Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene

Genetics in Medicine

Volumn 9, Issue 11, 2007, Pages 745-751

  Avramopoulos, Dimitrios ^a,b   Lasseter, Virginia K ^a   Fallin, M Daniele ^a,c   Wolyniec, Paula S ^a   McGrath, John A ^a   Nestadt, Gerald ^a   Valle, David ^b   Pulver, Ann E ^a,b  

^a Department of Psychiatry and Behavioral Sciences ^*  (United States)

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

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

Author keywords

Bipolar disorder; Chromosome mapping; Chromosomes; Genes; Glutamate receptors; Human; Linkage disequilibrium; Pair 12; Polymorphism (genetics)

Indexed keywords

GLUTAMATE RECEPTOR 2; GLUTAMATE RECEPTOR 2B; UNCLASSIFIED DRUG;

ARTICLE; BIPOLAR DISORDER; CHROMOSOME 12P; CONTROLLED STUDY; FOLLOW UP; GENE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC CODE; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SCREENING; GENOTYPE; GRIN2B GENE; HUMAN; JEW; MAJOR CLINICAL STUDY;

BIPOLAR DISORDER; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; GENETIC HETEROGENEITY; HUMANS; JEWS; LINKAGE (GENETICS); RECEPTORS, N-METHYL-D-ASPARTATE;

EID: 36248987797     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318159a37c     Document Type: Article

References (45)

1. Smoller JW, Finn CT. Family, twin, and adoption studies of bipolar disorder. Am J Med Genet C Semin Med Genet 2003;123:48-58.
2. Craddock N, Jones I. Genetics of bipolar disorder. J Med Genet 1999;36:585-594.
3. Blackwood DH, He L, Morris SW, McLean A, et al. A locus for bipolar affective disorder on chromosome 4p. Nat Genet 1996;12:427-430.
4. Detera-Wadleigh SD, Badner JA, Berrettini WH, Yoshikawa T, 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.
5. Morissette J, Villeneuve A, Bordeleau L, Rochette D, 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.
6. Dick DM, Foroud T, Flury L, Bowman ES, et al. Genome-wide linkage analyses of bipolar disorder: a new sample of 250 pedigrees from the National Institute of Mental Health Genetics Initiative. Am J Hum Genet 2003;73:107-114.
7. McInnis MG, Dick DM, Willour VL, Avramopoulos D, et al. Genome-wide scan and conditional analysis in bipolar disorder: evidence for genomic interaction in the National Institute of Mental Health genetics initiative bipolar pedigrees. Biol Psychiatry 2003;54:1265-1273.
8. McInnis MG, Lan TH, Willour VL, McMahon FJ, et al. Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12. Mol Psychiatry 2003;8:288-298.
9. Middleton FA, Pato MT, Gentile KL, Morley CP, et al. 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 2004;74:886-897.
10. Sklar P, Pato MT, Kirby A, Petryshen TL, et al. Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis. Mol Psychiatry 2004;9:213-218.
11. Badner JA, Gershon ES. Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia. Mol Psychiatry 2002;7:405-411.
12. McQueen MB, Devlin B, Faraone SV, Nimgaonkar VL, et al. Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet 2005;77:582-595.
13. Segurado R, Detera-Wadleigh SD, Levinson DF, Lewis CM, et al. Genome scan meta-analysis of schizophrenia and bipolar disorder, Part 3: Bipolar disorder. Am J Hum Genet 2003;73:49-62.
14. Ekelund J, Lichtermann D, Hovatta I, Ellonen P, et al. Genome-wide scan for schizophrenia in the Finnish population: evidence for a locus on chromosome 7q22. Hum Mol Genet 2000;9:1049-1057.
15. McKusick VA. Genetic studies in American inbred populations with particular reference to the Old Order Amish. Isr J Med Sci 1973;9:1276-1284.
16. Fallin MD, Lasseter VK, Wolyniec PS, McGrath JA, et al. Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families. Am J Hum Genet 2004;75:204-219.
17. Fallin MD, Lasseter VK, Avramopoulos D, Nicodemus KK, et al. Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet 2005;77:918-936.
18. Guo X, Elston RC. One-stage versus two-stage strategies for genome scans. Adv Genet 2001;42:459-471.
19. Kong X, Murphy K, Raj T, He C, et al. A combined linkage-physical map of the human genome. Am J Hum Genet 2004;75:1143-1148.
20. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 1998;63:259-266.
21. 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.
22. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995;11:241-247.
23. Martucci L, Wong AH, De Luca V, Likhodi O, et al. N-methyl-d-aspartate receptor NR2B subunit gene GRIN2B in schizophrenia and bipolar disorder: polymorphisms and mRNA levels. Schizophr Res 2006;84:214-221.
24. Li D, He L. Association study between the NMDA receptor 2B subunit gene (GRIN2B) and schizophrenia: a HuGE review and meta-analysis. Genet Med 2007;9:4-8.
25. Lange C, Silverman EK, Xu X, Weiss ST, et al. A multivariate family-based association test using generalized estimating equations: FBAT-GEE. Biostatistics 2003;4:195-206.
26. Li C, Scott LJ, Boehnke M. Assessing whether an allele can account in part for a linkage signal: the Genotype-IBD Sharing Test (GIST). Am J Hum Genet 2004;74:418-431.
27. Riley BP, Tahir E, Rajagopalan S, Mogudi-Carter M, et al. A linkage study of the N-methyl-D-aspartate receptor subunit gene loci and schizophrenia in southern African Bantu-speaking families. Psychiatr Genet 1997;7:57-74.
28. Faraone SV, Glatt SJ, Su J, Tsuang MT. Three potential susceptibility loci shown by a genome-wide scan for regions influencing the age at onset of mania. Am J Psychiatry 2004;161:625-630.
29. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-768.
30. Baum AE, Akula N, Cabanero M, Cardona I, et al. A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry 2007. Epub ahead of print.
31. Shifman S, Kuypers J, Kokoris M, Yakir B, et al. Linkage disequilibrium patterns of the human genome across populations. Hum Mol Genet 2003;12:771-776.
32. Monyer H, Sprengel R, Schoepfer R, Herb A, et al. Heteromeric NMDA receptors: molecular and functional distinction of subtypes. Science 1992;256:1217-1221.
33. Yamakura T, Shimoji K. Subunit- and site-specific pharmacology of the NMDA receptor channel. Prog Neurobiol 1999;59:279-298.
34. Halberstadt AL. The phencyclidine-glutamate model of schizophrenia. Clin Neuropharmacol 1995;18:237-249.
35. Malhotra AK, Pinals DA, Weingartner H, Sirocco K, et al. NMDA receptor function and human cognition: the effects of ketamine in healthy volunteers. Neuropsychopharmacology 1996;14:301-307.
36. Akbarian S, Sucher NJ, Bradley D, Tafazzoli A, et al. Selective alterations in gene expression for NMDA receptor subunits in prefrontal cortex of schizophrenics. J Neurosci 1996;16:19-30.
37. Grimwood S, Slater P, Deakin JF, Hutson PH. NR2B-containing NMDA receptors are up-regulated in temporal cortex in schizophrenia. Neuroreport 1999;10:461-465.
38. Meshul CK, Bunker GL, Mason JN, Allen C, et al. Effects of subchronic clozapine and haloperidol on striatal glutamatergic synapses. J Neurochem 1996;67:1965-1973.
39. Di Maria E, Gulli R, Begni S, De Luca A, et al. Variations in the NMDA receptor subunit 2B gene (GRIN2B) and schizophrenia: a case-control study. Am J Med Genet B Neuropsychiatr Genet 2004;128:27-29.
40. Miyatake R, Furukawa A, Suwaki H. Identification of a novel variant of the human NR2B gene promoter region and its possible association with schizophrenia. Mol Psychiatry 2002;7:1101-1106.
41. Ohtsuki T, Sakurai K, Dou H, Toru M, et al. Mutation analysis of the NMDAR2B (GRIN2B) gene in schizophrenia. Mol Psychiatry 2001;6:211-216.
42. Chiu HJ, Wang YC, Liou YJ, Lai IC, et al. Association analysis of the genetic variants of the N-methyl D-aspartate receptor subunit 2b (NR2b) and treatment-refractory schizophrenia in the Chinese. Neuropsychobiology 2003;47:178-181.
43. Hong CJ, Yu YW, Lin CH, Cheng CY, et al. Association analysis for NMDA receptor subunit 2B (GRIN2B) genetic variants and psychopathology and clozapine response in schizophrenia. Psychiatr Genet 2001;11:219-222.
44. Hashimoto R, Hough C, Nakazawa T, Yamamoto T, et al. Lithium protection against glutamate excitotoxicity in rat cerebral cortical neurons: involvement of NMDA receptor inhibition possibly by decreasing NR2B tyrosine phosphorylation. J Neurochem 2002;80:589-597.
45. Craddock N, O'Donovan MC, Owen MJ. Genes for schizophrenia and bipolar disorder? Implications for psychiatric nosology. Schizophr Bull 2006;32:9-16.