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Common variants conferring risk of schizophrenia.

Publication ,  Journal Article
Stefansson, H; Ophoff, RA; Steinberg, S; Andreassen, OA; Cichon, S; Rujescu, D; Werge, T; Pietiläinen, OPH; Mors, O; Mortensen, PB; Nyegaard, M ...
Published in: Nature
August 2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative risk of schizophrenia but also of other psychiatric disorders. The structural variations associated with schizophrenia can involve several genes and the phenotypic syndromes, or the 'genomic disorders', have not yet been characterized. Single nucleotide polymorphism (SNP)-based genome-wide association studies with the potential to implicate individual genes in complex diseases may reveal underlying biological pathways. Here we combined SNP data from several large genome-wide scans and followed up the most significant association signals. We found significant association with several markers spanning the major histocompatibility complex (MHC) region on chromosome 6p21.3-22.1, a marker located upstream of the neurogranin gene (NRGN) on 11q24.2 and a marker in intron four of transcription factor 4 (TCF4) on 18q21.2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.

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Published In

Nature

DOI

EISSN

1476-4687

ISSN

0028-0836

Publication Date

August 2009

Volume

460

Issue

7256

Start / End Page

744 / 747

Related Subject Headings

  • Transcription Factors
  • Transcription Factor 4
  • Schizophrenia
  • Polymorphism, Single Nucleotide
  • Neurogranin
  • Major Histocompatibility Complex
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome, Human
 

Citation

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Stefansson, H., Ophoff, R. A., Steinberg, S., Andreassen, O. A., Cichon, S., Rujescu, D., … Collier, D. A. (2009). Common variants conferring risk of schizophrenia. Nature, 460(7256), 744–747. https://doi.org/10.1038/nature08186
Stefansson, Hreinn, Roel A. Ophoff, Stacy Steinberg, Ole A. Andreassen, Sven Cichon, Dan Rujescu, Thomas Werge, et al. “Common variants conferring risk of schizophrenia.Nature 460, no. 7256 (August 2009): 744–47. https://doi.org/10.1038/nature08186.
Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D, et al. Common variants conferring risk of schizophrenia. Nature. 2009 Aug;460(7256):744–7.
Stefansson, Hreinn, et al. “Common variants conferring risk of schizophrenia.Nature, vol. 460, no. 7256, Aug. 2009, pp. 744–47. Epmc, doi:10.1038/nature08186.
Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D, Werge T, Pietiläinen OPH, Mors O, Mortensen PB, Sigurdsson E, Gustafsson O, Nyegaard M, Tuulio-Henriksson A, Ingason A, Hansen T, Suvisaari J, Lonnqvist J, Paunio T, Børglum AD, Hartmann A, Fink-Jensen A, Nordentoft M, Hougaard D, Norgaard-Pedersen B, Böttcher Y, Olesen J, Breuer R, Möller H-J, Giegling I, Rasmussen HB, Timm S, Mattheisen M, Bitter I, Réthelyi JM, Magnusdottir BB, Sigmundsson T, Olason P, Masson G, Gulcher JR, Haraldsson M, Fossdal R, Thorgeirsson TE, Thorsteinsdottir U, Ruggeri M, Tosato S, Franke B, Strengman E, Kiemeney LA, Genetic Risk and Outcome in Psychosis (GROUP), Melle I, Djurovic S, Abramova L, Kaleda V, Sanjuan J, de Frutos R, Bramon E, Vassos E, Fraser G, Ettinger U, Picchioni M, Walker N, Toulopoulou T, Need AC, Ge D, Yoon JL, Shianna KV, Freimer NB, Cantor RM, Murray R, Kong A, Golimbet V, Carracedo A, Arango C, Costas J, Jönsson EG, Terenius L, Agartz I, Petursson H, Nöthen MM, Rietschel M, Matthews PM, Muglia P, Peltonen L, St Clair D, Goldstein DB, Stefansson K, Collier DA. Common variants conferring risk of schizophrenia. Nature. 2009 Aug;460(7256):744–747.
Journal cover image

Published In

Nature

DOI

EISSN

1476-4687

ISSN

0028-0836

Publication Date

August 2009

Volume

460

Issue

7256

Start / End Page

744 / 747

Related Subject Headings

  • Transcription Factors
  • Transcription Factor 4
  • Schizophrenia
  • Polymorphism, Single Nucleotide
  • Neurogranin
  • Major Histocompatibility Complex
  • Humans
  • Genotype
  • Genome-Wide Association Study
  • Genome, Human