Neuregulin 1 and Susceptibility to Schizophrenia

The American Journal of Human Genetics - Tập 71 Số 4 - Trang 877-892 - 2002
Hreinn Stefánsson1, Hannes Pétursson2, Engilbert Sigurðsson3, Valgerður Steinthórsdóttir2, Soley Bjornsdottir2, Thordur Sigmundsson3, Shyamali Ghosh2, Jon Brynjolfsson3, Steinunn Gunnarsdottir2, Omar Ivarsson3, Thomas T. Chou2, Ómar Hjaltason3, Birgitta Birgisdottir2, Helgi Jónsson3, Vala G Gudnadottir2, Elsa Gudmundsdottir4, Ásgeir Björnsson2, Brynjolfur Ingvarsson4, Andrés Ingason2, Sigmundur Sigfússon4, Hrönn Harðardóttir3, Richard P. Harvey5,6, Donna Lai6, Mingdong Zhou7, Daniela Brunner8, Vincent Mutel9, Acuna Gonzalo9, Greg Lemke10, Jesús Sainz2, G Jóhannesson2, Þorkell Andrésson2, Daníel F. Guðbjartsson2, Andrei Manolescu2, Michael L. Frigge2, Mark E. Gurney2, Augustine Kong2, Jeffrey R. Gulcher2, Kāri Stefánsson2
1deCODE Genetics, Reykjavik, Iceland. [email protected]
2deCODE Genetics, National University Hospital, Reykjavík
3Department of Psychiatry, National University Hospital, Reykjavík
4Department of Psychiatry, Akureyri Hospital, Akureyri, Iceland
5Faculties of Medicine and Life Sciences, University of New South Wales, Sydney
6Victor Chang Cardiac Research Institute, Sydney
7Zensun Sci & Tech, Shanghai
8PsychoGenics, New York
9F. Hoffmann-La Roche, Basel, Switzerland
10Molecular Neurobiology Laboratory, Salk Institute for Biological Studies, La Jolla, CA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Bilder, 1996, Neuropsychology and neurophysiology in schizophrenia, Curr Opin Psychiatry, 9, 57, 10.1097/00001504-199601000-00011

Blouin, 1998, Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21, Nat Genet, 20, 70, 10.1038/1734

Braff, 1990, Sensorimotor gating and schizophrenia: human and animal model studies, Arch Gen Psychiatry, 47, 181, 10.1001/archpsyc.1990.01810140081011

Brzustowicz, 1999, Linkage of familial schizophrenia to chromosome 13q32, Am J Hum Genet, 65, 1096, 10.1086/302579

Cameron, 2001, β-Neuregulin-1 is required for the in vivo development of functional Ca2+-activated K+ channels in parasympathetic neurons, Proc Natl Acad Sci USA, 98, 2832, 10.1073/pnas.041394098

Cardno, 1999, Heritability estimates for psychotic disorders: the Maudsley twin psychosis series, Arch Gen Psychiatry, 56, 162, 10.1001/archpsyc.56.2.162

Carlsson, 1990, Interactions between glutamatergic and monoaminergic systems within the basal ganglia—implications for schizophrenia and Parkinson's disease, Trends Neurosci, 13, 272, 10.1016/0166-2236(90)90108-M

Chen, 1999, Fluorescence polarization in homogeneous nucleic acid analysis, Genome Res, 9, 492, 10.1101/gr.9.5.492

Chu, 1995, Regulation of the acetylcholine receptor subunit gene by recombinant ARIA: an in vitro model for transynaptic gene regulation, Neuron, 14, 329, 10.1016/0896-6273(95)90289-9

Clayton, 1999, Transmission/disequilibrium tests for extended marker haplotypes, Am J Hum Genet, 65, 1161, 10.1086/302566

Creese, 1976, Dopamine receptor binding predicts clinical and pharmacological potencies of antischizophrenic drugs, Science, 192, 481, 10.1126/science.3854

Dempster, 1977, Maximum likelihood from incomplete data via the EM algorithm, J R Stat Soc B, 39, 1

Drysdale, 2000, Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness, Proc Natl Acad Sci USA, 97, 10483, 10.1073/pnas.97.19.10483

Erickson, 1997, ErbB3 is required for normal cerebellar and cardiac development: a comparison with ErbB2-and heregulin-deficient mice, Development, 124, 4999, 10.1242/dev.124.24.4999

Excoffier, 1995, Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population, Mol Biol Evol, 12, 921

Fischbach, 1997, ARIA: a neuromuscular junction neuregulin, Annu Rev Neurosci, 20, 429, 10.1146/annurev.neuro.20.1.429

Freedman, 1995, Evidence in postmortem brain tissue for decreased numbers of hippocampal nicotinic receptors in schizophrenia, Biol Psychiatry, 38, 22, 10.1016/0006-3223(94)00252-X

Gao, 2000, Ionotropic glutamate receptors and expression of N-methyl-D-aspartate receptor subunits in subregions of human hippocampus: effects of schizophrenia, Am J Psychiatry, 157, 1141, 10.1176/appi.ajp.157.7.1141

Garcia, 2000, The neuregulin receptor ErbB-4 interacts with PDZ-containing proteins at neuronal synapses, Proc Natl Acad Sci USA, 97, 3596, 10.1073/pnas.97.7.3596

Gassmann, 1995, Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor, Nature, 378, 390, 10.1038/378390a0

Gerber, 2001, Hyperactivity, elevated dopaminergic transmission, and response to amphetamine in M1 muscarinic acetylcholine receptor-deficient mice, Proc Natl Acad Sci USA, 98, 15312, 10.1073/pnas.261583798

Gerlai, 2000, Heregulin, but not ErbB2 or ErbB3, heterozygous mutant mice exhibit hyperactivity in multiple behavioral tasks, Behav Brain Res, 109, 219, 10.1016/S0166-4328(99)00175-8

Glickstein, 2001, Dopamine receptor functions: lessions from knockout mice, Pharmacol Ther, 91, 63, 10.1016/S0163-7258(01)00145-0

Goff, 2001, The emerging role of glutamate in the pathophysiology and treatment of schizophrenia, Am J Psychiatry, 158, 1367, 10.1176/appi.ajp.158.9.1367

Goring, 2001, Large upward bias in estimation of locus-specific effects from genomewide scans, Am J Hum Genet, 69, 1357, 10.1086/324471

Gretarsdottir, 2002, Localization of a susceptibility gene for common forms of stroke to 5q12, Am J Hum Genet, 70, 593, 10.1086/339252

Gudbjartsson, 2000, Allegro, a new computer program for multipoint linkage analysis, Nat Genet, 25, 12, 10.1038/75514

Gulcher, 2000, Protection of privacy by third-party encryption in genetic research in Iceland, Eur J Hum Genet, 8, 739, 10.1038/sj.ejhg.5200530

Gurling, 2001, 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, 68, 661, 10.1086/318788

Hawley, 1995, HAPLO: a program using the EM algorithm to estimate the frequencies of multi-site haplotypes, J Hered, 86, 409, 10.1093/oxfordjournals.jhered.a111613

Holt, 1999, Evidence for a deficit in cholinergic interneurons in the striatum in schizophrenia, Neuroscience, 94, 21, 10.1016/S0306-4522(99)00279-1

Horikawa, 2000, Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus, Nature Genet, 26, 163, 10.1038/79876

Huang, 2000, Regulation of neuregulin signaling by PSD-95 interacting with ErbB4 at CNS synapses, Neuron, 26, 443, 10.1016/S0896-6273(00)81176-9

Ibrahim, 2000, Ionotropic glutamate receptor binding and subunit mRNA expression in thalamic nuclei in schizophrenia, Am J Psychiatry, 157, 1811, 10.1176/appi.ajp.157.11.1811

Kaufmann, 1998, NIMH Genetics Initiative Millenium Schizophrenia Consortium: linkage analysis of African-American pedigrees, Am J Med Genet, 81, 282, 10.1002/(SICI)1096-8628(19980710)81:4<282::AID-AJMG2>3.0.CO;2-W

Kendler, 1996, Evidence for a schizophrenia vulnerability locus on chromosome 8p in the Irish Study of High-Density Schizophrenia Families, Am J Psychiatry, 153, 1534, 10.1176/ajp.153.12.1534

Kong, 1997, Allele-sharing models: LOD scores and accurate linkage tests, Am J Hum Genet, 61, 1179, 10.1086/301592

Kong, 2002, A high-resolution recombination map of the human genome, Nat Genet, 31, 241, 10.1038/ng917

Kruglyak, 1996, Parametric and nonparametric linkage analysis: a unified multipoint approach, Am J Hum Genet, 58, 1347

Lau, 1995, Differential tyrosine phosphorylation of N-methyl-D-aspartate receptor subunits, J Biol Chem, 270, 20036, 10.1074/jbc.270.34.20036

Levinson, 1996, Additional support for schizophrenia linkage on chromosomes 6 and 8: a multicenter study, Am J Med Genet, 67, 580, 10.1002/(SICI)1096-8628(19961122)67:6<580::AID-AJMG11>3.0.CO;2-P

Liddle, 1994, Syndromes of schizophrenia: classic literature, Br J Psychiatry, 165, 721, 10.1192/bjp.165.6.721

Liu, 1998, Domain-specific gene disruption reveals critical regulation of neuregulin signaling by its cytoplasmic tail, Proc Natl Acad Sci USA, 95, 13024, 10.1073/pnas.95.22.13024

Long, 1995, An E-M algorithm and testing strategy for multiple-locus haplotypes, Am J Hum Genet, 56, 799

Mohn, 1999, Mice with reduced NMDA receptor expression display behaviors related to schizophrenia, Cell, 98, 427, 10.1016/S0092-8674(00)81972-8

O'Donovan, 1999, Candidate-gene association studies of schizophrenia, Am J Hum Genet, 65, 587, 10.1086/302560

O'Neill, 1999, Comparison of dopamine receptor antagonists on hyperlocomotion induced by cocaine, amphetamine, MK-801 and the dopamine D1 agonist C-APB in mice, Psychopharmacology, 145, 237, 10.1007/s002130051055

Ozaki, 1997, Neuregulin-beta induces expression of an NMDA-receptor subunit, Nature, 390, 691, 10.1038/37795

Pulver, 1995, Schizophrenia: a genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes, Am J Med Genet, 60, 252, 10.1002/ajmg.1320600316

Risch, 1990, Linkage strategies for genetically complex traits. I. Multilocus models, Am J Hum Genet, 46, 222

Shaw, 1998, A genome-wide search for schizophrenia susceptibility genes, Am J Med Genet, 81, 364, 10.1002/(SICI)1096-8628(19980907)81:5<364::AID-AJMG4>3.0.CO;2-T

Spielman, 1993, Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM), Am J Hum Genet, 52, 506

1977

Spitzer, 1978, Research diagnostic criteria: rationale and reliability, Arch Gen Psychiatry, 35, 773, 10.1001/archpsyc.1978.01770300115013

Steiner, 1999, Differential expression of ErbB3 and ErbB4 neuregulin receptors in dopamine neurons and forebrain areas of the adult rat, Exp Neurol, 159, 494, 10.1006/exnr.1999.7163

Tsuang, 2001, Genes, environment and schizophrenia, Br J Psychiatry, 18, 10.1192/bjp.178.40.s18

Wang, 2001, The N-terminal region of neuregulin isoforms determines the accumulation of cell surface and released neuregulin ectodomain, J Biol Chem, 276, 2841, 10.1074/jbc.M005700200