Dissecting the genetic complexity of schizophrenia

Molecular Psychiatry

Volumn 2, Issue 3, 1997, Pages 211-223

  Karayiorgou, M ^a   Gogos, J A ^a,b  

^a ROCKEFELLER UNIVERSITY   (United States)

^b Center for Neurobiology and Behavior ^*  (United States)

Author keywords

Abnormalities; Anticipation; Association studies; Chromosomal; Genetics; Linkage; Schizophrenia; Syndromes

Indexed keywords

CHROMOSOME 22Q; CHROMOSOME 6P; CHROMOSOME 8P; DNA POLYMORPHISM; FAMILY STUDY; GENE LOCATION; GENETIC LINKAGE; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENOME; HUMAN; INHERITANCE; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA;

EID: 0030929141     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4000271     Document Type: Review

References (161)

1. Murray RM, Lewis SW. Is schizophrenia a neurodevolopmental disorder? [Editorial] Br Med J Clin Res Ed 1987; 295: 681-682.
2. Weinberger DR. Implications of normal brain development for the pathogenesis of schizophrenia. Arch Gen Psychiatry 1987; 44: 660-669.
3. Roberts GW, Schizophrenia: a neuropathological perspective. Br J Psychiatry 1991; 158: 8-17.
4. Cannon TD, Marco E. Structural brain abnormalities as indicators of vulnerability to schizophrenia. Schiz Bull 1994; 20: 89-102.
5. Murray RM. Neurodevelopmental schizophrenia: the rediscovery of dementia praecox. Br J Psychiatry 1994; 165: 6-12.
6. Suddath RL, Christison GW, Torrey EF, Casanova MF, Weinberger DR. Anatomical abnormalities in the brains of monozygotic twins discordant for schizophrenia. N Engl J Med 1990; 322: 789-794.
7. Zipursky RB, Marsh L, Lim KO, DeMent S, Shear PK, Sullivan EV, Murphy GM, Csernansky JG, Pfefferbaum A. Volumetric: MRI assessment of temporal lobe structures in schizophrenia. Biol Psychiatry 1994; 35: 501-516.
8. Akbarian S, Vinuela A, Kim JJ, Potkin SG, Bunney WE Jr, Jones EG. Distorted distribution of nicotinamide-adenine dinucleotide phosphate-diaphorase neurons in temporal lobe of schizophrenics implies anomalous cortical development. Arch Gen Psych 1993; 50: 178-187.
9. McNeil TF. Perinatal risk factors and schizophrenia: selective review and methodological concerns. Epidem Rev 1995; 17: 107.
10. Sacker A, Done DJ, Crow TJ, Golding J. Antecedents of schizophrenia and affective illness. Obstetric complications. Br J Psychiatry 1995; 166: 734.
11. Eyler-Zorrilla L, Cannon TD. Structural brain abnormalities in schizophrenia: distribution, etiology, and implications. In: Mednick SA, Hollister JM (eds). Neural Development and Schizophrenia. Theory and Research. Plenum: New York, 1995. pp 57-69.
12. Susser E, Neugebauer R, Hoek HW, Brown AS, Lin S, Labovitz D, Gorman JM. Schizophrenia after prenatal famine. Further evidence. Arch Gen Psychiatry 1996; 53: 25-31.
13. Knight J, Knight A, Ungvari G. Can autoimmune mechanisms account for the genetic predisposition to schizophrenia? Br J Psychiatry 1992; 160: 533-540.
14. Eaton WW, Hayward C, Ram R. Schizophrenia and rheumatoid arthritis: a review. Schiz Research 1992; 6: 181-192.
15. Wright P, Murray RM. Prenatal influenza, immunogenes, and schizophrenia: a hypothesis and some recent findings. In: Waddington JL, Buckley PF (eds). The Neurodevelopmental Basis of Schizophrenia. RG Landes: Austin, Texas, 1996, pp 43-59.
16. Wright P, Takei N, Rifkin L, Murray RM. Maternal influenza, obstetric complications and schizophrenia. Am J Psychiatry 1995; 152: 1714-1720.
17. Laing P, Knight J, Wright P, Irving W. Disruption of fetal brain development by maternal antibodies as an etiological factor in schizophrenia. In: Mednick SA. Hollister JM (eds). Neural Development and Schizophrenia: Theory and Research. Plenum: New York, 1995, pp 215-245.
18. Wright P, Murray RM. Schizophrenia: prenatal influenza and autoimmunity. Ann Med 1993; 25: 497-502.
19. Erlenmeyer-Kimling L, Comblatt BA, Rock D, Roberts S, Bell M, West A. The New York High-Risk Project: anhedonia, attentional deviance, and psychopathology. Schiz Bull 1993; 19: 141-153.
20. Done DJ, Crow TJ, Johnstone EC, Sacker A. Childhood antecedents of schizophrenia and affective illness: social adjustment at ages 7 and 11. Br Med J 1994; 309: 699-703.
21. Jones P, Rodgers B, Murray R, Marmot M. Child development risk factors for adult schizophrenia in the British 1946 birth cohort. Lancet 1994; 344: 1398-1402.
22. Gualtieri CT, Adams A, Shen CD, Loiselle D. Minor physical anomalies in alcoholic and schizophrenic adults and hyperactive and autistic children. Am J Psychiatry 1982; 139: 640-643.
23. Guy JD, Majorski MV, Wallace CJ, Guy MP. The incidence of minor physical anomalies in adult male schizophrenics. Schiz Bull 1983; 9: 571-582.
24. Green MF, Satz P, Gaier DJ, Ganzell S, Kharabi F. Minor physical anomalies in schizophrenia. Schiz Bull 1989; 15: 91-99.
25. Lane A, Cassidy B, Murphy P, Sheppard N, Horgan R, Keenan J, Waddington JL, Larkin C, O'Callaghan E. Minor physical anomalies in schizophrenia. Irish J Med Sci 1993; 162: 27-28.
26. Gottesman II. Schizophrenia Genesis. WH Freeman and Company, New York, 1991.
27. Gottesman II, Shields J. A polygenic theory of schizophrenia. Proc Natl Acad Sci USA 1967; 58: 199-205.
28. Gottesman II, Shields J. Schizophrenia: The Epigenetic Puzzle. Cambridge University Press: Cambridge, UK, 1982.
29. Kendler KS, McGuire M, Gruenberg AM, O'Hare A, Spellman M, Walsh D. The Roscommon Family Study. I. Methods, diagnosis of probands, and risk of schizophrenia in relatives. Arch Gen Psychiatry 1993; 50: 527-540.
30. Murray RM, Reveley AM, McGuffln P. Genetic vulnerability to schizophrenia. Psychiatr Clin North Am 1986; 9: 3-16.
31. Risch N, Baron M. Segregation analysis of schizophrenia and related disorders. Ann J Hum Genet 1984; 36: 1039-1059.
32. Kendlers KS, Diehl SR. The genetics of schizophrenia: a current, genetic-epidemiologic perspective. Schiz Bull 1993; 19: 261-285.
33. Kendlers KS, Masterson CC, Ungaro R, Davis KL. A family history study of schizophrenia-related personality disorders. Am J Psychiatry 1984; 141: 424-427.
34. Kendler KS, Neale MC, Walsh D. Evaluating the spectrum concept of schizophrenia in the Roscommon Family Study. Am J Psychiatry 1995; 152: 749-754.
35. Farmer AE, McGuffin P, Gottesman II. Twin concordance for DSM-III schizophrenia: scrutinising the validity of the definition. Arch Gen Psychiatry 1987; 44: 634-641.
36. Kendler KS, McGuire M, Gruenberg AM, O'Hare A, Spellman M, Walsh D. The Roscommon Family Study. III. Schizophrenia-related personality disorders in relatives. Arch Gen Psychiatry 1993; 50: 781-788.
37. Taylor MA. Are schizophrenia and affective disorder related? A selective literature review. Am J Psychiatry 1992; 149: 22-32.
38. Cloninger CR. Tests of alternative models of the relationship of schizophrenic and affective psychoses. In: Gershon ES, Cloninger CR (eds). Genetic Approaches To Mental Disorders. American Psychiatric Press: Washington, DC, 1994, pp 149-162.
39. Crow TJ. The demise of the Kraepelinian binary system as a prelude to genetic advance. In: Gershon ES, Cloninger CR (eds). Genetic Approaches To Mental Disorders. American Psychiatric Press: Washington, DC, 1994, pp 163-192.
40. Tsuang MT, Faraone SV. The case for heterogeneity in the etiology of schizophrenia. Schiz Research 1995; 17: 161-175.
41. Risch NJ. Mapping genes for psychiatric disorders. In: Gershon ES, Cloninger CR (eds). Genetic Approaches To Mental Disorders. American Psychiatric Press: Washington, DC, 1994, pp 47-61.
42. Suarez BK, Hampe CL, Van Eerdewegh P. Problems of replicating linkage claims in psychiatry. In: Gershon ES, Cloninger CR (eds). Genetic Approaches To Mental Disorders. American Psychiatric Press: 1994, pp 23-46.
43. Cloninger CR. Turning point in the design of linkage studies of schizophrenia. Am J Med Genet 1994; 54: 83-92.
44. Shah S, Green JR. Disease susceptibility genes and the sib-pair method: a review of recent methodology. Ann Hum Genet 1994; 58: 381-395.
45. Curtis D, Sham PC. Using risk calculation to implement an extended relative pair analysis. Ann Hum Genet 1994; 58: 151-162.
46. Davies JL, Kawaguchi Y, Bennett ST, Copeman JB, Cordell HJ, Pritchard LE, Reed PW, Gough SCL, Jenkins SC, Palmer SM, Balfour KM, Rowe BR, Farrall M, Barnett AH, Bain SC, Todd JA. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 1994; 371: 130-136.
47. Pulver AE, Karayiorgou M, Wolyniec PS, Lasseter VK, Kasch L, Nestadt G, Antonarakis S, Housman D, Kazazian HH, Meyers D, Ott J, Lamacz M, Liang K-Y, Hanfelt J, Ullrich G, DeMarchi N, Ramu E, McHugh PR, Adler L, Thomas M, Carpenter WT, Manschreck T, Gordon CT, Kimberland M, Babb R, Puck J, Childs B. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. Am J Med Genet 1994; 54: 36-43.
48. Karayiorgou M, Kasch L, Lasseter VK, Hwang J, Elango R, Bernardini DJ, Kimberland M, Babb R, Francomano CA, Wolyniec PS, Lamacz M, Nestadt G, Meyers D, Ott J, Childs B, Antonarakis S, Kazazian HH, Housman DE, Pulver AE. Report from the Maryland Epidemiology Schizophrenia Linkage Study: no evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model. Am J Med Genet 1994; 54: 345-353.
49. Coon H, Jensen S, Holik J, Hoff M, Myles-Worsley M, Reimherr F, Wender P, Waldo M, Freedman R, Leppert M, Byerley W. Genomic scan for genes predisposing to schizophrenia. Am J Med Genet 1994; 54: 59-71.
50. Coon H, Holik J, Hoff M, Reimherr F, Wender P, Myles-Worsley M, Waldo M, Freedman R, Byerley W. Analysis of chromosome 22 markers in nine schizophrenia pedigrees. Am J Med Genet 1994; 54: 72-79.
51. Barr CL, Kennedy JL, Pakstis AJ, Wetterberg L, Sjogren B, Bierut L, Wadelius C, Wahlstrom J, Martinsson T, Giuffra L, Gelernter J, Hallmayer J, Moises HW, Kurth J, Cavalli-Sforza LL, Kidd KK. Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred. Am J Med Genet 1994; 54: 51-58.
52. Moises HW, Yang L, Kristbjarnarson H, Wiese C, Byerley W, Macciardi F, Arolt V, Blackwood D, Liu X, Sjogren B, Aschauer HN, Hwu H-G, Jang K, Livesley WJ, Kennedy JL, Zoega T, Ivarsson O, Bui M-T, Yu M-H, Havsteen B, Commenges D, Weissenbach J, Schwinger E, Gottesman II, Pakstis AJ, Wetterberg L, Kidd KK, Helgason T. An international two-stage genome-wide search for schizophrenia susceptibility genes. Nature Genet 1995; 11: 321-325.
53. Pulver AE, Karayiorgou M, Lasseter VK, Wolyniec P, Kasch L, Antonarakis S, Housman D, Kazazian HH, Meyers D, Nestadt G, Ott J, Liang K-Y, Lamacz M, Thomas M, Childs B, Diehl SR, Wang S, Murphy B, Sun C, O'Neill FA, Nie L, Sham P, Burke J, Duke BW, Duke F, Kipps BR, Bray J, Hunt W, Shinkwin R, Nuallain MN, Su Y, MacLean CJ, Walsh D, Kendler KS, Gill M, Vallada H, Mant R, Asherson P, Collier D, Parfitt E, Roberts E, Nanko S, Walsh C, Daniels J, Murray R, McGuffin P, Owen M, Laurent C, Dumas J-B, d'Amato T, Jay M, Martinez M, Campion D, Mallet J. Follow-up of a report of a potential linkage for schizophrenia on chromosome 22q12-q13.1: Part 2. Am J Med Genet 1994; 54: 44-50.
54. Lasseter VK, Pulver AE, Wolyniec PS, Nestadt G, Meyers D, Karayiorgou M, Housman D, Antonarakis S, Kazazian H, Kasch L, Babb R, Kimberland M, Childs B. Follow-up report of potential linkage for schizophrenia on chromosome 22q: Part 3. Am J Med Genet 1995; 60: 172-173.
55. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nature Genet 1995; 11: 241-247.
56. Vallada HP, Gill M, Sham P, Lim LC, Nanko S, Asherson P, Murray RM, McGuffin P, Owen M, Collier D. Linkage studies on chromosome 22 in familial schizophrenia. Am J Med Genet 1995; 60: 139-146.
57. Polymeropoulos MH, Coon H, Byerley W, Gershon ES, Goldin L, Crow TJ, Rubenstein J, Hoff M, Holik J, Smith AM, Shields G, Bass NJ, Poulter M, Lofthouse R, Vita A, Morganti C, Merril CR, Delisi LE. Search for a schizophrenia susceptibility locus on human chromosome 22. Am J Med Genet 1994; 54: 93-99.
58. Moises HW, Yang L, Li T, Havsteen B, Fimmers R, Baur MP, Liu X, Gottesman II. Potential linkage disequilibrium between schizophrenia and locus D22S278 on the long arm of chromosome 22. Am J Med Genet 1995; 60: 465-467.
59. Schizophrenia Collaborative Linkage Group (Chromosome 22). A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Am J Med Genet 1996; 67: 40-45.
60. Schwab SG, Lerer B, Albus M, Maier W, Hallmayer J, Fimmers R, Lichtermann D, Minges J, Bondy B, Ackenheil M, Altmark D, Hasib D, Gur E, Ebstein RP, Wildenauer DB. Potential linkage for schizophrenia on chromosome 22q12-q13: a replication study. Am J Med Genet 1995; 60: 436-443.
61. Vallada H, Curtis D, Sham PC, Murray RM, McGuffin P, Nanko S, Gill M, Owen M, Collier DA. Chromosome 22 markers demonstrate transmission disequilibrium with schizophrenia. Psych Genet 1995; 5: 127-130.
62. Pulver AE, Lasseter VK, Kasch L, Wolyniec P, Nestadt G, Blouin J-L, Kimberland M, Babb R, Vourlis S, Chen H, Lalioti M, Morris MA, Karayiorgou M, Ott J, Meyers D, Antonarakis SE, Housman D, Kazazian HH. Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes. Am J Med Genet 1995; 60: 252-260.
63. Dombroski BA, Ton CC, Lasseter VK, Snyder SE, Wolyniec P, Nestadt G, Antonarakis SE, Blouin J-L, Curran M, Loetscher E, Karayiorgou M, Luebbert H, Housman D, Kazazian HH, Pulver AE. Narrowing of a susceptibility region for schizophrenia on chromosome 8p21-p22 to within 4Mb. Am J Hum Genet 1996; 59: A216.
64. Schizophrenia Collaborative Linkage Group for Chromosomes 3, 6 and 8. Additional support for schizophrenia linkage findings on chromosomes 6 and 8: a multicenter study. Am J Med Genet 1996; 67: 580-594.
65. Kendler KS, MacLean CJ, O'Neill FA, Burke J, Murphy B, Duke F, Shinkwin R, Easter SM, Webb BT, Zhang J, Walsh D, Straub RE. Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish study of High-Density schizophrenia families. Am J Psychiatry 1996; 153: 1534-1540.
66. Dobyns WB. Absence makes the search grow longer. Am J Hum Genet 1996; 58: 7-16.
67. Swayze VW, Andreasen NC, Ehrhardt JC, Yuh WTC, Alliger RJ, Cohen GA. Developmental abnormalities of the corpus callosum in schizophrenia. Arch Neurol 1990; 47: 805-808.
68. Wang S, Sun CE, Walczak CA, Ziegle JS, Kipps BR, Gol din LR, Diehl SR. Evidence for a susceptibility locus for schizophrenia on chromosome 6pter-p22. Nature Genet 1995; 10: 41-46.
69. Straub RE, MacLean CJ, O'Neill FA, Burke J, Murphy B, Duke F, Shinkwin R, Webb BT, Zhang J, Walsh D, Kendler KS. A potential vulnerability locus for schizophrenia on chromosome 6p24-22: evidence for genetic heterogeneity. Nature Genet 1995; 11: 287-293.
70. Schwab SG, Albus M, Hallmayer J, Honig S, Borrmann M, Lichtermann D, Ebstein R, Ackenheil M, Lerer B, Risch N, Maier W, Wildenauer D. Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by multipoint affected sib-pair linkage analysis. Nature Genet 1995; 11: 325-327.
71. Gurling H, Kalsi G, Chen AH-S, Green M, Butler R, Read T, Murphy P, Curtis D, Sharma T, Petursson H, Brynjolfsson J. Schizophrenia susceptibility and chromosome 6p24-22 [Letter]. Nature Genet 1995; 11: 234-235.
72. Antonarakis SE, Blouin J-L, Pulver AE, Wolyniec PS, Lasseter VK, Nestadt G, Kasch L, Babb R, Kazazian HH, Dombroski B, Kimberland M, Ott J, Housman D, Karayiorgou M, MacLean CJ. Schizophrenia susceptibility and chromosome 6p24-22. [Letter]. Nature Genet 1995; 11: 235-236.
73. Kendler KS, Straub RE, MacLean CJ, Walsh D. Reflections on the evidence for a vulnerability locus for schizophrenia on chromosome 6p24-22. Am J Med Genet 1996; 67: 124-126.
74. Straub RE, MacLean CJ, Kendler KS. The putative schizophrenia locus on chromosome 6p: a brief overview of the linkage studies. Mol Psychiatry 1996; 1: 89-92.
75. Lin MW, Curtis D, Williams N, Arranz M, Nanko S, Collier D, McGuffin P, Murray R, Owen M, Gill M, Powell J. Suggestive evidence for linkage of schizophrenia to markers on chromosome 13q14.1-q32. Psych Genet 1995; 5: 117-126.
76. Antonarakis SE, Blouin J-L, Curran M, Luebbert H, Kazazian HH, Dombroski B, Housman D, Ton C, Karayiorgou M, Chakravarti A, Wolyniec P, Lasseter VK, Nestadt G, Pulver AE. Linkage and sib-pair analysis reveal a potential schizophrenia susceptibility gene on chromosome 13q32. Am J Hum Genet 1996; 59: A210.
77. Straub RE, MacLean CJ, O'Neill FA, Walsh D, Kendler KS. Support for a possible schizophrenia vulnerability locus in region 5q21-q31 in Irish families. Mol Psychiatry 1997; 2: 148-155.
78. Schwab SG, Eckstein GN, Hallmayer J, Lerer B, Albus M, Borrmann M, Lichtermann D, Ertl MA, Maier W, Wildenauer DB. Evidence suggestive of a locus on chromosome 5q31 contributing to susceptibility for schizophrenia in German and Israeli families by multipoint affected sib-pair linkage analysis. Mol Psychiatry 1997; 2: 156-160.
79. Wildenauer DB, Hallmayer J, Schwab SG, Albus M, Eckstein GN, Zill P, Honig S, Strauss M, Borrmann M, Lichtermann D, Epstein RP, Lerer B, Risch N, Maier W. Searching for susceptibility genes in schizophrenia by genetic linkage analysis. Cold Spring Harbor Symposia on Quantitative Biology, Vol LXI, CSHL Press: Cold Spring Harbor, NY, 1996, pp 845-850.
80. Marquet S, Abel L, Hillaire D, Dessein H, Kalil J, Feingold J, Weissenbach J, Dessein AJ. Genetic localization of a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31-q33. Nature Genet 1996; 14: 181-184.
81. Sherrington R, Brynjolfsson J, Petursson H, Potter M, Dudleston K, Barraclough B, Wasmuth J, Dobbs M, Gur ling H. Localization of a susceptibility locus for schizophrenia on chromosome 5. Nature 1988; 336: 164-167.
82. McGuffin P, Sargeant M, Hetti G, Tidmarsh S, Whatley S, Marchbanks RM. Exclusion of a schizophrenia susceptibility gene from the chromosome 5q11-q13 region: new data and a reanalysis of previous reports. Am J Hum Genet 1990; 47: 524-535.
83. Silverman JM, Greenberg DA, Altstiel LD, Siever LJ, Mohs RC, Smith CJ, Zhou G, Hollander TE, Yang X-P, Kedache M, Li G, Zaccario ML, Davis KL. Evidence of a locus for schizophrenia and related disorders on the short arm of chromosome 5 in a large pedigree. Am J Med Genet 1996; 67: 162-171.
84. Crow TJ. Sex chromosomes and psychosis. The case for a pseudoautosomal locus. Br J Psychiatry 1988; 153: 675-683.
85. Collinge J, Delisi LE, Boccio E, Johnstone EC, Lane A, Larkin C, Leach M, Lofthouse R, Owen F, Poulter M, Shah T, Walsh C, Crow TJ. Evidence for a pseudoautosomal locus for schizophrenia using the methods of affected sibling pairs. Br J Psychiatry 1991; 158: 624-629.
86. Asherson P, Parfitt E, Sargeant M, Tidmarsh S, Buckland P, Taylor C, Clements A, Gill M, McGuffin P, Owen M. No evidence for a pseudoautosomal locus for schizophrenia. Linkage analysis of multiply affected families. Br J Psychiatry 1992; 161: 163-168.
87. Wang ZW, Black D, Andreasen N, Crowe RR. Pseudoautosomal locus for schizophrenia excluded in 12 pedigrees. Arch Gen Psychiatry 1993; 50: 199-204.
88. Barr CL, Kennedy JL, Pakstis AJ, Castiglione CM, Kidd JR, Wetterberg L, Kidd KK. Linkage study of a susceptibility locus for schizophrenia in the pseudoautosomal region. Schiz Bull 1994; 20: 277-286.
89. Maier W, Schmidt F, Schwab SG, Hallmayer J, Minges J, Ackenheil M, Lichtermann D, Wildenauer DB. Lack of linkage between schizophrenia and markers at the telomeric end of the pseudoautosomal region of the sex chromosomes. Biol Psychiatry 1995; 37: 344-347.
90. Kalsi G, Curtis D, Brynjolfsson J, Butler R, Sharma T, Murphy P, Read T, Petursson H, Gurling HM. Investigation by linkage analysis of the XY pseudoautosomal region in the genetic susceptibility to schizophrenia. Br J Psychiatry 1995; 167: 390-393.
91. Terwilliger J, Ott J. A haplotype-based 'haplotype relative risk' approach to detecting allelic associations. Hum Hered 1992; 42: 337-346.
92. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993; 52: 506-516.
93. Nimgaonkar VL, Zhang XR, Caldwell JG, Ganguli R, Chakravarti A. Association study of schizophrenia with dopamine D3 receptor gene polymorphisms: probable effects of family history of schizophrenia? Am J Med Genet 1993; 48: 214-217.
94. Jonsson E, Lannfelt L, Sokoloff P, Schwartz JC, Sedvall G. Lack of association between schizophrenia and alleles at the D3 receptor gene. Acta Psychiatr Scand 1993; 87: 345-349.
95. Mant R, Williams J, Asherson P, Parfltt E, McGuffin P, Owen MJ. Relationship between homozygosity at the dopamine D3 receptor gene and schizophrenia. Am J Med Genet 1994; 54: 21-26.
96. Karayiorgou M, Gogos JA, Galke BL, Wolyniec PS, Nestadt G, Antonarakis SE, Kazazian HH, Housman DE, Pulver AE. Identification of sequence variants and analy sis of the role of the COMT gene in schizophrenia susceptibility. Biol Psychiatry 1997; (in press).
97. Crocq MA, Mant R, Asherson P, Williams J, Mode Y, Mayerova A, Collier D, Lannfelt L, Sokoloff P, Schwartz J-C, Gill M, Macher J-P, McGuffm P, Owen MJ. Association between schizophrenia and homozygosity at the dopamine D3 receptor gene. J Med Genet 1992; 29: 858-860.
98. Shaikh S, Collier DA, Sham PC, Ball D, Aitchison K, Vallada H, Smith I, Gill M, Kerwin RW. Allelic association between a Ser-9-Gly polymorphism in the dopamine D3 receptor gene and schizophrenia. Hum Genet 1996; 97: 714-719.
99. Karayiorgou M, Gogos JA, Galke BL, Jeffery JA, Nestadt G, Wolyniec PS, Antonarakis SE, Kazazian HH, Housman DE, Driscoll DA, Pulver AE. Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus. Cold Spring Harbor Symposia on Quantitative Biology, Vol LXI. CSHL Press: Cold Spring Harbor, NY, 1996, pp 835-843.
100. Li T, Sham PC, Vallada H, Xie T, Tang X, Murray RM, Liu X, Collier DA. Preferential transmission of the high activity allele of COMT in schizophrenia. Psych Genet 1996; 6: 131-133.
101. Wei J, Ramchand CN, Hemmings GP. Association of polymorphic VNTR region in the first intron of the human TH gene with disturbances of the catecholamine pathway in schizophrenia. Psych Genet 1995; 5: 83-88.
102. Arranz M, Collier D, Sodhi M, Ball D, Roberts G, Price J, Sham P, Kerwin R. Association between clozapine response and allelic variation in 5-HT2A receptor gene. Lancet 1995; 346: 281-282.
103. Inayama Y, Yoneda H, Sakai T, Ishida T, Nonomura Y, Kono Y, Takahata R, Koh J, Sakai J, Takai A, Inada Y, Asaba H. Positive association between a DNA sequence variant in the serotonin 2A receptor gene and schizophrenia. Am J Med Genet 1996; 67: 103-105.
104. Williams J, Spurlock G, McGuffin P, Mallet J, Nothen MM, Gill M, Aschauer H, Nylander PO, Macciardi F, Owen MJ. Association between schizophrenia and T102C polymorphism of the 5-hydroxytryptamine type 2a-receptor gene. European Multicentre Association Study of Schizophrenia (EMASS) Group. Lancet 1996; 347: 1294-1296.
105. Wright P, Donaldson PT, Underhill JA, Choudhuri K, Doherty DG, Murray RM. Genetic association of the HLA DRB1 gene locus on chromosome 5p21.3 with schizophrenia. Am J Psychiatry 1996; 153: 1530-1533.
106. Nimgaonkar VL, Rudert WA, Zhang XR, Tsoi WF, Trucco M, Saha N. Further evidence for an association between schizophrenia and the HLA DQB1 gene locus. Schiz Res 1995; 18: 43-49.
107. Nimgaonkar VL, Ganguli R, Rudert WA, Vavassori C, Rabin BS, Trucco M. A negative association of schizophrenia with an allele of the HLA DQB1 gene among African-Americans. Schiz Res 1993; 8: 199-209.
108. Nanko S, Hattori M, Kuwata S, Sasaki T, Fukuda R, Dai XY, Yamaguchi K, Shibata Y, Kazamatsuri H. Neurotrophin-3 gene polymorphism associated with schizophrenia. Acta Psychiatr Scand 1994; 89: 390-392.
109. Dawson E, Powell JF, Sham PC, Nothen M, Crocq MA, Propping P, Korner J, Rietschel M, Vanos J, Wright P, Murray RM, Gill M. An association study of a neurotrophin-3 (NT-3) gene polymorphism with schizophrenia. Acta Psychiatr Scand 1995; 92: 425.
110. Risch N, Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516-1517.
111. Chee M, Yang R, Hubbell E, Berno A, Huang XC, Stern D, Winkler J, Lockhart DJ, Morris MS, Fodor SPA. Accessing genetic information with high-density DNA arrays. Science 1996; 274: 610-614.
112. Bassett AS. Chromosomal aberrations and schizophrenia. Autosomes. Br J Psychiatry 1992; 161: 323-334.
113. Gordon CT, Krasnewich D, White B, Lunane M, Rapoport JL. Translocation involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia. J Autism & Develop Dis 1994; 24: 537.
114. Maziade M, Debraekeleer M, Genest P, Cliche D, Fournier JP, Garnoau Y, Shriqui C, Roy MA, Nicole L. Raymond V et al. A balanced 2 : 18 translocation and familial schizophrenia: falling short of an association. Arch Gen Psychiatry 1993; 50: 73-75.
115. Holland T, Gosden C. A balanced chromosomal translocation partially co-segregating with psychotic illness in a family. Psych Res 1990; 32: 1.
116. Palmour RM, Miller S, Fielding A, Vekemans M, Ervin FR. A contribution to the differential diagnosis of the 'group of schizophrenias': structural abnormality of chromosome 4. J Psychiatry & Neumsci 1994; 19: 270-277.
117. Nanko S, Kunugi H, Sasaki T, Fukuda R, Kawatu T, Kazamatsuri H. Pericentric region of chromosome 9 is a possible candidate region for linkage study of schizophrenia. Biol Psychiatry 1993; 33: 655-658.
118. Malaspina D, Warburton D, Amador X, Harris M, Kaufmann CA. Association of schizophrenia and partial trisomy of chromosome 5p. A case report. Schiz Res 1992; 7: 191-196.
119. Rios R, Sole F, Montes C, Vicente A, Perez MM, Valle M, Gascon F. A new case of trisomy 5 as sole cytogenetic anomaly in acute myeloid leukemia. Cancer Genet & Cytogenet 1995; 84: 120-122.
120. Ong SH, Robertson JR. Schizophrenia with karyotype mosaic 47,XXY/48.XXY+8. Psych Genet 1995; 5: 67-69.
121. Garofalo G, Ragusa RM, Argiolas A, Scavuzzo C, Spina E, Barletta C. Evidence of chromosomal fragile sites in schizophrenic patients. Annales de Genetique 1993; 36: 132.
122. Park JP, Moeschler JB, Berg SZ, Wurster-Hill DH. Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1). J Med Genet 1991; 28: 282-283.
123. Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, Eisen H, Childs B, Kazazian HH, Kucherlapati R, Antonarakis SE, Pulver AE, Housman DE. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci USA 1995; 92: 7612-7616.
124. Delisi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow TJ. Schizophrenia and sex chromosome anomalies. Schiz Bull 1994; 20: 495-505.
125. Bassett AS, McGillivray BC, Jones BD, Pantzar JT. Partial trisomy chromosome 5 cosegregating with schizophrenia. Lancet 1988; 1: 799-801.
126. St Clair D, Blackwood D, Muir W, Carothers A, Walker M, Spowart G, Gosden C, Evans HJ. Association within a family of a balanced autosomal translocation with major mental illness. Lancet 1990; 336: 13-16.
127. Angrist M, Bolk S, Halushka M, Lapchak PA, Chakravarti A. Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient. Nature Genet 1996; 14: 341-344.
128. Salomon R, Attie T, Pelet A, Bidaud C, Eng C, Amiel J, Sarnacki S, Goulet O, Ricour C, Nihoul-Fekete C, Mun nich A, Lyonnet S. Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease. Nature Genet 1996; 14: 345-347.
129. Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet 1993; 30: 813-817.
130. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D, Kucherlapati R. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 1994; 182: 476-478.
131. Jacobsen LK, Van WL, Guan XY, Krasnewich D, Kumra S, Long RT, Sidransky E, Ginns EI, Rapoport JL. Interstitial deletions of chromosome 22q11 in very early onset schizophrenia. Am J Hum Genet 1996: 59: A120.
132. Siegel-Bartelt J, Arnold P, Cytrynbaum G. Teshima I, Schachar R. Microdeletion 22q11.2: behavioral phenotype. Am J Hum Genet 1996; 59: A104.
133. Papolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherlapati R, Shprintzen RJ. 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.
134. Flint J, Wilkie AOM, Buckle VJ, Winter RM, Holland AJ, McDermid HE. The detection of subtelomerk: chromosomal rearrangements in idiopathic mental retardation. Nature Genet 1995; 9: 132-139.
135. Beatty B, Squires J, Weksberg R, Chow E, Hodgkinson K, Bomba M, Chen M, Bassett A. Velocardiofacial syndrome and schizophrenia. Am J Hum Genet 1996; 59: A87.
136. Romano J, Linares RL. Marfan's syndrome and schizophrenia: a case report. Arch Gen Psychiatry 1987; 44: 190-192.
137. Melissari M, Giordano G, Crafa P, Martella EM, Ricci R. Mitral valve prolapse in a case of Marfan syndrome with congenital cardiac disease, chronic obstructive pulmonary disease and schizophrenia. Pathologica 1995; 87: 78-81.
138. Sirota P, Frydman M, Sirota L. Schizophrenia and Marfan syndrome. Br J Psychiatry 1990; 157: 433-436.
139. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar E, Curristin S, Stellen G, Meyers DA, Francomano CA. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 1991; 352: 337-339.
140. Kalsi G, Mankoo BS, Brynjolfsson J, Curtis D, Read T, Murphy P, Sharma T, Petursson H, Gurling HM. The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia. Psychiatr Genet 1994; 4: 219-227.
141. Nimgaonkar VL, Scott JA, Brar JS, Ganguli R, Ghakravarti A. Co-occurrence of schizophrenia and Treacher Collins syndrome. Am J Med Genet 1993; 48: 156-158.
142. The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet 1996; 12: 130-136.
143. Bartolucci G, Younger J. Tentative classification of neuropsychiatric disturbances in Prader-Willi syndrome. J Intellect Disabil Res 1994; 38: 621-629.
144. Ewald H, Mors O, Flint T, Kruse TA. Linkage analysis between manic-depressive illness and the region on chromosome 15q involved in Prader-Willi syndrome including two GABAA receptor subtype genes. Hum Hered 1994; 44: 287-294.
145. Swift RG, Sadler DB, Swift M. Psychiatric findings in Wolfram syndrome homozygotes. Lancet 1990; 336: 667-669.
146. Swift RG, Perkins DO, Chase CL, Sadler DB, Swift M. Psychiatric disorders in 36 Wolfram syndrome families. Am J Psychiatry 1991; 148: 775-779.
147. Polymeropoulos MH, Swift RG, Swift M. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4. Nature Genet 1994; 8: 95-97.
148. Bassett AS, Honer WG. Evidence for anticipation in schizophrenia. Am J Hum Genet 1994; 54: 864-870.
149. Petronis A, Sherrington RP, Paterson AD, Kennedy JL. Genetic anticipation in schizophrenia: pro and con. Clin Neurosci 1995; 3: 76-80.
150. Carpenter NJ. Genetic anticipation. Expanding tandem repeats. Neurol Clin 1994; 12: 683-697.
151. Sasaki T, Billett E, Petronis A, Ying D, Parsons T, Macciardi FM, Meltzer HY, Lieberman J, Joffe RT, Ross CA, McInnis MG, Li SH, Kennedy JL. Psychosis and genes with trinucleotide repeat polymorphism. Hum Genet 1996; 97: 244-246.
152. Morris AG, Gaitonde E, McKenna PJ, Mollon JD, Hunt DM. CAG repeat expansions and schizophrenia: association with disease in females and with early age-at-onset. Hum Mol Genet 1995; 4: 1957-1961.
153. O'Donovan MC, Guy C, Craddock N, Murphy KC, Cardno AG, Jones LA, Owen MJ, McGuffln P. Expanded CAG repeats in schizophrenia and bipolar disorder. Nature Genet 1995; 10: 380-381.
154. Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa N, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet 1996; 14: 277-284.
155. Holzman PS, Proctor LR, Levy DL. Eye tracking dysfunction in schizophrenic patients and their relatives. Arch Gen Psychiatry 1974; 31: 143-151.
156. Holzman PS, Kringlen E, Matthysse S, Flanagan SD, Lipton RB, Cramer G, Levin S, Lange K, Levy DL. A single dominant gene can account for eye tracking dysfunctions and schizophrenia in offspring of discordant twins. Arch Gen Psychiatry 1988; 45: 641-647.
157. Pogue-Geile MF, Garrett AH, Brunke JJ, Hall JK. Neuropsychological impairments are increased in siblings of schizophrenic patients. Schiz Res 1991; 4: 390.
158. Blackwood DHR, Muir WJ. Cognitive brain potentials and their applications. Br J Psychiatry 1990; 157: 96-99.
159. Adler LE, Pachtman E, Franks RD, Pecevich M, Waldo MC, Freedman R. Neurophysiological evidence for a defect in neuronal mechanisms involved in sensory gating in schizophrenia. Biol Psychiatry 1982; 17: 639-654.
160. Judd LL, McAdams L, Budnick B, Braff DL. Sensory gating deficits in schizophrenia: new results. Am J Psychiatry 1992; 149: 488-493.
161. Freedman R, Coon H, Myles-Worsley M, Orr-Urtreger A, Olincy A, Davis A, Polymeropoulos M, Holik J, Hopkins J, Hoff M, Rosenthal J, Waldo MC, Reimherr F, Wender P, Yaw J, Young DA, Breese CR, Adams C, Patterson D, Adler LE, Kruglyak L, Leonard S, Byerley W. Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA 1997; 94: 587-592.