Lack of association of catechol-O-methyltransferase (COMT) functional polymorphism in bipolar affective disorder

Psychiatric Genetics

Volumn 7, Issue 1, 1997, Pages 13-17

  Lachman, H M ^a   Kelsoe, J ^b   Moreno, L ^a   Katz, S ^a   Papolos, D F ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Bipolar disorder; Catechol O methyltransferase; Manic depressive illness; Velo cardio facial syndrome

Indexed keywords

AMINO ACID; CATECHOL METHYLTRANSFERASE; CATECHOLAMINE; METHIONINE; VALINE;

ALLELE; ARTICLE; CATECHOLAMINE METABOLISM; CODON; CONTROLLED STUDY; ENZYME ACTIVITY; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MANIC DEPRESSIVE PSYCHOSIS; PRIORITY JOURNAL;

EID: 0030739593     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/00041444-199700710-00002     Document Type: Article

References (39)

1. Aksoy S, Klener J and Weinshilboum RM (1993) Catechol-O-methyltransferase pharmacogenetics: photoaffinity labelling and Western blot analysis of human liver samples. Pharmacogenetics, 3, 116-122.
2. Axelrod J and Tomchick R (1958) Enzymatic O-methylation of epinephrine and other catechols. Journal of Biological Chemistry, 233, 702-705.
3. Baldessarini RJ (1975) The basis for amine hypothesis in affective disorders: a critical evaluation. Archives of General Psychiatry, 32, 1087-1093.
4. Bertelsen A, Harvald B and Hauge M (1977) A Danish twin study of manic depressive disorders. British Journal of Psychiatry, 130, 330-351.
5. Bertocci B, Miggiano V, Da Prada M, Dembric Z, Lahm H-W and Malherbe P (1991) Human catechol-O-methyltransferase: cloning and expression of the membrane associated form. Proceedings of the National Academy of Sciences, 88, 1416-1320.
6. Boudikova B, Szumlanski C, Maidak B and Weinshilboum RM (1990) Human liver catecholamine-O-methyltransferase pharmacogenetics. Clinical Pharmacological Therapeutics, 48, 381-389.
7. Byerley W, Hoff M, Holik J and Coon H (1994) A linkage study with D5 dopamine and alpha 2C-adrenergic receptor genes in six multiplex bipolar pedigrees. Psychiatric Genetics, 4, 121-124.
8. Chow EWC, Bassett AS and Weksberg R (1994) Velocardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. American Journal of Medical Genetics, 54, 107-112.
9. De bruyn A, Mendelbaum K, Sandkuijl LA, Delvenne V, Hirsch D, Staner L, Mendlewicz J and Van Broeckhoven C (1994) Nonlinkage of bipolar illness to tyrosine hydroxylase, tyrosinase, and D2 and D4 dopamine receptor genes on chromosome 11. American Journal of Psychiatry, 151, 102-106.
10. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackni EH and Emanuel BS (1993) Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndrome: implications for genetic counselling and prenatal diagnosis. Journal of Medical Genetics, 30, 813-817.
11. Dunner DL, Levitt M, Kumbaraci T and Fieve RR (1977) Erythrocyte catechol-O-methyltransferase activity in primary affective disorder. Biological Psychiatry, 12, 237-244.
12. Ewald H, Mors O, Friedrich U, Flint T and Kruse T (1994) Exclusion of linkage between manic depressive illness and tyrosine hydroxylase and dopamine D2 receptor genes. Psychiatric Genetics, 4, 13-22.
13. Faraone SV, Kremen WS and Tsuang MT (1990) Genetic transmission of major affective disorders: Quantitative models and linkage analysis. Psychological Bulletin, 108, 109-127.
14. Gershon ES, Hamovit J, Guroff JJ, Dibble E, Leckman JF, Sceery W, Targum SD, Nurnberger JI, Goldin LR and Bunney WE (1982) A family study of schizoaffective bipolar I, bipolar II, unipolar and normal control probands. Archives of General Psychiatry, 39, 1157-1167.
15. Grossman MH, Emanual BS and Budarf ML (1992) Chromosomal mapping of the human catechol-O-methyl-transferase gene to 22q11.1-q11.2. Genomics, 12, 822-825.
16. Holmes D, Byrnjolfsson J, Brett P, Curtis D, Petursson H, Sherrington R and Gurling H (1991) No evidence for a susceptibility locus predisposing to manic depression in the region of the dopamine D2 receptor gene. British Journal of Psychiatry, 158, 635-641.
17. Karege F, Bovier J-M and Tissot R (1987) The decrease of erythrocyte catechol-O-methyltransferase activity in depressed patients and its diagnostic significance. Acta Psychiatrica Scandinavia, 76, 303-308.
18. Lachman HL, Papolos DF, Saito T, Yu YM, Szumlanski CL and Weinshilboum RM (1996a) Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatrie disorders. Pharmacogenetics, 6, 243-250.
19. Lachman HL, Morrow B, Shprintzen R, Veil S, Parsia S, Faedda G, Goldberg R, Kucherlapati R and Papolos D (1996b) Association of codon 108/158 catechol-O-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. American Journal of Medical Genetics (Neuropsychiatric Genetics), 67, 468-472.
20. Le F, Mitchell P, Vivero C, Waters B, Donald J, Selbie LA, Shine J and Schofield P (1994) Exclusion of close linkage of bipolar disorder to the Gs-alpha subunit gene in nine Australian Pedigrees. Journal of Affective Disorders, 32, 187-195.
21. Lindsay EA, Goldberg RK, Jurecic V, Morrow B, Carlson C, Kucherlapati R, Shprintzen RJ and Baldini A (1995) Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions. American Journal of Medical Genetics, 57, 514-522.
22. Lotta T, Vidgren J, Tilgmann C, Umanen I, Melen K, Julkunen I and Taskinen J (1995) Kinetics of human soluble and membrane bound catechol-O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry, 34, 4202-4210.
23. Lundstrom K, Salminen M, Jalanko A, Savolainen R and Ulmanen I (1991) Cloning and characterization of human placental catechol-O-methyltransferase cDNA. DNA and Cell Biology, 10, 181-189.
24. McGuffin P (1988) Major genes for major affective disorder? British Journal of Psychiatry, 153, 591-596.
25. Mitchell P, Selbie L, Waters B, Donald J, Vivero C, Tully M and Shine J (1992) Exclusion of close linkage of bipolar disorder to D1 and D2 receptor gene markers. Journal of Affective Disorders, 25, 1-12.
26. Mirow AL, Kristbjanarson H, Egeland JA, Shilling P, Helgason T, Gillin JC, Hirsch S and Kelsoe JR (1994) A linkage study of distal chromosome 5q and bipolar disorder. Biological Psychiatry, 36, 223-229.
27. Morrow B, Goldberg R, Carlson C, Gupta RD, Sirotkin H, Collins J, Dunham I, O'Donnell H, Scambler P, Shprintzen R and Kucherlapati R (1995) Molecular definition of the 22q11 deletions in velo-cardio facial syndrome. American Journal of Human Genetics, 56, 1391-1403.
28. Papolos DF, Faedda G, Veit S, Goldberg R, Morrow B, Kucherlapati R and Shprintzen R (1996) Bipolar affective disorder in patients diagnosed with velo-cardiofacial-syndrome: does hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? American Journal of Psychiatry, 153, 1541-1547.
29. Philippu C, Hoo JJ, Milech U, Argarwall DP, Schrappe O and Goedde HW (1981) Catechol-O-methyltransferase activity of erythrocytes in patients with endogenous psychosis. Psychiatry Research, 4, 139-146.
30. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D and Kucherlapati R (1994) Psychotic illness in patients diagnosed with velo-cardio facial syndrome and their relatives. Journal of Nervous and Mental Disease, 182, 476-478.
31. Puzynski S, Bidzinsky A, Mrozek S and Zaluska M (1983) Studies on biogenic amine metabolizing enzymes (DBH, COMT, MAO) and pathogenesis of affective illness. II. erythrocyte catechol-O-methyltransferase activity in endogenous depression. Acta Psychiatrica Scandinavia, 67, 96-100.
32. Scambler P, Kelly DK, Lindsay E, Williamson R, Goldberg R, Shprintzen R and Wilson DI (1992) Velo cardio facial syndrome associated with chromosome 22q11 deletions encompassing the DiGeorge Locus. Lancet, 339, 1138-1139.
33. Scanlon PD, Raymond FA and Weinshilboum RA (1979) Catechol-O-methyltransferase: thermolabile enzyme in erythrocytes of subjects homozygous for the allele for low activity. Science, 203, 63-65.
34. Schildkraut JJ (1965) Catecholamine hypothesis of affective disorders: a review of supporting evidence. American Journal of Psychiatry, 122, 509-522.
35. Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV and Young DA (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate Journal, 15, 56-62.
36. Shprintzen RJ, Goldberg RB, Golding-Kushner KJ and Marion RW (1992) Late-onset psychosis in the velo-cardio-facial syndrome. American Journal of Medical Genetics, 42, 141-142.
37. Spielman RS and Weinshilboum RM (1981) Genetics of red cell COMT activity: analysis of thermal stability and family data. American Journal of Medical Genetics, 10, 279-290.
38. Tenhunen J, Salminen M, Lundstrom K, Kiviluoto T, Savolainen R and Ulmanen I (1994) Genomic organization of the human catechol-O-methyltransferase gene and its expression from two distinct promoters. European Journal of Biochemistry, 223, 1049-1054.
39. Weinshilboum RM and Raymond FA (1977) Inheritance of low erythrocyte catechol-O-methyltransferase activity in man. American Journal of Human Genetics, 29, 125-135.