Genome scan of a second wave of NIMH genetics initiative bipolar pedigrees: Chromosomes 2, 11, 13, 14, and X

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 119 B, Issue 1, 2003, Pages 69-76

  Zandi, Peter P ^a,d   Willour, Virginia L ^a   Huo, Yuqing ^a   Chellis, Jennifer ^a   Potash, James B ^a   MacKinnon, Dean F ^a   Simpson, Sylvia G ^a   McMahon, Francis J ^b   Gershon, Elliot ^b   Reich, Theodore ^c   Foroud, Tatiana ^e   Nurnberger Jr , John ^e   DePaulo Jr , J Raymond ^a   McInnis, Melvin G ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c WASHINGTON UNIVERSITY   (United States)

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

^e NONE

Author keywords

Bipolar disorder; Genome scan; Heterogeneity; Linkage

Indexed keywords

ARTICLE; BIPOLAR DISORDER; CHROMOSOME 11; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 2; CONTROLLED STUDY; FAMILY STUDY; GENE LOCUS; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SUSCEPTIBILITY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; PRIORITY JOURNAL; SCHIZOAFFECTIVE PSYCHOSIS; X CHROMOSOME;

EID: 10744226840     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.10063     Document Type: Article

References (68)

1. Baron M. 2002. Manic-depression genes and the new millennium: poised for discovery. Mol Psychiatry 7(4):342-358.
2. Baron M, Risch N, Hamburger R, Mandel B, Kushner S, Newman M, Drumer D, Belmaker RH. 1987. Genetic linkage between X-chromosome markers and bipolar affective illness. Nature 326(6110):289-292.
3. Baron M, Freimer NF, Risch N, Lerer B, Alexander JR, Straub RE, Asokan S, Das K, Peterson A, Amos J. 1993. Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees. Nat Genet 3(1):49-55.
4. Bellivier F, Schurhoff F, Nosten-Bertrand M, Mallet J, Feingold J, Leboyer M. 1998. Methodological problems in meta-analysis of association studies between bipolar affective disorders and the tyrosine hydroxylase gene. Am J Med Genet 81(4):349-352.
5. Berrettini WH. 2000. Are schizophrenic and bipolar disorders related? A review of family and molecular studies. Biol Psychiatry 48(6):531-538.
6. Berrettini WH, Goldin LR, Gelernter J, Gejman PV, Gershon ES, Detera-Wadleigh S. 1990. X-chromosome markers and manic-depressive illness. Rejection of linkage to Xq28 in nine bipolar pedigrees. Arch Gen Psychiatry 47(4):366-373.
7. Blouin JL, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist M, Ullrich G, McGrath J, Kasch L, Lamacz M, Thomas MG, Gehrig C, Radhakrishna U, Snyder SE, Balk KG, Neufeld K, Swartz KL, DeMarchi N, Papadimitriou GN, Dikeos DG, Stefanis CN, Chakravarti A, Childs B, Pulver AE. 1998. Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21. Nat Genet 20(1):70-73.
8. Broman KW, Murray JC, Sheffield VC, White RL, Weber JL. 1998. Comprehensive human genetic maps: Individual and sex-specific variation in recombination. Am J Hum Genet 63(3):861-869.
9. Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. 1993. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262(5133):578-580.
10. Brzustowicz LM, Honer WG, Chow EW, Little D, Hogan J, Hodgkinson K, Bassett AS. 1999. Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet 65(4):1096-1103.
11. Byerley W, Plaetke R, Hoff M, Jensen S, Holik J, Reimherr F, Mellon C, Wender P, O'Connell P, Leppert M. 1992. Tyrosine hydroxylase gene not linked to manic-depression in seven of eight pedigrees. Hum Hered 42(4):259-263.
12. Craddock N, Jones I. 1999. Genetics of bipolar disorder. J Med Genet 36(8):585-594.
13. Craddock N, Daniels J, Roberts E, Rees M, McGuffin P, Owen MJ. 1995. No evidence for allelic association between bipolar disorder and monoamine oxidase A gene polymorphisms. Am J Med Genet 60(4):322-324.
14. Detera-Wadleigh SD, Berrettini WH, Goldin LR, Boorman D, Anderson S, Gershon ES. 1987. Close linkage of c-Harvey-ras-1 and the insulin gene to affective disorder is ruled out in three North American pedigrees. Nature 325(6107):806-808.
15. Detera-Wadleigh SD, Badner JA, Yoshikawa T, Sanders AR, Goldin LR, Turner G, Rollins DY, Moses T, Guroff JJ, Kazuba D, Maxwell ME, Edenberg HJ, Foroud T, Lahiri D, Nurnberger JI Jr, Stine OC, McMahon F, Meyers DA, MacKinnon D, Simpson S, McInnis M, DePaulo JR, Rice J, Goate A, Gershon ES. 1997. Initial genome scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 4, 7, 9, 18, 19, 20, and 21q. Am J Med Genet 74(3):254-262.
16. Detera-Wadleigh SD, Badner JA, Berrettini WH, Yoshikawa T, Goldin LR, Turner G, Rollins DY, Moses T, Sanders AR, Karkera JD, Esterling LE, Zeng J, Ferraro TN, Guroff JJ, Kazuba D, Maxwell ME, Numberger JI Jr, Gershon ES. 1999. 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 96(10):5604-5609.
17. Dick DM, Foroud T, Edenberg HJ, Miller M, Bowman E, Rau NL, DePaulo JR, McInnis M, Gershon E, McMahon F, Rice JP, Bierut LJ, Reich T, Nurnberger J Jr. 2002. Apparent replication of suggestive linkage on chromosome 16 in the NIMH genetics initiative bipolar pedigrees. Am J Med Genet 114(4):407-412.
18. Edenberg HJ, Foroud T, Conneally PM, Sorbel JJ, Carr K, Crose C, Willig C, Zhao J, Miller M, Bowman E, Mayeda A, Rau NL, Smiley C, Rice JP, Goate A, Reich T, Stine OC, McMahon F, DePaulo JR, Meyers D, Detera-Wadleigh SD, Goldin LR, Gershon ES, Blehar MC, Nurnberger JI Jr. 1997. Initial genomic scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 3, 5, 15, 16, 17, and 22. Am J Med Genet 74(3):238-246.
19. Egeland JA, Gerhard DS, Pauls DL, Sussex JN, Kidd KK, Allen CR, Hostetter AM, Housman DE. 1987. Bipolar affective disorders linked to DNA markers on chromosome 11. Nature 325(6107):783-787.
20. Furlong RA, Ho L, Rubinsztein JS, Walsh C, Paykel ES, Rubinsztein DC. 1999. Analysis of the monoamine oxidase A (MAOA) gene in bipolar affective disorder by association studies, meta-analyses, and sequencing of the promoter. Am J Med Genet 88(4):398-406.
21. Gejman PV, Detera-Wadleigh S, Martinez MM, Berrettini WH, Goldin LR, Gelernter J, Hsieh WT, Gershon ES. 1990. Manic depressive illness not linked to factor IX region in an independent series of pedigrees. Genomics 8(4):648-655.
22. Ho LW, Furlong RA, Rubinsztein JS, Walsh C, Paykel ES, Rubinsztein DC. 2000. Genetic associations with clinical characteristics in bipolar affective disorder and recurrent unipolar depressive disorder. Am J Med Genet 96(1):36-42.
23. Hodgkinson S, Sherrington R, Gurling H, Marchbanks R, Reeders S, Mallet J, McInnis M, Petursson H, Brynjolfsson J. 1987. Molecular genetic evidence for heterogeneity in manic depression. Nature 325(6107): 805-806.
24. Kelsoe JR, Ginns EI, Egeland JA, Gerhard DS, Goldstein AM, Bale SJ, Pauls DL, Long RT, Kidd KK, Conte G. 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(6247): 238-243.
25. Kelsoe JR, Spence MA, Loetscher E, Foguet M, Sadovnick AD, Remick RA, Flodman P, Khristich J, Mroczkowski-Parker Z, Brown JL, Masser D, Ungerleider S, Rapaport MH, Wishart WL, Luebbert H. 2001. A genome survey indicates a possible susceptibility locus for bipolar disorder on chromosome 22. Proc Natl Acad Sci USA 98(2):585-590.
26. Kunugi H, Ishida S, Kato T, Tatsumi M, Sakai T, Hattori M, Hirose T, Nanko S. 1999. A functional polymorphism in the promoter region of monoamine oxidase-A gene and mood disorders. Mol Psychiatry 4(4): 393-395.
27. Lander ES, Green P. 1987. Construction of multilocus genetic linkage maps in humans. Proc Natl Acad Sci USA 84(8):2363-2367.
28. Lander E, Kruglyak L. 1995. Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat Genet 11(3):241-247.
29. Leboyer M, Malafosse A, Boularand S, Campion D, Gheysen F, Samolyk D, Henriksson B, Denise E, des LA, Lepine JP. 1990. Tyrosine hydroxylase polymorphisms associated with manic-depressive illness. Lancet 335(8699):1219.
30. Li T, Liu X, Sham PC, Aitchison KJ, Cai G, Arranz MJ, Deng H, Liu J, Kirov G, Murray RM, Collier DA. 1999. Association analysis between dopamine receptor genes and bipolar affective disorder. Psychiatry Res 86(3):193-201.
31. Liang KY, Chiu YF, Beaty TH. 2001. A robust identity-by-descent procedure using affected sib pairs: Multipoint mapping for complex diseases. Hum Hered 51(1-2):64-78.
32. Lim LC, Gurling H, Curtis D, Brynjolfsson J, Petursson H, Gill M. 1993. Linkage between tyrosine hydroxylase gene and affective disorder cannot be excluded in two of six pedigrees. Am J Med Genet 48(4):223-228.
33. Lim LC, Nothen MM, Korner J, Rietschel M, Castle D, Hunt N, Propping P, Murray R, Gill M. 1994. No evidence of association between dopamine D4 receptor variants and bipolar affective disorder. Am J Med Genet 54(3):259-263.
34. Lim LC, Powell J, Sham P, Castle D, Hunt N, Murray R, Gill M. 1995. Evidence for a genetic association between alleles of monoamine oxidase A gene and bipolar affective disorder. Am J Med Genet 60(4):325-331.
35. Lin S, Jiang S, Wu X, Qian Y, Wang D, Tang G, Gu N. 2000. Association analysis between mood disorder and monoamine oxidase gene. Am J Med Genet 96(1):12-14.
36. Lucotte G, Landoulsi A, Berriche S, David F, Babron MC. 1992. Manic depressive illness is linked to factor IX in a French pedigree. Ann Genet 35(2):93-95.
37. Malafosse A, Leboyer M, d'Amato T, Amadeo S, Abbar M, Campion D, Canseil O, Castelnau D, Gheysen F, Granger B, Henrikson B, Poirier MF, Sabate O, Samolyk D, Feingold J, Mallet J. 1997. Manic depressive illness and tyrosine hydroxylase gene: Linkage heterogeneity and association. Neurobiol Dis 4(5):337-349.
38. Meloni R, Leboyer M, Bellivier F, Barbe B, Samolyk D, Allilaire JF, Mallet J. 1995. Association of manic-depressive illness with tyrosine hydroxylase microsatellite marker. Lancet 345(8954):932.
39. Mendlewicz J, Fleiss JL. 1974. Linkage studies with X-chromosome markers in bipolar (manic-depressive) and unipolar (depressive) illnesses. Biol Psychiatry 9(3):261-294.
40. Mendlewicz J, Linkowski P, Guroff JJ, Van Praag HM. 1979. Color blindness linkage to bipolar manic-depressive illness. New evidence. Arch Gen Psychiatry 36(13):1442-1447.
41. Mendlewicz J, Linkowski P, Wilmotte J. 1980. Linkage between glucose-6-phosphate dehydrogenase deficiency and manic-depressive psychosis. Br J Psychiatry 137:337-342.
42. Mendlewicz J, Simon P, Sevy S, Charon F, Brocas H, Legros S, Vassart G. 1987. Polymorphic DNA marker on X chromosome and manic depression. Lancet 1(8544):1230-1232.
43. Muglia P, Petronis A, Mundo E, Lander S, Cate T, Kennedy JL. 2002. Dopamine D4 receptor and tyrosine hydroxylase genes in bipolar disorder: Evidence for a role of DRD4. Mol Psychiatry 7(8):860-866.
44. NIMH Genetics Initiative Bipolar Group. 1997. Genomic survey of bipolar illness in the NIMH genetics initiative pedigrees: a preliminary report. Am J Med Genet 74(3):227-237.
45. Nurnberger JI Jr, Foroud T. 2000. Genetics of bipolar affective disorder. Curr Psychiatry Rep 2(2):147-157.
46. Nurnberger JI Jr, Blehar MC, Kaufmann CA, York-Cooler C, Simpson SG, Harkavy-Friedman J, Severe JB, Malaspina D, Reich T. 1994. Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH Genetics Initiative. Arch Gen Psychiatry 51(11):849-859.
47. Oruc L, Verheyen GR, Furac I, Jakovljevic M, Ivezic S, Raeymaekers P, Van Broeckhoven C. 1997. Analysis of the tyrosine hydroxylase and dopamine D4 receptor genes in a Croatian sample of bipolar I and unipolar patients. Am J Med Genet 74(2):176-178.
48. Parsian A, Todd RD. 1997. Genetic association between monoamine oxidase and manic-depressive illness: Comparison of relative risk and haplotype relative risk data. Am J Med Genet 74(5):475-479.
49. Pekkarinen P, Terwilliger J, Bredbacka PE, Lonnqvist J, Peltonen L. 1995. Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree. Genome Res 5(2):105-115.
50. Perez dC I, Torres P, Fernandez-Piqueras J, Saiz-Ruiz J, Llinares C. 1994. No association between dopamine D4 receptor polymorphism and manic depressive illness. J Med Genet 31(11):897-898.
51. Preisig M, Bellivier F, Fenton BT, Baud P, Berney A, Courtet P, Hardy P, Golaz J, Leboyer M, Mallet J, Matthey ML, Mouthon D, Neidhart E, Nosten-Bertrand M, Stadelmann-Dubuis E, Guimon J, Ferrero F, Buresi C, Malafosse A. 2000. Association between bipolar disorder and monoamine oxidase A gene polymorphisms: results of a multicenter study. Am J Psychiatry 157(6):948-955.
52. Rice JP, Goate A, Williams JT, Bierut L, Dorr D, Wu W, Shears S, Gopalakrishnan G, Edenberg HJ, Foroud T, Nurnberger J Jr, Gershon ES, Detera-Wadleigh SD, Goldin LR, Guroff JJ, McMahon FJ, Simpson S, MacKinnon D, McInnis M, Stine OC, DePaulo JR, Blehar MC, Reich T. 1997. Initial genome scan of the NIMH genetics initiative bipolar pedigrees: Chromosomes 1, 6, 8, 10, and 12. Am J Med Genet 74(3):247-253.
53. Roberts SB, MacLean CJ, Neale MC, Eaves LJ, Kendler KS. 1999. Replication of linkage studies of complex traits: An examination of variation in location estimates. Am J Hum Genet 65(3):876-884.
54. Rubinsztein DC, Leggo J, Goodburn S, Walsh C, Jain S, Paykel ES. 1996. Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and meta-analysis. Hum Mol Genet 5(6):779-782.
55. Sasaki T, Hattori M, Sakai T, Kato T, Kunugi H, Hirose T, Nanko S. 1998. The monoamine oxidase-A gene and major psychosis in Japanese subjects. Biol Psychiatry 44(9):922-924.
56. Serretti A, Lilli R, Di Bella D, Bertelli S, Nobile M, Novelli E, Catalano M, Smeraldi E. 1999. Dopamine receptor D4 gene is not associated with major psychoses. Am J Med Genet 88(5):486-491.
57. Serretti A, Lilli R, Lorenzi C, Lattuada E, Smeraldi E. 2001. DRD4 exon 3 variants associated with delusional symptomatology in major psychoses: A study on 2,011 affected subjects. Am J Med Genet 105(3):283-290.
58. Smyth C, Kalsi G, Brynjolfsson J, O'Neill J, Curtis D, Rifkin L, Moloney E, Murphy P, Sherrington R, Petursson H, Gurling H. 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(2):271-274.
59. Smyth C, Kalsi G, Brynjolfsson J, O'Neill J, Curtis D, Rifkin L, Moloney E, Murphy P, Petursson H, Gurling H. 1997a. Test of Xq26.3-28 linkage in bipolar and unipolar affective disorder in families selected for absence of male to male transmission. Br J Psychiatry 171:578-581.
60. Smyth C, Kalsi G, Curtis D, Brynjolfsson J, O'Neill J, Rifkin L, Moloney E, Murphy P, Petursson H, Gurling H. 1997b. Two-locus admixture linkage analysis of bipolar and unipolar affective disorder supports the presence of susceptibility loci on chromosomes 11p15 and 21q22. Genomics 39(3):271-278.
61. Stine OC, Xu J, Koskela R, McMahon FJ, Gschwend M, Friddle C, Clark CD, McInnis MG, Simpson SG, Breschel TS. 1995. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet 57(6):1384-1394.
62. Stine OC, McMahon FJ, Chen L, Xu J, Meyers DA, MacKinnon DF, Simpson S, McInnis MG, Rice JP, Goate A, Reich T, Edenberg HJ, Foroud T, Nurnberger JI Jr, Detera-Wadleigh SD, Goldin LR, Guroff J, Gershon ES, Blehar MC, DePaulo JR. 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(3):263-269.
63. Turecki G, Rouleau GA, Mari J, Joober R, Morgan K. 1997. Lack of association between bipolar disorder and tyrosine hydroxylase: A metaanalysis. Am J Med Genet 74(4):348-352.
64. Turecki G, Grof P, Cavazzoni P, Duffy A, Grof E, Ahrens B, Berghofer A, Muller-Oerlinghausen B, Dvorakova M, Libigerova E, Vojtechovsky M, Zvolsky P, Joober R, Nilsson A, Prochazka H, Licht RW, Rasmussen NA, Schou M, Vestergaard P, Holzinger A, Schumann C, Thau K, Rouleau GA, Alda M. 1999. MAOA: Association and linkage studies with lithium responsive bipolar disorder. Psychiatr Genet 9(1):13-16.
65. Vallada HP, Vasques L, Curtis D, Zatz M, Kirov G, Lauriano V, Gentil V, Murray RM, McGuffin P, Owen M, Gill M, Craddock N, Collier DA. 1998. Linkage analysis between bipolar affective disorder and markers on chromosome X. Psychiatr Genet 8(3):183-186.
66. Van Tol HH, Bunzow JR, Guan HC, Sunahara RK, Seeman P, Niznik HB, Civelli O. 1991. Cloning of the gene for a human dopamine D4 receptor with high affinity for the antipsychotic clozapine. Nature 350(6319): 610-614.
67. Weiss J, Magert HJ, Cieslak A, Forssmann WG. 1996. Association between different psychotic disorders and the DRD4 polymorphism, but no differences in the main ligand binding region of the DRD4 receptor protein compared to controls. Eur J Med Res 1(9):439-445.
68. Young A. 1995. Genetic Analysis System, version 1.4. 1995. Internet: (ftp.well.ox.ac.uk).