Neurobiology of Aging
Volume 28, Issue 8 , Pages 1231-1238 , August 2007

Haplotypes in cathechol-O-methyltransferase gene confer increased risk for psychosis in Alzheimer disease

  • B. Borroni

      Affiliations

    • Center for Aging Brain and Dementia, Department of Neurology, University of Brescia, Italy
    • Corresponding Author InformationCorresponding author at: Clinica Neurologica, Università degli Studi di Brescia, Pza Spedali Civili, 1-25100 Brescia, Italy. Tel.: +39 0303995632; fax: +39 0303995027.
  • ,
  • M. Grassi

      Affiliations

    • Department of Health Sciences, Section of Medical Statistics & Epidemiology, University of Pavia, Italy
  • ,
  • C. Costanzi

      Affiliations

    • Center for Aging Brain and Dementia, Department of Neurology, University of Brescia, Italy
  • ,
  • M. Zanetti

      Affiliations

    • Center for Aging Brain and Dementia, Department of Neurology, University of Brescia, Italy
  • ,
  • S. Archetti

      Affiliations

    • III Laboratory of Biotechnology, University of Brescia, Italy
  • ,
  • S. Franzoni

      Affiliations

    • Alzheimer Centre, Palazzolo S/O, Brescia, Italy
  • ,
  • L. Caimi

      Affiliations

    • III Laboratory of Biotechnology, University of Brescia, Italy
  • ,
  • A. Padovani

      Affiliations

    • Center for Aging Brain and Dementia, Department of Neurology, University of Brescia, Italy

Received 2 March 2006 ,Revised 16 May 2006 ,Accepted 21 May 2006.

References 

  1. Akil M, Kolachana BS, Rothmond DA, Hyde TM, Weinberger DR, Kleinman JE. Catechol-O-methyltransferase genotype and dopamine regulation in the human brain. J Neurosci. 2003;23(6):2008–2013
  2. American Psychiatry Association. Diagnostic and Statistical Manual of Mental Disorders, 4th ed. Washington DC, 1994.
  3. Bacanu SA, Devlin B, Chowdari KV, DeKosky ST, Nimgaonkar VL, Sweet RA. Heritability of psychosis in Alzheimer disease. Am J Geriatr Psychiatry. 2005;13(7):624–627
  4. Ballard CG, O’Brien JT, Coope B, Wilcock G. Psychotic symptoms in dementia and the rate of cognitive decline. J Am Geriatr Soc. 1997;45(8):1031–1032
  5. Borroni B, Agosti C, Archetti S, Costanzi C, Bonomi S, Ghianda D, et al. Catechol-O-methyltransferase gene polymorphism is associated with risk of psychosis in Alzheimer disease. Neurosci Lett. 2004;370(2/3):127–129
  6. Borroni B, Grassi M, Agosti C, Costanzi C, Archetti S, Franzoni S, et al. Genetic correlates of behavioral endophenotypes in Alzheimer disease: role of COMT, 5-HTTLPR and APOE polymorphisms. Neurobiol Aging 2005 [Epub ahead of print].
  7. Borroni B, Grassi M, Agosti C, Archetti S, Costanzi C, Cornali C, et al. Cumulative effect of COMT and 5-HTTLPR polymorphisms and their interaction with disease severity and comorbidities on the risk of psychosis in Alzheimer disease. Am J Geriatr Psychiatry. 2006;14(4):343–351
  8. Bray NJ, Buckland PR, Williams NM, Williams HJ, Norton N, Owen MJ, et al. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet. 2003;73(1):152–161
  9. Burke WJ, Miller JP, Rubin EH, Morris JC, Coben LA, Duchek J, et al. Reliability of the Washington University clinical dementia rating. Arch Neurol. 1988;45(1):31–32
  10. Chen X, Wang X, O’Neill AF, Walsh D, Kendler KS. Variants in the catechol-O-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families. Mol Psychiatry. 2004;9(10):962–967
  11. Cummings JL, Mega M, Gray K, Rosenberg-Thompson S, Carusi DA, Gornbein J. The neuropsychiatric inventory: comprehensive assessment of psychopathology in dementia. Neurology. 1994;44(12):2308–2314
  12. Cummings JL. Cognitive and behavioral heterogeneity in Alzheimer's disease: seeking the neurobiological basis. Neurobiol Aging. 2000;21(6):845–861
  13. Eror EA, Lopez OL, Dekosky ST, Sweet RA. Alzheimer disease subjects with psychosis have increased schizotypical symptoms before dementia onset. Biol Psychiatry. 2005;58(4):325–330
  14. Folstein MF, Folstein SE, McHugh PR. Mini-mental state. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12(3):189–198
  15. Funke B, Malhotra AK, Finn CT, Plocik AM, Lake SL, Lencz T, et al. COMT genetic variation confers risk for psychotic and affective disorders: a case control study. Behav Brain Funct. 2005;1:19
  16. Glatt SJ, Faraone SV, Tsuang MT. Association between a functional catechol O-methyltransferase gene polymorphism and schizophrenia: meta-analysis of case-control and family-based studies. Am J Psychiatry. 2003;160(3):469–476
  17. Gogos JA, Morgan M, Luine V, Santha M, Ogawa S, Pfaff D, et al. Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci USA. 1998;95(17):9991–9996
  18. Handoko HY, Nyholt DR, Hayward NK, Nertney DA, Hannah DE, Windus LC, et al. Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia. Mol Psychiatry. 2005;10(6):589–597
  19. Hill WG. Estimation of linkage disequilibrium in randomly mating populations. Heredity. 1974;33:229–239
  20. Lawton MP, Broody EM. Assessment of older people: self-maintaining and instrumental activities of daily living. The Gerontologist. 1969;9:179–186
  21. Lee SG, Joo Y, Kim B, Chung S, Kim HL, Lee I, et al. Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans. Hum Genet. 2005;116(4):319–328
  22. Leroi I, Voulgari A, Breitner JC, Lyketsos CG. The epidemiology of psychosis in dementia. Am J Geriatr Psychiatry. 2003;11(1):83–91
  23. Li SS, Khalid N, Carlson C, Zhao LP. Estimating haplotype frequencies and standard errors for multiple single nucleotide polymorphisms. Biostatistics. 2003;4(4):513–522
  24. Lopez OL, Wisniewski SR, Becker JT, Boller F, DeKosky ST. Psychiatric medication and abnormal behavior as predictors of progression in probable Alzheimer disease. Arch Neurol. 1999;56(10):1266–1272
  25. Lyketsos CG, Lopez O, Jones B, Fitzpatrick AL, Breitner J, DeKosky S. Prevalence of neuropsychiatric symptoms in dementia and mild cognitive impairment: results from the cardiovascular health study. JAMA. 2002;288(12):1475–1483
  26. Mahoney FI, Barthel DW. Functional evaluation: the Barthel index. Maryland State Med J. 1965;14:61–65
  27. Matsumoto M, Weickert CS, Beltaifa S, Kolachana B, Chen J, Hyde TM, et al. Catechol-O-methyltransferase (COMT) mRNA expression in the dorsolateral prefrontal cortex of patients with schizophrenia. Neuropsychopharmacology. 2003;28(8):1521–1530
  28. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. 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. 1984;34(7):939–944
  29. Ostling S, Johansson B, Skoog I. Cognitive test performance in relation to psychotic symptoms and paranoid ideation in non-demented 85-year-olds. Psychol Med. 2004;34(3):443–450
  30. Palmatier MA, Pakstis AJ, Speed W, Paschou P, Goldman D, Odunsi A, et al. COMT haplotypes suggest P2 promoter region relevance for schizophrenia. Mol Psychiatry. 2004;9(9):859–870
  31. Sasieni PD. From genotypes to genes: doubling the sample size. Biometrics. 1997;53:1253–1261
  32. Shifman S, Bronstein M, Sternfeld M, Pisante-Shalom A, Lev-Lehman E, Weizman A, et al. A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet. 2002;71(6):1296–1302
  33. Shifman S, Bronstein M, Sternfeld M, Pisante A, Weizman A, Reznik I, et al. COMT: a common susceptibility gene in bipolar disorder and schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2004;128(1):61–64
  34. Stern Y, Mayeux R, Sano M, Hauser WA, Bush T. Predictors of disease course in patients with probable Alzheimer's disease. Neurology. 1987;37(10):1649–1653
  35. Sweet RA, Nimgaonkar VL, Devlin B, Jeste DV. Psychotic symptoms in Alzheimer disease: evidence for a distinct phenotype. Mol Psychiatry. 2003;8(4):383–392
  36. Sweet RA, Devlin B, Pollock BG, Sukonick DL, Kastango KB, Bacanu SA, et al. Catechol-O-methyltransferase haplotypes are associated with psychosis in Alzheimer disease. Mol Psychiatry. 2005;10(11):1026–1036
  37. Tunbridge EM, Bannerman DM, Sharp T, Harrison PJ. Catechol-O-methyltransferase inhibition improves set-shifting performance and elevates stimulated dopamine release in the rat prefrontal cortex. J Neurosci. 2004;24(23):5331–5335
  38. Van Rossum JM, Janssen PA, Boissier JR, Julou L, Loew DM, Moller Nielsen I, et al. The neuroleptics 3, Pharmacology. Introduction. Mod Probl Pharmacopsychiatry. 1970;5:23–32
  39. Weinshilboum RM, Otterness DM, Szumlanski CL. Methylation pharmacogenetics: catechol-O-methyltransferase, thiopurine methyltransferase, and histamine N-methyltransferase. Annu Rev Pharmacol Toxicol. 1999;39:19–52
  40. Zhao LP, Li SS, Khalid N. A method for the assessment of disease associations with single-nucleotide polymorphism haplotypes and environmental variables in case-control studies. Am J Hum Genet. 2003;72(5):1231–1250

PII: S0197-4580(06)00184-9

doi: 10.1016/j.neurobiolaging.2006.05.027

Neurobiology of Aging
Volume 28, Issue 8 , Pages 1231-1238 , August 2007