A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain

American Journal of Human Genetics

Volumn 73, Issue 1, 2003, Pages 152-161

  Bray, Nicholas J ^a   Buckland, Paul R ^a   Williams, Nigel M ^a   Williams, Hywel J ^a   Norton, Nadine ^a   Owen, Michael J ^a   O'Donovan, Michael C ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOL METHYLTRANSFERASE; CIS ACTING ELEMENT; MESSENGER RNA;

ARTICLE; BRAIN; CASE CONTROL STUDY; CHROMOSOME 22Q; CHROMOSOME DELETION; DNA FLANKING REGION; DNA POLYMORPHISM; DOPAMINE METABOLISM; GENE EXPRESSION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; VELOCARDIOFACIAL SYNDROME;

EID: 0038389841     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/376578     Document Type: Article

References (26)

1. Axelrod J, Tomchick R (1958) Enzymatic O-methylation of epinephrine and other catechols. J Biol Chem 233:702-705
2. Carlsson A (1978) Mechanism of action of neuroleptic drugs. In: Lipton MA, DiMascio A. Killam KF (eds) Psychopharmacology: a generation of progress. Raven Press, New York, pp 1057-1070
3. Cowles CR, Joel NH, Altshuler D, Lander ES (2002) Detection of regulatory variation in mouse genes. Nat Genet 32:432-437
4. Daniels JK, Williams NM, Williams J, Jones LA, Cardno AG, Murphy KC, Spurlock G, Riley B, Scambler P, Asherson P, McGuffin P, Owen MJ (1996) No evidence for allelic association between schizophrenia and a polymorphism determining high or low catechol O-methyltransferase activity. Am J Psychiatry 153:268-270
5. Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, Goldman D, Weinberger DR (2001) Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci USA 98:6917-6922
6. Grossman MH, Creveling CR, Rybczynski R, Braverman M, Isersky C, Breakefield XO (1985) Soluble and particulate forms of rat catechol-O-methyltransferase distinguished by gel electrophoresis and immune fixation. J Neurochem 44:421-432
7. Grossman MH, Emanuel BS, Budarf ML (1992) Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1-q11.2. Genomics 12:822-825
8. Hoogendoorn B, Norton N, Kirov G, Williams N, Hamshere ML, Spurlock G, Austin J, Stephens MK, Buckland PR, Owen MJ, O'Donovan MC (2000) Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools. Hum Genet 107:488-493
9. Jeffery DR, Roth JA (1984) Characterization of membrane-bound and soluble catechol-O-methyltransferase from human frontal cortex. J Neurochem 42:826-832
10. Kunugi H, Vallada HP, Sham PC, Hoda F, Arranz MJ, Li T, Nanko S, Murray RM, McGuffin P, Owen M, Gill M, Collier DA (1997) Catechol-O-methyltransferase polymorphisms and schizophrenia: a transmission disequilibrium study in multiply affected families. Psychiatr Genet 7:97-101
11. Lachman HM, Papolos DF, Saito T, Yu YM, Szumlanski CL, Weinshilboum RM (1996) Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 6:243-250
12. Li T, Sham PC, Vallada H, Xie T, Tang X, Murray RM, Liu X, Collier DA (1996) Preferential transmission of the high activity allele of COMT in schizophrenia. Psychiatr Genet 6:131-133
13. Liou YJ, Tsai SJ, Hong CJ, Wang YC, Lai IC (2001) Association analysis of a functional catechol-O-methyltransferase gene polymorphism in schizophrenic patients in Taiwan. Neuropsychobiology 43:11-14
14. Lotta T, Vidgren J, Tilgmann C, Ulmanen I, Melen K, Julkunen I, 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
15. Morrow B, Goldberg R, Carlson C, Das Gupta R, Sirotkin H, Collins J, Dunham I, ODonnell H, Scambler P, Shprintzen R, Kucherlapati R (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56:1391-1403
16. Murphy KC, Jones LA, Owen MJ (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiat 56:940-945
17. Norton N, Williams NM, Williams HJ, Spurlock G, Kirov G, Morris DW, Hoogendoorn B, Owen MJ, O'Donovan MC (2002) Universal, robust, highly quantitative SNP allele frequency measurement in DNA pools. Hum Genet 110:471-478
18. Ohmori O, Shinkai T, Kojima H, Terao T, Suzuki T, Mira T, Abe K (1998) Association study of a functional catechol-O-methyltransferase gene polymorphism in Japanese schizophrenics. Neurosci Lett 243:109-112
19. Owen MJ, O'Donovan MC, Gottesman II (2002) Schizophrenia. In: McGuffin P, Owen MJ, Gottesman II (eds) Psychiatric genetics & genomics. Oxford University Press, Oxford, UK, pp 247-266
20. Pulver AE (2000) Search for schizophrenia susceptibility genes. Biol Psychiat 47:221-230
21. Shifman S, Bronstein M, Sternfeld M, Pisanté-Shalom A, Lev-Lehman E, Weizman A, Reznik I, Spivak B, Grisaru N, Karp L, Schiffer R, Kotler M, Strous RD, Swartz-Vanetik M, Knoblet HY, Shinar E, Beckmann JS, Yakir B, Risch N, Zak NB, Darvasi A (2002) A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet 71:1296-1302
22. Singer-Sam J, Chapman V, LeBon JM, Riggs AD (1992) Parental imprinting studied by allele-specific primer extension after PCR: paternal X chromosome-linked genes are transcribed prior to preferential paternal X chromosome inactivation. Proc Natl Acad Sci USA 89:10469-10473
23. Tenhunen J, Salminen M, Lundstrom K, Kiviluoto T, Savolainen R, Ulmanen I (1994) Genomic organization of the human catechol O-methyltransferase gene and its expression from two distinct promoters. Eur J Biochem 223:1049-1059
24. van Rossum JM (1966) The significance of dopamine-receptor blockade for the mechanism of action of neuroleptic drugs. Arch Int Pharmacodyn Ther 160:492-494
25. Yan H, Yuan W, Velculescu VE, Vogelstein B, Kinzler KW (2002) Allelic variation in human gene expression. Science 297:1143
26. Zhao H, Curtis D, Sham PC (2000) Model-free analysis and permutation tests for allelic associations. Hum Hered 50:133-139