Expanding the range of ZNF804A variants conferring risk of psychosis (original) (raw)

References

1. International Schizophrenia Consortium, Purcell SM, Wray NR, Stone JL, Visscher PM, O’Donovan MC, Sullivan PF et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748–748.
   PubMed Central Google Scholar
2. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, Pe’er I et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009; 460: 753–757.
   CAS PubMed PubMed Central Google Scholar
3. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D et al. Common variants conferring risk of schizophrenia. Nature 2009; 460: 744–747.
   CAS PubMed PubMed Central Google Scholar
4. O’Donovan MC, Craddock N, Norton N, Williams H, Peirce T, Moskvina V et al. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet 2008; 40: 1053–1055.
   Article PubMed Google Scholar
5. Esslinger C, Walter H, Kirsch P, Erk S, Schnell K, Arnold C et al. Neural mechanisms of a genome-wide supported psychosis variant. Science 2009; 324: 605.
   Article CAS PubMed Google Scholar
6. Altshuler D, Daly MJ, Lander ES . Genetic mapping in human disease. Science 2008; 322: 881–888.
   Article CAS PubMed PubMed Central Google Scholar
7. Donnelly P . Progress and challenges in genome-wide association studies in humans. Nature 2008; 456: 728–731.
   Article CAS PubMed Google Scholar
8. McCarthy MI, Hirschhorn JN . Genome-wide association studies: potential next steps on a genetic journey. Hum Mol Genet 2008; 17 (R2): R156–R165.
   Article CAS PubMed PubMed Central Google Scholar
9. Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA et al. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008; 40: 1461–1465.
   Article CAS PubMed PubMed Central Google Scholar
10. Pritchard JK, Stephens M, Donnelly P . Inference of population structure using multilocus genotype data. Genetics 2000; 155: 945–959.
    CAS PubMed PubMed Central Google Scholar
11. Gretarsdottir S, Thorleifsson G, Reynisdottir ST, Manolescu A, Jonsdottir S, Jonsdottir T et al. The gene encoding phosphodiesterase 4D confers risk of ischemic stroke. Nat Genet 2003; 35: 131–138.
    Article CAS PubMed Google Scholar
12. Rafnar T, Sulem P, Stacey SN, Geller F, Gudmundsson J, Sigurdsson A et al. Sequence variants at the TERT-CLPTM1 L locus associate with many cancer types. Nat Genet 2009; 41: 221–227.
    Article CAS PubMed PubMed Central Google Scholar
13. Pe’er I, de Bakker PI, Maller J, Yelensky R, Altshuler D, Daly MJ . Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet 2006; 38: 663–667.
    Article PubMed Google Scholar
14. Nicolae DL . Testing untyped alleles (TUNA)-applications to genome-wide association studies. Genet Epidemiol 2006; 30: 718–727.
    Article PubMed Google Scholar
15. Zaitlen N, Kang HM, Eskin E, Halperin E . Leveraging the HapMap correlation structure in association studies. Am J Hum Genet 2007; 80: 683–691.
    Article CAS PubMed PubMed Central Google Scholar
16. Devlin B, Roeder K . Genomic control for association studies. Biometrics 1999; 55: 997–1004.
    Article CAS PubMed Google Scholar
17. Mantel N, Haenszel W . Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst 1959; 22: 719–748.
    CAS PubMed Google Scholar
18. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17: 1665–1674.
    Article CAS PubMed PubMed Central Google Scholar
19. Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H et al. Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res 2008; 36: e126.
    Article PubMed PubMed Central Google Scholar
20. Cardno AG, Rijsdijk FV, Sham PC, Murray RM, McGuffin P . A twin study of genetic relationships between psychotic symptoms. Am J Psychiatry 2002; 159: 539–545.
    Article PubMed Google Scholar
21. Lichtenstein P, Yip BH, Bjork C, Pawitan Y, Cannon TD, Sullivan PF et al. Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet 2009; 373: 234–239.
    Article CAS PubMed Google Scholar
22. Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL et al. A genome-wide investigation of SNPs and CNVs in schizophrenia. PLoS Genet 2009; 5: e1000373.
    Article PubMed PubMed Central Google Scholar
23. Riley B, Thiselton D, Maher BS, Bigdeli T, Wormley B, McMichael GO et al. Replication of association between schizophrenia and ZNF804A in the Irish Case-Control Study of Schizophrenia sample. Mol Psychiatry 2010; 15: 29–37.
    Article CAS PubMed Google Scholar
24. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y et al. Detection of large-scale variation in the human genome. Nat Genet 2004; 36: 949–951.
    Article CAS PubMed Google Scholar
25. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455: 237–241.
    Article Google Scholar
26. Zhang D, Cheng L, Qian Y, Alliey-Rodriguez N, Kelsoe JR, Greenwood T et al. Singleton deletions throughout the genome increase risk of bipolar disorder. Mol Psychiatry 2009; 14: 376–380.
    Article CAS PubMed Google Scholar
27. Kirov G, Grozeva D, Norton N, Ivanov D, Mantripragada KK, Holmans P et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet 2009; 18: 1497–1503.
    Article CAS PubMed PubMed Central Google Scholar
28. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K et al. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Res 2009; 19: 1682–1690.
    Article CAS PubMed PubMed Central Google Scholar
29. Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 2008; 320: 539–543.
    Article CAS PubMed Google Scholar
30. Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M . Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet 2008; 40: 880–885.
    Article CAS PubMed Google Scholar
31. Christian SL, Brune CW, Sudi J, Kumar RA, Liu S, Karamohamed S et al. Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder. Biol Psychiatry 2008; 63: 1111–1117.
    Article CAS PubMed PubMed Central Google Scholar
32. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82: 477–488.
    Article CAS PubMed PubMed Central Google Scholar
33. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445–449.
    Article CAS PubMed PubMed Central Google Scholar
34. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet 2007; 39: 319–328.
    Article CAS PubMed PubMed Central Google Scholar
35. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667–675.
    Article CAS PubMed Google Scholar
36. Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS et al. Identifying autism loci and genes by tracing recent shared ancestry. Science 2008; 321: 218–223.
    Article CAS PubMed PubMed Central Google Scholar
37. Gudmundsson J, Sulem P, Steinthorsdottir V, Bergthorsson JT, Thorleifsson G, Manolescu A et al. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 2007; 39: 977–983.
    Article CAS PubMed Google Scholar
38. Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006; 354: 1370–1377.
    Article CAS PubMed Google Scholar
39. Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM et al. Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. Am J Hum Genet 2008; 82: 150–159.
    Article CAS PubMed PubMed Central Google Scholar
40. Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M et al. A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 2008; 82: 160–164.
    Article CAS PubMed PubMed Central Google Scholar
41. Bakkaloglu B, O’Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet 2008; 82: 165–173.
    Article CAS PubMed PubMed Central Google Scholar
42. Poot M, Beyer V, Schwaab I, Damatova N, Van’t Slot R, Prothero J et al. Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder. Neurogenetics 2009; e-pub ahead of print.
43. Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A et al. A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet 2008; 51: 631–638.
    Article PubMed Google Scholar
44. Seidman JG, Seidman C . Transcription factor haploinsufficiency: when half a loaf is not enough. J Clin Invest 2002; 109: 451–455.
    Article CAS PubMed PubMed Central Google Scholar

Download references

Acknowledgements

We thank the subjects, their families and the recruitment center staff. This work was supported by the European Union (LSHM-CT-2006-037761 (Project SGENE), PIAP-GA-2008-218251 (Project PsychGene) and HEALTH-F2-2009-223423 (Project PsychCNVs)), the National Genomic Network (NGFN-2) of the German Federal Ministry of Education and Research (BMBF), the National Institute of Mental Health (R01 MH078075), the Center of Excellence for Complex Disease Genetics of the Academy of Finland (Grants 213506, 129680) and the Biocentrum Helsinki Foundation and Research Program for Molecular Medicine, Faculty of Medicine, University of Helsinki.

Author information

Author notes

1. See Appendix.

Authors and Affiliations

1. deCODE genetics, Reykjavik, Iceland
   S Steinberg, O Gustafsson, T E Thorgeirsson, Y Böttcher, P Olason, I H Gudjonsdottir, A Ingason, R Fossdal, U Thorsteinsdottir, A Kong, H Stefansson & K Stefansson
2. Centre for Psychiatric Research, Aarhus University Hospital, Risskov, Denmark
   O Mors & A D Børglum
3. Department of Human Genetics, Aarhus University, Arhus C, Denmark
   A D Børglum & M Nyegaard
4. Department of Psychiatry, Ullevål University Hospital and Institute of Psychiatry, University of Oslo, Oslo, Norway
   O Gustafsson, O A Andreassen, L Athanasiu & I Melle
5. Research Institute of Biological Psychiatry, Mental Health Centre Sct. Hans Copenhagen University Hospital, Roskilde, Denmark
   T Werge, T Hansen & H B Rasmussen
6. National Centre for Register-based Research, Aarhus University, Aarhus, Denmark
   P B Mortensen
7. Department of Psychiatry, National University Hospital, Reykjavik, Iceland
   E Sigurdsson, T Sigmundsson & H Petursson
8. School of Medicine, University of Iceland, Reykjavik, Iceland
   E Sigurdsson, T Sigmundsson, U Thorsteinsdottir, H Petursson & K Stefansson
9. Department of Medical Genetics and Rudolf Magnus Institute of Neuroscience, University Medical Center, Utrecht, The Netherlands
   R A Ophoff & E Strengman
10. UCLA Center for Neurobehavioral Genetics, Los Angeles, CA, USA
    R A Ophoff, M Mattheisen, N B Freimer & R M Cantor
11. Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany
    S Cichon
12. Institute for Molecular Medicine Finland FIMM and Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    O P H Pietiläinen & L Peltonen
13. Wellcome Trust Sanger Institute, Cambridge, UK
    O P H Pietiläinen & L Peltonen
14. Department of Mental Health and Alcohol Research, National Public Health Institute, Helsinki, Finland
    A Tuulio-Henriksson, J Suvisaari & J Lonnqvist
15. Public Health Genomics Unit, National Institute for Health and Welfare THL, Helsinki, Finland
    T Paunio
16. Division of Molecular and Clinical Neurobiology, Department of Psychiatry, Ludwig-Maximilians University, Munich, Germany
    A Hartmann, I Giegling & D Rujescu
17. Department of Clinical Pharmacology, Bispebjerg University Hospital, Copenhagen NV, Denmark
    G Jürgens
18. Psychiatric Centre Bisbebjerg, Bispebjerg University Hospital, Copenhagen NV, Denmark
    M Nordentoft
19. Department Clinical Chemistry and Immunology, Section of Neonatal Screening and Hormones, The State Serum Institute, Copenhagen S, Denmark
    D Hougaard
20. Department of Neurology, Glostrup Hospital, Copenhagen, Denmark
    B Norgaard-Pedersen
21. Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, University of Heidelberg, Mannheim, Germany
    R Breuer & M Rietschel
22. Department of Psychiatry, Ludwig-Maximilians-University, Munich, Germany
    H-J Möller
23. Center for Clinical Intervention and Neuropsychiatric Schizophrenia Research, Copenhagen University Hospital, Psychiatric Center, Glostrup, Denmark
    B Glenthøj
24. Department of Psychiatry and Psychotherapy, Semmelweis University, Budapest, Hungary
    I Bitter & J M Réthelyi
25. Section of Psychiatry and Clinical Psychology, University of Verona, Verona, Italy
    M Ruggeri & S Tosato
26. Department of Epidemiology and Biostatistics and Department of Urology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    L A Kiemeney
27. Department of Medical Genetics, Ulleval University Hospital and Institute of Psychiatry, University of Oslo, Oslo, Norway
    S Djurovic
28. Mental Health Research Center, Russian Academy of Medical Sciences, Moscow, Russia
    L Abramova, V Kaleda & V Golimbet
29. Division of Psychological Medicine, Institute of Psychiatry, King's College, London, UK
    M Walshe, E Bramon, E Vassos, T Li, T Toulopoulou & R Murray
30. Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College, London, UK
    E Vassos & D A Collier
31. Department of Psychiatry, Psychiatric Laboratory, West China Hospital, Sichuan University, Sichuan, China
    T Li & D A Collier
32. Department of Mental Health, University of Aberdeen, Royal Cornhill Hospital, Aberdeen, UK
    G Fraser & D St Clair
33. Ravenscraig Hospital, Greenock, UK
    N Walker
34. Department of Human Genetics, UCLA, Los Angeles, CA, USA
    J Yoon & R M Cantor
35. Department of Clinical Neuroscience, HUBIN project, Karolinska Institutet and Hospital, Stockholm, Sweden
    E G Jönsson, L Terenius & I Agartz
36. Institute of Human Genetics, University of Bonn, Bonn, Germany
    M M Nöthen

Authors

1. S Steinberg
   You can also search for this author inPubMed Google Scholar
2. O Mors
   You can also search for this author inPubMed Google Scholar
3. A D Børglum
   You can also search for this author inPubMed Google Scholar
4. O Gustafsson
   You can also search for this author inPubMed Google Scholar
5. T Werge
   You can also search for this author inPubMed Google Scholar
6. P B Mortensen
   You can also search for this author inPubMed Google Scholar
7. O A Andreassen
   You can also search for this author inPubMed Google Scholar
8. E Sigurdsson
   You can also search for this author inPubMed Google Scholar
9. Y Böttcher
   You can also search for this author inPubMed Google Scholar
10. P Olason
    You can also search for this author inPubMed Google Scholar
11. R A Ophoff
    You can also search for this author inPubMed Google Scholar
12. S Cichon
    You can also search for this author inPubMed Google Scholar
13. I H Gudjonsdottir
    You can also search for this author inPubMed Google Scholar
14. O P H Pietiläinen
    You can also search for this author inPubMed Google Scholar
15. M Nyegaard
    You can also search for this author inPubMed Google Scholar
16. A Tuulio-Henriksson
    You can also search for this author inPubMed Google Scholar
17. A Ingason
    You can also search for this author inPubMed Google Scholar
18. T Hansen
    You can also search for this author inPubMed Google Scholar
19. L Athanasiu
    You can also search for this author inPubMed Google Scholar
20. J Suvisaari
    You can also search for this author inPubMed Google Scholar
21. J Lonnqvist
    You can also search for this author inPubMed Google Scholar
22. T Paunio
    You can also search for this author inPubMed Google Scholar
23. A Hartmann
    You can also search for this author inPubMed Google Scholar
24. G Jürgens
    You can also search for this author inPubMed Google Scholar
25. M Nordentoft
    You can also search for this author inPubMed Google Scholar
26. D Hougaard
    You can also search for this author inPubMed Google Scholar
27. B Norgaard-Pedersen
    You can also search for this author inPubMed Google Scholar
28. R Breuer
    You can also search for this author inPubMed Google Scholar
29. H-J Möller
    You can also search for this author inPubMed Google Scholar
30. I Giegling
    You can also search for this author inPubMed Google Scholar
31. B Glenthøj
    You can also search for this author inPubMed Google Scholar
32. H B Rasmussen
    You can also search for this author inPubMed Google Scholar
33. M Mattheisen
    You can also search for this author inPubMed Google Scholar
34. I Bitter
    You can also search for this author inPubMed Google Scholar
35. J M Réthelyi
    You can also search for this author inPubMed Google Scholar
36. T Sigmundsson
    You can also search for this author inPubMed Google Scholar
37. R Fossdal
    You can also search for this author inPubMed Google Scholar
38. U Thorsteinsdottir
    You can also search for this author inPubMed Google Scholar
39. M Ruggeri
    You can also search for this author inPubMed Google Scholar
40. S Tosato
    You can also search for this author inPubMed Google Scholar
41. E Strengman
    You can also search for this author inPubMed Google Scholar
42. L A Kiemeney
    You can also search for this author inPubMed Google Scholar
43. I Melle
    You can also search for this author inPubMed Google Scholar
44. S Djurovic
    You can also search for this author inPubMed Google Scholar
45. L Abramova
    You can also search for this author inPubMed Google Scholar
46. V Kaleda
    You can also search for this author inPubMed Google Scholar
47. M Walshe
    You can also search for this author inPubMed Google Scholar
48. E Bramon
    You can also search for this author inPubMed Google Scholar
49. E Vassos
    You can also search for this author inPubMed Google Scholar
50. T Li
    You can also search for this author inPubMed Google Scholar
51. G Fraser
    You can also search for this author inPubMed Google Scholar
52. N Walker
    You can also search for this author inPubMed Google Scholar
53. T Toulopoulou
    You can also search for this author inPubMed Google Scholar
54. J Yoon
    You can also search for this author inPubMed Google Scholar
55. N B Freimer
    You can also search for this author inPubMed Google Scholar
56. R M Cantor
    You can also search for this author inPubMed Google Scholar
57. R Murray
    You can also search for this author inPubMed Google Scholar
58. A Kong
    You can also search for this author inPubMed Google Scholar
59. V Golimbet
    You can also search for this author inPubMed Google Scholar
60. E G Jönsson
    You can also search for this author inPubMed Google Scholar
61. L Terenius
    You can also search for this author inPubMed Google Scholar
62. I Agartz
    You can also search for this author inPubMed Google Scholar
63. M M Nöthen
    You can also search for this author inPubMed Google Scholar
64. M Rietschel
    You can also search for this author inPubMed Google Scholar
65. L Peltonen
    You can also search for this author inPubMed Google Scholar
66. D Rujescu
    You can also search for this author inPubMed Google Scholar
67. D A Collier
    You can also search for this author inPubMed Google Scholar
68. H Stefansson
    You can also search for this author inPubMed Google Scholar
69. D St Clair
    You can also search for this author inPubMed Google Scholar
70. K Stefansson
    You can also search for this author inPubMed Google Scholar

Consortia

GROUP

Corresponding author

Correspondence toK Stefansson.

Ethics declarations

Competing interests

Some of the authors, including Kari Stefansson (CEO of deCODE Genetics) and Augustine Kong (VP Statistics of deCODE Genetics), are shareholders in deCODE Genetics.

Additional information

Supplementary Information accompanies the paper on the Molecular Psychiatry website

Supplementary information

Appendix

Appendix

Members of Genetic Risk and Outcome in Psychosis (GROUP) are as follows:

René S Kahn, MD, PhD; Wiepke Cahn, MD PhD; Department of Psychiatry, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Postbus 85060, Utrecht, The Netherlands.

Don H Linszen, MD, PhD; Lieuwe de Haan, MD PhD; Academic Medical Centre University of Amsterdam, Department of Psychiatry, Amsterdam, NL326 Groot-Amsterdam, The Netherlands.

Jim van Os, MD, PhD; Lydia Krabbendam, MD PhD; Inez Myin-Germeys, MD PhD; Maastricht University Medical Centre, South Limburg Mental Health Research and Teaching Network, 6229 HX Maastricht, The Netherlands.

Durk Wiersma, MD, PhD; Richard Bruggeman, MD PhD; University Medical Center Groningen, Department of Psychiatry, University of Groningen, PO Box 30.001, 9700 RB Groningen, The Netherlands.

Rights and permissions

About this article

Cite this article

Steinberg, S., Mors, O., Børglum, A. et al. Expanding the range of ZNF804A variants conferring risk of psychosis.Mol Psychiatry 16, 59–66 (2011). https://doi.org/10.1038/mp.2009.149

Download citation

• Received: 29 July 2009
• Revised: 01 October 2009
• Accepted: 21 October 2009
• Published: 05 January 2010
• Issue Date: January 2011
• DOI: https://doi.org/10.1038/mp.2009.149

Keywords