Polymorphisms in inflammatory genes and the risk of Alzheimer disease. Arch Neurol. 58(11):2001;1790-1792
37. McKhann G., Drachmann D., Folstein M., Katzman R., Price D., Stadlan E.M. 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(7):1984;939-944
38. Minagar A., Shapshak P., Fujimura R., Ownby R., Heyes M., Eisdorfer C. The role of macophage/microglia and astrocytes in the pathogenesis of three neurologic disorders: HIV-associated dementia, Alzheimer disease, and multiple sclerosis. J Neurol Sci. 202(1-2):2002;13-23
39. Minster R.L., DeKosky S.T., Ganguli M., Belle S., Kamboh M.I. Genetic association studies of interleukin-1 (IL-1A and IL-1B) and interleukin-1 receptor antagonist genes and the risk of Alzheimer's disease. Ann Neurol. 48(5):2000;817-819
40. Morishima-Kawashima M., Ihara Y. Alzheimer's disease: beta-amyloid protein and tau. J Neurosci Res. 70(3):2002;392-401
41. Murphy G.M. Jr., Claassen J.D., DeVoss J.J., Pascoe N., Taylor J., Tinklenberg J.R., et al. Rate of cognitive decline in AD is accelerated by the interleukin-1 alpha -889*1 allele. Neurology. 56(11):2001;1595-1597
42. Nalbantoglu J., Gilfix B.M., Bertrand P., Robitaille Y., Gauthier S., Rosenblatt D.S., et al. Predictive value of apolipoprotein E genotyping in Alzheimer's disease: results of an autopsy series and an analysis of several combined studies. Ann Neurol. 36(6):1994;889-895
43. Nicoll J.A., Mrak R.E., Graham D.I., Stewart J., Wilcock G., MacGowan S., et al. Association of interleukin-1 gene polymorphisms with Alzheimer's disease. Ann Neurol. 47(3):2000;365-368
44. Pirskanen M., Hiltunen M., Mannermaa A., Livonen S., Helisami S., Lehtovirta M., et al. 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(3):2002;123-127
45. Plassman B.L., Breitner J.C. Recent advances in the genetics of Alzheimer's disease and vascular dementia with an emphasis on gene-environment interactions. J. Am Geriatr Soc. 44(10):1996;1242-1250
46. Pociot F., Molvig J., Wogensen L., Worsaae H., Nerup J. A TaqI polymorphism in the human interleukin-1 beta (IL-1 beta) gene correlates with IL-1 beta secretion in vitro. Eur J Clin Invest. 22(6):1992;396-402
47. Preparation and analysis of DNA. In: Ausubel FM, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K, editors. Current Protocols in Molecular Biology, vol. 1. John Wiley & Sons; 2000.
48. Rasmusson D.X., Brandt J., Steele C., Hedreen J.C., Troncoso J.C., Folstein M.F. Accuracy of clinical diagnosis of Alzheimer disease and clinical features of patients with non-Alzheimer disease neuropathology. Alzheimer Dis Assoc Disord. 10(4):1996;180-188
49. Rebeck G.W. Confirmation of the genetic association of interleukin-1A with early onset sporadic Alzheimer's disease. Neurosci Lett. 293(1):2000;75-77
50. Regland B., Blennow K., Germgard T., Koch-Schmidt A.C., Gottfries C.G. The role of the polymorphic genes apolipoprotein E and methylenetetrahydrofolate reductase in the development of dementia of the Alzheimer type. Dement Geriatr Cogn Disord. 10(4):1999;245-251
51. Rogers J.T., Leiter L.M., McPhee J., Cahill C.M., Zhan S.S., Potter H., et al. Translation of the Alzheimer amyloid precursor protein mRNA is up-regulated by interleukin-1 through 5′-untranslated region sequences. J Biol Chem. 274(10):1999;6421-6431
52. Roses A.D. Apolipoprotein E genotyping in the differential diagnosis, not prediction, of Alzheimer's disease. Ann Neurol. 38(1):1995;6-14
53. Santtila S., Savinainen K., Hurme M. Presence of the IL-1RA allele 2 (IL1RN*2) is associated with enhanced IL-1beta production in vitro. Scand J Immunol. 47(3):1998;195-198
54. Schneider S, Roessli D, Excoffier L. Arlequin Version 2.001: a software for population genetics data analysis. Switzerland: Genetics and Biometry Laboratory, University of Geneva; 2000.
55. Sciacca F.L., Ferri C., Vandenbroeck K., Veglia F., Gobbi C., Martinelli F., et al. Relevance of interleukin 1 receptor antagonist intron 2 polymorphism in Italian MS patients. Neurology. 52(9):1999;1896-1898
56. Selkoe D.J., Podlisny M.B. Deciphering the genetic basis of Alzheimer's disease. Annu Rev Genomics Hum Genet. 3:2002;67-99
57. Seripa D., Dobrina A., Margaglione M., Gravina C., matera M.G., Vecile E., et al. Relevance of interleukin-1 receptor intron-2 polymorphism in ischemic stroke. Cerebrovasc Dis. 15(4):2003;276-281
58. Seshadri S., Beiser A., Selhub J., Jacques P.F., Rosenberg I.H., D'Agostino R.B., et al. Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. N Engl J Med. 346(7):2002;476-483
59. Silverman J.M., Raiford K., Edland S., Fillenbaum G., Morris J.C., Clark C.M., et al. The consortium to establish a registry for Alzheimer's disease (CERAD). Part IV. Family history assessment: a multicenter study of first-degree relatives of Alzheimer's disease probands and nondemented spouse controls. Neurology. 44(7):1994;1253-1259
60. Steinkasserer A., Spurr N.K., Cox S., Jeggo P., Sim R.B. The human IL-1 receptor antagonist gene (IL1RN) maps to chromosome 2q14-21, in the region of the IL-1 alpha and IL-1 beta loci. Genomics. 13(3):1992;654-657
61. Stewart W., Kawas C., Corrada M., Metter E.J. Risk of Alzheimer's disease and duration of NSAID use. Neurology. 48(3):1997;626-632
62. Strittmatter W.J., Saunders A.M., Schmechel D., Pericak-Vance M., Enghild J., Salvesen G.S., et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer's disease. Proc Natl Acad Sci USA. 90(5):1993;1977-1981
63. Tandon A, Fraser P. The presenilins. Genome Biol 2002;3(11) [reviews 3014].
64. Tarlow J.K., Blakemore A.I., Lennard A., Solari R., Hughes H.N., Steinkasserer A., et al. Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat. Hum Genet. 91(4):1993;403-404
65. Van Broeckhoven C. Presenilins and Alzheimer disease. Nat Genet. 11(3):1995;230-232
66. van den Velden P.A., Reitsma P.H. Amino acid dimorphism in IL1A is detectable by PCR amplification. Hum. Mol. Genet. 2(10):1993;1753
67. Wang X.Y., Hurme M., Jylha M., Hervonen A. Lack of associaton between human longevity and polymorphisms of IL-1 clusterr, IL-6, IL-10 and TNF-alpha genes in Finnish nonagenarians. Mech. Ageing Dev. 123(1):2001;29-38
68. Yasuhara O., Matsuo A., Terai K., Walker D.G., Berger A.E., Akiguchi I., et al. Expression of interleukin-1 receptor antagonist protein in post-mortem human brain tissues of Alzheimer's disease and control cases. Acta. Neuropathol. (Berlin). 93(4):1997;414-420