Common variants conferring risk of schizophrenia
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Common variants conferring risk of schizophrenia. / Stefansson, Hreinn; Ophoff, Roel A; Steinberg, Stacy; Andreassen, Ole A; Cichon, Sven; Rujescu, Dan; Werge, Thomas; Pietiläinen, Olli P H; Mors, Ole; Mortensen, Preben Bo; Sigurdsson, Engilbert; Gustafsson, Omar; Nyegaard, Mette; Tuulio-Henriksson, Annamari; Ingason, Andres; Hansen, Thomas; Suvisaari, Jaana; Lonnqvist, Jouko; Paunio, Tiina; Børglum, Anders D; Hartmann, Annette; Fink-Jensen, Anders; Nordentoft, Merete; Hougaard, David; Norgaard-Pedersen, Bent; Böttcher, Yvonne; Olesen, Jes; Breuer, René; Möller, Hans-Jürgen; Giegling, Ina; Rasmussen, Henrik B; Timm, Sally; Mattheisen, Manuel; Bitter, István; Réthelyi, János M; Magnusdottir, Brynja B; Sigmundsson, Thordur; Olason, Pall; Masson, Gisli; Gulcher, Jeffrey R; Haraldsson, Magnus; Fossdal, Ragnheidur; Thorgeirsson, Thorgeir E; Thorsteinsdottir, Unnur; Ruggeri, Mirella; Tosato, Sarah; Franke, Barbara; Strengman, Eric; Kiemeney, Lambertus A; Melle, Ingrid; Genetic Risk and Outcome in Psychosis (GROUP).
In: Nature, Vol. 460, No. 7256, 06.08.2009, p. 744-7.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Common variants conferring risk of schizophrenia
AU - Stefansson, Hreinn
AU - Ophoff, Roel A
AU - Steinberg, Stacy
AU - Andreassen, Ole A
AU - Cichon, Sven
AU - Rujescu, Dan
AU - Werge, Thomas
AU - Pietiläinen, Olli P H
AU - Mors, Ole
AU - Mortensen, Preben Bo
AU - Sigurdsson, Engilbert
AU - Gustafsson, Omar
AU - Nyegaard, Mette
AU - Tuulio-Henriksson, Annamari
AU - Ingason, Andres
AU - Hansen, Thomas
AU - Suvisaari, Jaana
AU - Lonnqvist, Jouko
AU - Paunio, Tiina
AU - Børglum, Anders D
AU - Hartmann, Annette
AU - Fink-Jensen, Anders
AU - Nordentoft, Merete
AU - Hougaard, David
AU - Norgaard-Pedersen, Bent
AU - Böttcher, Yvonne
AU - Olesen, Jes
AU - Breuer, René
AU - Möller, Hans-Jürgen
AU - Giegling, Ina
AU - Rasmussen, Henrik B
AU - Timm, Sally
AU - Mattheisen, Manuel
AU - Bitter, István
AU - Réthelyi, János M
AU - Magnusdottir, Brynja B
AU - Sigmundsson, Thordur
AU - Olason, Pall
AU - Masson, Gisli
AU - Gulcher, Jeffrey R
AU - Haraldsson, Magnus
AU - Fossdal, Ragnheidur
AU - Thorgeirsson, Thorgeir E
AU - Thorsteinsdottir, Unnur
AU - Ruggeri, Mirella
AU - Tosato, Sarah
AU - Franke, Barbara
AU - Strengman, Eric
AU - Kiemeney, Lambertus A
AU - Melle, Ingrid
AU - Genetic Risk and Outcome in Psychosis (GROUP)
PY - 2009/8/6
Y1 - 2009/8/6
N2 - 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.
AB - 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.
U2 - http://dx.doi.org/10.1038/nature08186
DO - http://dx.doi.org/10.1038/nature08186
M3 - Journal article
VL - 460
SP - 744
EP - 747
JO - Nature
JF - Nature
SN - 0028-0836
IS - 7256
ER -
ID: 34081591