Localization of bipolar susceptibility locus by molecular genetic analysis of the chromosome 12q23-q24 region in two pedigrees with bipolar disorder and Darier's disease

American Journal of Psychiatry

Volumn 162, Issue 1, 2005, Pages 35-42

  Green, Elaine ^b   Elvidge, Gareth ^b   Jacobsen, Nick ^b   Glaser, Beate ^b   Jones, Ian ^b   O'Donovan, Michael C ^b   Kirov, George ^b   Owen, Michael J ^b   Craddock, Nick ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIPOLAR DISORDER; CHROMOSOME 12Q; DARIER DISEASE; FEMALE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC MARKER; GENETIC SCREENING; GENETIC SUSCEPTIBILITY; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL;

BIPOLAR DISORDER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; KERATOSIS FOLLICULARIS; LINKAGE (GENETICS); MALE; MODELS, GENETIC; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC;

EID: 11844305917     PISSN: 0002953X     EISSN: None     Source Type: Journal    
DOI: 10.1176/appi.ajp.162.1.35     Document Type: Article

References (39)

1. Craddock N, Jones I: Genetics of bipolar disorder. J Med Genet 1994; 36:585-594
2. Potash JB, DePaulo JR Jr: Searching high and low: a review of the genetics of bipolar disorder. Bipolar Disord 2000; 2:8-26
3. Baron M: Manic-depression genes and the new millennium: poised for discovery. Mol Psychiatry 2002; 7:342-358
4. Bertelsen A, Harvald B, Hauge M: A Danish twin study of manic-depressive illness. Br J Psychiatry 1977; 130:330-351
5. McGuffin P, Rijsdijk F, Andrew M, Sham P, Katz R, Cardno A: The heritability of bipolar affective disorder and the genetic relationship to unipolar depression. Arch Gen Psychiatry 2003; 60: 497-502
6. McGuffin P, Katz R: The genetics of depression and manic-depressive disorder. Br J Psychiatry 1989; 155:294-304
7. Craddock N, Van Eerdewegh P, Reich T: Mathematical limits of multilocus models: the genetic transmission of bipolar disorder. Am J Med Genet 1995; 57:690-702
8. Blackwood DH, He L, Morris SW, McLean A, Whitton C, Thomson M, Walker MT, Woodburn K, Sharp CM, Wright AF, Shibasaki Y, St Clair DM, Porteous DJ, Muir WJ: A locus for bipolar affective disorder on chromosome 4p. Nat Genet 1996; 12:427-430
9. Ewald H, Flint T, Kruse TA, Mors O: A genome-wide scan shows significant linkage between bipolar disorder and chromosome 12q24.3 and suggestive linkage to chromosomes 1p22-21, 4p16, 6q14-22, 10q26 and 16p13.3. Mol Psychiatry 2002; 7: 734-744
10. Freimer NB, Reus VI, Escamilla MA, McInnes LA, Spesny M, Leon P, Service SK, Smith LB, Silva S, Rojas E, Gallegos A, Meza L, Fournier E, Baharloo S, Blankenship K, Tyler DJ, Batki S, Vinogradov S, Weissenbach J, Barondes SH, Sandkuijl LA: 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
11. Morissette J, Villeneuve A, Bordeleau L, Rochette D, Laberge C, Gagne B, Laprise C, Bouchard G, Plante M, Gobeil L, Shink E, Weissenbach J, Barden N: 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 12q23-24. Am J Med Genet Neuropsychiatr Genet 1999; 88:567-587
12. Craddock N, Owen M, Burge S, Kurian B, Thomas P, McGuffin P: Familial cosegregation of major affective disorder and Darier's disease (keratosis follicularis). Br J Psychiatry 1994; 164:355-358
13. Jones I, Jacobsen N, Green EK, Elvidge GP, Owen MJ, Craddock N: Evidence for familial cosegregation of major affective disorder and genetic markers flanking the gene for Darier's disease. Mol Psychiatry 2002; 7:424-427
14. Craddock N, Dawson E, Burge S, Parfitt L, Mant B, Roberts O, Daniels J, Gill M, McGuffin P, Powell J, Owen M: The gene for Darier's disease maps to chromosome 12q23-q24.1. Hum Mol Genet 1993; 2:1941-1943
15. Bashir R, Munro CS, Mason S, Stephenson A, Rees JL, Strachan T: Localisation of a gene for Darier's disease. Hum Mol Genet 1993; 2:1937-1939
16. Dawson E, Parfitt E, Roberts Q, Daniels J, Lim L, Sham P, Nothen M, Propping P, Lanczik M, Maier W, Reuner U, Weissenbach J, Gill M, Powell J, McGuffin P, Owen M, Craddock N: Linkage studies of bipolar disorder in the region of the Darier's disease gene on chromosome 12q23-24.1. Am J Med Genet 1995; 60:94-102
17. Ewald H, Degn B, Mors O, Kruse TA: Significant linkage between bipolar affective disorder and chromosome 12q24. Psychiatr Genet 1998; 8:131-140
18. Curtis D, Kalsi G, Brynjolfsson J, McInnis M, O'Neill J, Smyth C, Moloney E, Murphy P, McQuillin A, Petursson H, Gurling H: Genome scan of pedigrees multiply affected with bipolar disorder provides further support for the presence of a susceptibility locus on chromosome 12q23-q24, and suggests the presence of additional loci on 1p and 1q. Psychiatr Genet 2003; 13:77-84
19. Degn B, Lundorf MD, Wang A, Vang M, Mors O, Kruse TA, Ewald H: 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
20. Ekholm JM, Kieseppa T, Hiekkalinna T, Partonen T, Paunio T, Perola M, Ekelund J, Lonnqvist J, Pekkarinen-Ijas P, Peltonen L: Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder. Hum Mol Genet 2003; 12:1907-1915
21. Maziade M, Roy MA, Rouillard E, Bissonnette L, Fournier JP, Roy A, Garneau Y, Montgrain N, Potvin A, Cliche D, Dion C, Wallot H, Fournier A, Nicole L, Lavallee JC, Merette C: A search for specific and common susceptibility loci for schizophrenia and bipolar disorder: a linkage study in 13 target chromosomes. Mol Psychiatry 2001; 6:684-693
22. Zubenko GS, Maher B, Hughes HB 3rd, Zubenko WN, Stiffler JS, Kaplan BB, Marazita ML: Genome-wide linkage survey for genetic loci that influence the development of depressive disorders in families with recurrent, early-onset, major depression. Am J Med Genet 2003; 123B(1):1-18
23. Abkevich V, Camp NJ, Hensel CH, Neff CD, Russell DL, Hughes DC, Plenk AM, Lowry MR, Richards RL, Carter C, Frech GC, Stone S, Rowe K, Chau CA, Cortado K, Hunt A, Luce K, O'Neil G, Poarch J, Potter J, Poulsen GH, Saxton H, Bernat-Sestak M, Thompson V, Gutin A, Skolnick MH, Shattuck D, Cannon-Albright L: Predisposition locus for major depression at chromosome 12q22-12q23.2. Am J Hum Genet 2003; 73:1271-1281
24. + pump, cause Darier disease. Nat Genet 1999; 21:271-277
25. Jacobsen NJO, Lyons I, Hoogendoorn B, Burge S, Kwok P, O'Donovan MC, Craddock N, Owen MJ: ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Hum Mol Genet 1999; 8:1631-1636
26. Jacobsen NJ, Franks EK, Elvidge G, Jones I, McCandless F, O'Donovan MC, Owen MJ, Craddock N: Exclusion of the Darier's disease gene, ATP2A2, as a common susceptibility gene for bipolar disorder. Mol Psychiatry 2001; 6:92-97
27. Endicott J, Spitzer RL: A diagnostic interview: the Schedule for Affective Disorders and Schizophrenia. Arch Gen Psychiatry 1978; 35:837-844
28. Craddock N, McGuffin P, Owen M: Darier's disease cosegregating with affective disorder (letter). Br J Psychiatry 1994; 165: 272
29. Wing JK, Babor T, Brugha T, Burke J, Cooper JE, Giel R, Jablenski A, Regier D, Sartorius N: SCAN: Schedules for Clinical Assessment in Neuropsychiatry. Arch Gen Psychiatry 1990; 47:589-593
30. Sobel E, Lange K: Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 1996; 58:1323-1337
31. 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
32. Jones A, Austin JA, Hansen N, Oefner PJ, Hoogendoorn B, Cheadle JP, O'Donovan MC: Automated optimal temperature selection for denaturing high performance liquid chromatography. Clin Chem 1999; 45:1133-1140
33. Nickerson DA, Tobe VO, Taylor SL: PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 1997; 25:2745-2751
34. Afshar-Kharghan V, Diz-Kucukkaya R, Ludwig EH, Marian AJ, Lopez JA: Human polymorphism of P-selectin glycoprotein ligand 1 attributable to variable number of tandem decameric repeats in the mucinlike region. Blood 2001; 97:3306-3307
35. Detera-Wadleigh SD, Barden N, Craddock N, Ewald H, Foroud T, Kelsoe J, McQuillin A: Chromosomes 12 and 16 workshop. Am J Med Genet Neuropsychiatr Genet 1999; 88:255-259
36. Roberts SB, MacLean CJ, Neale MC, Eaves LJ, Kendler KS: Replication of linkage studies of complex traits: an examination of variation in location estimates. Am J Hum Genet 1999; 65:876-884
37. Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI Jr, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, et al: Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: bipolar disorder. Am J Hum Genet 2003; 73:49-62
38. Talbot CJ, Radcliffe RA, Fullerton J, Hitzemann R, Wehner JM, Flint J: Fine scale mapping of a genetic locus for conditioned fear. Mamm Genome 2003; 14:223-230
39. Oefner PJ, Underhill PA: DNA Mutation Detection Using Denaturing High-Performance Liquid Chromatography (DHPLC): Current Protocols in Human Genetics Supplement 19. New York, Wiley & Sons, 1998, pp 7.10.1-7.10.12