Genomic structural variation and schizophrenia

Current Psychiatry Reports

Volumn 10, Issue 2, 2008, Pages 171-177

  Mulle, Jennifer Gladys ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; DISRUPTED IN SCHIZOPHRENIA 1 PROTEIN; UNCLASSIFIED DRUG;

BIPOLAR DISORDER; CHROMOSOME 22Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION 1; CHROMOSOME TRANSLOCATION 11; FAMILY HISTORY; GENE REARRANGEMENT; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIABILITY; HUMAN; PHENOTYPIC VARIATION; REVIEW; RISK FACTOR; SCHIZOPHRENIA; CHROMOSOME 1; CHROMOSOME 11; CHROMOSOME 22; CHROMOSOME STRUCTURE; GENE DUPLICATION; GENE TRANSLOCATION; GENETICS; GENOTYPE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME DELETION; CHROMOSOME STRUCTURES; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 22; GENE DUPLICATION; GENOTYPE; HUMANS; PHENOTYPE; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA; TRANSLOCATION, GENETIC; VARIATION (GENETICS);

EID: 46449121409     PISSN: 15233812     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11920-008-0029-y     Document Type: Review

References (84)

1. Sebat J, Lakshmi B, Troge J, et al.: Large-scale copy number polymorphism in the human genome. Science 2004, 305:525-528.
2. Iafrate AJ, Fenk L, Rivera MN, et al.: Detection of large-scale variation in the human genome. Nat Genet 2004, 36:949-951.
3. Sharp AJ, Locke DP, McGrath SD, et al.: Segmental duplications and copy-number variation in the human genome. Am J Hum Genet 2005, 77:78-88.
4. Tuzun E, Sharp AJ, Bailey JA, et al.: Fine-scale structural variation of the human genome. Nat Genet 2005, 37:727-732.
5. McCarroll SA, Hadnott TN, Perry GH, et al.: Common deletion polymorphisms in the human genome. Nat Genet 2006, 38:86-92.
6. Conrad DF, Andrews TD, Carter NP, et al.: A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 2006, 38:75-81.
7. Redon R, Ishikawa S, Fitch KR, et al.: Global variation in copy number in the human genome. Nature 2006, 444:444-454.
8. Dean M, Carrington M, Winkler C, et al.: Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science 1996, 273:1856-1862.
9. Liu R, Paxton WA, Choe S, et al.: Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection. Cell 1996, 86:367-377.
10. Novembre J, Galvani AP, Slatkin M: The geographic spread of the CCR5 Delta32 HIV-resistance allele. PLoS Biol 2005, 3:e339.
11. Gonzalez E, Kulkarni H, Bolivar H, et al.: The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science 2005, 307:1434-1440.
12. Aitman TJ, Dong R, Vyse TJ, et al.: Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature 2006, 439:851-855.
13. Gottesman II: Schizophrenia: The Epigenetic Puzzle. Cambridge: Cambridge University Press; 1984.
14. Rao DC, Morton NE, Gottesman II, Lew R: Path analysis of qualitative data on pairs of relatives: application to schizophrenia. Hum Hered 1981, 31:325-333.
15. Gurling HM, Kalsi G, Brynjolfson J, et al.: Genomewide genetic linkage analysis confirms the presence of susceptibility loci for schizophrenia, on chromosomes 1q32.2, 5q33.2, and 8p21-22 and provides support for linkage to schizophrenia, on chromosomes 11q23.3-24 and 20q12.1-11.23. Am J Hum Genet 2001, 68:661-673.
16. Hovatta I, Varilo T, Suvisaari J, et al.: A genomewide screen for schizophrenia genes in an isolated Finnish subpopulation, suggesting multiple susceptibility loci. Am J Hum Genet 1999, 65:1114-1124.
17. Brzustowicz LM, Hodgkinson KA, Chow EW, et al.: Location of a major susceptibility locus for familial schizophrenia on chromosome 1q21-q22. Science 2000, 288:678-682.
18. Paunio T, Ekelund J, Varilo T, et al.: Genome-wide scan in a nationwide study sample of schizophrenia families in Finland reveals susceptibility loci on chromosomes 2q and 5q. Hum Mol Genet 2001, 10:3037-3048.
19. Ekelund J, Lichtermann D, Hovatta I, et al.: Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet 2000, 9:1049-1057.
20. Lindholm E, Ekholm B, Shaw S, et al.: A schizophrenia-susceptibility locus at 6q25, in one of the world's largest reported pedigrees. Am J Hum Genet 2001, 69:96-105.
21. Wang S, Sun CE, Walczak CA, et al.: Evidence for a susceptibility locus for schizophrenia on chromosome 6pter-p22. Nat Genet 1995, 10:41-46.
22. Schwab SG, Hallmayer J, Albus M, et al.: A genome-wide autosomal screen for schizophrenia susceptibility loci in 71 families with affected siblings: support for loci on chromosome 10p and 6. Mol Psychiatry 2000, 5:638-649.
23. Blouin JL, Dombroski BA, Nath SK, et al.: Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 1998, 20:70-73.
24. Faraone SV, Matise T, Svrakic D, et al.: Genome scan of European-American schizophrenia pedigrees: results of the NIMH Genetics Initiative and Millennium Consortium. Am J Med Genet 1998, 81:290-295.
25. DeLisi LE, Shaw SH, Crow TJ, et al.: A genome-wide scan for linkage to chromosomal regions in 382 sibling pairs with schizophrenia or schizoaffective disorder. Am J Psychiatry 2002, 159:803-812.
26. Brzustowicz LM, Honer WG, Chow EW, et al.: Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet 1999, 65:1096-1103.
27. Shaw SH, Kelly M, Smith AB, et al.: A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet 1998, 81:364-376.
28. Coon H, Jensen S, Holik J, et al.: Genomic scan for genes pre-disposing to schizophrenia. Am J Med Genet 1994, 54:59-71.
29. Stober G, Saar K, Ruschendorf F, et al.: Splitting schizophrenia: periodic catatonia-susceptibility locus on chromosome 15q15. Am J Hum Genet 2000, 67:1201-1207.
30. Hennah W, Varilo T, Kestila M, et al.: Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects. Hum Mol Genet 2003, 12:3151-3159.
31. Millar JK, Wilson-Annan JC, Anderson S, et al.: Disruption of two novel genes by a translocation co-segregating with schizophrenia. Hum Mol Genet 2000, 9:1415-1423.
32. Chowdari KV, Mirnics K, Semwal P, et al.: Association and linkage analyses of RGS4 polymorphisms in schizophrenia. Hum Mol Genet 2002, 11:1373-1380.
33. Morris DW, Rodgers A, McGhee KA, et al.: Confirming RGS4 as a susceptibility gene for schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2004, 125:50-53.
34. Williams NM, Preece A, Spurlock G, et al.: Support for RGS4 as a susceptibility gene for schizophrenia. Biol Psychiatry 2004, 55:192-195.
35. Zhang F, St Clair D, Liu X, et al.: Association analysis of the RGS4 gene in Han Chinese and Scottish populations with schizophrenia. Genes Brain Behav 2005, 4:444-448.
36. Straub RE, Jiang Y, MacLean CJ, et al.: Genetic variation in the 6p22.3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia. Am J Hum Genet 2002, 71:337-348.
37. Williams NM, Preece A, Morris DW, et al.: Identification in 2 independent samples of a novel schizophrenia risk haplotype of the dystrobrevin binding protein gene (DTNBP1). Arch Gen Psychiatry 2004, 61:336-344.
38. Tang JX, Zhou J, Fan JB, et al.: Family-based association study of DTNBP1 in 6p22.3 and schizophrenia. Mol Psychiatry 2003, 8:717-718.
39. van den Oord EJ, Sullivan PF, Jiang Y, et al.: Identification of a high-risk haplotype for the dystrobrevin binding protein 1 (DTNBP1) gene in the Irish study of high-density schizophrenia families. Mol Psychiatry 2003, 8:499-510.
40. Schwab SG, Knapp M, Mondabon S, et al.: 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 2003, 72:185-190.
41. Van Den Bogaert A, Schumacher J, Schulze TG, et al.: The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease. Am J Hum Genet 2003, 73:1438-1443.
42. Stefansson H, Sigurdsson E, Steinthorsdottir V, et al.: Neuregulin 1 and susceptibility to schizophrenia. Am J Hum Genet 2002, 71:877-892.
43. Stefansson H, Sarginson J, Kong A, et al.: Association of neuregulin 1 with schizophrenia confirmed in a Scottish population. Am J Hum Genet 2003, 72:83-87.
44. Li T, Stefansson H, Gudfinnsson E, et al.: Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype. Mol Psychiatry 2004, 9:698-704.
45. Zhao X, Shi Y, Tang J, et al.: A case control and family based association study of the neuregulin1 gene and schizophrenia. J Med Genet 2004, 41:31-34.
46. Tang JX, Chen WY, He G, et al.: Polymorphisms within 5′ end of the Neuregulin 1 gene are genetically associated with schizophrenia in the Chinese population. Mol Psychiatry 2004, 9:11-12.
47. Williams NM, Preece A, Spurlock G, et al.: Support for genetic variation in neuregulin 1 and susceptibility to schizophrenia. Mol Psychiatry 2003, 8:485-487.
48. Kim JW, Lee YS, Cho EY, et al.: Linkage and association of schizophrenia with genetic variations in the locus of neuregulin 1 in Korean population. Am J Med Genet B Neuropsychiatr Genet 2006, 141:281-286.
49. 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.
50. Addington AM, Gornick M, Sporn AL, et al.: Polymorphisms in the 13q33.2 gene G72/G30 are associated with childhood-onset schizophrenia and psychosis not otherwise specified. Biol Psychiatry 2004, 55:976-980.
51. Schumacher J, Jamra RA, Freudenberg J, et al.: Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder. Mol Psychiatry 2004, 9:203-207.
52. Jacquet H, Raux G, Thibaut F, et al.: PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. Hum Mol Genet 2002, 11:2243-2249.
53. Karayiorgou M, Morris MA, Morrow B, et al.: Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A 1995. 92:7612-7616.
54. Li T, Sham PC, Vallada H, et al.: Preferential transmission of the high activity allele of COMT in schizophrenia. Psychiatr Genet 1996, 6:131-133.
55. Shifman S, Bronstein M, Sternfeld M, et al.: A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet 2002, 71:1296-1302.
56. 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.
57. Rizig MA, McQuillin A, Puri V, et al.: Failure to confirm genetic association between schizophrenia and markers on chromosome 1q23.3 in the region of the gene encoding the regulator of G-protein signaling 4 protein (RGS4). Am J Med Genet B Neuropsychiatr Genet 2006, 141:296-300.
58. Sobell JL, Richard C, Wirshing DA, Heston LL: Failure to confirm association between RGS4 haplotypes and schizophrenia in Caucasians. Am J Med Genet B Neuropsychiatr Genet 2005, 139:23-27.
59. Cordeiro Q, Talkowski ME, Chowdari KV, et al.: Association and linkage analysis of RGS4 polymorphisms with schizophrenia and bipolar disorder in Brazil. Genes Brain Behav 2005, 4:45-50.
60. Morris DW, McGhee KA, Schwaiger S, et al.: No evidence for association of the dysbindin gene [DTNBP1] with schizophrenia in an Irish population-based study. Schizophr Res 2003, 60:167-172.
61. Ohtsuki T, Tanaka S, Ishiguro H, et al.: Failure to find association between PRODH deletion and schizophrenia. Schizophr Res 2004, 67:111-113.
62. Iwata N, Suzuki T, Ikeda M, et al.: No association with the neuregulin 1 haplotype to Japanese schizophrenia. Mol Psychiatry 2004, 9:126-127.
63. Mulle JG, Chowdari KV, Nimgaonkar V, Chakravarti A: No evidence for association to the G72/G30 locus in an independent sample of schizophrenia families. Mol Psychiatry 2005, 10:431-433.
64. Williams HJ, Williams N, Spurlock G, et al.: Detailed analysis of PRODH and PsPRODH reveals no association with schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2003, 120:42-46.
65. Fan JB, Zhang CS, Gu NF, et al.: Catechol-O-methyl-transferase gene Val/Met functional polymorphism and risk of schizophrenia: a large-scale association study plus meta-analysis. Biol Psychiatry 2005, 57:139-144.
66. Hong CJ, Huo SJ, Liao DL, et al.: Case-control and family-based association studies between the neuregulin 1 (Arg38Gln) polymorphism and schizophrenia. Neurosci Lett 2004, 366:158-161.
67. Thiselton DL, Webb BT, Neale BM, et al.: No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF). Mol Psychiatry 2004, 9:777-783; image 729.
68. Fan JB, Ma J, Zhang CS, et al.: A family-based association study of T1945C polymorphism in the proline dehydrogenase gene and schizophrenia in the Chinese population. Neurosci Lett 2003, 338:252-254.
69. Williams HJ, Glaser B, Williams NM, et al.: No association between schizophrenia and polymorphisms in COMT in two large samples. Am J Psychiatry 2005, 162:1736-1738.
70. Ryan AK, Goodship JA, Wilson DI, et al.: Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997, 34:798-804.
71. Ivanov D, Kirov G, Norton N, et al.: Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis. Molecular genetic study. Br J Psychiatry 2003, 183:409-413.
72. Sporn A, Addington A, Reiss AL, et al.: 22q11 deletion syndrome in childhood onset schizophrenia: an update. Mol Psychiatry 2004, 9:225-226.
73. Gothelf D, Presburger G, Zohar AH, et al.: Obsessive-compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome. Am J Med Genet B Neuropsychiatr Genet 2004, 126:99-105.
74. Bassett AS, Chow EW, Husted J, et al.: Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 2005, 138:307-313.
75. Liu H, Heath SC, Sobin C, et al.: Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. Proc Natl Acad Sci U S A 2002, 99:3717-3722.
76. Li T, Ma X, Sham PC, et al.: Evidence for association between novel polymorphisms in the PRODH gene and schizophrenia in a Chinese population. Am J Med Genet B Neuropsychiatr Genet 2004, 129:13-15.
77. Abou Jamra R, Schumacher J, Becker T, et al.: No evidence for an association between variants at the proline dehydrogenase locus and schizophrenia or bipolar affective disorder. Psychiatr Genet 2005, 15:195-198.
78. Bassett AS, Chow EW: Schizophrenia and 22q11.2 deletion syndrome. Curr Psychiatry Rep 2008, 10:148-157.
79. 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.
80. 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.
81. 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.
82. Kirov G, Gumus D, Chen W, et al.: Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet 2008, 17:458-465.
83. 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.
84. Sutrala SR, Goossens D, Williams NM, et al.: Gene copy number variation in schizophrenia. Schizophr Res 2007, 96:93-99.