The quantification of COMT mRNA in post mortem cerebellum tissue: Diagnosis, genotype, methylation and expression

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Dempster, Emma L ^a   Mill, Jonathan ^a   Craig, Ian W ^a   Collier, David A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOL METHYLTRANSFERASE; MESSENGER RNA; VALINE;

ARTICLE; BIPOLAR DISORDER; CADAVER; CEREBELLUM; CONTROLLED STUDY; CPG ISLAND; DEPRESSION; DNA METHYLATION; FEMALE; GENE EXPRESSION REGULATION; GENE REPLICATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; HUMAN TISSUE; MALE; PATHOPHYSIOLOGY; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN FUNCTION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SAMPLE; SCHIZOPHRENIA; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE;

BIPOLAR DISORDER; CATECHOL O-METHYLTRANSFERASE; CEREBELLUM; DEPRESSIVE DISORDER; DNA METHYLATION; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MENTAL DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA, MESSENGER; SCHIZOPHRENIA; SEX CHARACTERISTICS;

EID: 33646247628     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-10     Document Type: Article

References (38)

1. Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE, Goldman D, Weinberger DR: Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci U S A 2001, 98:6917-6922.
2. Joober R, Gauthier J, Lal S, Bloom D, Lalonde P, Rouleau G, Benkelfat C, Labelle A: Catechol-O-methyltransferase Val-108/158-Met gene variants associated with performance on the Wisconsin Card Sorting Test. Arch Gen Psychiatry 2002, 59:662-663.
3. Malhotra AK, Kestler LJ, Mazzanti C, Bates JA, Goldberg T, Goldman D: A functional polymorphism in the COMT gene and performance on a test of prefrontal cognition. Am J Psychiatry 2002, 159:652-654.
4. Rosa A, Cuesta M, Peralta V, Martinez-Larrea A, Serrano F, Fananas L: New evidence for association between COMT gene and prefrontal neurocognitive functions in schizophrenia. Schizophr Res 2002, 53(Suppl):69.
5. Lewis DA, Melchitzky DS, Sesack SR, Whitehead RE, Auh S, Sampson A: Dopamine transporter immunoreactivity in monkey cerebral cortex: regional, laminar, and ultrastructural localization. J Comp Neurol 2001, 432:119-136.
6. Mazei MS, Pluto CP, Kirkbride B, Pehek EA: Effects of catecholamine uptake blockers in the caudate-putamen and subregions of the medial prefrontal cortex of the rat. Brain Res 2002, 936:58-67.
7. Moron JA, Brockington A, Wise RA, Rocha BA, Hope BT: Dopamine uptake through the norepinephrine transporter in brain regions with low levels of the dopamine transporter: evidence from knock-out mouse lines. J Neurosci 2002, 22:389-395.
8. Lotta T, Vidgren J, Tilgmann C, Ulmanen I, Melen K, Julkunen I, Taskinen J: Kinetics of human soluble and membrane-bound catechol O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry 1995, 34:4202-4210.
9. Lachman HM, Papolos DF, Saito T, Yu YM, Szumlanski CL, Weinshilboum RM: Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996, 6:243-250.
10. Mannisto PT, Kaakkola S: Catechol-O-methyltransferase (COMT): biochemistry, molecular biology, pharmacology, and clinical efficacy of the new selective COMT inhibitors. Pharmacol Rev 1999, 51:593-628.
11. Chen J, Lipska BK, Halim N, Ma QD, Matsumoto M, Melhem S, Kolachana BS, Hyde TM, Herman MM, Apud J, Egan MF, Kleinman JE, Weinberger DR: Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am J Hum Genet 2004, 75:807-821.
12. 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.
13. Li T, Sham PC, Vallada H, Xie T, Tang X, Murray RM, Liu X, Collier DA: Preferential transmission of the high activity allele of COMT in schizophrenia. Psychiatr Genet 1996, 6:131-133.
14. de Chaldee M, Laurent C, Thibaut F, Martinez M, Samolyk D, Petit M, Campion D, Mallet J: Linkage disequilibrium on the COMT gene in French schizophrenics and controls. Am J Med Genet 1999, 88:452-457.
15. Kunugi H, Vallada HP, Sham PC, Hoda F, Arranz MJ, Li T, Nanko S, Murray RM, McGuffin P, Owen M, Gill M, Collier DA: Catechol-O-methyltransferase polymorphisms and schizophrenia: a transmission disequilibrium study in multiply affected families. Psychiatr Genet 1997, 7:97-101.
16. Ohmori O, Shinkai T, Kojima H, Terao T, Suzuki T, Mita T, Abe K: Association study of a functional catechol-O-methyltransferase gene polymorphism in Japanese schizophrenics, Neurosci. Lett 1998, 243:109-112.
17. 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, 160:469-476.
18. Fan JB, Zhang CS, Gu NF, Li XW, Sun WW, Wang HY, Feng GY, Clair D St, He L: Catechol-O-methyltransferase gene Val/Met functional polymorphism and risk of schizophrenia: a large-scale association study plus meta-analysis. Biol Psychiatry 2005, 57:139-144.
19. Li T, Ball D, Zhao J, Murray RM, Liu X, Sham PC, Collier DA: Family-based linkage disequilibrium mapping using SNP marker haplotypes: application to a potential locus for schizophrenia at chromosome 22q11. Mol Psychiatry 2000, 5:77-84.
20. Handoko HY, Nyholt DR, Hayward NK, Nertney DA, Hannah DE, Windus LC, McCormack CM, Smith HJ, Filippich C, James MR, Mowry BJ: Separate and interacting effects within the catechol-O-methyltransferase (COMT) are associated with schizophrenia. Mol Psychiatry 2005, 10:589-597.
21. Sanders AR, Rusu I, Duan J, Molen JE, Hou C, Schwab SG, Wildenauer DB, Martinez M, Gejman PV: Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia. Mol Psychiatry 2004.
22. Shifman S, Bronstein M, Sternfeld M, Pisante-Shalom A, Lev-Lehman E, Weizman A, Reznik I, Spivak B, Grisaru N, Karp L, Schiffer R, Kotler M, Strous RD, Swartz-Vanetik M, Knobler HY, Shinar E, Beckmann JS, Yakir B, Risch N, Zak NB, Darvasi A: A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet 2002, 71:1296-1302.
23. Palmatier MA, Pakstis AJ, Speed W, Paschou P, Goldman D, Odunsi A, Okonofua F, Kajuna S, Karoma N, Kungulilo S, Grigorenko E, Zhukova OV, Bonne-Tamir B, Lu RB, Parnas J, Kidd JR, DeMille MM, Kidd KK: COMT haplotypes suggest P2 promoter region relevance for schizophrenia. Mol Psychiatry 2004, 9:859-870.
24. Bray NJ, Buckland PR, Williams NM, Williams HJ, Norton N, Owen MJ, O'Donovan MC: A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. Am J Hum Genet 2003, 73:152-161.
25. Zhu G, Lipsky RH, Xu K, Ali S, Hyde T, Kleinman J, Akhtar LA, Mash DC, Goldman D: Differential expression of human COMT alleles in brain and lymphoblasts detected by RT-coupled 5′ nuclease assay. Psychopharmacology (Berl) 2004, 177:178-184.
26. Tunbridge E, Burnet PW, Sodhi MS, Harrison PJ: Catechol-O-methyltransferase (COMT) and proline dehydrogenase (PRODH) mRNAs in the dorsolateral prefrontal cortex in schizophrenia, bipolar disorder, and major depression. Synapse 2004, 51:112-118.
27. Petronis A: The origin of schizophrenia: genetic thesis, epigenetic antithesis, and resolving synthesis. Biol Psychiatry 2004, 55:965-970.
28. Murphy BC, O'Reilly RL, Singh SM: Site-specific cytosine methylation in S-COMT promoter in 31 brain regions with implications for studies involving schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2005, 133:37-42.
29. Torrey EF, Webster M, Knable M, Johnston N, Yolken RH: The stanley foundation brain collection and neuropathology consortium. Schizophr Res 2000, 44: 151-155.
30. Olek A, Oswald J, Walter J: A modified and improved method for bisulphite based cytosine methylation analysis. Nucleic Acids Res 1996, 24:5064-5066.
31. O'Donovan MC, Williams NM, Owen MJ: Recent advances in the genetics of schizophrenia. Hum Mol Genet 2003, 12(Spec 2):R125-R133.
32. Caspi A, Moffitt TE, Cannon M, McClay J, Murray R, Harrington H, Taylor A, Arseneault L, Williams B, Braithwaite A, Poulton R, Craig IW: Moderation of the effect of adolescent-onset cannabis use on adult psychosis by a functional polymorphism in the catechol-O-methyltransferase gene: longitudinal evidence of a gene X environment interaction. Biol Psychiatry 2005, 57:1117-27.
33. Petronis A: Human morbid genetics revisited: relevance of epigenetics. Trends Genet 2001, 17:142-146.
34. Gogos JA, Morgan M, Luine V, Santha M, Ogawa S, Pfaff D, Karayiorgou M: Catechol-O-methyltransferase-deficient mice exhibit sexually dimorphic changes in catecholamine levels and behavior. Proc Natl Acad Sci U S A 1998, 95:9991-9996.
35. Karayiorgou M, Altemus M, Galke BL, Goldman D, Murphy DL, Ott J, Gogos JA: Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Natl Acad Sci U S A 1997, 94:4572-4575.
36. Karayiorgou M, Sobin C, Blundell ML, Galke BL, Malinova L, Goldberg P, Ott J, Gogos JA: Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder. Biol Psychiatry 1999, 45:1178-1189.
37. Creveling CR: The role of catechol-O-methyltransferase in the inactivation of catecholestrogen. Cell Mol Neurobiol 2003, 23:289-291.
38. Matsumoto M, Weickert CS, Beltaifa S, Kolachana B, Chen J, Hyde TM, Herman MM, Weinberger DR, Kleinman JE: Catechol O-Methyltransferase (COMT) MRNA Expression in the Dorsolateral Prefrontal Cortex of Patients With Schizophrenia. Neuropsychopharmacology 2003, 28:1521-30.