Expanding the range of ZNF804A variants conferring risk of psychosis

被引：124

作者：

Steinberg, S. ^{[1
]}

Mors, O. ^{[2
]}

Borglum, A. D. ^{[2
,3
]}

Gustafsson, O. ^{[4
,5
]}

Werge, T. ^{[6
]}

Mortensen, P. B. ^{[7
]}

Andreassen, O. A. ^{[4
,5
]}

Sigurdsson, E. ^{[8
,9
]}

Thorgeirsson, T. E. ^{[1
]}

Bottcher, Y. ^{[1
]}

Olason, P. ^{[1
]}

Ophoff, R. A. ^{[10
,11
,12
]}

Cichon, S. ^{[13
]}

Gudjonsdottir, I. H. ^{[1
]}

Pietilainen, O. P. H. ^{[14
,15
,16
]}

Nyegaard, M. ^{[3
]}

Tuulio-Henriksson, A. ^{[17
]}

Ingason, A. ^{[1
]}

Hansen, T. ^{[6
]}

Athanasiu, L. ^{[4
,5
]}

Suvisaari, J. ^{[17
]}

Lonnqvist, J. ^{[17
]}

Paunio, T. ^{[18
]}

Hartmann, A. ^{[19
]}

Jurgens, G. ^{[20
]}

Nordentoft, M. ^{[21
]}

Hougaard, D. ^{[22
]}

Norgaard-Pedersen, B. ^{[23
]}

Breuer, R. ^{[24
]}

Moeller, H-J

Giegling, I. ^{[19
]}

Glenthoj, B. ^{[25
]}

Rasmussen, H. B. ^{[6
]}

Mattheisen, M. ^{[12
]}

Bitter, I. ^{[26
]}

Rethelyi, J. M. ^{[26
]}

Sigmundsson, T. ^{[8
,9
]}

Fossdal, R. ^{[1
]}

Thorsteinsdottir, U. ^{[1
,9
]}

Ruggeri, M. ^{[27
]}

Tosato, S. ^{[27
]}

Strengman, E. ^{[10
,11
]}

Kiemeney, L. A. ^{[28
,29
]}

Melle, I. ^{[4
,5
]}

Djurovic, S. ^{[30
]}

Abramova, L. ^{[31
]}

Kaleda, V. ^{[31
]}

Walshe, M. ^{[32
]}

Bramon, E. ^{[32
]}

Vassos, E. ^{[32
,33
]}

机构：

[1] deCODE Genet, IS-101 Reykjavik, Iceland

[2] Aarhus Univ Hosp, Ctr Psychiat Res, Risskov, Denmark

[3] Aarhus Univ, Dept Human Genet, Aarhus C, Denmark

[4] Ullevaal Univ Hosp, Dept Psychiat, Oslo, Norway

[5] Univ Oslo, Inst Psychiat, Oslo, Norway

[6] Mental Hlth Ctr Sct Hans Copenhagen Univ Hosp, Res Inst Biol Psychiat, Roskilde, Denmark

[7] Aarhus Univ, Natl Ctr Register Based Res, Aarhus, Denmark

[8] Natl Univ Hosp Reykjavik, Dept Psychiat, Reykjavik, Iceland

[9] Univ Iceland, Sch Med, Reykjavik, Iceland

[10] Univ Med Ctr, Dept Med Genet, Utrecht, Netherlands

[11] Univ Med Ctr, Rudolf Magnus Inst Neurosci, Utrecht, Netherlands

[12] UCLA Ctr Neurobehav Genet, Los Angeles, CA USA

[13] Univ Bonn, Dept Genom, Life & Brain Ctr, D-5300 Bonn, Germany

[14] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland

[15] Univ Helsinki, Dept Med Genet, Helsinki, Finland

[16] Wellcome Trust Sanger Inst, Cambridge, England

[17] Natl Publ Hlth Inst, Dept Mental Hlth & Alcohol Res, Helsinki, Finland

[18] Natl Inst Hlth & Welf THL, Publ Hlth Genom Unit, Helsinki, Finland

[19] Univ Munich, Dept Psychiat, Div Mol & Clin Neurobiol, D-8000 Munich, Germany

[20] Bispebjerg Hosp, Dept Clin Pharmacol, Copenhagen NV, Denmark

[21] Bispebjerg Hosp, Psychiat Ctr Bisbebjerg, Copenhagen NV, Denmark

[22] State Serum Inst, Sect Neonatal Screening & Hormones, Dept Clin Chem & Immunol, Copenhagen S, Denmark

[23] Glostrup Cty Hosp, Dept Neurol, Copenhagen, Denmark

[24] Univ Heidelberg, Dept Genet Epidemiol Psychiat, Cent Inst Mental Hlth, D-6800 Mannheim, Germany

[25] Copenhagen Univ Hosp, Ctr Clin Intervent & Neuropsychiat Schizophrenia, Ctr Psychiat, Glostrup, Denmark

[26] Semmelweis Univ, Dept Psychiat & Psychotherapy, Budapest, Hungary

[27] Univ Verona, Sect Psychiat & Clin Psychol, I-37100 Verona, Italy

[28] Radboud Univ Nijmegen, Med Ctr, Dept Epidemiol & Biostat, NL-6525 ED Nijmegen, Netherlands

[29] Radboud Univ Nijmegen, Med Ctr, Dept Urol, NL-6525 ED Nijmegen, Netherlands

[30] Ullevaal Univ Hosp, Dept Med Genet, Oslo, Norway

[31] Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia

[32] Kings Coll London, Div Psychol Med, Inst Psychiat, London WC2R 2LS, England

[33] Kings Coll London, Social Genet & Dev Psychiat Ctr, Inst Psychiat, London WC2R 2LS, England

[34] Sichuan Univ, Psychiat Lab, Dept Psychiat, W China Hosp, Chengdu, Sichuan, Peoples R China

[35] Univ Aberdeen, Dept Mental Hlth, Royal Cornhill Hosp, Aberdeen, Scotland

[36] Ravenscraig Hosp, Greenock, Scotland

[37] Univ Calif Los Angeles, Dept Human Genet, Los Angeles, CA USA

[38] Karolinska Hosp & Inst, Dept Clin Neurosci, HUBIN Project, Stockholm, Sweden

[39] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany

来源：

MOLECULAR PSYCHIATRY | 2011年 / 16卷 / 01期

基金：

芬兰科学院;

关键词：

schizophrenia; bipolar disorder; ZNF804A; CNV; association; GENOME-WIDE ASSOCIATION; AUTISM SPECTRUM DISORDERS; BIPOLAR DISORDER; COMMON VARIANTS; INCREASE RISK; SCHIZOPHRENIA; DISEASE; LOCI; CONTACTIN-ASSOCIATED-PROTEIN-LIKE-2; SUSCEPTIBILITY;

D O I：

10.1038/mp.2009.149

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A trio of genome-wide association studies recently reported sequence variants at three loci to be significantly associated with schizophrenia. No sequence polymorphism had been unequivocally (P<5 x 10(-8)) associated with schizophrenia earlier. However, one variant, rs1344706[T], had come very close. This polymorphism, located in an intron of ZNF804A, was reported to associate with schizophrenia with a P-value of 1.6 x 10(-7), and with psychosis (schizophrenia plus bipolar disorder) with a P-value of 1.0 x 10(-8). In this study, using 5164 schizophrenia cases and 20 709 controls, we replicated the association with schizophrenia (odds ratio OR=1.08, P=0.0029) and, by adding bipolar disorder patients, we also confirmed the association with psychosis (added N=609, OR=1.09, P=0.00065). Furthermore, as it has been proposed that variants such as rs1344706[T]-common and with low relative risk-may also serve to identify regions harboring less common, higher-risk susceptibility alleles, we searched ZNF804A for large copy number variants (CNVs) in 4235 psychosis patients, 1173 patients with other psychiatric disorders and 39 481 controls. We identified two CNVs including at least part of ZNF804A in psychosis patients and no ZNF804A CNVs in controls (P=0.013 for association with psychosis). In addition, we found a ZNF804A CNV in an anxiety patient (P=0.0016 for association with the larger set of psychiatric disorders). Molecular Psychiatry (2011) 16, 59-66; doi:10.1038/mp.2009.149; published online 5 January 2010

引用

页码：59 / 66

页数：8

共 44 条

[1] Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene [J].

Alarcon, Maricela ;

Abrahams, Brett S. ;

Stone, Jennifer L. ;

Duvall, Jacqueline A. ;

Perederiy, Julia V. ;

Bomar, Jamee M. ;

Sebat, Jonathan ;

Wigler, Michael ;

Martin, Christa L. ;

Ledbetter, David H. ;

Nelson, Stanley E. ;

Cantor, Rita M. ;

Geschwind, Daniel H. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :150-159

[2] Genetic Mapping in Human Disease [J].

Altshuler, David ;

Daly, Mark J. ;

Lander, Eric S. .

SCIENCE, 2008, 322 (5903) :881-888

[3] A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism [J].

Arking, Dan E. ;

Cutler, David J. ;

Brune, Camille W. ;

Teslovich, Tanya M. ;

West, Kristen ;

Ikeda, Morna ;

Rea, Alexis ;

Guy, Moltu ;

Lin, Shin ;

Cook, Edwin H., Jr. ;

Chakravarti, Aravinda .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :160-164

[4] Molecular cytogenetic analysis and resequencing of Contactin Associated Protein-Like 2 in autism spectrum disorders [J].

Bakkaloglu, Betul ;

O'Roak, Brian J. ;

Louvi, Angeliki ;

Gupta, Abha R. ;

Abelson, Jesse E. ;

Morgan, Thomas M. ;

Chawarska, Katarzyna ;

Klin, Ami ;

Ercan-Sencicek, A. Gulhan ;

Stillman, Althea A. ;

Tanriover, Gamze ;

Abrahams, Brett S. ;

Duvall, Jackie A. ;

Robbins, Elissa M. ;

Geschwind, Daniel H. ;

Biederer, Thomas ;

Gunel, Murat ;

Lifton, Richard P. ;

State, Matthew W. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 82 (01) :165-173

[5] A twin study of genetic relationships between psychotic symptoms [J].

Cardno, AG ;

Rijsdijk, FV ;

Sham, PC ;

Murray, RM ;

McGuffin, P .

AMERICAN JOURNAL OF PSYCHIATRY, 2002, 159 (04) :539-545

[6] Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder [J].

Christian, Susan L. ;

Brune, Camille W. ;

Sudi, Jyotsna ;

Kumar, Ravinesh A. ;

Liu, Shaung ;

Karamohamed, Samer ;

Badner, Judith A. ;

Matsui, Seiichi ;

Conroy, Jeffrey ;

McQuaid, Devin ;

Gergel, James ;

Hatchwell, Eli ;

Gilliam, T. Conrad ;

Gershon, Elliot S. ;

Nowak, Norma J. ;

Dobyns, William B. ;

Cook, Edwin H., Jr. .

BIOLOGICAL PSYCHIATRY, 2008, 63 (12) :1111-1117

[7] Genomic control for association studies [J].

Devlin, B ;

Roeder, K .

BIOMETRICS, 1999, 55 (04) :997-1004

[8] Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms [J].

Diskin, Sharon J. ;

Li, Mingyao ;

Hou, Cuiping ;

Yang, Shuzhang ;

Glessner, Joseph ;

Hakonarson, Hakon ;

Bucan, Maja ;

Maris, John M. ;

Wang, Kai .

NUCLEIC ACIDS RESEARCH, 2008, 36 (19)

[9] Progress and challenges in genome-wide association studies in humans [J].

Donnelly, Peter .

NATURE, 2008, 456 (7223) :728-731

[10] Neural Mechanisms of a Genome-Wide Supported Psychosis Variant [J].

Esslinger, Christine ;

Walter, Henrik ;

Kirsch, Peter ;

Erk, Susanne ;

Schnell, Knut ;

Arnold, Claudia ;

Haddad, Leila ;

Mier, Daniela ;

von Boberfeld, Carola Opitz ;

Raab, Kyeon ;

Witt, Stephanie H. ;

Rietschel, Marcella ;

Cichon, Sven ;

Meyer-Lindenberg, Andreas .

SCIENCE, 2009, 324 (5927) :605-605

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