Sequence variation in DOCK9 and heterogeneity in bipolar disorder

Psychiatric Genetics

Volumn 17, Issue 5, 2007, Pages 274-286

  Detera Wadleigh, Sevilla D ^a   Liu, Chun Yu ^c   Maheshwari, Manjula ^d   Cardona, Imer ^a   Corona, Winston ^a   Akula, Nirmala ^a   Steele, C J M ^a   Badner, Judith A ^c   Kundu, Mukta ^a   Kassem, Layla ^a   Potash, James B ^b   Gibbs, Richard ^d   Gershon, Elliot S ^c   McMahon, Francis J ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF CHICAGO   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Allele; Association; Cdc42; Phenotypes; Transmission

Indexed keywords

PROTEIN CDC42; RHO GUANINE NUCLEOTIDE BINDING PROTEIN;

ALCOHOLISM; ALLELE; ARTICLE; BIPOLAR DISORDER; BIPOLAR MANIA; CHROMOSOMAL LOCALIZATION; CHROMOSOME 13Q; CONTROLLED STUDY; DELUSION; DISEASE COURSE; DISEASE SEVERITY; DOCK9 GENE; FAMILY STUDY; FOLLOW UP; GENE; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MANIC DEPRESSIVE PSYCHOSIS; MARKER GENE; NUCLEOTIDE SEQUENCE; PARENT; PHENOTYPE; POLYMORPHIC LOCUS; PRIORITY JOURNAL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTANCE ABUSE; SUICIDE ATTEMPT; THINKING;

BIPOLAR DISORDER; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEVERITY OF ILLNESS INDEX; VARIATION (GENETICS);

EID: 34548337050     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/YPG.0b013e328133f352     Document Type: Article

References (76)

1. Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, et al. (2004). Genomewide scan in families with schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. Am J Hum Genet 74:403-417.
2. Addington AM, Gornick M, Sporn AL, Gogtay N, Greenstein D, Lenane M, et al. (2004). Polymorphisms in the 13q33.2 gene G72/G30 are associated with childhood-onset schizophrenia and psychosis not otherwise specified. Biol Psychiatry 55:976-980.
3. Akula N, Chen YS, Hennessy K, Schulze TG, Singh G, McMahon FJ (2002). Utility and accuracy of template-directed dye-terminator incorporation with fluorescence-polarization detection for genotyping single nucleotide polymorphisms. Biotechniques 32:1072-1076.
4. American Psychiatric Association (1987). Diagnostic and Statistical Manual of Mental Disorders (DSM-III-R). 3rd ed. Washington, DC: APA.
5. American Psychiatric Association (1994). Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). Washington, DC: APA.
6. Angst J, Angst F, Gerber-Werder R, Gamma A (2005). Suicide in 400 mood-disorder patients with or without long-term medication: a 40 to 44 years' follow-up. Arch Suicide Res 9:279-300.
7. Anttila V, Kallela M, Oswell G, Kaunisto MA, Nyholt DR, Hämälä inen E, et al. (2006). Trait components provide tools to dissect the genetic susceptibility of migraine. Am J Hum Genet 79:85-99.
8. Badenhop RF, Moses MJ, Scimone A, Mitchell PB, Ewen KR, Rosso A, et al. (2001). A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q. Mol Psychiatry 6:396-403.
9. Badner JA, Gershon ES (2002). Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 7:405-411.
10. Barrett JC, Fry B, Maller J, Daly MJ (2005). Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263-265.
11. Berrettini WH, Goldin LR, Martinez MM, Maxwell ME, Smith AL, Guroff JJ, et al. (1991). A bipolar pedigree series for genomic mapping of disease genes: diagnostic and analytic considerations. Psychiatr Genet 2:125-160.
12. Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, et al. (1998). Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 20:70-73.
13. Brzustowicz LM, Honer WG, Chow EW, Little D, Hogan J, Hodgkinson K, et al. (1999). Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet 65:1096-1103.
14. Chumakov I, Blumenfeld M, Guerassimenko O, Cavarec L, Palicio M, Abderrahim H et al. (2002). 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 99:13675-13680.
15. Detera-Wadleigh SD, McMahon FJ (2006). G72/G30 in schizophrenia and bipolar disorder: review and meta-analysis. Biol Psychiatry 60:106-114.
16. Detera-Wadleigh SD, Badner JA, Berrettini WH, Yoshikawa T, Goldin LR, Turner G, et al. (1999). A high-density genome scan detects evidence for a bipolar-disorder susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2. Proc Natl Acad Sci U S A 96:5604-5609.
17. Dick DM, Foroud T, Flury L, Bowman ES, Miller MJ, Rau NL, et al. (2003). Genomewide linkage analyses of bipolar disorder: a new sample of 250 pedigrees from the National Institute of Mental Health Genetics Initiative. Am J Hum Genet 73:107-114.
18. Doughty CJ, Wells JE, Joyce PR, Olds RJ, Walsh AES (2004). Bipolar-panic disorder comorbidity within bipolar disorder families: a study of siblings. Bipolar Disord 6:245-252.
19. Dudbridge F (2003). Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 25:115-221.
20. Endicott J, Spitzer RL (1978). A diagnostic interview: the schedule for affective disorders and schizophrenia. Arch Gen Psychiatry 35:837-844.
21. Faraone SV, Skol AD, Tsuang DW, Bingham S, Young KA, Prabhudesai S, et al. (2002). Linkage of chromosome 13q32 to schizophrenia in a large veterans affairs cooperative study sample. Am J Med Genet 114:598-604.
22. Fisfalen ME, Schulze TG, DePaulo JR Jr, DeGroot LJ, Badner JA, McMahon FJ (2005). Familial variation in episode frequency in bipolar affective disorder. Am J Psychiatry 162:1266-1272.
23. Fisher S, Grice Ea, Vinton RM, Bessling S, McCallion A (2006). Conservation of RET regulatory function from human to zebrafish without sequence similarity. Science 312:276-279.
24. Freeman MP, Freeman SA, McElroy SL (2002). The comorbidity of bipolar and anxiety disorders: prevalence, psychobiology, and treatment issues. J Affect Disord 68:1-23.
25. Funke B, Malhotra AK, Finn CT, Plocik AM, Lake SL, Lencz T et al. (2005). COMT genetic variation confers risk for psychotic and affective disorders: a case control study. Behav Brain Funct 1:19-27.
26. Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. (2002). The structure of haplotype blocks in the human genome. Science 296:2225-2229.
27. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CS, Pauls DL, et al. (1996). A genome-wide search for chromosomal loci linked to bipolar affective disorder in the Old Order Amish. Nat Genet 12:431-435.
28. Goodwin FK, Jamieson KR (1990). Manic-depressive illness. New York: Oxford University Press.
29. Green EK, Raybould R, MacGregor S, Gordon-Smith K, Heron J, Hyde S, et al. (2005). Operation of the schizophrenia susceptibility gene, neuregulin 1, across traditional diagnostic boundaries to increase risk for bipolar disorder. Arch Gen Psychiatry 62:642-648.
30. Hall A (2005). Rho GTPases and the control of cell behaviour. Biochem Soc Trans 33 (Pt 5):891-895.
31. Hattori E, Liu C, Badner JA, Bonner TI, Christian SL, Maheshwari M, et al. (2003). Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet 72:1131-1140.
32. Hedeker DR and Gibbons RD (1996a). MIXREG: a computer program for mixed-effects regression analysis with autocorrelated errors. Comput Methods Programs Biomed 49:229-252.
33. Hedeker DR, Gibbons RD (1996b). MIXOR: a computer program for mixed-effects ordinal regression analysis. Comput Methods Programs Biomed 49:157-176.
34. Kassem L, Lopez V, Hedeker D, Steele CJM, Zandi P, The NIMH Genetics Initiative Bipolar Disorder Consortium, McMahon FJ (2006). Polarity at onset is a familial feature of bipolar affective disorder. Am J Psychiatry 163:1754-1759.
35. Kelsoe JR, Spence MA, Loetscher E, Foguet M, Sadovnick AD, Remick RA, et al. (2001). A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc Natl Acad Sci U S A 98:585-590.
36. Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A (1999). Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res 6:197-205.
37. Laird N, Horvath S, Xu X (2000). Implementing a unified approach to family based tests of association. Genet Epidemiol 19 (Suppl 1):S36-S42.
38. Li Z, Van Aelst L, Cline HT (2000). Rho GTPases regulate distinct aspects of dendritic arbor growth in Xenopus central neurons in vivo. Nat Neurosci 3:217-225.
39. Lin MW, Sham P, Hwu HG, Collier D, Murray R, Powell JF (1997). Suggestive evidence for linkage of schizophrenia to markers on chromosome 13 in Caucasian but not Oriental populations. Hum Genet 99:417-420.
40. Liu C, Badner JA, Christian SL, Guroff J, Detera-Wadleigh SD, Gershon ES (2001). Fine mapping supports previous linkage evidence for a bipolar disorder susceptibility locus on 13q32. Am J Med Genet (Neuropsych Genet) 105:375-380.
41. Liu J, Juo SH, Dewan A, Grunn A, Tong X, Brito M, et al. (2003). Evidence for a putative bipolar disorder locus on 2p13-16 and other potential loci on 4q31, 7q34, 8q13, 9q31, 10q21-24, 13q32, 14q21 and 17q11-12. Mol Psychiatry 8:333-342.
42. Luo L (2002). Actin cytoskeleton regulation in neuronal morphogenesis and structural plasticity. Ann Rev Cell Dev Biol 18:601-635.
43. MacKinnon DF, Zandi P, Cooper J, Potash JB, Simpson SG, Gershon E, et al. (2002). Comorbid bipolar disorder and panic disorder in families with a high prevalence of bipolar disorder. Am J Psychiatry 159:30-35.
44. MacQueen GM, Hajek T, Alda M (2005). The phenotypes of bipolar disorder: relevance for genetic investigations. Mol Psychiatry 10:811-826.
45. McInnis MG, Lan TH, Willour VL, McMahon FJ, Simpson SG, Addington AM, et al. (2003). Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12. Mol Psychiatry 8:288-298.
46. McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, et al. (2005). Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet 77:582-595.
47. Meller N, Irani-Tehrani M, Kiosses WB, Del Pozo MA, Schwartz MA (2002). Zizimin1, a novel Cdc42 activator, reveals a new GEF domain for Rho proteins. Nat Cell Biol 4:639-647.
48. Meller N, Merlot S, Guda C (2005). CZH proteins: a new family of Rho-GEFs. J Cell Sci 118 (Pt 21):4937-4946.
49. Murphy DL, Uhl GR, Holmes A, Ren-Patterson R, Hall FS, Sora I, et al. (2003). Experimental gene interaction studies with SERT mutant mice as models for human polygenic and epistatic traits and disorders. Genes Brain Behav 2:350-364.
50. Nurnberger JI Jr, Blehar MC, Kaufman CA, York-Coller C, Simpson SG, Harkavy-Friedman J, et al. (1994). Diagnostic interview for genetic studies: rationale, unique features, and training. Arch Gen Psychiatry 51:849-859.
51. Nurnberger JI Jr, DePaulo JR, Gershon ES, Reich T, Blehar MC, Edenberg H, et al. (1997). Genomic survey of bipolar illness in the NIMH genetics initiative pedigrees: a preliminary report. Am J Med Genet 74:227-237.
52. Park N, Juo SH, Cheng R, Liu J, Loth JE, Lilliston B, et al. (2004). Linkage analysis of psychosis in bipolar pedigrees suggests novel putative loci for bipolar disorder and shared susceptibility with schizophrenia. Mol Psychiatry 9:1091-1099.
53. Pennacchio LA, Ahituv N, Moses AM, Prabhakar S, Nobrega MA, Shoukry M, et al. (2006). In vivo enhancer analysis of human conserved non-coding sequences. Nature 444:499-502.
54. Pianese I, Porcellini A, Avvidemento VE, D'Esposito F, Felliciello A, Monticelli A, et al. (1994). A novel thyroid transcript negatively regulated by TSH. Mol Biol (Life Sci Adv) 13:75-83.
55. Pope HG Jr, Lipinski JF Jr (1978). Diagnosis in schizophrenia and manic-depressive illness. Arch Gen Psychiatry 35:811-828.
56. Potash JB, Zandi PP, Willour VL, Lan TH, Huo Y, Avramopoulos D, et al. (2003). Suggestive linkage to chromosomal regions 13q31 and 22q12 in families with psychotic bipolar disorder. Am J Psychiatry 160:680-686.
57. Raybould R, Green E, MacGregor S, Gordon-Smith K, Heron J, Hyde S, et al. (2005). Bipolar disorder and polymorphisms in the dysbindin gene. Biol Psychiatry 57:696-701.
58. Regier DA, Farmer ME, Rae DS, Locke BZ, Keith SJ, Judd LL, Goodwin FK (1990). Comorbidity of mental disorders with alcohol and other drug abuse. Results from the epidemiologic catchment area (ECA) study. JAMA 264:2511-2518.
59. Schulze TG, McMahon FJ (2004). Defining the phenotype in human genetic studies: forward genetics and reverse phenotyping. Hum Hered 58:131-138.
60. Schulze TG, Ohlraun S, Czerski PM, Schumacher J, Kassem L, Deschner M, et al. (2005). 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 162:2101-2108.
61. Schulze TG, Hedeker D, Zandi P, Rietschel M, McMahon FJ (2006). What is familial about familial bipolar disorder? Resemblance among relatives across a broad spectrum of phenotypic characteristics. Arch Gen Psychiatry 63:1368-1376.
62. Schwab SG, Knapp M, Mondabon S, Hallmayer J, Borrmann-Hassenbach M, Albus M, et al. (2003). Support for association of schizophrenia with genetic variation in the 6p22.3 gene, dysbindin, in sib-pair families with linkage and in an additional sample of triad families. Am J Hum Genet 72:185-190.
63. Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI Jr, et al. (2003). Genome scan meta-analysis of schizophrenia and bipolar disorder, Part III: Bipolar Disorder. Am J Hum Genet 73:49-62.
64. Shaw SH, Kelly M, Smith AB, Shields G, Hopkins PJ, Loftus J, et al. (1998). A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet 81:364-376.
65. Shaw SH, Mroczkowski-Parker Z, Shekhtman T, Alexander M, Remick RA, Sadovnick AD, et al. (2003). Linkage of a bipolar disorder susceptibility locus to human chromosome 13q32 in a new pedigree series. Mol Psychiatry 8:558-564.
66. Shen W, Wu B, Zhang Z, Dou Y, Rao ZR, Chen YR, Duan S (2006). Activity-induced rapid synaptic maturation mediated by presynaptic cdc42 signaling. Neuron 50:401-414.
67. Shin JT, Priest JR, Ovcharenko I, Ronco A, Moore RK, Burns CG, et al. (2005). Human-zebrafish non-coding conserved elements act in vivo to regulate transcription. Nucl Acids Res 33:5437-5445.
68. Simpson SG, Folstein SE, Meyers DA, DePaulo JR (1992). Assessment of lineality in bipolar linkage studies. Am J Psychiatry 149:1660-1665.
69. Spitzer RL, Endicott J, Robins E (1978). Research diagnostic criteria: rationale and reliability. Arch Gen Psychiatry 35:773-782.
70. Stine OC, McMahon FJ, Chen L, Xu J, Meyers DA, MacKinnon DF, et al. (1997). Initial genome screen for bipolar disorder in the NIMH genetics initiative pedigrees: chromosomes 2, 11, 13, 14, and X. Am J Med Genet 74:263-269.
71. Straub RE, Jiang Y, MacLean CJ, Ma Y, Webb BT, Myakishev MV, et al. (2002). Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet 71:337-348.
72. Threadgill R, Bobb K, Ghosh A (1997). Regulation of dendritic growth and remodeling by Rho, Rac, and Cdc42. Neuron 19:625-634.
73. Wallace C, Xue MZ, Newhouse SJ, Marçano ACB, Onipinla AK, Burke B, et al. (2006). Linkage analysis using co-phenotypes in the BRIGHT study reveals novel potential susceptibility loci for hypertension. Am J Hum Genet 79:323-331.
74. Williams NM, Green EK, Macgregor S, Dwyer S, Norton N, Williams H, et al. (2006). Variation at the DAOA/G30 locus influence susceptibility to major mood episodes but not psychosis in schizophrenia and bipolar disorder. Arch Gen Psychiatry 63:366-373.
75. Winokur G, Coryell W, Endicott J, Keller M, Akishkal H, Solomon D (1996). Familial alcoholism in manic-depressive (bipolar) disease. Am J Med Genet 67:197-201.
76. Woolfe A, Goodson M, Goode DK, Snell P, McEwen GK, Vavouri T, et al. (2005). Highly conserved non-coding sequences are associated with vertebrate development. PLoS Biology 3:116-130.