Genetics of psychiatric disease

Annual Review of Medicine

Volumn 51, Issue , 2000, Pages 465-479

  Berrettini, Wade H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Bipolar disorder; Linkage; Schizophrenia; Susceptibility locus

Indexed keywords

CHROMOSOME 12Q; CHROMOSOME 13Q; CHROMOSOME 18P; CHROMOSOME 21Q; CHROMOSOME 22Q; CHROMOSOME 4P; CHROMOSOME 6P; CHROMOSOME 8P; CHROMOSOME XQ; GENE LOCUS; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; MANIC DEPRESSIVE PSYCHOSIS; PRIORITY JOURNAL; REVIEW; RISK; SCHIZOIDISM; SCHIZOPHRENIA;

BIPOLAR DISORDER; HUMANS; LINKAGE (GENETICS);

EID: 0034007450     PISSN: 00664219     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.med.51.1.465     Document Type: Review

References (104)

1. 1. Nurnberger JI Jr, Berrettini WH. 1998. Psychiatric Genetics. London: Chapman & Hall
2. 2. Clerget-Darpoux F, Bonaiti-Pellie C, Hochez J. 1986. Effects of misspecifying genetic parameters in lod score analysis. Biometrics 42:245-53
3. 3. Lander E, Kruglyak L. 1995. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat. Gen. 11:241-47
4. 4. Weeks DE, Lange K. 1988. The affected-pedigree-member method of linkage analysis. Am. J. Hum. Genet. 42:315-26
5. 5. Weeks DE, Lange K. 1992. A multilocus extension of the affected-pedigree-member method of linkage analysis. Am. J. Hum. Genet. 50:859-68
6. 6. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. 1996. Parametric and non-parametric linkage analysis: a unified multipoint approach. Am. J. Hum. Genet. 58:347-63
7. 7. Lander E, Schork N. 1994. Genetic dissection of complex traits. Science 265:2037-48
8. 8. Hauser ER, Boehnke M. 1997. Confirmation of linkage results in affected sibpair linkage analysis for complex genetic traits. Am. J. Hum. Genet. 61 (Suppl.):A278
9. 9. Risch N. 1990. Linkage strategies for genetically complex traits. II. The power of affected relative pairs. Am. J. Hum. Genet. 46:229-41
10. 10. Gershon ES, Hamovit J, Guroff JJ, et al. 1982. A family study of schizoaffective, bipolar I, bipolar II, unipolar, and normal control probands. Arch. Gen. Psychiatry 39:1157-67
11. 11. Davies JL, Kawaguchi Y, Bennett ST, et al. 1994. A genome-wide search for human type 1 diabetes susceptibility genes. Nature 371:130-36
12. 12. Corder EH, Saunders AM, Strittmatter WJ, et al. 1993. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 261:921-23
13. 13. Mayeux R, Stern Y, Ottman R, et al. 1993. The apolipoprotein E4 allele in patients with Alzheimer's disease. Ann. Neurol. 34:752-54
14. 14. Tsai M-S, Tangalos EG, Petersen RC, et al. 1994. Apolipoprotein E: risk factor for Alzheimer disease. Am. J. Hum. Genet. 54:643-49
15. 15. Egeland JA, Gerhard DS, Pauls DL, et al. 1987. Bipolar affective disorder linked to DNA markers on chromosome 11. Nature 325:783-87
16. 16. Detera-Wadleigh SD, Hsieh W-T, Berrettini WH, et al. 1994. Genetic linkage mapping for a susceptibility locus to bipolar illness: chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter. Neuropsychiatr. Genet. 54:206-18
17. 17. Mitchell P, Waters B, Morrison N, et al. 1991. Close linkage of bipolar disorder to chromosome 11 markers is excluded in two large Australian pedigrees. J. Aff. Disord. 20:23-32
18. 18. Hodgkinson S, Sherrington R, Gurling H, et al. 1987. Molecular genetic evidence for heterogeneity in manic-depression. Nature 325:805-6
19. 19. Mendlewicz J, Leboyer M, De Bruyn A, et al. 1991. Absence of linkage between chromosome 11p15 markers and manic-depressive illness in a Belgian pedigree. Am. J. Psychiatry 148:1683-87
20. 20. Curtis D, Sherrington R, Brett P, et al. 1993. Genetic linkage analysis of manic-depression in Iceland. J.R. Soc. Med. 86:506-10
21. 21. Gill M, McKeon P, Humphries P. 1988. Linkage analysis of manic-depression in an Irish family using H-ras 1 and INS DNA markers. J. Med. Genet. 25:634-35
22. 22. Coon H, Jensen S, Hoff M, et al. 1993. A genome-wide search for genes predisposing to manic-depression assuming autosomal dominant inheritance. Am. J. Hum. Genet. 52:619-34
23. 23. Stine C, McMahon F, Chen L, 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. 74:263-69
24. 24. Kelsoe J, Ginns E, Egeland J, et al. 1989. Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature 342:238-43
25. 25. Winokur G, Clayton PJ, Reich T. 1969. Manic-Depressive Illness, pp. 112-25. St. Louis, MO: Mosby
26. 26. Mendlewicz J, Fleiss JL. 1974. Linkage studies with X-chromosome markers in bipolar (manic-depressive) and unipolar (depressive) illnesses. Biol. Psychiatry 9:261-94
27. 27. Baron M. 1977. Linkage between an X-chromosome marker (deutan color blindness) and bipolar affective illness. Arch. Gen. Psychiatry 34:721-25
28. 28. Baron M, Risch N, Hamburger R, et al. 1987. Genetic linkage between X-chromosome markers and bipolar affective illness. Nature 326:289-92
29. 29. Mendlewicz J, Linkowski P, Wilmotte J. 1980. Linkage between glucose-6-phosphate dehyrogenase deficiency and manic-depressive psychosis. Br. J. Psychiatry 137:337-38
30. 30. Mendlewicz J, Linkowski P, Guroff JJ, Van Praag HM. 1979. Color blindness linkage to manic-depressive illness. Arch. Gen. Psychiatry 36:1442-47
31. 31. Del Zompo M, Bochetta A, Goldin LR, Corsini GU. 1984. Linkage between X-chromosome markers and manic-depressive illness: two Sardinian pedigrees. Acta Psychiatry Scand. 70:282-87
32. 32. Berrettini WH, Goldin LR, Gelernter J, et al. 1990. X-chromosome markers and manic-depressive illness: rejection of linkage to Xq28 in nine bipolar pedigrees. Arch. Gen. Psychiatry 47:336-73
33. 33. Del Zompo M, Bocchetta A, Ruiu S, et al. 1991. Association and linkage studies of affective disorders. In Biological Psychiatry, ed. G Racagni, N Brunello, T Fukuda, 2:446-48. New York: Elsevier
34. 34. Vallada HP, Vasques L, Curtis D, et al. 1998. Linkage analysis between bipolar affective disorder and markers onchromosome X. Psychiatr. Genet. 8:183-86
35. 35. Baron M, Freimer NF, Risch N, et al. 1993. Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees. Nat. Genet. 3:49-55
36. 36. Goldgar DE, Lewis CU, Gholami K. 1993. Analysis of discrete phenotypes using a multipoint identity-by-descent method: application to Alzheimer's disease. Genet. Epidemiol. 10:383-388
37. 37. Gyapay G, Morissette J, Vignal A, et al. 1994. The 1993-94 Genethon human genetic linkage map. Nat. Genet. 7:246-339
38. 38. Dib C, Faure S, Fizames C, et al. 1996. A comprehensive genetic map of the human genome based on 5264 microsatellites. Nature 380:152-54
39. 39. Suarez B, Harpe CL, Van Eerdewegh P. 1994. Problems of replicating linkage claims in psychiatry. In Genetic Approaches to Mental Disorders. Proc. 82nd Annu. Meet. Am. Psychopathol. Assoc., ed. ES Gershon, CR Cloninger, pp. 23-46. Washington, DC: Am. Psychiatr.
40. 40. Thompson G. 1994. Identifying complex disease genes: progress and paradigms. Nat. Genet. 8:108-10
41. 41. Sandbrink R, Hartmann T, Masters CL, Beyreuther K. 1996. Genes contributing to Alzheimer's disease. Mol. Psychiatry 1:27-40
42. 42. Berrettini W, Ferraro T, Goldin L, et al. 1994. Chromosome 18 DNA markers and manic depressive illness: evidence for a susceptibility gene. Proc. Natl. Acad. Sci. USA 91:5918-21
43. 43. Berrettini W, Ferraro T, Choi H, et al. 1997. Linkage studies of bipolar illness. Arch. Gen. Psychiatry 54:32-39
44. 44. Stine OC, Xu J, Koskela R, et al. 1995. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am. J. Hum. Genet. 57: 1384-94
45. 45. Gershon ES, Badner JA, Ferraro TN, et al. 1996. Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar illness pedigrees. Neuropsychiatr. Genet. 67:1-8
46. 46. Nothen MM, Cichon S, Rohleder H, et al. 1999. Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families. Mol. Psychiatry 4:76-84
47. 47. Knowles JA, Rao PA, Cox-Matise T. 1998. No evidence for significant linkage between bipolar affective disorder and chromosome 18 pericentromeric markers in a large series of multiplex entended pedigrees. Am. J. Hum. Genet. 62:916-24
48. 48. Tilghman SM. 1999. The sins of the fathers and mothers: genomic imprinting in mammalian development. Cell 96: 185-93
49. 49. Schwab SG, Hallmayer J, Lerer B, et al. 1998. Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis. Am. J. Hum. Genet. 63:1139
50. 50. Gershon ES, DeLisi LE, Hamovit J, et al. 1988. A controlled family study of chronic psychoses. Schizophrenia and schizoaffective disorder. Arch. Gen. Pscyhiatry 45:328-36
51. 51. Maier W, Lichtermann D, Minges J, et al. 1993. Continuity and discontinuity of affective disorders and schizophrenia. Results of a controlled family study. Arch. Gen. Psychiatry 50:871-83
52. 52. Winokur G, Coryell W, Keller M, et al. 1995. A family study of manic-depressive (bipolar I) disease. Is it a distinct illness separable from primary unipolar depression? Arch. Gen. Psychiatry 52(5): 367-73
53. 53. Kendler KS, Karkowshi LM, Walsh D. 1998. The structure of psychosis. Arch. Gen. Psychiatry 55:492
54. 54. Hauser ER, Boehnke M, Guo S-W, Risch N. 1996. Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations. Genet. Epidemiol. 13:117-37
55. 55. Kalsi G, Smyth C, Brynjolfsson J, Sherrington RS, et al. 1997. Linkage analysis of manic depression (bipolar affective disorder) in Icelandic and British kindreds using markers on the short arm of chromosome 18. Hum. Heredity 47: 268-78
56. 56. De Bruyn A, Souery D, Mendelbaum K, et al. 1996. Linkage analysis of families with bipolar illness and chromosome 18 markers. Biol. Psychiatry 39:679-88
57. 57. Coon H, Hoff M, Holik J, et al. 1996. Analysis of chromosome 18 DNA markers in multiplex pedigrees with manic depression. Biol. Psychiatry 39:689-96
58. 58. Pauls DL, Ott J, Paul SM, et al. 1995. Linkage analyses of chromosome 18 markers do not identify a major susceptibility locus for bipolar affective disorder in the Old Order Amish. Am. J. Hum. Genet. 57:636-43
59. 59. Bowen T, Kirov G, Gill M, et al. 1999. Linkage studies of bipolar disorder with chromosome 18 markers. Am. J. Med. Genet. In press
60. 60. McMahon FJ, Hopkins PJ, Xu J, et al. 1997. Linkage of bipolar affective disorder to chromosome 18 markers in a new pedigree series. Am. J. Hum. Genet. 61:1397-1404
61. 61. Kelsoe J, Sadovick A, Kristbjarnarson H, et al. 1995. Genetic linkage studies of bipolar disorder and chromosome 18 markers in North American, Icelandic and Amish pedigrees. Psychiatr. Genet. 5:S17
62. 62. Detera-Wadleigh SD, Badner JA, Yoshikawa J, et al. 1997. Initial genomic scan of the NIMH genetics initiative bipolar pedigrees. Am. J. Med. Genet. 74:254-62
63. 63. Goldin LR, Gershon ES, Berrettini WH, et al. 1997. Description of the Genetic Analysis Workshop 10 bipolar disorder linkage data sets. Genet. Epidemiol. 14:563-68
64. 64. Lin JP, Bale SJ. 1997. Parental transmission and D18S37 allele sharing in bipolar affective disorder. Genet. Epidemiol. 14:665-68
65. 65. Freimer NB, Reus VI, Escamilla MA, et al. 1996. Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat. Genet. 12:436-41
66. 66. McInnes LA, Escamilla MA, Service SK, et al. 1996. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proc. Natl. Acad. Sci. USA 93:13060-65
67. 67. Straub RE, Lehner T, Luo Y, et al. 1994. A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Nat. Genet. 8:291-96
68. 68. Smyth C, Kalsi G, Brynjolfsson J, et al. 1996. Further tests for linkage of bipolar affective disorder to the tyrosine hydroxylase gene locus on chromosome 11p15 in a new series of multiplex British affective disorder pedigrees. Am. J. Psychiatry 153:271-74
69. 69. Detera-Wadleigh SD, Badner JA, Goldin LR, et al. 1996. Affected sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder on 21q. Am. J. Hum. Gen. 58:1279-85
70. 70. Kwok JB, Adams LJ, Salmon JA, et al. 1999. Non-parametric simulation-based statistical analyses for bipolar affective disorder locus on chromosome 21q22.3 Am. J. Med. Genet. 88:99-102
71. 71. Mendlewicz J, Simon P, Sevy S, et al. 1987. Polymorphic DNA marker on X-chromosome and manic depression. Lancet 1:1230-32
72. 72. Lucotte G, Landoulsi A, Berriche S, et al. 1992. Manic depressive illness is linked to factor IX in a French pedigree. Ann. Genet. 35:93-95
73. 73. Gill M, Castle D, Duggan C. 1992. Co-segregation of Christmas disease and major affective disorder in a pedigree. Br. J. Psychiatry 160:112-14
74. 74. Craddock N, Owen M. 1992. Christmas disease and major affective disorder. Br. J. Psychiatry 160:715
75. 75. Pekkarinen P, Terwilliger J, Bredbacka P-E, et al. 1995. Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree. Genome Res. 5:105-15
76. 76. Blackwood DHR, He L, Morris SW, et al. 1996. A locus for bipolar affective disorder on chromosome 4p. Nat. Genet. 12:427-30
77. 77. Nothen MM, Cichon S, Franzek E, et al. 1997. Systematic search for susceptibility genes in bipolar affective disorder -evidence for disease loci at 18p and 4p. Am. J. Hum. Genet. 61(S):A288
78. 78. Ewald H, Degn B, Mors B, Kruse TA. 1998. Support for the possible locus on chromosome 4p15 for bipolar affective disorder. Mol. Psychiatry 3:442-48
79. 79. Ginns EI, St Jean P, Philibert RA, et al. 1998. A genome-wide search for chromosomal loci linked to mental health wellness in relatives at high risk for bipolar affective disorder among the Old Order Amish. Proc. Natl. Acad. Sci. USA 95:15531-35
80. 80. Lachman HM, Kelsoe JR, Remick RA, et al. 1996. Linkage studies support a possible locus for bipolar disorder in the velocardiofacial syndrome region on chromosome 22. Am. J. Med. Genet. 74:121-28
81. 81. Edenberg H, Foroud T, Conneally M, et al. 1997. Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 3, 5, 15,16, 17, and 22. Am. J. Med. Genet. 74:238-46
82. 82. Kelsoe JR, Loetscher Spence MA, Foguet M, et al. 1998. A susceptibility locus for bipolar disorder on chromosome 22: results of a genome survey. Am. J. Hum. Genet. 63(Suppl.):A295 Abstract 1702
83. 83. Detera-Wadleigh SD, Badner JA, Berrettini WH, et al. 1999. Evidence for a bipolar susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2. Proc. Natl. Acad. Sci. USA 96:5604-9
84. 84. Pulver AE, Karayiorgou M, Wolyniec PS, et al. 1994. Sequential strategy to identify a susceptibility gene for schizophrenia: report of potential linkage on chromosome 22q12-q13.1: Part 1. Am. J. Med. Genet. 54:36-43
85. 85. Gill M, Vallada H, Collier D, et al. 1996. 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. 67:40-45
86. 86. Blouin J-L, Dombroski B, Nath SK, et al. 1998. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat. Genet. 20:70
87. 87. Baden N, Morisette J, Shink E, et al. 1998. Confirmation of bipolar affective disorder susceptibility locus on chromosome 12 in the region of the Darier disease gene. Am. J. Med. Genet. 81:475
88. 88. Ewald H, Degn B, Mors B, Kruse TA. 1998. Significant linkage between bipolar affective disorder and chromosome 12q24. Psychiatr. Genet. 8:131-40
89. 89. Craddock N, McGuffin P, Owen M. 1994. Darier's disease cosegregating with affective disorder. Br. J. Psychiatry 165:272
90. 90. Petronis A, Kennedy JL. 1995. Unstable genes - unstable mind? Am. J. Psychiatry 152:64-72
91. 91. McInnis MG, McMahon FJ, Chase GA, et al. 1993. Anticipation in bipolar affeclive disorder. Am. J. Hum. Genet. 53: 385-90
92. 92. Lipp O, Souery D, Mahieu B, et al. 1995. Anticipation in affective disorders. Psychiatr. Genet. 5:S8
93. 93. Nylander PO, Engstrom C, Shotai J, et al. 1994. Anticipation in Swedish families with bipolar affective disorder. J. Med. Genet. 31:686-89
94. 94. Gershon ES, Hamovit JH, Guroff JJ, Nurnberger JI Jr. 1987. Birth-cohort changes in manic and depressive disorders in relatives of bipolar and schizoaffective patients. Arch. Gen. Psychiatry 440:314-19
95. 95. Penrose LS. 1948. The problem of anticipation in pedigrees of dystrophia myotonica. Ann. Eugenics 14:125
96. 96. Hodge SE, Wickramaratne P. 1995. Statistical pitfalls in detecting age-at-onset anticipation: the role of correlation in studying anticipation and detecting ascertainment bias. Psychiatr. Genet. 5: 43-47
97. 97. O'Donovan MC, Guy C, Craddock N, et al. 1995. Expanded CAG repeats in schizophrenia and bipolar disorder. Nat. Genet. 10:380
98. 98. O'Donovan MC, Guy C, Craddock N, et al. 1996. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychol. Med. 26:1145-53
99. 99. Lindblad K, Nylander P-O, De Bruyn A, et al. 1995. Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol. Dis. 2:55-62
100. 100. Oruc L, Lindblad K, Verheyen GR, et al. 1997. CAG repeat expansions in bipolar and unipolar disorders. Am. J. Hum. Genet. 60:730-32
101. 101. Schalling M, Hudson TJ, Buetow KH, Housman DE. 1993. Direct detection of novel expanded trinucleotide repeat in the human genome. Nat. Genet. 4:135-39
102. 102. Vincent JB, Klempan T, Parikh SS, et al. 1996. Frequency analysis of large CAG/CTG trinucleotide repeats in schizophrenia and bipolar affective disorder. Mol. Psychiatry 1:141-48
103. 103. Sidransky E, Burgess C, Ikeuchi T, et al. 1998. A triplet repeat on 17q accounts for most expansions detected by the repeat-expansion detection technique. Am. J. Hum. Genet. 62:1548
104. 104. Lin MW, Sham P, Hwu HG, et al. 1997. Suggestive evidence for linkage of schizophrenia to markers on chromosome 13 in Caucasian but not Oriental populations. Hum. Genet. 99:417-20