Genome-wide scan of bipolar disorder in 65 pedigrees: Supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12

Molecular Psychiatry

Volumn 8, Issue 3, 2003, Pages 288-298

  McInnis, M G ^a,b,i   Lan, T H ^b,c,d   Willour, V L ^a   McMahon, F J ^a,j   Simpson, S G ^a   Addington, A M ^a   MacKinnon, D F ^a   Potash, J B ^a   Mahoney, A T ^a   Chellis, J ^a   Huo, Y ^a   Swift Scanlan, T ^a   Chen, H ^a   Koskela, R ^a   Colin Stine, O ^a,l   Jamison, K R ^a   Holmans, P ^e   Folstein, S E ^f   Ranade, K ^g   Friddle, C ^g,k   Botstein, D ^f   Marr, T ^h   Beaty, T H ^b   Zandi, P ^a,b   Raymond DePaulo, J ^a   more..

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

^b JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^c YULI VETERANS HOSPITAL   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e MRC BIOSTATISTICS UNIT   (United Kingdom)

^f TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g STANFORD UNIVERSITY   (United States)

^h CNS Genetics Corp   (United States)

ⁱ JOHNS HOPKINS HOSPITAL   (United States)

^j NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^k LEXICON PHARMACEUTICALS INC   (United States)

^l UNIVERSITY OF MARYLAND   (United States)

more..

Author keywords

Bipolar disorder; Genetics; Genome scan; Linkage

Indexed keywords

ADULT; ANALYTIC METHOD; ARTICLE; BIPOLAR DISORDER; CHROMOSOME 13Q; CHROMOSOME 18Q; CHROMOSOME 2P; CHROMOSOME 4Q; CHROMOSOME 8Q; CONTROLLED STUDY; FAMILY HISTORY; GENE LOCUS; GENETIC LINKAGE; GENOME ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; NONPARAMETRIC TEST; PEDIGREE; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE;

ADOLESCENT; ADULT; BIPOLAR DISORDER; CHROMOSOMES, HUMAN; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; FAMILY HEALTH; GENOME, HUMAN; GENOMIC IMPRINTING; GENOTYPE; HUMANS; LINKAGE (GENETICS); PARENTS; PEDIGREE;

EID: 0038614937     PISSN: 13594184     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.mp.4001277     Document Type: Article

References (85)

1. Goodwin FK, Jamison KR. Manic Depressive Illness. Oxford University Press: New York, 1990.
2. Gershon ES, Hamovit J, Guroff JJ, Nurnberger JI, Goldin LR, Bunney WE. A family study of schizoaffective, bipolar I, bipolar II, unipolar and normal control probands. Arch Gen Psychiatry 1982; 39: 1157-1167.
3. Bertelsen A, Harvald B, Hauge M. A Danish twin study of manic depressive disorders. Br J Psychiatry 1977; 130: 330-351.
4. Mendlewicz J, Rainer JD. Adoption study supporting genetic transmission in manic-depressive illness. Nature 1977; 268: 327-329.
5. Risch NJ, Botstein D. A manic depressive history. Nat Genet 1996; 12: 351-353.
6. Berrettini WH. Genetics of psychiatric disease. Annu Rev Med 2000; 51: 465-479.
7. Blacker D, Tsuang MT. Unipolar relatives in bipolar pedigrees: are they bipolar? Psychiatr Genet 1993; 3: 5-16.
8. Detera-Wadleigh SD, Badner JA, Yoshikawa T, Sanders AR, Goldin LR, Turner G et al. Initial genome scan of the NIMH genetics initiative bipolar pedigrees: chromosomes 4, 7, 9, 18, 19, 20, and 21q. Am J Med Genet 1997; 74: 254-262.
9. Nurnberger JI, DePaulo JR, Gershon ES, Reich T, Blehar MC, Edenberg et al. Genomic survery of the bipolar illness in the NIMH Genetics Initiative pedigrees - a preliminary report. Am J Med Genet 1997; 74: 227-237.
10. Friddle C, Koskela R, Ranade K, Hebert J, Cargill M, Clark CD et al. Full-genome scan for linkage in 50 families segregating the bipolar affective disease phenotype. Am J Hum Genet 2000; 66: 205-215.
11. Craddock N, Jones I. Genetics of bipolar disorder. J Med Genet 1999; 36: 585-594.
12. Cichon S, Schumacher J, Muller DJ, Hurter M, Windemuth C, Strauch K et al. A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q. Hum Mol Genet 2001; 10: 2933-2944.
13. DeLisi LE, Crow TJ. Chromosome workshops 1998: current state of psychiatric linkage. Am J Med Genet 1999; 88: 215-218.
14. Badenhop RF, Moses MJ, Scimone A, Mitchell PB, Ewen KR, Rosso A et al. A genome screen of a large bipolar affective disorder pedigree supports evidence for a susceptibility locus on chromosome 13q. Mol Psychiatry 2001; 6: 396-403.
15. Bennett P, Segurado R, Jones I, Bort S, Mccandless F, Lambert D et al. The Wellcome trust UK-Irish bipolar affective disorder sibling-pair genome screen: first stage report. Mol Psychiatry 2002; 7: 189-200.
16. Kelsoe JR, Spence MA, Loetscher E, Foguet M, Sadovnick AD, Remick RA et al. A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc Natl Acad Sci USA 2001; 98: 585-590.
17. Ewald H, Flint TJ, Jorgensen TH, Wang AG, Jensen P, Vang M et al. Search for a shared segment on chromosome 10q26 in patients with bipolar affective disorder or schizophrenia from the Faroe Islands. Am J Med Genet 2002; 114: 196-204.
18. Lander ES, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247.
19. Stine OC, Xu J, Koskela R, McMahon FJ, Gschwend M, Friddle C et al. Evidence for linkage of bipolar disorder to chromsome 18 with a parent-of-origin effect. Am J Hum Genet 1995; 57: 1384-1394.
20. McMahon FJ, Hopkins PJ, Xu J, McInnis MG, Shaw S, Cardon L et al. Linkage of bipolar affective disorder to chromosome 18 markers in a new pedigree series. Am J Hum Genet 1997; 61: 1397-1404.
21. Simpson SG, Folstein SE, Meyers DA, DePaulo JR. Assessment of lineality in bipolar I linkage studies. Am J Psychiatry 1992; 149: 1660-1665.
22. Endicott J, Spitzer RL. A diagnostic interview: the schedule for affective disorders and schizophrenia. Arch Gen Psychiatry 1978; 35: 837-844.
23. Spitzer RL, Endicott J, Robins E. Research Diagnostic Criteria for a Selected Group of Functional Disorders, 1st edn. Biometrics Research: New York, 1975.
24. Leckman JF, Sholomskas D, Thompson WD, Belanger A, Weissman MM. Best estimate of lifetime psychiatric diagnosis: a methodological study. Arch Gen Psychiatry 1982; 39: 879-883.
25. Simpson SG, McMahon FJ, McInnis MG, MacKinnon DF, Edwin D, Folstein SE et al. Diagnostic reliability of bipolar II disorder. Arch Gen Psychiatry 2002; 59: 736-740.
26. Young A. Genetic Analysis System, V2.0, 1995, ftp://ftp.ox.ac.uk/pub/users/ayoung.
27. Lander ES, Green P. Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 1987; 84: 2363-2367.
28. Lathrop GM, Lalouel JM, Julier C, Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 1984; 81: 3443-3446.
29. Kong A, Cox NJ. Allele-sharing models - LOD scores and accurate linkage tests. Am J Hum Genet 1997; 61: 1179-1188.
30. Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
31. Kehoe P, Wavrant-De Vrieze F, Crook R, Wu WS, Holmans P, Fenton I et al. A full genome scan for late onset Alzheimer's disease. Hum Mol Genet 1999; 8: 237-245.
32. Strauch K, Fimmers R, Windemuth C, Hahn A, Wienker TF, Baur MP. Linkage analysis with adequate modegling of a parent-of-origin effect. Genet Epidemiol 1999; 17(Suppl 1): S331-S336.
33. Rice JP. The role of meta-analysis in linkage studies of complex traits. Am J Med Genet 1997; 74: 112-114.
34. Pandey A, Duan H, Dixit VM. Characterization of a novel Src-like adapter protein that associates with the Eck receptor tyrosine kinase. J Biol Chem 1995; 270: 19201-19204.
35. Meijerink PH, Yanakiev P, Zorn I, Grierson AJ, Bikker H, Dye D et al. The gene for the human Src-like adaptor protein (hSLAP) is located within the 64-kb intron of the thyroglobulin gene. Eur J Biochem 1998; 254: 297-303.
36. McMahon FJ, Simpson SG, McInnis MG, Badner JA, MacKinnon DF, DePaulo JR. Linkage of bipolar disorder to chromosome 18q and the validity of bipolar II disorder. Arch Gen Psychiatry 2001; 58: 1025-1031.
37. De Bruyn A, Souery D, Mendelbaum K, Mendlewicz J, Van BC. Linkage analysis of families with bipolar illness and chromosome 18 markers. Biol Psychiatry 1996; 39: 679-688.
38. Nothen MM, Cichon S, Rohleder H, Hemmer S, Franzek E, Fritze J et al. Evaluation of linkage of bipolar affective disorder in a sample of 57 German families. Mol Psychiatry 1999; 4: 76-84.
39. McInnes LA, Escamilla MA, Service SK, Reus VI, 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 USA 1996; 93: 13060-13065.
40. Suarez BK, Hampe CL, Eerdewegh PV. Problems of replicating linkage claims in psychiatry. In: Gershon ES, Cloninger CR (eds). Genetic Approaches to Mental Disorders. American Psychiatric Press: Washington, DC, 1994, pp 23-46.
41. Freimer NB, Reus VI, Escamilla MA, McInnes LA, Spesny M, Leon P et al. Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet 1996; 12: 436-441.
42. Bowen T, Kirov G, Gill M, Spurlock G, Vallada HP, Murray RM et al. Linkage studies of bipolar disorder with chromosome 18 markers. Am J Med Genet 1999; 88: 503-509.
43. Van Broeckhoven C, Verheyen G. Report of the chromosome 18 workshop. Am J Med Genet 1999; 88: 263-270.
44. Ekholm J, Kiesseppaa T, Partonen T, Paunio T, Perola M, Löhnqvist J et al. Genome-wide scan in Finnish familes provides evidence for a locus for bipolar disorder. Am J Hum Genet 2001; 69: 580.
45. Vasiliev GV, Merkulov VM, Kobzev VF, Merkulova TI, Ponomarenko MP, Kolchanov NA. Point mutations within 663-666bp of intron 6 of the human TDO2 gene, associated with a number of psychiatric disorders, damage the YY-1 transcription factor binding site. FEBS Lett 1999; 462: 85-88.
46. Milani N, Mulhardt C, Weber RG, Lichter P, Kioschis P, Poustka A et al. The human glycine receptor beta subunit gene (GLRB): structure, refined chromosomal localization, and population polymorphism. Genomics 1998; 50: 341-345.
47. Chen YC, Kung SS, Chen BY, Hung CC, Chen CC, Wang TY et al. Identifications, classification, and evolution of the vertebrate alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA) receptor subunit genes. J Mol Evol 2001; 53: 690-702.
48. Adams LJ, Mitchell PB, Fielder SL, Rosso A, Donald JA, Schofield PR. A susceptibility locus for bipolar affective disorder on chromosome 4q35. Am J Hum Genet 1998; 62: 1084-1091.
49. Slaugenhaupt SA, Roca AL, Liebert CB, Altherr MR, Gusella JF, Reppert SM et al. Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics 1995; 27: 355-357.
50. Stine OC, McMahon FJ, Chen L, Xu J, Meyers DA, MacKinnon DF et al. Initial genome screen for bipolar disorder in the NIMH genetics initiative pedigrees: chromosomes 2, 11, 13, 14, and X. Am J Med Genet 1997; 74: 263-269.
51. Ginns EI, Ott J, Egeland JA, Allen CR, Fann CSJ, Pauls DL et al. A genome-wide search for chromosomal loci linked the bipolar affective disorder in the Old Order Amish. Nat Genet 1996; 12: 431-435.
52. Campbell DA, Sundaramurthy D, Markham AF, Pieri LF. Fine mapping of the human 5-HTR2a gene to chromosome 13q14 and identification of two highly polymorphic linked markers suitable for association studies in psychiatric disorders. Genet Test 1997; 1: 297-299.
53. Massat I, Souery D, Lipp O, Blairy S, Papadimitriou G, Dikeos D et al. A European multicenter association study of HTR2A receptor polymorphism in bipolar affective disorder. Am J Med Genet 2000; 96: 136-140.
54. Vincent JB, Masellis M, Lawrence J, Choi V, Gurling HM, Parikh SV et al. Genetic association analysis of serotonin system genes in bipolar affective disorder. Am J Psychiatry 1999; 156: 136-138.
55. Gutierrez B, Bertranpetit J, Collier D, Arranz MJ, Valles V, Guillamat R et al. Genetic variation of the 5-HT2A receptor gene and bipolar affective disorder. Hum Genet 1997; 100: 582-584.
56. Blairy S, Massat I, Staner L, Le Bon O, Van Gestel S, Van Broeckhoven C et al. 5-HT2a receptor polymorphism gene in bipolar disorder and harm avoidance personality trait. Am J Med Genet 2000; 96: 360-364.
57. Detera-Wadleigh SD, Badner JA, Berrettini WH, Yoshikawa T, Goldin LR, Turner G et al. 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 USA 1999; 96: 5604-5609.
58. Ekelund J, Hovatta I, Parker A, Paunio T, Varilo T, Martin R et al. Chromosome 1 loci in Finnish schizophrenia families. Hum Mol Genet 2001; 10: 1611-1617.
59. Gurling HM, Kalsi G, Brynjolfson J, Sigmundsson T, Sherrington R, Mankoo BS 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.
60. Berrettini WH. Are schizophrenic and bipolar disorders related? A review of family and molecular studies. Biol Psychiatry 2000; 48: 531-538.
61. Turecki G, Smith M, Mari JJ. Type I bipolar disorder associated with a fragile site on chromosome 1. Am J Med Genet 1995; 60: 179-182.
62. Blackwood DH, Fordyce A, Walker MT, St Clair DM, Porteous DJ, Muir WJ. Schizophrenia and affective disorders - coseggregation 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.
63. Radhakrishna U, Senol S, Herken H, Gucuyener K, Gehrig C, Blouin JL et al. An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree. Eur J Hum Genet 2001; 9: 39-44.
64. Yang-Feng TL, Han H, Lomasney JW, Caron MG. Localization of the cDNA for an alpha 1-adrenergic receptor subtype (ADRA1D) to chromosome band 20p13. Cytogenet Cell Genet 1994; 66: 170-171.
65. Elson A, Kozak CA, Morton CC, Weremowicz S, Leder P. The protein tyrosine phosphatase epsilon gene maps to mouse chromosome 7 and human chromosome 10q26. Genomics 1996; 31: 373-375.
66. Mowry BJ, Ewen KR, Nancarrow DJ, Lennon DP, Nertney DA, Jones HL et al. Second stage of a genome scan of schizophrenia: study of five positive regions in an expanded sample. Am J Med Genet 2000; 96: 864-869.
67. Williams NM, Rees MI, Holmans P, Norton N, Cardno AG, Jones LA et al. A two-stage genome scan for schizophrenia susceptibility genes in 196 affected sibling pairs. Hum Mol Genet 1999; 8: 1729-1739.
68. Craddock N, McGuffin P, Owen MJ. Darier's disease cosegregating with affective disorder. Br J Psychiatry 1994; 165: 355-358.
69. 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 1999; 88: 567-587.
70. Degn B, Lundorf MD, Wang A, Vang M, Mors O, Kruse TA et al. Further evidence for a bipolar risk gene on chromosome 12q24 suggested by investigation of haplotype sharing and allelic association in patients from the Faroe Islands. Mol Psychiatry 2001; 6: 450-455.
71. Murphy VE, Mynett-Johnson LA, Claffey E, Bergin P, McAuliffe M, Kealey C et al. Search for bipolar disorder susceptibility loci: the application of a modified genome scan concentrating on gene-rich regions. Am J Med Genet 2000; 96: 728-732.
72. Kealey C, Reynolds A, Mynett-Johnson L, Claffey E, McKeon P. No evidence to support an association between the oestrogen receptor beta gene and bipolar disorder. Psychiatr Genet 2001; 11: 223-226.
73. Mccandless F, Jones I, Harper K, Craddock N. Intrafamilial association of pericentric inversion of chromosome 9, inv (9)(p11-q21), and rapid cycling bipolar disorder. Psychiatr Genet 1998; 8: 259-262.
74. Berrettini WH, Ferraro TN, Goldin LR, Weeks DE, Detera-Wadleigh S, Nurnberger Jr JI et al. Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. Proc Natl Acad Sci USA 1994; 91: 5918-5921.
75. Kato T, Winokur G, Coryell W, Keller MB, Endicott J, Rice J. Parent-of-origin effect in transmission of bipolar disorder. Am J Med Genet 1996; 67: 546-550.
76. Kato T, Winokur G, Coryell W, Rice J, Endicott J, Keller MB et al. Failure to demonstrate parent-of-origin effect in transmission of bipolar II disorder. J Affect Dis 1998; 50: 135-141.
77. McMahon FJ, Stine OC, Meyers DA, Simpson SG, DePaulo JR. Patterns of maternal transmission in bipolar affective disorder. Am J Hum Genet 1995; 56: 1277-1286.
78. Lin JP, Bale SJ. Parental transmission and D18S37 allele sharing in bipolar affective disorder. Genet Epidemiol 1997; 14: 665-668.
79. Grigoroiu-Serbanescu M. A trial to apply the concept of genomic imprinting to the manic-depressive illness. Rom J Neurol Psychiatry 1992; 30: 265-277.
80. Kornberg JR, Brown JL, Sadovnick AD, Remick RA, Keck PEJ, McElroy SL et al. Evaluating the parent-of-origin effect in bipolar affective disorder. Is a more penetrant subtype transmitted paternally? J Affect Dis 2000; 59: 183-192.
81. Gershon ES, Badner JA, Detera-Wadleigh SD, Ferraro TN, Berrettini WH. Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar illness pedigrees. Am J Med Genet 1996; 67: 202-207.
82. Knowles JA, Rao PA, Coxmatise T, Loth JE, Dejesus GM, Levine L et al. No evidence for significant linkage between bipolar affective disorder and chromosome 18 pericentric markers in a large series of multiplex extended pedigrees. Am J Hum Genet 1998; 62: 916-924.
83. Kato MV, Shimizu T, Nagayoshi M, Kaneko A, Sasaki MS, Ikawa Y. Genomic imprinting of the human serotonin-receptor (HTR2) gene involved in development of retinoblastoma. Am J Hum Genet 1996; 59: 1084-1090.
84. Kelsoe JR, Sadovnick AD, Kristbjarnarson H, Bergesch P, Mroczkowski-Parker Z, Drennan M et al. Possible locus for bipolar disorder near the dopamine transporter on chromosome 5. Am J Med Genet 1996; 67: 533-540.
85. Hallmayer J. Chromosomes 1, 2, and 7 workshop. Am J Med Genet 1999; 88: 219-223.