Are schizophrenic and bipolar disorders related? A review of family and molecular studies

Biological Psychiatry

Volumn 48, Issue 6, 2000, Pages 531-538

  Berrettini, Wade H ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Bipolar disorder; Family studies; Genetic linkage; Schizophrenia

Indexed keywords

CHROMOSOME 10P; CHROMOSOME 13Q; CHROMOSOME 18Q; CHROMOSOME 22Q; DISEASE CLASSIFICATION; DISEASE PREDISPOSITION; FAMILY STUDY; GENE LOCUS; GENETIC LINKAGE; HUMAN; MANIC DEPRESSIVE PSYCHOSIS; ONSET AGE; PRIORITY JOURNAL; REVIEW; RISK FACTOR; SCHIZOPHRENIA; SUICIDE;

BIPOLAR DISORDER; FAMILY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LINKAGE (GENETICS); LOD SCORE; SCHIZOPHRENIA; TWIN STUDIES;

EID: 0034666043     PISSN: 00063223     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-3223(00)00883-0     Document Type: Review

References (79)

1. Adler L.E., Freedman R., Ross R.G., Olincy A., Waldo M.C. Elementary phenotypes in the neurobiological and genetic study of schizophrenia. Biol Psychiatry. 46:1999;8-18.
2. Aita V.M., Liu J., Knowles J.A., Terwilliger J.D., Baltazar R., Grunn A., et al. A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. Am J Hum Genet. 64:1999;210-217.
3. Angst J., Frey R., Lohmeyer R., Zerben-Rubin E. Bipolar manic depressive psychoses Results of a genetic investigation . Hum Genet. 55:1980;237-254.
4. Barden N., Morisette J., Shink E., et al. Confirmation of bipolar affective disorder susceptibility locus on chromosome 12 in the region of the Darier disease gene. Am J Med Genet. 81:1998;475.
5. Baron M., Gruen R., Anis L., Kane J. Schizoaffective illness, schizophrenia and affective disorders Morbidity risk and genetic transmission . Acta Psychiatr Scand. 65:1983;253-262.
6. Berrettini W., Ferraro T., Choi H., Goldin L., Detera-Wadleigh S.D., Muniec D., et al. Linkage studies of bipolar illness. Arch Gen Psychiatry. 54:1997;32-39.
7. Berrettini W., Ferraro T., Goldin L., Weeks D., Detera-Wadleigh S.D., Nurnberger J.I. Jr, Gershon E. Chromosome 18 DNA markers and manic depressive illness Evidence for a susceptibility gene . Proc Natl Acad Sci U S A. 91:1994;5918-5921.
8. Blackwood D.H.R., He L., Morris S.W., McLean A., Whitton C., Thomson M., et al. A locus for bipolar affective disorder on chromosome 4p. Nat Genet. 12:1996;427-430.
9. Blouin J-L, Dombroski B, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, et al: Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 20:70.
10. Brzustowicz L.M., Honer W.G., Chow E.W.C., Little D., Hogan J., Hodgkinson K., et al. Linkage of famlial schizophrenia to chromosome 13q32. Am J Hum Genet. 65:1999;1096-1103.
11. Cao Q., Martinez M., Zhang J., Sanders A.R., Badner J.A., Cravchik A., et al. Suggestive evidence for a schizophrenia susceptibility locus on chromosome 6q and a confirmation in an independent series of pedigrees. Genomics. 43:1997;1-8.
12. Carlson C., Papolos D., Pandita R.K., Faedda G.L., Veit S., Goldberg R., et al. Molecular analysis of VCFS patients with psychiatric disorders. Am J Med Genet. 60:1997;851-859.
13. Concannon P., Gogolin-Ewens K.J., Hinds D.A., Wapelhorst B., Morrison V.A., Stirling B., et al. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nat Genet. 19:1998;292-296.
14. Corder E.H., Saunders A.M., Strittmatter W.J., Schmechel D.E., Gaskell P.C., Small G.W., et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science. 261:1993;921-923.
15. Davies J.L., Kawaguchi Y., Bennett S.T., Copeman J.B., Cordell H.J., Pritchard L.E., et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature. 371:1994;130-136.
16. Detera-Wadleigh S.D., Badner J.A., Berrettini W.H., Yoshikawa T., Goldin L.R., Turner G., et al. Evidence for a bipolar susceptibility locus on 13q32 and other potential loci on 1q32 and 18p11.2. Proc Natl Acad Sci U S A. 96:1999;5604-5609.
17. Detera-Wadleigh S.D., Badner J.A., Goldin L.R., Berrettini W.H., Sanders A.R., Rollins D.Y., et al. Affected sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder on 21q. Am J Hum Genet. 58:1996;1279-1285.
18. Detera-Wadleigh S.D., Hsieh W.-T., Berrettini W.H., Goldin L.R., Rollins D.Y., Muniec D., et al. Genetic linkage mapping for a susceptibility locus to bipolar illness Chromosomes 2, 3, 4, 7, 9, 10p, 11p, 22, and Xpter . Neuropsychiatr Genet. 74:1997;206-218.
19. Edenberg H., Foroud T., Conneally M., Sorbel J., Carr K., Crose C., et al. Initial genomic scan of the NIMH genetics initiative bipolar pedigrees chromosomes 3,5,15,16,17, and 22 . Neuropsychiatr Genet. 74:1997;238-246.
20. Ewald H., Degn B., Mors B., Kruse T.A. Significant linkage between bipolar affective disorder and chromosome 12q24. Psychiatr Genet. 8:1998;131-140.
21. Ewald H., Degn B., Mors B., Kruse T.A. Support for the possible locus on chromosome 4p15 for bipolar affective disorder. Mol Psychiatry. 3:1998;442-448.
22. Faraone S.V., Matise T., Svrakic D., Pepple J., Malaspina D., Suarez B., et al. Genome scan of European-American schizophrenia kindreds Results of the NIMH Genetics Initiative and Millenium consortium . Am J Med Genet. 81:1998;290-295.
23. Ford J. Schizophrenia The broken P300 and beyond . Psychophysiology. 36:1999;667-682.
24. Foroud T., Castelluccio P.F., Keller D.L., Edenberg H.J., Mill M., Bowman E., et al. Suggestive evidence of a locus on chromosome 10p using the NIMH Genetics Initiative bipolar affective disorder pedigrees. Am J Med Genet. 96:2000;18-23.
25. Freedman R., Coon H., Myles-Worsley M., Orr-Urtreger A., Olincy A., Davis A., et al. Linkage of neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci U S A. 94:1997;587-592.
26. Freimer N.B., Reus V.I., Escamilla M.A., McInnes L.A., Spesny M., Leon P., et al. Genetic maping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet. 12:1996;436-441.
27. Futreal P.A., Liu Q., Shattuck-Eidens D., Cochran C., Harshman K., Tavtigian S., et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science. 266:1994;120-122.
28. Gershon E.S., Badner J.A., Ferraro T.N., Detera-Wadleigh S., Berrettini W.H. Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar illness pedigrees. Neuropsychiatr Genet. 67:1996;1-8.
29. Gershon E.S., DeLisi L.E., Hamovit J., Nurnberger J.I. Jr, Maxwell M.E., Schreiber J., et al. A controlled family study of chronic psychoses. Arch Gen Psychiatry. 45:1988;328-336.
30. Gershon E.S., Hamovit J., Guroff J.J., Dibble E., Leckman J.F., Sceery W., et al. A family study of schizoaffective, bipolar I, bipolar II, unipolar, and normal control probands. Arch Gen Psychiatry. 39:1982;1157-1167.
31. Gill M., Vallada H., Collier D., Sham P., Holmans P., Murray R., et al. 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. 67:1996;40-45.
32. Ginns E.I., St Jean P., Philibert R.A., Galdzicka M., Damschroder-Williams P., Thiel B., et al. A genome 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 U S A. 95:1998;15531-15536.
33. Goldin L.R., Gershon E.S., Berrettini W.H., Stine O.C., DePaulo R., McMahon F., et al. Description of the Genetic Analysis Workshop 10 bipolar disorder linkage data sets. Genet Epidemiol. 14:1997;563-568.
34. Gurling H.M.D., Kalsi G., Blaveri E., McQuillin A., Read I., Murphy P., et al. Initial genome wide parametric genetic linkage analysis of schizophrenia and schizophrenia spectrum disorders finds LOD scores above 3.00 on four chromosomes at 1q22-23, 5q22-35, 8p21-23 and 11q14-24. Mol Psychiatry. 4:(suppl):1999;S4.
35. Hall J.M., Lee M.K., Newman B., Morrow J.E., Anderson L.E., Nuey B., et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 250:1990;1684-1690.
36. Hanis C.L., Boerwinkle E., Chakraborty R., Ellsworth D.L., Concannon P., Stirling B., et al. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet. 13:1996;161-166.
37. Hauser E.R., Boehnke M., Guo S.-W., Risch N. Affected sib pair interval mapping and exclusion for complex genetic traits. Genet Epidemiol. 13:1996;117-137.
38. Helzer J.E., Winokur G. A family interview study of male manic-depressives. Arch Gen Psychiatry. 31:1974;73-77.
39. James N.M., Chapman C.J. . A genetic study of bipolar affective disorder. Br J Psychiatry. 126:1975;449-456.
40. Johnson G.F.S., Leeman M.M. Analysis of familial factors in bipolar affective illness. Arch Gen Psychiatry. 34:1977;1074-1083.
41. Kelsoe J.R., Loetscher E., Spence M.A., Foguet M., Sadovnick A.D., Remick R.A., et al. A susceptibility locus for bipolar disorder on chromosome 22 Results of a genome survey . Am J Hum Genet. 63:(suppl):1998;A295.
42. Kelsoe J.R., Spence M.A., Loetscher E., Sadovnick A.D., Remick R.A., Keck P.E., et al. A genome survey indicates a susceptibility locus for bipolar disorder on chromosome 22. Mol Psychiatry. 4:(suppl 1):1999;S74.
43. Kendler K.S., McGuire M., Gruenberg A.M., O'Hare A., Spellman M., Walsh D. The Roscommon family study. Arch Gen Psychiatry. 50:1993;527-540.
44. Kruglyak L., Lander E.S. High-resolution genetic mapping of complex traits. Am J Hum Genet. 57:1995;1212-1223.
45. Kwok J.B., Adams L.J., Salmon J.A., Donald J.A., Mitchell P.B., Schofield P.R. Non-parametric simulaton-based statistical analyses for bipolar affective disorder locus on chromosome 21q22.3. Am J Med Genet. 88:1999;99-102.
46. Lachman H.M., Kelsoe J.R., Remick R.A., Sadovnick A.D., Rapaport M.H., Lin M., et al. Linkage studies support a possible locus for bipolar disorder in the velocardiofacial syndrome region on chromosome 22. Am J Med Genet. 74:1996;121-128.
47. Lander E., Kruglyak L. Genetic dissection of complex traits Guidelines for interpreting and reporting linkage results . Nat Genet. 11:1995;241-247.
48. Lander E., Schork N. Genetic dissection of complex traits. Science. 265:1994;2037-2048.
49. Levinson D.F. Additional support for schizophrenia linkage for chromosomes 6 and 8. Am J Med Genet. 67:1996;580-594.
50. Lin J.P., Bale S.J. Parental transmission and D18S37 allele sharing in bipolar affective disorder. Genet Epidemiol. 14:1997;665-668.
51. Maier W., Lichtermann D., Minges J., Hallmayer J., Heun R., Benkert O., et al. Continuity and discontinuity of affective disorders and schizophrenia. Results of a controlled family study. Arch Gen Psychiatry. 50:1993;871-883.
52. Martinez M., Goldin L.R., Cao Q., Zhang J., Sanders A.R., Nancarrow D.J., et al. Follow-up study on a susceptibility locus for schizophrenia on chromosome 6q. Am J Med Genet. 88:1999;337-343.
53. Mayeux R., Stern Y., Ottman R., Tatemichi T.K., Tang M.X., Maestre G., et al. The apolipoprotein E4 allele in patients with Alzheimer's disease. Ann Neurol. 34:1993;752-754.
54. Maziade M., Bissonnette L., Rouillard E., Martinez M., Turgeon M., Charron L., et al. 6p24-22 region and major psychoses in the eastern Quebec population. Am J Med Genet. 74:1997;311-318.
55. McInnes L.A., Escamilla M.A., Service S.K., Reus V.I., Leon P., Silva S., et al. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proc Natl Acad Sci U S A. 93:1996;13060-13065.
56. McMahon F.J., Hopkins P.J., Xu J., McInnis M.G., Shaw S., Cardon L., et al. Linkage of bipolar affective disorder to chromosome 18 markers in a new pedigree series. Am J Hum Genet. 61:1997;1397-1404.
57. Moises H.W., Yang L., Kristbjarnarson H., Wiese C., Byerley W., Macciardi F., et al. An international two-stage genome-wide search for schizophrenia susceptibility genes. Nat Genet. 11:1995;321-324.
58. Morissette J., Villeneuve A., Bordeleau L., Rochette D., Laberge C., Gagne B., et al. Genome-wide search for linkage of bipolar affective disorders in a very large pedigree derived from a homogeneous population in Quebec points to a locus of major effect on chromosome 12q23-q24. Am J Med Genet. 88:1999;567-587.
59. Nothen M.M., Cichon S., Franzek E., Albus M., Bormann M., Rietschel R., et al. Systematic search for susceptibility genes in bipolar affective disorder - evidence for disease loci at 18p and 4 p. Am J Hum Genet. 61S:1997;A288.
60. Nothen M.M., Cichon S., Rohleder H., Hemmer S., Franzek E., Fritze J., et al. Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families. Mol Psychiatry. 4:1999;76.
61. Nurnberger J.I. Jr, Berrettini W.H. Psychiatric Genetics. 1998;Chapman and Hall, London.
62. Papolos D.F., Faedda G.L., Veit S., Goldberg R., Morrow B., Kucherlapati R., et al. Bipolar spectrum disorders in patients diagnoses with VCFS Does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry. 153:1996;1541-1547.
63. Pulver A.E., Karayiorgou M., Wolyniec P.S., Lasseter V.K., Kasch L., Nestadt G., et al. Sequential strategy to identify a susceptibility gene for schizophrenia report of potential linkage on chromosome 22q12-q13.1: Part 1 . Am J Med Genet. 54:1994;36-43.
64. Pulver A.E., Nestadt G., Goldberg R., Shprintzen R.J., Lamacz M., Wolyniec P.S., et al. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis. 182:1994;476-478.
65. Roberts S.B., MacLean C.J., Neale M.C., Eaves L.J., Kendler K.S. Replication of linkage studies of complex traits An examination of variation in location estimates . Am J Hum Genet. 65:1999;876-884.
66. Schwab S.G., Albus M., Hallmayer J., Honig S., Borrmann Lichtermann D., et al. Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by multipoint affected sib-pair linkage analysis. Nat Genet. 11:1995;325-327.
67. Schwab S.G., Hallmayer J., Albus M., Lerer B., Hanses C., Kanyas K., et al. Further evidence for a susceptibility locus on chromosome 10p14-p11 in 72 families with schizophrenia by non-parametric linkage analysis. Am J Med Genet. 81:1999;302-307.
68. Schwab S.G., Hallmayer J., Lerer B., Albus M., Borrmann M., Honig S., et al. Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis. Am J Hum Genet. 63:1998;1139.
69. Smyth C., Kalsi G., Brynjolfsson J., O'Neill J., Curtis D., Rifkin L., et al. 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. 153:1996;271-274.
70. Stine O.C., Xu J., Koskela R., McMahon F.J., Geschwend M., Friddle C., et al. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet. 57:1995;1384-1394.
71. Straub R.E., Lehner T., Luo Y., Loth J.E., Shao W., Sharpe L., et al. A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Nat Genet. 8:1994;291-296.
72. Straub R.E., MacLean C.J., Martin R.B., Ma Y., Myakishev M.V., Harris-Kerr C., et al. A schizophrenia locus may be located in region 10p15-p11. Am J Med Genet. 81:1998;296-301.
73. Straub R.E., MacLean C.J., O'Neill F.A., Burke J., Murphy B., Duke F., et al. A potential vulnerability locus for schzophrenia on chromosome 6p22-24 Evidence for genetic heterogeneity . Nat Genet. 11:1995;287-293.
74. Suarez B., Harpe C.L., Van Eerdewegh P. Problems of replicating linkage claims in psychiatry. Gershon E.S., Cloninger C.R. Genetic Approaches to Mental Disorders. Proceedings of the 82nd Annual Meeting of the American Psychopathological Association. 1994;23-46 American Psychiatric Press, Washington, DC.
75. Tsai M.-S., Tangalos E.G., Petersen R.C., Smith G.E., Schaid D.J., Kokmen E., et al. Apolipoprotein E Risk factor for Alzheimer disease . Am J Hum Genet. 54:1994;643-649.
76. Turecki G., Grof P., Cavazzoni P., Duffy A., Grof E., Martin R., et al. Lithium responsive bipolar disorder, unilineality and chromosome 18 A linkage study . Am J Med Genet. 88:1999;411-415.
77. Weissman M.M., Gershon E.S., Kidd K.K., Prusoff B.A., Leckman J.F., Dibble E., et al. Psychiatric disorders in the relatives of probands with affective disorder. Arch Gen Psychiatry. 41:1984;13-21.
78. Winokur G., Coryell W., Keller M., Endicott J., Leon A. A family study of manic-depressive (bipolar I) disease. Is it a distinct illness separable from primary unipolar depression? Arch Gen Psychiatry. 52:1995;367-373.
79. Winokur G., Tsuang M.T., Crowe R.R. The Iowa 500 Affective disorder in relatives of manic and depressed patients . Am J Psychiatry. 139:1982;209-212.