Association between COMT (Val158Met) functional polymorphism and early onset in patients with major depressive disorder in a European multicenter genetic association study

Molecular Psychiatry

Volumn 10, Issue 6, 2005, Pages 598-605

  Massat, I ^a   Souery, D ^a   Del Favero, J ^b   Nothen, M ^c   Blackwood, D ^d   Muir, W ^d   Kaneva, R ^e   Serretti, A ^f   Lorenzi, C ^f   Rietschel, M ^g   Milanova, V ^e   Papadimitriou, G N ^h   Dikeos, D ^h   Van Broekhoven, C ^b   Mendlewicz, J ^a  

^a ERASME HOSPITAL   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY HOSPITAL ALEXANDROVSKA   (Bulgaria)

^f VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^g CENTRAL INSTITUTE OF MENTAL HEALTH   (Germany)

^h UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

Author keywords

Age at onset; Association study; Bipolar disorder; Candidate genes; Catecholamine neurotransmission; COMT gene; Major depressive disorder

Indexed keywords

CATECHOL METHYLTRANSFERASE; CATECHOLAMINE; METHIONINE; VALINE;

ADULT; ALLELE; ARTICLE; BIPOLAR DISORDER; CONTROLLED STUDY; EUROPE; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; MALE; MOOD DISORDER; MULTICENTER STUDY; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; SYMPTOMATOLOGY;

AGE FACTORS; AMINO ACID SUBSTITUTION; BIPOLAR DISORDER; CASE-CONTROL STUDIES; CATECHOL O-METHYLTRANSFERASE; DEPRESSIVE DISORDER, MAJOR; EUROPE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; REFERENCE VALUES; RISK FACTORS;

EID: 21244485041     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001615     Document Type: Article

References (52)

1. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
2. Mendlewicz J. Juvenile and late onset forms of depressive disorder: genetic and biological characterization of bipolar and unipolar illness-a review. Maturitas 1979; 1: 229-234.
3. Strober M, Morrell W, Burroughs J, Lampert C, Danforth H, Freeman R. A family study of bipolar I disorder in adolescence: early onset of symptoms linked to increased familial loading and lithium resistance. J Affect Disord 1988; 15: 255-268.
4. Leboyer M, Bellivier F, McKeon P, Albus M, Borrman M, Perez-Diaz F et al. Age at onset and gender resemblance in bipolar siblings. Psychiatry Res 1998; 81: 125-131.
5. Grigoroiu-Serbanescu M, Martinez M, Nöthen MM, Grimberg M, Sima D, Propping P et al. Different familial transmission patterns in bipolar I disorder with onset before and after age 25. Am J Med Genet 2001; 105: 765-773.
6. Grigoroiu-Serbanescu M, Wickramaratne PJ, Hodge SE, Milea S, Mihailescu R. Genetic anticipation and imprinting in bipolar I illness. Br J Psychiatry 1997; 170: 162-166.
7. Lindblad K, Nylander PO, De bruyn A, Sourey D, Zander C, Engstrom C et al. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol Dis 1995; 2: 55-62.
8. Lindblad K, Nylander PO, Zander C, Yuan QP, Stahle L, Engstrom C et al. Two commonly expanded CAG/ CTG repeat loci: involvement in affective disorders? Mol Psychiatry 1998; 3: 405-410.
9. Mendlewicz J, Lindbald K, Souery D, Mahieu B, Nylander PO, De Bruyn A et al. Expanded trinucleotide CAG repeats in families with bipolar affective disorder. Biol Psychiatry 1997; 42: 1115-1122.
10. Pericak-Vance MA, Bebout JL, Gaskell Jr PC, Yamaoka LH, Hung WY, Alberts MJ et al. Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 1991; 48: 1034-1050.
11. Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R et al. Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 1996; 153: 1541-1547.
12. Lotta T, Vidgren J, Tilgmann C, Ulmanen I, Melen K, Julkunen I et al. 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.
13. Bertocci B, Miggiano V, Da Prada M, Dembic Z, Lahm HW, Malherbe P. Human catechol-O-methyltransferase, cloning and expression of the membrane-associated form. Proc Natl Acad Sci USA 1991; 88: 1416-1420.
14. Lundstrom K, Salminen M, Jalanko A, Savolainen R, Ulmanen I. Cloning and characterization of human placental catechol-O-methyltransferase cDNA. DNA Cell Biol 1991; 10: 181-189.
15. Tenhunen J, Salminen M, Lundstrom K, Kiviluoto T, Savolainen R, Ulmanen I. Genomic organization of the human catechol-O-methyltransferase gene and its expression from two distinct promoters. Eur J Biochem 1994; 223: 1049-1059.
16. 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 neuropsychiatri disorders. Pharmacogenetics 1996; 6: 243-250.
17. Aksoy S, Klener J, Weinshilboum RM. Catechol O-methyltransferase pharmacogenetics: photoaffinity labelling and western blot analysis of human liver samples. Pharmacogenetics 1993; 3: 116-122.
18. Fahndrich E, Coper H, Christ W, Helmchen H, Muller-Oerlinghausen B, Pietzcker A. Erythrocyte COMT-activity in patients with affective disorders. Acta Psychiatr Scand 1980; 61: 427-437.
19. Guldberg HC, Marsden CA. Catechol-O-methyl transferase: pharmacological aspects and physiological role. Pharmacol Rev 1975; 27: 135-206.
20. Papolos DF, Veit S, Faedda GL, Saito T, Lachman HM. Ultra-ultra rapid cycling bipolar disorder is associated with the low activity catecholamine-O-methytransferase allele. Mol Psychiatry 1998; 3: 346-349.
21. Ohara K, Nagai M, Suzuki Y, Ohara K. Low activity allele of catechol-o-methyltransferase gene and Japanese unipolar depression. Neuroreport 1998; 9: 1305-1308.
22. Li T, Vallada H, Curtis D, Arranz M, Xu K, Gai G et al. Catechol-O-methyltransferase Val158Met polymorphism; frequency analysis in Han Chinese subjects and allelic association of the low activity allele with bipolar affective disorder. Pharmacogenetics 1997; 7: 349-353.
23. Mynett-Johnson LA, Murphy VE, Claffey E, Shields DC, McKeon P. Preliminary evidence of an association between bipolar disorder in females and the catechol-O-methyltransferase gene. Psychiatr Genet 1998; 8: 221-225.
24. Rotondo A, Mazzanti C, Dell'Osso L, Rucci P, Sullivan P, Bouanani S et al. Catechol o-methyltransferase, serotonin transporter, and tryptophan hydroxylase gene polymorphisms in bipolar disorder patients with and without comorbid panic disorder. Am J Psychiatry 2002; 159: 23-29.
25. Kirov G, Murphy KC, Arranz MJ, Jones I, McCandles F, Kunugi H et al. Low activity allele of catechol-O-methyltransferase gene associated with rapid cycling bipolar disorder. Mol Psychiatry 1998; 3: 342-345.
26. Schizophrenia Collaborative Linkage Group for Chromosome 22. A transmission disequilibrium and linkage analysis of D22S278 marker alleles in 574 families: further support for a susceptibility locus for schizophrenia at 22q12. Schizophr Res 1998; 32: 115-121.
27. Lachman HM, Kelsoe JR, Remick RA, Sadovnick AD, Rapaport MH, Lin M et al. Linkage studies suggest a possible locus for bipolar disorder near the velo-cardio-facial syndrome region on chromosome 22. Am J Med Genet 1997; 74: 121-128.
28. Kelsoe JR, Spence MA, Loetscher E, Foguet M, Sadovnick AD, Remick RA et al. A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc Natl Acad Sci USA 2001; 98: 585-590.
29. Souery D, Lipp O, Serretti A, Mahieu B, Rivelli SK, Cavallini C et al. European Collaborative Project on Affective Disorders, interactions between genetic and psychosocial vulnerability factors. Psychiatr Genet 1998; 8: 197-205.
30. Endicott J, Spitzer RL. A diagnostic interview: the schedule for affective disorders and schizophrenia. Arch Gen Psychiatry 1978; 35: 837-862.
31. Wing JK, Babor T, Brugha T, Burke J, Cooper JE, Giel R et al. SCAN: schedules for clinical assessment in neuropsychiatry. Arch Gen Psychiatry 1990; 47: 589-593.
32. Farmer A, Cosyns P, Leboyer M, Maier W, Mors O, Sargeant M et al. A SCAN-SADS comparison study of psychotic subjects and their first degree relatives. Eur Arch Psychiatry Clin Neurosci 1993; 242: 352-357.
33. Bellivier F, Golmard JL, Rietschel M, Schulze TG, Malafosse A, Preisig M et al. Age at onset in bipolar I affective disorder: further evidence for three subgroups. Am J Psychiatry 2003; 160: 999-1001.
34. Andreasen NC, Endicott J, Spitzer RL, Winokur G. The family history method using diagnostic criteria. Arch Gen Psychiatry 1977; 34: 1229-1235.
35. Lahiri DK, Nurnberger JI. A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 1991; 19: 5444.
36. Raymond M, Rousset F. Genepop (ver1.2), a population genetic software for exact test and ecuniscism. J Hered 1995; 95: 248-249.
37. Mantel N, Haenszel W. Statistical aspects of the analysis if data from retrospective studies of disease. J Natl Cancer Inst 1959; 22: 719-748.
38. Breslow NE, Day NE. Statistical Methods in Cancer Research. Volume 1 - The analysis of case-control studies. IARC Scientific Publication No. 32: Lyon, 1980.
39. Bellivier F, Laplanche JL, Schurhoff F, Feingold J, Feline A, Jouvent R et al. Apolipoprotein E gene polymorphism in early and late onset bipolar patients. Neurosci Lett 1997; 233: 45-48.
40. Egan MF, Goldberg TE, Kolachana BS, Callicott JH, Mazzanti CM, Straub RE et al. Effect of COMT Val108/158 Met genotype on frontal lobe function and risk for schizophrenia. Proc Natl Acad Sci USA 2001; 98: 6917-6922.
41. Badner JA, Gershon ES. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 2002; 7: 405-411.
42. Eley TC, Tahir E, Angleitner A, Harriss K, McClay J, Plomin R et al. Association analysis of MAOA and COMT with neuroticism assessed by peers. Am J Med Genet 2003; 120: 90-96.
43. 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.
44. Rujescu D, Giegling I, Gietl A, Hartmann AM, Moller HJ. A functional single nucleotide polymorphism (V158M) in the COMT gene is associated with aggressive personality traits. Biol Psychiatry 2003; 54: 34-39.
45. Kunugi H, Vallada HP, Hoda F, Kirov G, Gill M, Aitchison KJ et al. No evidence for an association of affective disorders with high- or low-activity allele of catechol-o-methyltransferase gene. Biol Psychiatry 1997; 42: 282-285.
46. Frisch A, Postilnick D, Rockah R, Michaelovsky E, Postilnick S, Birman E et al. Association of unipolar major depressive disorder with genes of the serotonergic and dopaminergic pathways. Mol Psychiatry 1999; 4: 389-392.
47. Russ MJ, Lachman HM, Kashdan T, Saito T, Bajmakovic-Kacila S. Analysis of catechol-O-methyltransferase and 5-hydroxytryptamine transporter polymorphisms in patients at risk for suicide. Psychiatry Res 2000; 93: 73-78.
48. Cusin C, Serretti A, Lattuada E, Lilli R, Lorenzi C, Smeraldi E. Association study of MAO-A, COMT, 5-HT2A, DRD2, and DRD4 polymorphisms with illness time course in mood disorders. Am J Med Genet 2002; 114: 380-390.
49. Gutierrez B, Bertranpetit J, Guillamat R, Valles V, Arranz MJ, Kerwin R et al. Association analysis of the catechol-O-methyltransferase gene and bipolar affective disorder. Am J Psychiatry 1997; 154: 113-115.
50. Lachman HM, Kelsoe J, Moreno L, Katz S, Papolos DF. Lack of association of catechol-O-methyltransferase (COMT) functional polymorphism in bipolar affective disorder. Psychiatr Genet 1997; 7: 13-17.
51. Biomed European Bipolar Collaborative Group. No association between bipolar disorder and alleles at a functional polymorphism in the COMT gene. Br J Psychiatry 1997; 170: 526-528.
52. Geller B, Cook Jr EH. Ultradian rapid cycling in prepubertal and early adolescent bipolarity is not in transmission disequilibrium with val/met COMT alleles. Biol Psychiatry 2000; 47: 605-609.