The genetics of bipolar disorder

Neuroscience

Volumn 164, Issue 1, 2009, Pages 331-343

  Barnett, J H ^a,b   Smoller, J W ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Association; Bipolar disorder; Candidate gene; Genetic; Genetic epidemiology; GWAS

Indexed keywords

ANIMAL; BIPOLAR DISORDER; GENETIC PREDISPOSITION; GENETICS; HUMAN; REVIEW;

ANIMALS; BIPOLAR DISORDER; GENETIC PREDISPOSITION TO DISEASE; HUMANS;

EID: 73749084665     PISSN: 03064522     EISSN: 18737544     Source Type: Journal    
DOI: 10.1016/j.neuroscience.2009.03.080     Document Type: Review

References (141)

1. Abou Jamra R., Fuerst R., Kaneva R., Orozco Diaz G., Rivas F., Mayoral F., Gay E., Sans S., Gonzalez M.J., Gil S., Cabaleiro F., Del Rio F., Perez F., Haro J., Auburger G., Milanova V., Kostov C., Chorbov V., Stoyanova V., Nikolova-Hill A., Onchev G., Kremensky I., Jablensky A., Schulze T.G., Propping P., Rietschel M., Nothen M.M., Cichon S., Wienker T.F., Schumacher J. The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effects between loci on chromosomes 2q and 6q. Am J Hum Genet 2007, 81:974-986.
2. Andreasen N.C., Rice J., Endicott J., Coryell W., Grove W.M., Reich T. Familial rates of affective disorder. Arch Gen Psychiatry 1987, 44:461-469. A report from the National Institute of Mental Health Collaborative Study.
3. Arseneault L., Cannon M., Witton J., Murray R.M. Causal association between cannabis and psychosis: examination of the evidence. Br J Psychiatry 2004, 184:110-117.
4. Arts B., Jabben N., Krabbendam L., van Os J. Meta-analyses of cognitive functioning in euthymic bipolar patients and their first-degree relatives. Psychol Med 2008, 38:771-785.
5. Badner J.A., Gershon E.S. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 2002, 7:405-411.
6. Barnett J.H., Werners U., Secher S.M., Hill K.E., Brazil R., Masson K., Pernet D.E., Kirkbride J.B., Murray G.K., Bullmore E.T., Jones P.B. Substance use in a population-based clinic sample of people with first-episode psychosis. Br J Psychiatry 2007, 190:515-520.
7. Baum A.E., Akula N., Cabanero M., Cardona I., Corona W., Klemens B., Schulze T.G., Cichon S., Rietschel M., Nothen M.M., Georgi A., Schumacher J., Schwarz M., Abou Jamra R., Hofels S., Propping P., Satagopan J., Detera-Wadleigh S.D., Hardy J., McMahon F.J. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry 2008, 13:197-207.
8. Baum A.E., Hamshere M., Green E., Cichon S., Rietschel M., Noethen M.M., Craddock N., McMahon F.J. Meta-analysis of two genome-wide association studies of bipolar disorder reveals important points of agreement. Mol Psychiatry 2008, 13:466-467.
9. Benedetti F., Serretti A., Colombo C., Barbini B., Lorenzi C., Campori E., Smeraldi E. Influence of CLOCK gene polymorphism on circadian mood fluctuation and illness recurrence in bipolar depression. Am J Med Genet B Neuropsychiatr Genet 2003, 123B:23-26.
10. Benes F.M., Lim B., Matzilevich D., Walsh J.P., Subburaju S., Minns M. Regulation of the GABA cell phenotype in hippocampus of schizophrenics and bipolars. Proc Natl Acad Sci U S A 2007, 104:10164-10169.
11. Berrettini W.H. Are schizophrenic and bipolar disorders related?. A review of family and molecular studies. Biol Psychiatry 2000, 48:531-538.
12. Bramon E., Sham P.C. The common genetic liability between schizophrenia and bipolar disorder: a review. Curr Psychiatry Rep 2001, 3:332-337.
13. Burmeister M., McInnis M.G., Zollner S. Psychiatric genetics: progress amid controversy. Nat Rev Genet 2008, 9:527-540.
14. Cardno A.G., Rijsdijk F.V., Sham P.C., Murray R.M., McGuffin P. A twin study of genetic relationships between psychotic symptoms. Am J Psychiatry 2002, 159:539-545.
15. Caspi A., McClay J., Moffitt T.E., Mill J., Martin J., Craig I.W., Taylor A., Poulton R. Role of genotype in the cycle of violence in maltreated children. Science 2002, 297:851-854.
16. Caspi A., Sugden K., Moffitt T.E., Taylor A., Craig I.W., Harrington H., McClay J., Mill J., Martin J., Braithwaite A., Poulton R. Influence of life stress on depression: moderation by a polymorphism in the 5-HTT gene. Science 2003, 301:386-389.
17. Chen C., Glatt S.J., Tsuang M.T. The tryptophan hydroxylase gene influences risk for bipolar disorder but not major depressive disorder: results of meta-analyses. Bipolar Disord 2008, 10:816-821.
18. Chiaroni P., Hantouche E.G., Gouvernet J., Azorin J.M., Akiskal H.S. The cyclothymic temperament in healthy controls and familially at risk individuals for mood disorder: endophenotype for genetic studies?. J Affect Disord 2005, 85:135-145.
19. Craddock N., Forty L. Genetics of affective (mood) disorders. Eur J Hum Genet 2006, 14:660-668.
20. Craddock N., O'Donovan M.C., Owen M.J. The genetics of schizophrenia and bipolar disorder: dissecting psychosis. J Med Genet 2005, 42:193-204.
21. Craddock N., Owen M.J. The beginning of the end for the Kraepelinian dichotomy. Br J Psychiatry 2005, 186:364-366.
22. De Luca V., Likhodi O., Van Tol H.H., Kennedy J.L., Wong A.H. Tryptophan hydroxylase 2 gene expression and promoter polymorphisms in bipolar disorder and schizophrenia. Psychopharmacology (Berl) 2005, 183:378-382.
23. Dokucu M.E., Yu L., Taghert P.H. Lithium- and valproate-induced alterations in circadian locomotor behavior in Drosophila. Neuropsychopharmacology 2005, 30:2216-2224.
24. Dunner D.L., Fleiss J.L., Fieve R.R. The course of development of mania in patients with recurrent depression. Am J Psychiatry 1976, 133:905-908.
25. Fahndrich E. Effects of sleep deprivation on depressed patients of different nosological groups. Psychiatry Res 1981, 5:277-285.
26. Fallin M.D., Lasseter V.K., Avramopoulos D., Nicodemus K.K., Wolyniec P.S., McGrath J.A., Steel G., Nestadt G., Liang K.Y., Huganir R.L., Valle D., Pulver A.E. Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet 2005, 77:918-936.
27. Fan J., Sklar P. Genetics of bipolar disorder: focus on BDNF val66met polymorphism. Novartis Found Symp 2008, 289:60-72. discussion: 72-63, 87-93.
28. Faraone S.V., Glatt S.J., Tsuang M.T. The genetics of pediatric-onset bipolar disorder. Biol Psychiatry 2003, 53:970-977.
29. Ferreira M.A., O'Donovan M.C., Meng Y.A., Jones I.R., Ruderfer D.M., Jones L., Fan J., Kirov G., Perlis R.H., Green E.K., Smoller J.W., Grozeva D., Stone J., Nikolov I., Chambert K., Hamshere M.L., Nimgaonkar V.L., Moskvina V., Thase M.E., Caesar S., Sachs G.S., Franklin J., Gordon-Smith K., Ardlie K.G., Gabriel S.B., Fraser C., Blumenstiel B., Defelice M., Breen G., Gill M., Morris D.W., Elkin A., Muir W.J., McGhee K.A., Williamson R., Macintyre D.J., Maclean A.W., St Clair D., Robinson M., Van Beck M., Pereira A.C., Kandaswamy R., McQuillin A., Collier D.A., Bass N.J., Young A.H., Lawrence J., Nicol Ferrier I., Anjorin A., Farmer A., Curtis D., Scolnick E.M., McGuffin P., Daly M.J., Corvin A.P., Holmans P.A., Blackwood D.H., Gurling H.M., Owen M.J., Purcell S.M., Sklar P., Craddock N. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 2008, 40(9):1056-1058.
30. Fisfalen M.E., Schulze T.G., DePaulo J.R., DeGroot L.J., Badner J.A., McMahon F.J. Familial variation in episode frequency in bipolar affective disorder. Am J Psychiatry 2005, 162:1266-1272.
31. Frankel W.N., Schork N.J. Who's afraid of epistasis?. Nat Genet 1996, 14(4):371-373.
32. Frans E.M., Sandin S., Reichenberg A., Lichtenstein P., Langstrom N., Hultman C.M. Advancing paternal age and bipolar disorder. Arch Gen Psychiatry 2008, 65:1034-1040.
33. Funke B., Malhotra A.K., Finn C.T., Plocik A.M., Lake S.L., Lencz T., DeRosse P., Kane J.M., Kucherlapati R. COMT genetic variation confers risk for psychotic and affective disorders: a case control study. Behav Brain Funct 2005, 1:19.
34. Geller B., Tillman R., Bolhofner K., Zimerman B., Strauss N.A., Kaufmann P. Controlled, blindly rated, direct-interview family study of a prepubertal and early-adolescent bipolar I disorder phenotype: morbid risk, age at onset, and comorbidity. Arch Gen Psychiatry 2006, 63:1130-1138.
35. Georgieva L., Dimitrova A., Ivanov D., Nikolov I., Williams N.M., Grozeva D., Zaharieva I., Toncheva D., Owen M.J., Kirov G., O'Donovan M.C. Support for neuregulin 1 as a susceptibility gene for bipolar disorder and schizophrenia. Biol Psychiatry 2008, 64:419-427.
36. Gershon E.S., Hamovit J., Guroff J.J., Dibble E., Leckman J.F., Sceery W., Targum S.D., Nurnberger J.I., Goldin L.R., Bunney W.E. A family study of schizoaffective, bipolar I, bipolar II, unipolar, and normal control probands. Arch Gen Psychiatry 1982, 39:1157-1167.
37. Gershon E.S., Mark A., Cohen N., Belizon N., Baron M., Knobe K. Transmitted factors in the morbid risk of affective disorders: a controlled study. J Psychiatr Res 1975, 12:283-299.
38. Goldberg J.F., Harrow M. Consistency of remission and outcome in bipolar and unipolar mood disorders: a 10-year prospective follow-up. J Affect Disord 2004, 81:123-131.
39. Gottesman B.A., Bertelsen A. Confirming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal discordant twins. Arch Gen Psychiatry 1989, 46:867-872.
40. Gottesman G.T.D., Gould T.D. The endophenotype concept in psychiatry: etymology and strategic intentions. Am J Psychiatry 2003, 160:636-645.
41. Green E.K., Raybould R., Macgregor S., Gordon-Smith K., Heron J., Hyde S., Grozeva D., Hamshere M., Williams N., Owen M.J., O'Donovan M.C., Jones L., Jones I., Kirov G., Craddock N. Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder. Arch Gen Psychiatry 2005, 62:642-648.
42. Grigoroiu-Serbanescu M., Martinez M., Nothen M.M., Grinberg M., Sima D., Propping P., Marinescu E., Hrestic M. Different familial transmission patterns in bipolar I disorder with onset before and after age 25. Am J Med Genet 2001, 105:765-773.
43. Grof P., Duffy A., Cavazzoni P., Grof E., Garnham J., MacDougall M., O'Donovan C., Alda M. Is response to prophylactic lithium a familial trait?. J Clin Psychiatry 2002, 63:942-947.
44. Hafen T., Wollnik F. Effect of lithium carbonate on activity level and circadian period in different strains of rats. Pharmacol Biochem Behav 1994, 49:975-983.
45. Hall M.H., Schulze K., Rijsdijk F., Kalidindi S., McDonald C., Bramon E., Murray R.M., Sham P. Are auditory P300 and duration MMN heritable and putative endophenotypes of psychotic bipolar disorder?. A Maudsley bipolar twin and family study. Psychol Med Mar 2009, 2:1-11. [Epub ahead of print].
46. Harvey A.G. Sleep and circadian rhythms in bipolar disorder: seeking synchrony, harmony, and regulation. Am J Psychiatry 2008, 165:820-829.
47. Hasler G., Drevets W.C., Gould T.D., Gottesman M.H.K., Manji H.K. Toward constructing an endophenotype strategy for bipolar disorders. Biol Psychiatry 2006, 60:93-105.
48. Hennah W., Thomson P., McQuillin A., Bass N., Loukola A., Anjorin A., Blackwood D., Curtis D., Deary I.J., Harris S.E., Isometsa E.T., Lawrence J., Lonnqvist J., Muir W., Palotie A., Partonen T., Paunio T., Pylkko E., Robinson M., Soronen P., Suominen K., Suvisaari J., Thirumalai S., Clair D.S., Gurling H., Peltonen L., Porteous D. DISC1 association, heterogeneity and interplay in schizophrenia and bipolar disorder. Mol Psychiatry 2008, in press.
49. Henquet C., Krabbendam L., de Graaf R., ten Have M., van Os J. Cannabis use and expression of mania in the general population. J Affect Disord 2006, 95:103-110.
50. Heun R., Maier W. The distinction of bipolar II disorder from bipolar I and recurrent unipolar depression: results of a controlled family study. Acta Psychiatr Scand 1993, 87:279-284.
51. Hodgkinson C.A., Goldman D., Jaeger J., Persaud S., Kane J.M., Lipsky R.H., Malhotra A.K. Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder. Am J Hum Genet 2004, 75:862-872.
52. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008, 455(7210):237-241. International Schizophrenia Consortium.
53. Ioannidis J.P. Why most published research findings are false. PLoS Med 2005, 2:e124.
54. James N.M. Early- and late-onset bipolar affective disorder. Arch Gen Psychiatry 1977, 34:715-717. A genetic study.
55. Johnsson A., Engelmann W., Pflug B., Klemke W. Period lengthening of human circadian rhythms by lithium carbonate, a prophylactic for depressive disorders. Int J Chronobiol 1983, 8:129-147.
56. Kassem L., Lopez V., Hedeker D., Steele J., Zandi P., McMahon F.J. Familiality of polarity at illness onset in bipolar affective disorder. Am J Psychiatry 2006, 163:1754-1759.
57. Kendler K.S. Reflections on the relationship between psychiatric genetics and psychiatric nosology. Am J Psychiatry 2006, 163:1138-1146.
58. Kendler K.S., Gardner C.O. The risk for psychiatric disorders in relatives of schizophrenic and control probands: a comparison of three independent studies. Psychol Med 1997, 27:411-419.
59. Kendler K.S., Pedersen N.L., Neale M.C., Mathé A. A pilot Swedish twin study of affective illness including hospital- and population-ascertained subsamples: results of model fitting. Behav Genet 1995, 25:217-232.
60. Kendler K.S., Prescott C.A. Cannabis use, abuse, and dependence in a population-based sample of female twins. Am J Psychiatry 1998, 155:1016-1022.
61. Kessler R.C., Akiskal H.S., Ames M., Birnbaum H., Greenberg P., Hirschfeld R.M., Jin R., Merikangas K.R., Simon G.E., Wang P.S. Prevalence and effects of mood disorders on work performance in a nationally representative sample of US workers. Am J Psychiatry 2006, 163:1561-1568.
62. Kessler R.C., Berglund P., Demler O., Jin R., Merikangas K.R., Walters E.E. Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Arch Gen Psychiatry 2005, 62:593-602.
63. Kessler R.C., Rubinow D.R., Holmes C., Abelson J.M., Zhao S. The epidemiology of DSM-III-R bipolar I disorder in a general population survey. Psychol Med 1997, 27:1079-1089.
64. Keverne E.B., Fundele R., Narasimha M., Barton S.C., Surani M.A. Genomic imprinting and the differential roles of parental genomes in brain development. Brain Res Dev Brain Res 1996, 92:91-100.
65. Kieseppa T., Partonen T., Haukka J., Kaprio J., Lonnqvist J. High concordance of bipolar I disorder in a nationwide sample of twins. Am J Psychiatry 2004, 161:1814-1821.
66. Kim-Cohen J., Caspi A., Taylor A., Williams B., Newcombe R., Craig I.W., Moffitt T.E. MAOA, maltreatment, and gene-environment interaction predicting children's mental health: new evidence and a meta-analysis. Mol Psychiatry 2006, 11:903-913.
67. Ko C.H., Takahashi J.S. Molecular components of the mammalian circadian clock. Hum Mol Genet 2006, 15(Spec. No 2):R271-R277.
68. Kraepelin E. Clinical psychiatry 1907, Macmillan and Company, Ltd, London.
69. Lachman H.M., Pedrosa E., Petruolo O.A., Cockerham M., Papolos A., Novak T., Papolos D.F., Stopkova P. Increase in GSK3beta gene copy number variation in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2007, 144B:259-265.
70. Lachman H.M., Petruolo O.A., Pedrosa E., Novak T., Nolan K., Stopkova P. Analysis of protocadherin alpha gene deletion variant in bipolar disorder and schizophrenia. Psychiatr Genet 2008, 18:110-115.
71. Larsen J.K., Lindberg M.L., Skovgaard B. Sleep deprivation as treatment for endogenous depression. Acta Psychiatr Scand 1976, 54:167-173.
72. Lasky-Su J.A., Faraone S.V., Glatt S.J., Tsuang M.T. Meta-analysis of the association between two polymorphisms in the serotonin transporter gene and affective disorders. Am J Med Genet B Neuropsychiatr Genet 2005, 133:110-115.
73. Le-Niculescu H., Patel S.D., Bhat M., Kuczenski R., Faraone S.V., Tsuang M.T., McMahon F.J., Schork N.J., Nurnberger J.I., Niculescu A.B. Convergent functional genomics of genome-wide association data for bipolar disorder: comprehensive identification of candidate genes, pathways and mechanisms. Am J Med Genet B Neuropsychiatr Genet 2009, 150B:155-181.
74. Leonard S., Gault J., Moore T., Hopkins J., Robinson M., Olincy A., Adler L.E., Cloninger C.R., Kaufmann C.A., Tsuang M.T., Faraone S.V., Malaspina D., Svrakic D.M., Freedman R. Further investigation of a chromosome 15 locus in schizophrenia: analysis of affected sibpairs from the NIMH Genetics Initiative. Am J Med Genet 1998, 81:308-312.
75. Leonhard K. Aufteilung der endogenen Psychosen 1959, Akademie Verlag, Berlin.
76. Lin P.I., Mitchell B.D. Approaches for unraveling the joint genetic determinants of schizophrenia and bipolar disorder. Schizophr Bull 2008, in press.
77. Maier W., Lichtermann D., Minges J., Hallmayer J., Heun R., Benkert O., Levinson D.F. Continuity and discontinuity of affective disorders and schizophrenia. Arch Gen Psychiatry 1993, 50:871-883. Results of a controlled family study.
78. Mansour H.A., Wood J., Logue T., Chowdari K.V., Dayal M., Kupfer D.J., Monk T.H., Devlin B., Nimgaonkar V.L. Association study of eight circadian genes with bipolar I disorder, schizoaffective disorder and schizophrenia. Genes Brain Behav 2006, 5:150-157.
79. Martucci L., Wong A.H., De Luca V., Likhodi O., Wong G.W., King N., Kennedy J.L. N-methyl-d-aspartate receptor NR2B subunit gene GRIN2B in schizophrenia and bipolar disorder: polymorphisms and mRNA levels. Schizophr Res 2006, in press.
80. McClung C.A. Circadian genes, rhythms and the biology of mood disorders. Pharmacol Ther 2007, 114:222-232.
81. McGuffin P., Rijsdijk F., Andrew M., Sham P., Katz R., Cardno A. The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch Gen Psychiatry 2003, 60:497-502.
82. McQueen M.B., Devlin B., Faraone S.V., Nimgaonkar V.L., Sklar P., Smoller J.W., Abou Jamra R., Albus M., Bacanu S.A., Baron M., Barrett T.B., Berrettini W., Blacker D., Byerley W., Cichon S., Coryell W., Craddock N., Daly M.J., Depaulo J.R., Edenberg H.J., Foroud T., Gill M., Gilliam T.C., Hamshere M., Jones I., Jones L., Juo S.H., Kelsoe J.R., Lambert D., Lange C., Lerer B., Liu J., Maier W., Mackinnon J.D., McInnis M.G., McMahon F.J., Murphy D.L., Nothen M.M., Nurnberger J.I., Pato C.N., Pato M.T., Potash J.B., Propping P., Pulver A.E., Rice J.P., Rietschel M., Scheftner W., Schumacher J., Segurado R., Van Steen K., Xie W., Zandi P.P., Laird N.M. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet 2005, 77:582-595.
83. McQueen M.B., Devlin B., Faraone S.V., Nimgaonkar V.L., Sklar P., Smoller J.W., Abou Jamra R., Albus M., Bacanu S.A., Baron M., Barrett T.B., Berrettini W., Blacker D., Byerley W., Cichon S., Coryell W., Craddock N., Daly M.J., Depaulo J.R., Edenberg H.J., Foroud T., Gill M., Gilliam T.C., Hamshere M., Jones I., Jones L., Juo S.H., Kelsoe J.R., Lambert D., Lange C., Lerer B., Liu J., Maier W., Mackinnon J.D., McInnis M.G., McMahon F.J., Murphy D.L., Nothen M.M., Nurnberger J.I., Pato C.N., Pato M.T., Potash J.B., Propping P., Pulver A.E., Rice J.P., Rietschel M., Scheftner W., Schumacher J., Segurado R., Van Steen K., Xie W., Zandi P.P., Laird N.M. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet 2005, 77.
84. McQuillin A., Rizig M., Gurling H.M. A microarray gene expression study of the molecular pharmacology of lithium carbonate on mouse brain mRNA to understand the neurobiology of mood stabilization and treatment of bipolar affective disorder. Pharmacogenet Genomics 2007, 17:605-617.
85. Merikangas K.R., Akiskal H.S., Angst J., Greenberg P.E., Hirschfeld R.M., Petukhova M., Kessler R.C. Lifetime and 12-month prevalence of bipolar spectrum disorder in the national comorbidity survey replication. Arch Gen Psychiatry 2007, 64:543-552.
86. Mill J., Tang T., Kaminsky Z., Khare T., Yazdanpanah S., Bouchard L., Jia P., Assadzadeh A., Flanagan J., Schumacher A., Wang S.C., Petronis A. Epigenomic profiling reveals DNA-methylation changes associated with major psychosis. Am J Hum Genet 2008, 82:696-711.
87. Millar J.K., Wilson-Annan J.C., Anderson S., Christie S., Taylor M.S., Semple C.A., Devon R.S., Clair D.M., Muir W.J., Blackwood D.H., Porteous D.J. Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum Mol Genet 2000, 9:1415-1423.
88. Mortensen P.B., Pedersen C.B., Melbye M., Mors O., Ewald H. Individual and familial risk factors for bipolar affective disorders in Denmark. Arch Gen Psychiatry 2003, 60:1209-1215.
89. Munafo M.R., Flint J. Meta-analysis of genetic association studies. Trends Genet 2004, 20:439-444.
90. Murphy K.C. Schizophrenia and velo-cardio-facial syndrome. Lancet 2002, 359:426-430.
91. Newton-Cheh C., Hirschhorn J.N. Genetic association studies of complex traits: design and analysis issues. Mutat Res 2005, 573:54-69.
92. O'Donovan M.C., Craddock N., Norton N., Williams H., Peirce T., Moskvina V., Nikolov I., Hamshere M., Carroll L., Georgieva L., Dwyer S., Holmans P., Marchini J.L., Spencer C.C., Howie B., Leung H.T., Hartmann A.M., Moller H.J., Morris D.W., Shi Y., Feng G., Hoffmann P., Propping P., Vasilescu C., Maier W., Rietschel M., Zammit S., Schumacher J., Quinn E.M., Schulze T.G., Williams N.M., Giegling I., Iwata N., Ikeda M., Darvasi A., Shifman S., He L., Duan J., Sanders A.R., Levinson D.F., Gejman P.V., Gejman P.V., Sanders A.R., Duan J., Levinson D.F., Buccola N.G., Mowry B.J., Freedman R., Amin F., Black D.W., Silverman J.M., Byerley W.F., Cloninger C.R., Cichon S., Nothen M.M., Gill M., Corvin A., Rujescu D., Kirov G., Owen M.J. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 2008, in press.
93. Owen M.J., Craddock N., Jablensky A. The genetic deconstruction of psychosis. Schizophr Bull 2007, 33:905-911.
94. Palo O.M., Antila M., Silander K., Hennah W., Kilpinen H., Soronen P., Tuulio-Henriksson A., Kieseppa T., Partonen T., Lonnqvist J., Peltonen L., Paunio T. Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments. Hum Mol Genet 2007, 16:2517-2528.
95. Pauls D.L., Morton L.A., Egeland J.A. Risks of affective illness among first-degree relatives of bipolar I old-order Amish probands. Arch Gen Psychiatry 1992, 49:703-708.
96. Pickard B.S., Christoforou A., Thomson P.A., Fawkes A., Evans K.L., Morris S.W., Porteous D.J., Blackwood D.H., Muir W.J. Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder. Mol Psychiatry 2008, in press.
97. Pickard B.S., Knight H.M., Hamilton R.S., Soares D.C., Walker R., Boyd J.K., Machell J., Maclean A., McGhee K.A., Condie A., Porteous D.J., St.Clair D., Davis I., Blackwood D.H., Muir W.J. A common variant in the 3'UTR of the GRIK4 glutamate receptor gene affects transcript abundance and protects against bipolar disorder. Proc Natl Acad Sci U S A 2008, 105:14940-14945.
98. Pickard B.S., Malloy M.P., Christoforou A., Thomson P.A., Evans K.L., Morris S.W., Hampson M., Porteous D.J., Blackwood D.H., Muir W.J. Cytogenetic and genetic evidence supports a role for the kainate-type glutamate receptor gene, GRIK4, in schizophrenia and bipolar disorder. Mol Psychiatry 2006, 11:847-857.
99. Potash J.B., Chiu Y.F., MacKinnon D.F., Miller E.B., Simpson S.G., McMahon F.J., McInnis M.G., DePaulo J.R. Familial aggregation of psychotic symptoms in a replication set of 69 bipolar disorder pedigrees. Am J Med Genet 2003, 116B:90-97.
100. Regier D.A., Farmer M.E., Rae D.S., Locke B.Z., Keith S.J., Judd L.L., Goodwin F.K. Comorbidity of mental disorders with alcohol and other drug abuse. JAMA 1990, 264:2511-2518. Results from the Epidemiologic Catchment Area (ECA) Study.
101. Risch N., Merikangas K. The future of genetic studies of complex human diseases. Science 1996, 273:1516-1517.
102. Roiser J.P., Cook L.J., Cooper J.D., Rubinsztein D.C., Sahakian B.J. Association of a functional polymorphism in the serotonin transporter gene with abnormal emotional processing in ecstasy users. Am J Psychiatry 2005, 162:609-612.
103. Roybal K., Theobold D., Graham A., DiNieri J.A., Russo S.J., Krishnan V., Chakravarty S., Peevey J., Oehrlein N., Birnbaum S., Vitaterna M.H., Orsulak P., Takahashi J.S., Nestler E.J., Carlezon W.A., McClung C.A. Mania-like behavior induced by disruption of CLOCK. Proc Natl Acad Sci U S A 2007, 104:6406-6411.
104. Saunders E.H., Scott L.J., McInnis M.G., Burmeister M. Familiality and diagnostic patterns of subphenotypes in the National Institutes of Mental Health bipolar sample. Am J Med Genet B Neuropsychiatr Genet 2007, in press.
105. Savitz J.B., Ramesar R.S. Personality: is it a viable endophenotype for genetic studies of bipolar affective disorder?. Bipolar Disord 2006, 8:322-337.
106. Sebat J., Lakshmi B., Malhotra D., Troge J., Lese-Martin C., Walsh T., Yamrom B., Yoon S., Krasnitz A., Kendall J., Leotta A., Pai D., Zhang R., Lee Y.H., Hicks J., Spence S.J., Lee A.T., Puura K., Lehtimaki T., Ledbetter D., Gregersen P.K., Bregman J., Sutcliffe J.S., Jobanputra V., Chung W., Warburton D., King M.C., Skuse D., Geschwind D.H., Gilliam T.C., Ye K., Wigler M. Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449.
107. Segurado R., Detera-Wadleigh S.D., Levinson D.F., Lewis C.M., Gill M., Nurnberger J.I., Craddock N., DePaulo J.R., Baron M., Gershon E.S., Ekholm J., Cichon S., Turecki G., Claes S., Kelsoe J.R., Schofield P.R., Badenhop R.F., Morissette J., Coon H., Blackwood D., McInnes L.A., Foroud T., Edenberg H.J., Reich T., Rice J.P., Goate A., McInnis M.G., McMahon F.J., Badner J.A., Goldin L.R., Bennett P., Willour V.L., Zandi P.P., Liu J., Gilliam C., Juo S.H., Berrettini W.H., Yoshikawa T., Peltonen L., Lonnqvist J., Nothen M.M., Schumacher J., Windemuth C., Rietschel M., Propping P., Maier W., Alda M., Grof P., Rouleau G.A., Del-Favero J., Van Broeckhoven C., Mendlewicz J., Adolfsson R., Spence M.A., Luebbert H., Adams L.J., Donald J.A., Mitchell P.B., Barden N., Shink E., Byerley W., Muir W., Visscher P.M., Macgregor S., Gurling H., Kalsi G., McQuillin A., Escamilla M.A., Reus V.I., Leon P., Freimer N.B., Ewald H., Kruse T.A., Mors O., Radhakrishna U., Blouin J.L., Antonarakis S.E., Akarsu N. Genome scan meta-analysis of schizophrenia and bipolar disorderpart III: bipolar disorder. Am J Hum Genet 2003, 73:49-62.
108. Serretti A., Benedetti F., Mandelli L., Lorenzi C., Pirovano A., Colombo C., Smeraldi E. Genetic dissection of psychopathological symptoms: insomnia in mood disorders and CLOCK gene polymorphism. Am J Med Genet B Neuropsychiatr Genet 2003, 121B:35-38.
109. Serretti A., Cusin C., Benedetti F., Mandelli L., Pirovano A., Zanardi R., Colombo C., Smeraldi E. Insomnia improvement during antidepressant treatment and CLOCK gene polymorphism. Am J Med Genet B Neuropsychiatr Genet 2005, 137B:36-39.
110. Shi J., Wittke-Thompson J.K., Badner J.A., Hattori E., Potash J.B., Willour V.L., McMahon F.J., Gershon E.S., Liu C. Clock genes may influence bipolar disorder susceptibility and dysfunctional circadian rhythm. Am J Med Genet B Neuropsychiatr Genet 2008, in press.
111. Sklar P., Smoller J.W., Fan J., Ferreira M.A., Perlis R.H., Chambert K., Nimgaonkar V.L., McQueen M.B., Faraone S.V., Kirby A., de Bakker P.I., Ogdie M.N., Thase M.E., Sachs G.S., Todd-Brown K., Gabriel S.B., Sougnez C., Gates C., Blumenstiel B., Defelice M., Ardlie K.G., Franklin J., Muir W.J., McGhee K.A., MacIntyre D.J., McLean A., VanBeck M., McQuillin A., Bass N.J., Robinson M., Lawrence J., Anjorin A., Curtis D., Scolnick E.M., Daly M.J., Blackwood D.H., Gurling H.M., Purcell S.M. Whole-genome association study of bipolar disorder. Mol Psychiatry 2008, 13:558-569.
112. Smoller J.W., Finn C.T. Family, twin, and adoption studies of bipolar disorder. Am J Med Genet C Semin Med Genet 2003, 123C:48-58.
113. Smoller J.W., Gardner-Schuster E. Genetics of bipolar disorder. Curr Psychiatry Rep 2007, 9:504-511.
114. Sobczak S., Riedel W.J., Booij I., Aan Het Rot M., Deutz N.E., Honig A. Cognition following acute tryptophan depletion: difference between first-degree relatives of bipolar disorder patients and matched healthy control volunteers. Psychol Med 2002, 32:503-515.
115. Somanath C.P., Jain S., Janardhan Reddy Y.C. A family study of early-onset bipolar I disorder. J Affect Disord 2002, 70:91-94.
116. Spencer T.J., Biederman J., Wozniak J., Faraone S.V., Wilens T.E., Mick E. Parsing pediatric bipolar disorder from its associated comorbidity with the disruptive behavior disorders. Biol Psychiatry 2001, 49:1062-1070.
117. St Clair D., Blackwood D., Muir W., Carothers A., Walker M., Spowart G., Gosden C., Evans H.J. Association within a family of a balanced autosomal translocation with major mental illness. Lancet 1990, 336:13-16.
118. Sullivan P.F. Spurious genetic associations. Biol Psychiatry 2007, 61:1121-1126.
119. Taylor M., Abrams R. Early- and late-onset bipolar illness. Arch Gen Psychiatry 1981, 38:58-61.
120. Thaker G.K. Neurophysiological endophenotypes across bipolar and schizophrenia psychosis. Schizophr Bull 2008, 34:760-773.
121. A framework for interpreting genome-wide association studies of psychiatric disorders. Mol Psychiatry 2009, 14(1):10-17. The Psychiatric GWAS Consortium Steering Committee.
122. Thomson P.A., Christoforou A., Morris S.W., Adie E., Pickard B.S., Porteous D.J., Muir W.J., Blackwood D.H., Evans K.L. Association of neuregulin 1 with schizophrenia and bipolar disorder in a second cohort from the Scottish population. Mol Psychiatry 2007, 12:94-104.
123. Tsankova N., Renthal W., Kumar A., Nestler E.J. Epigenetic regulation in psychiatric disorders. Nat Rev Neurosci 2007, 8:355-367.
124. Tsuang M.T., Faraone S.V. The genetics of mood disorders 1990, Johns Hopkins University Press, Baltimore.
125. Tsuang M.T., Lyons M.J., Eisen S.A., Goldberg J., True W., Lin N., Meyer J.M., Toomey R., Faraone S.V., Eaves L. Genetic influences on DSM-III-R drug abuse and dependence: a study of 3,372 twin pairs. Am J Med Genet 1996, 67:473-477.
126. Valles V., Van Os J., Guillamat R., Gutierrez B., Campillo M., Gento P., Fananas L. Increased morbid risk for schizophrenia in families of in-patients with bipolar illness. Schizophr Res 2000, 42:83-90.
127. Van Den Bogaert A., Sleegers K., De Zutter S., Heyrman L., Norrback K.F., Adolfsson R., Van Broeckhoven C., Del-Favero J. Association of brain-specific tryptophan hydroxylase, TPH2, with unipolar and bipolar disorder in a Northern Swedish, isolated population. Arch Gen Psychiatry 2006, 63:1103-1110.
128. Veldic M., Kadriu B., Maloku E., Agis-Balboa R.C., Guidotti A., Davis J.M., Costa E. Epigenetic mechanisms expressed in basal ganglia GABAergic neurons differentiate schizophrenia from bipolar disorder. Schizophr Res 2007, 91:51-61.
129. Walsh T., McClellan J.M., McCarthy S.E., Addington A.M., Pierce S.B., Cooper G.M., Nord A.S., Kusenda M., Malhotra D., Bhandari A., Stray S.M., Rippey C.F., Roccanova P., Makarov V., Lakshmi B., Findling R.L., Sikich L., Stromberg T., Merriman B., Gogtay N., Butler P., Eckstrand K., Noory L., Gochman P., Long R., Chen Z., Davis S., Baker C., Eichler E.E., Meltzer P.S., Nelson S.F., Singleton A.B., Lee M.K., Rapoport J.L., King M.C., Sebat J. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008, 320:539-543.
130. Wehr T.A., Goodwin F.K., Wirz-Justice A., Breitmaier J., Craig C. 48-Hour sleep-wake cycles in manic-depressive illness: naturalistic observations and sleep deprivation experiments. Arch Gen Psychiatry 1982, 39:559-565.
131. Weiss L.A., Shen Y., Korn J.M., Arking D.E., Miller D.T., Fossdal R., Saemundsen E., Stefansson H., Ferreira M.A., Green T., Platt O.S., Ruderfer D.M., Walsh C.A., Altshuler D., Chakravarti A., Tanzi R.E., Stefansson K., Santangelo S.L., Gusella J.F., Sklar P., Wu B.L., Daly M.J. Association between microdeletion and microduplication at 16p112 and autism. N Engl J Med 2008, 358:667-675.
132. Genome-wide association study of 14,000 cases of seven common diseases and 3000 shared controls. Nature 2007, 447:661-678. Wellcome Trust Case Control Consortium.
133. Williams N.M., Green E.K., Macgregor S., Dwyer S., Norton N., Williams H., Raybould R., Grozeva D., Hamshere M., Zammit S., Jones L., Cardno A., Kirov G., Jones I., O'Donovan M.C., Owen M.J., Craddock N. Variation at the DAOA/G30 locus influences susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder. Arch Gen Psychiatry 2006, 63:366-373.
134. Wilson G.M., Flibotte S., Chopra V., Melnyk B.L., Honer W.G., Holt R.A. DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling. Hum Mol Genet 2006, 15:743-749.
135. Xu B., Roos J.L., Levy S., van Rensburg E.J., Gogos J.A., Karayiorgou M. Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008, 40:880-885.
136. Zammit S., Owen M.J. Stressful life events, 5-HTT genotype and risk of depression. Br J Psychiatry 2006, 188:199-201.
137. Zandi P.P., Belmonte P.L., Willour V.L., Goes F.S., Badner J.A., Simpson S.G., Gershon E.S., McMahon F.J., DePaulo J.R., Potash J.B. Association study of Wnt signaling pathway genes in bipolar disorder. Arch Gen Psychiatry 2008, 65:785-793.
138. Zaykin D.V., Zhivotovsky L.A. Ranks of genuine associations in whole-genome scans. Genetics 2005, 171:813-823.
139. Zeggini E., Scott L.J., Saxena R., Voight B.F., Marchini J.L., Hu T., de Bakker P.I., Abecasis G.R., Almgren P., Andersen G., Ardlie K., Bostrom K.B., Bergman R.N., Bonnycastle L.L., Borch-Johnsen K., Burtt N.P., Chen H., Chines P.S., Daly M.J., Deodhar P., Ding C.J., Doney A.S., Duren W.L., Elliott K.S., Erdos M.R., Frayling T.M., Freathy R.M., Gianniny L., Grallert H., Grarup N., Groves C.J., Guiducci C., Hansen T., Herder C., Hitman G.A., Hughes T.E., Isomaa B., Jackson A.U., Jorgensen T., Kong A., Kubalanza K., Kuruvilla F.G., Kuusisto J., Langenberg C., Lango H., Lauritzen T., Li Y., Lindgren C.M., Lyssenko V., Marvelle A.F., Meisinger C., Midthjell K., Mohlke K.L., Morken M.A., Morris A.D., Narisu N., Nilsson P., Owen K.R., Palmer C.N., Payne F., Perry J.R., Pettersen E., Platou C., Prokopenko I., Qi L., Qin L., Rayner N.W., Rees M., Roix J.J., Sandbaek A., Shields B., Sjogren M., Steinthorsdottir V., Stringham H.M., Swift A.J., Thorleifsson G., Thorsteinsdottir U., Timpson N.J., Tuomi T., Tuomilehto J., Walker M., Watanabe R.M., Weedon M.N., Willer C.J., Illig T., Hveem K., Hu F.B., Laakso M., Stefansson K., Pedersen O., Wareham N.J., Barroso I., Hattersley A.T., Collins F.S., Groop L., McCarthy M.I., Boehnke M., Altshuler D. Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet 2008, 40:638-645.
140. Zhang D., Cheng L., Qian Y., Alliey-Rodriguez N., Kelsoe J.R., Greenwood T., Nievergelt C., Barrett T.B., McKinney R., Schork N., Smith E.N., Bloss C., Nurnberger J., Edenberg H.J., Foroud T., Sheftner W., Lawson W.B., Nwulia E.A., Hipolito M., Coryell W., Rice J., Byerley W., McMahon F., Schulze T.G., Berrettini W., Potash J.B., Belmonte P.L., Zandi P.P., McInnis M.G., Zollner S., Craig D., Szelinger S., Koller D., Christian S.L., Liu C., Gershon E.S. Singleton deletions throughout the genome increase risk of bipolar disorder. Mol Psychiatry 2008, in press.
141. Zollner S., Pritchard J.K. Overcoming the winner's curse: estimating penetrance parameters from case-control data. Am J Hum Genet 2007, 80:605-615.