Genetics of bipolar disorder

Current Psychiatry Reports

Volumn 9, Issue 6, 2007, Pages 504-511

  Smoller, Jordan W ^a   Gardner Schuster, Erica ^b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BRAIN DERIVED NEUROTROPHIC FACTOR; CATECHOL METHYLTRANSFERASE; DEXTRO AMINO ACID OXIDASE; DIACYLGLYCEROL KINASE; DNA MARKER; DOPAMINE TRANSPORTER; LITHIUM; METHAMPHETAMINE; MOOD STABILIZER; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NEU DIFFERENTIATION FACTOR; SEROTONIN TRANSPORTER; TRYPTOPHAN HYDROXYLASE 2; VALPROIC ACID;

BIPOLAR DISORDER; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; FAMILY STUDY; GENE LOCUS; GENE TECHNOLOGY; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; LINKAGE ANALYSIS; MOLECULAR BIOLOGY; NONHUMAN; PHENOTYPE; REVIEW; TWINS;

BIPOLAR DISORDER; CHROMOSOME ABERRATIONS; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 37349014872     PISSN: 15233812     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11920-007-0069-8     Document Type: Review

References (72)

1. Kessler RC, Berglund P, Demler O, et al.: Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Arch Gen Psychiatry 2005, 62:593-602.
2. Goldberg JF, 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.
3. Fagiolini A, Kupfer DJ, Masalehdan A, et al.: Functional impairment in the remission phase of bipolar disorder. Bipolar Disord 2005, 7:281-285.
4. Smoller JW, Finn CT: Family, twin, and adoption studies of bipolar disorder. Am J Med Genet C Semin Med Genet 2003, 123:48-58.
5. Kendler KS, Pedersen NL, Neale MC, 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.
6. McGuffin P, Rijsdijk F, Andrew M, et al.: The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch Gen Psychiatry 2003, 60:497-502.
7. Kieseppa T, Partonen T, Haukka J, et al.: High concordance of bipolar I disorder in a nationwide sample of twins. Am J Psychiatry 2004, 161:1814-1821.
8. Spencer TJ, Biederman J, Wozniak J, et al.: Parsing pediatric bipolar disorder from its associated comorbidity with the disruptive behavior disorders. Biol Psychiatry 2001, 49:1062-1070.
9. Strober M, Morrell W, Burroughs J, et al.: 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.
10. Geller B, Tillman R, Bolhofner K, et al.: 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.
11. Faraone SV, Glatt SJ, Tsuang MT: The genetics of pediatric-onset bipolar disorder. Biol Psychiatry 2003, 53:970-977.
12. Leboyer M, Henry C, Paillere-Martinot ML, Bellivier F: Age at onset in bipolar affective disorders: a review. Bipolar Disord 2005, 7:111-118.
13. Lin PI, McInnis MG, Potash JB, et al.: Assessment of the effect of age at onset on linkage to bipolar disorder: evidence on chromosomes 18p and 21q. Am J Hum Genet 2005, 77:545-555.
14. Lin PI, McInnis MG, Potash JB, et al.: Clinical correlates and familial aggregation of age at onset in bipolar disorder. Am J Psychiatry 2006, 163:240-246.
15. Kassem L, Lopez V, Hedeker D, et al.: Familiality of polarity at illness onset in bipolar affective disorder. Am J Psychiatry 2006, 163:1754-1759.
16. Fisfalen ME, Schulze TG, DePaulo JR, Jr, et al.: Familial variation in episode frequency in bipolar affective disorder. Am J Psychiatry 2005, 162:1266-1272.
17. Potash JB, Chiu YF, MacKinnon DF, et al.: Familial aggregation of psychotic symptoms in a replication set of 69 bipolar disorder pedigrees. Am J Med Genet 2003, 116B:90-97.
18. Saunders EH, Scott LJ, McInnis MG, 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 [Epub ahead of print].
19. Grof P, Duffy A, Cavazzoni P, et al.: Is response to prophylactic lithium a familial trait? J Clin Psychiatry 2002, 63:942-947.
20. Badner JA, Gershon ES: Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 2002, 7:405-411.
21. McQueen MB, Devlin B, Faraone SV, et al.: 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.
22. Segurado R, Detera-Wadleigh SD, Levinson DF, et al.: Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: bipolar disorder. Am J Hum Genet 2003, 73:49-62.
23. Zandi PP, Badner JA, Steele J, et al.: Genome-wide linkage scan of 98 bipolar pedigrees and analysis of clinical covariates. Mol Psychiatry 2007, 12:630-639.
24. Willour VL, Zandi PP, Badner JA, et al.: Attempted suicide in bipolar disorder pedigrees: evidence for linkage to 2p12. Biol Psychiatry 2007, 61:725-727.
25. Goes FS, Zandi PP, Miao K, et al.: Mood-incongruent psychotic features in bipolar disorder: familial aggregation and suggestive linkage to 2p11-q14 and 13q21-33. Am J Psychiatry 2007, 164:236-247.
26. Murphy KC: Schizophrenia and velo-cardio-facial syndrome. Lancet 2002, 359:426-430.
27. Papolos DF, Faedda GL, Veit S, 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.
28. Blackwood DH, Fordyce A, Walker MT, et al.: Schizophrenia and affective disorders - cosegregation with a translocation at chromosome 1q42 that directly disrupts brain-expressed genes: clinical and P300 findings in a family. Am J Hum Genet 2001, 69:428-433.
29. Macgregor S, Visscher PM, Knott SA, et al.: A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42. Mol Psychiatry 2004, 9:1083-1090.
30. Porteous DJ, Thomson P, Brandon NJ, Millar JK: The genetics and biology of DISC1 - an emerging role in psychosis and cognition. Biol Psychiatry 2006, 60:123-131.
31. Maeda K, Nwulia E, Chang J, et al.: Differential expression of disrupted-in-schizophrenia (DISC1) in bipolar disorder. Biol Psychiatry 2006, 60:929-935.
32. Redon R, Ishikawa S, Fitch KR, et al.: Global variation in copy number in the human genome. Nature 2006, 444:444-454.
33. Wilkinson GR: Drug metabolism and variability among patients in drug response. N Engl J Med 2005, 352:2211-2221.
34. Sebat J, Lakshmi B, Malhotra D, et al.: Strong association of de novo copy number mutations with autism. Science 2007, 316:445-449.
35. Wilson GM, Flibotte S, Chopra V, et al.: DNA copy-number analysis in bipolar disorder and schizophrenia reveals aberrations in genes involved in glutamate signaling. Hum Mol Genet 2006, 15:743-749.
36. Lachman HM, Pedrosa E, Petruolo OA, et al.: Increase in GSK3beta gene copy number variation in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2007, 144:259-265.
37. Roybal K, Theobold D, Graham A, et al.: Mania-like behavior induced by disruption of CLOCK. Proc Natl Acad Sci U S A 2007, 104:6406-6411.
38. Le-Niculescu H, McFarland MJ, Mamidipalli S, et al.: Convergent Functional Genomics of bipolar disorder: from animal model pharmacogenomics to human genetics and biomarkers. Neurosci Biobehav Rev 2007, 31:897-903.
39. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K: A comprehensive review of genetic association studies. Genet Med 2002, 4:45-61.
40. Sullivan PF: Spurious genetic associations. Biol Psychiatry 2007, 61:1121-1126.
41. Ioannidis JP: Genetic associations: false or true? Trends Mol Med 2003, 9:135-138.
42. Kanazawa T, Glatt SJ, Kia-Keating B, et al.: Meta-analysis reveals no association of the Val66Met polymorphism of brain-derived neurotrophic factor with either schizophrenia or bipolar disorder. Psychiatr Genet 2007, 17:165-170.
43. Green ELK, Raybould R, Macgregor S, et al.: Genetic variation of brain-derived neurotrophic factor (BDNF) in bipolar disorder: case-control study of over 3000 individuals from the UK. Br J Psychiatry 2006, 188:21-25.
44. Muller DJ, de Luca V, Sicard T, et al.: Brain-derived neurotrophic factor (BDNF) gene and rapid-cycling bipolar disorder: family-based association study. Br J Psychiatry 2006, 189:317-323.
45. Lasky-Su JA, Faraone SV, Glatt SJ, Tsuang MT: 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.
46. Cho HJ, Meira-Lima I, Cordeiro Q, et al.: Population-based and family-based studies on the serotonin transporter gene polymorphisms and bipolar disorder: a systematic review and meta-analysis. Mol Psychiatry 2005, 10:771-781.
47. Chumakov I, Blumenfeld M, Guerassimenko O, et al.: Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci U S A 2002, 99:13675-13680.
48. Kvajo M, Dhilla A, Swor DE, et al.: Evidence implicating the candidate schizophrenia/bipolar disorder susceptibility gene G72 in mitochondrial function. Mol Psychiatry 2007 [Epub ahead of print].
49. Detera-Wadleigh SD, McMahon FJ: G72/G30 in schizophrenia and bipolar disorder: review and meta-analysis. Biol Psychiatry 2006, 60:106-114.
50. Gilbody S, Lewis S, Lightfoot T: Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review. Am J Epidemiol 2007, 165:1-13.
51. Craddock N, Forty L: Genetics of affective (mood) disorders. Eur J Hum Genet 2006, 14:660-668.
52. Fallin MD, Lasseter VK, Avramopoulos D, et al.: 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.
53. Martucci L, Wong AH, De Luca V, et al.: N-methyl-D-aspartate receptor NR2B subunit gene GRIN2B in schizophrenia and bipolar disorder: polymorphisms and mRNA levels. Schizophr Res 2006, 84:214-221.
54. De Luca V, Likhodi O, Van Tol HH, et al.: Tryptophan hydroxylase 2 gene expression and promoter polymorphisms in bipolar disorder and schizophrenia. Psychopharmacology (Berl) 2005, 183:378-382.
55. Van Den Bogaert A, Sleegers K, De Zutter S, et al.: 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.
56. Burdick KE, Funke B, Goldberg JF, et al.: COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance. Bipolar Disord 2007, 9:370-376.
57. Baum AE, Akula N, Cabanero M, et al.: A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry 2007 [Epub ahead of print].
58. Wellcome Trust Case Control Consortium: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007, 447:661-678.
59. Cardno AG, Sham PC, Murray RM, McGuffin P: Twin study of symptom dimensions in psychoses. Br J Psychiatry 2001, 179:39-45.
60. Potash JB, Zandi PP, Willour VL, et al.: Suggestive linkage to chromosomal regions 13q31 and 22q12 in families with psychotic bipolar disorder. Am J Psychiatry 2003, 160:680-686.
61. Kerner B, Brugman DL, Freimer NB: Evidence of linkage to psychosis on chromosome 5q33-34 in pedigrees ascertained for bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 2007, 144:74-78.
62. Green ELK, Raybould R, Macgregor S, et al.: 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.
63. Schulze TG, Ohlraun S, Czerski PM, et al.: Genotype-phenotype studies in bipolar disorder showing association between the DAOA/G30 locus and persecutory delusions: a first step toward a molecular genetic classification of psychiatric phenotypes. AM J Psychiatry 2005, 162:2101-2108.
64. Potash JB, Buervenich S, Cox NJ, et al.: Gene-based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: association with HMG2L1 and TOM1. Am J Med Genet B Neuropsychiatr Genet 2007 [Epub ahead of print].
65. Cardno AG, Rijsdijk FV, Sham PC, et al.: A twin study of genetic relationships between psychotic symptoms. Am J Psychiatry 2002, 159:539-545.
66. Williams NM, Green ELK, Macgregor S, et al.: 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.
67. Raybould R, Green ELK, MacGregor S, et al.: Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1). Biol Psychiatry 2005, 57:696-701.
68. Hodgkinson CA, Goldman D, Jaeger J, et al.: Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder. Am J Hum Genet 2004, 75:862-872.
69. Funke B, Malhotra AK, Finn CT, et al.: COMT genetic variation confers risk for psychotic and affective disorders: a case control study. Behav Brain Funct 2005, 1:19.
70. Palo OM, Antila M, Silander K, et al.: Association of distinct allelic haplotypes of DISC1 with psychotic and bipolar spectrum disorders and with underlying cognitive impairments. Hum Mol Genet 2007 [Epub ahead of print].
71. Pae CU, Serretti A, Mandelli L, et al.: Effect of 5-haplotype of dysbindin gene (DTNBP1) polymorphisms for the susceptibility to bipolar I disorder. Am J Med Genet B Neuropsychiatr Genet 2007, 144:701-703.
72. Kendler KS: Reflections on the relationship between psychiatric genetics and psychiatric nosology. Am J Psychiatry 2006, 163:1138-1146.