Replication of linkage with bipolar disorder on chromosome 16p in the Eastern Quebec population

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 147, Issue 6, 2008, Pages 737-744

  Mérette, Chantal ^a,b   Roy, Marc André ^a,b   Bureau, Alexandre ^a,b   Fournier, Alain ^b   Émond, Claudia ^b   Cliche, Denis ^b   Jomphe, Valérie ^b   Chagnon, Yvon C ^a,b   Maziade, Michel ^a,b  

^a UNIVERSITÉ LAVAL   (Canada)

^b CENTRE DE RECHERCHE DE L INSTITUT UNIVERSITAIRE EN SANTÉ MENTALE DE QUÉBEC   (Canada)

Author keywords

Bipolar disorder; Linkage analysis; Phenotype refinement; Replication

Indexed keywords

DNA;

ARTICLE; BIPOLAR DISORDER; CANADA; CHROMOSOME 16P; FAMILY STUDY; GENETIC LINKAGE; GENETIC MARKER; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MENTAL DISEASE; PHENOTYPE; POPULATION GENETICS; PRIORITY JOURNAL;

BIPOLAR DISORDER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; FAMILY; GENETIC PREDISPOSITION TO DISEASE; GENETICS, POPULATION; HUMANS; LINKAGE (GENETICS); MARKOV CHAINS; MICROSATELLITE REPEATS; PENETRANCE; QUEBEC; SCHIZOPHRENIA;

EID: 51449116536     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30673     Document Type: Article

References (46)

1. Abecasis GR, Cherny SS, Cookson WO, Cardon LR. 2002. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30:97-101.
2. Berrettini W. 2003a. Bipolar disorder and schizophrenia: Not so distant relatives? World Psychiatry 2:68-72.
3. Berrettini W. 2003b. Evidence for shared susceptibility in bipolar disorder and schizophrenia. Am J Med Genet Part C 123C:59-64.
4. Cantor RM, Kono N, Duvall JA, Alvarez-Retuerto A, Stone JL, Alarcon M, Nelson SF, Geschwind DH. 2005. Replication of autism linkage: Fine-mapping peak at 17q21. Am J Hum Genet 76:1050-1056.
5. Chagnon YC, Roy S, Chagnon M, Lacaille M, Leblanc C, Bouchard C. 1998. High-throughput genotyping using infrared automatic LI-COR DNA sequencers in the study of the obesity and co-morbidities genes. Lincoln, Nebraska, USA: LiCor. Report nr500. 5 p.
6. Cheng R, Juo SH, Loth JE, Nee J, Iossifov I, Blumenthal R, Sharpe L, Kanyas K, Lerer B, Lilliston B, Smith M, Trautman K, Gilliam TC, Endicott J, Baron M. 2006. Genome-wide linkage scan in a large bipolar disorder sample from the National Institute of Mental Health genetics initiative suggests putative loci for bipolar disorder, psychosis, suicide, and panic disorder. Mol Psychiatry 11:252-260.
7. Chin H, Choi SH, Jang YS, Cho SM, Kim HS, Lee JH, Jeong SW, Kim IK, Kim GJ, Kwon O J. 2006. Protein kinase A-dependent phosphorylation of B/K protein. Exp Mol Med 38:144-152.
8. Cichon S, Schumacher J, Muller DJ, Hurter M, Windemuth C, Strauch K, Hemmer S, Schulze TG, Schmidt-Wolf G, Albus M, Borrmann-Hassenbach M, Franzek E, Lanczik M, Fritze J, Kreiner R, Reuner U, Weigelt B, Minges J, Lichtermann D, Lerer B, Kanyas K, Baur MP, Wienker TF, Maier W, Rietschel M, Propping P, Nothen MM. 2001. A genome screen for genes predisposing to bipolar affective disorder detects a new susceptibility locus on 8q. Hum Mol Genet 10:2933-2944.
9. Craddock N, O'Donovan MC, Owen MJ. 2005. The genetics of schizophrenia and bipolar disorder: Dissecting psychosis. J Med Genet 42:193-204.
10. Craddock N, O'Donovan MC, Owen MJ. 2006. Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology. Schizophr Bull 32:9-16.
11. Crow TJ. 2007. How and why genetic linkage has not solved the problem of psychosis: Review and hypothesis. Am J Psychiatry 164:13-21.
12. DeLisi LE, Faraone SV. 2006. When is a "positive" association truly a "positive" in psychiatric genetics? A commentary based on issues debated at the World Congress of Psychiatric Genetics, Boston, October 12-18, 2005. Am J Med Genet Part B 141B:319-322.
13. 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 114:407-412.
14. 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 3,5,15,16,17,22. Am J Med Genet (Neuropsychiatr Genet) 74:238-246.
15. Ekholm JM, Kieseppa T, Hiekkalinna T, Partonen T, Paunio T, Perola M, Ekelund J, Lonnqvist J, Pekkarinen-Ijas P, Peltonen L. 2003. Evidence of susceptibility loci on 4q32 and 16p12 for bipolar disorder. Hum Mol Genet 12:1907-1915.
16. Ewald H, Flint T, Kruse TA, Mors O. 2002. 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 7:734-744.
17. Faraone SV, Tsuang MT. 2003. Heterogeneity and the genetics of bipolar disorder. Am J Med Genet Part C 123C:1-9.
18. Fernandez-Chacon R, Konigstorfer A, Gerber SH, Garcia J, Matos MF, Stevens CF, Brose N, Rizo J, Rosenmund C, Sudhof TC. 2001. Synaptotagmin I functions as a calcium regulator of release probability. Nature 410:41-49.
19. Foroud T, Castelluccio PF, Koller DL, Edenberg HJ, Miller M, Bowman E, Rau NL, Smiley C, Rice JP, Goate A, Armstrong C, Bierut LJ, Reich T, Detera-Wadleigh SD, Goldin LR, Badner JA, Guroff JJ, Gershon ES, McMahon FJ, Simpson S, MacKinnon D, McInnis M, Stine OC, DePaulo JR, Blehar MC, Nurnberger JI Jr. 2000. Suggestive evidence of a locus on chromosome 10p using the NIMH genetics initiative bipolar affective disorder pedigrees. Am J Med Genet 96:18-23.
20. Goes FS, Zandi PP, Miao K, McMahon FJ, Steele J, Willour VL, Mackinnon DF, Mondimore FM, Schweizer B, Nurnberger JI Jr, Rice JP, Scheftner W, Coryell W, Berrettini WH, Kelsoe JR, Byerley W, Murphy DL, Gershon ES, Bipolar Disorder Phenome Group, Depaulo JR Jr, McInnis MG, Potash JB. 2007. Mood-incongruent psychotic features in bipolar disorder: Familial aggregation and suggestive linkage to 2p11-q14 and 13q 21-33. Am J Psychiatry 164:236-247.
21. Itokawa M, Yamada K, Iwayama-Shigeno Y, Ishitsuka Y, Detera-Wadleigh S, Yoshikawa T. 2003a. Genetic analysis of a functional GRIN2A promoter (GT)n repeat in bipolar disorder pedigrees in humans. Neurosci Lett 345:53-56.
22. Itokawa M, Yamada K, Yoshitsugu K, Toyota T, Suga T, Ohba H, Watanabe A, Hattori E, Shimizu H, Kumakura T, Ebihara M, Meerabux JM, Toru M, Yoshikawa T. 2003b. A microsatellite repeat in the promoter of the N-methyl-D-aspartate receptor 2A subunit (GRIN2A) gene suppresses transcriptional activity and correlates with chronic outcome in schizophrenia. Pharmacogenetics 13:271-278.
23. Iwayama-Shigeno Y, Yamada K, Itokawa M, Toyota T, Meerabux JM, Minabe Y, Mori N, Inada T, Yoshikawa T. 2005. Extended analyses support the association of a functional (GT)n polymorphism in the GRIN2A promoter with Japanese schizophrenia. Neurosci Lett 378:102-105.
24. Lander E, Kruglyak L. 1995. Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247.
25. Lathrop GM, Lalouel JM, Julier C, Ott J. 1984. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci USA 81:3443-3446.
26. Maier W, Zobel A, Wagner M. 2006. Schizophrenia and bipolar disorder: Differences and overlaps. Curr Opin Psychiatry 19:165-170.
27. Maziade M, Roy M-A, Fournier J-P, Cliche D, Mérette C, Caron C, Garneau Y, Montgrain N, Shriqui C, Dion C, Nicole L, Potvin A, Lavallée J-C, Pirès A, Raymond V. 1992. Reliability of best-estimate diagnosis in genetic linkage studies of major psychoses: Results from the Québec pedigree studies. Am J Psychiatry 149:1674-1686.
28. Maziade M, Fournier A, Phaneuf D, Cliche D, Fournier JP, Roy MA, Merette C. 2002. Chromosome 1q12-q22 linkage results in eastern Quebec families affected by schizophrenia. Am J Med Genet 114:51-55.
29. Maziade M, Roy MA, Chagnon YC, Cliche D, Fournier JP, Montgrain N, Dion C, Lavallee JC, Garneau Y, Gingras N, Nicole L, Pires A, Ponton AM, Potvin A, Wallot H, Merette C. 2005. Shared and specific susceptibility loci for schizophrenia and bipolar disorder: A dense genome scan in Eastern Quebec families. Mol Psychiatry 10:486-499.
30. Mclnnes LA, Escamilla MA, Service SK, Reus VI, Leon P, Silva S, Rojas E, Spesny M, Baharloo S, Blankenship K, Peterson A, Tyler D, Shimayoshi N, Tobey C, Batki S, Vinogradov S, Meza L, Gallegos A, Fournier E, Smith LB, Barondes SH, Sandkuijl LA, Freimer NB. 1996. A complete genome screen for genes predisposing to severe bipolar disorder in two Costa Rican pedigrees. Proc Natl Acad Sci USA 93:13060-13065.
31. McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, Sklar P, Smoller JW, Abou Jamra R, Albus M, Bacanu SA, Baron M, Barrett TB, Berrettini W, Blacker D, Byerley W, Cichon S, Coryell W, Craddock N, Daly MJ, Depaulo JR, Edenberg HJ, Foroud T, Gill M, Gilliam TC, Hamshere M, Jones I, Jones L, Juo SH, Kelsoe JR, Lambert D, Lange C, Lerer B, Liu J, Maier W, Mackinnon JD, McInnis MG, McMahon F, Murphy DL, Nothen MM, Nurnberger JI, Pato CN, Pato MT, Potash JB, Propping P, Pulver AE, Rice JP, Rietschel M, Scheftner W, Schumacher J, Segurado R, Van Steen K, Xie W, Zandi PP, Laird NM. 2005. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and Sq. Am J Hum Genet 77:582-595.
32. Middleton FA, Pato MT, Gentile KL, Morley CP, Zhao X, Eisener AF, Brown A, Petryshen TL, Kirby AN, Medeiros H, Carvalho C, Macedo A, Dourado A, Coelho I, Valente J, Soares MJ, Ferreira CP, Lei M, Azevedo MH, Kennedy JL, Daly MJ, Sklar P, Pato CN. 2004. Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: A comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22. Am J Hum Genet 74:886-897.
33. Mukhopadhyay N, Almasy L, Schroeder M, Mulvihill WP, Weeks DE. 2005. Mega2: Data-handling for facilitating genetic linkage and association analyses. Bioinformatics 21:2556-2557.
34. O'Connell JR, Weeks DE. 1998. PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63:259-266.
35. Ott J. 1999. Analysis of human genetic linkage. Baltimore: Johns Hopkins University Press.
36. Roy MA, Lanctôt G, Mérette C, Cliche D, Fournier J-P, Boutin P, Rodrigue C, Charron L, Turgeon M, Hamel M, Montgrain N, Nicole L, Pirès A, Wallot H, Ponton AM, Garneau Y, Dion C, Lavallée JC, Potvin A, Szatmari P, Maziade M. 1997. Clinical and methodological factors related to reliability of the best-estimate diagnostic procedure. Am J Psychiatry 154:1726-1733.
37. Savitz J, Cupido CL, Ramesar RK. 2007. Preliminary evidence for linkage to chromosome 1q31-32, 10q23.3, and 16p13.3 in a South African cohort with bipolar disorder. Am J Med Genet Part B (Neuropsychiatr Genet) 144B:383-387.
38. Schaffer AA. 1996. Faster linkage analysis computations for pedigrees with loops or unused alleles. Hum Hered 46:226-235.
39. Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JIJ, Craddock N, DePaulo JR, Baron M, Gershon ES, Ekholm J, Cichon S, Turecki G, Claes S, Kelsoe JR, Schofield PR, Badenhop RF, Morissette J, Coon H, Blackwood D, McInnes LA, Foroud T, Edenberg HJ, Reich T, Rice JP, Goate A, McInnis MG, McMahon FJ, Badner JA, Goldin LR, Bennett P, Willour VL, Zandi PP, Liu J, Gilliam C, Juo SH, Berrettini WH, Yoshikawa T, Peltonen L, Lonnqvist J, Nothen MM, Schumacher J, Windemuth C, Rietschel M, Propping P, Maier W, Alda M, Grof P, Rouleau GA, Del-Favero J, Van Broeckhoven C, Mendlewicz J, Adolfsson R, Spence MA, Luebbert H, Adams LJ, Donald JA, Mitchell PB, Barden N, Shink E, Byerley W, Muir W, Visscher PM, Macgregor S, Gurling H, Kalsi G, McQuillin A, Escamilla MA, Reus VI, Leon P, Freimer NB, Ewald H, Kruse TA, Mors O, Radhakrishna U, Blouin JL, Antonarakis SE, Akarsu N. 2003. Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet 73:49-62.
40. Service S, Molina J, Deyoung J, Jawaheer D, Aldana I, Vu T, Bejarano J, Fournier E, Ramirez M, Mathews CA, Davanzo P, Macaya G, Sandkuijl L, Sabatti C, Reus V, Freimer N. 2006. Results of a SNP genome screen in a large Costa Rican pedigree segregating for severe bipolar disorder. Am J Med Genet Part B 141B:367-373.
41. Sklar P. 2002. Linkage analysis in psychiatric disorders: The emerging picture. Annu Rev Genomics Hum Genet 3:371-413.
42. Sobel E, Lange K. 1996. Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 58:1323-1337.
43. Sobel E, Sengul H, Weeks DE. 2001. Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees. Hum Hered 52:121-131.
44. Tang J, Chen X, Xu X, Wu R, Zhao J, Hu Z, Xia K. 2006. Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia. Neurosci Lett 409:80-82.
45. Vieland VJ. 2001. The replication requirement. Nat Genet 29:244-245.
46. Zhao X, Li H, Shi Y, Tang R, Chen W, Liu J, Feng G, Shi J, Yan L, Liu H, He L. 2006. Significant association between the genetic variations in the 5′ end of the N-methyl-D-aspartate receptor subunit gene GRIN1 and schizophrenia. Biol Psychiatry 59:747-753.