Common variant at 16p11.2 conferring risk of psychosis.
paper
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Public
- Authors
- Steinberg, S; de Jong, S; Mattheisen, M; Costas, J; Demontis, D; Jamain, S; Pietiläinen, O P H; Lin, K; Papiol, S; Huttenlocher, J; Sigurdsson, E; Vassos, E; Giegling, I; Breuer, R; Fraser, G; Walker, N; Melle, I; Djurovic, S; Agartz, I; Tuulio-Henriksson, A; Suvisaari, J; Lönnqvist, J; Paunio, T; Olsen, L; Hansen, T; Ingason, A; Pirinen, M; Strengman, E; GROUP; Hougaard, D M; Orntoft, T; Didriksen, M; Hollegaard, M V; Nordentoft, M; Abramova, L; Kaleda, V; Arrojo, M; Sanjuán, J; Arango, C; Etain, B; Bellivier, F; Méary, A; Schürhoff, F; Szoke, A; Ribolsi, M; Magni, V; Siracusano, A; Sperling, S; Rossner, M; Christiansen, C; Kiemeney, L A; Franke, B; van den Berg, L H; Veldink, J; Curran, S; Bolton, P; Poot, M; Staal, W; Rehnstrom, K; Kilpinen, H; Freitag, C M; Meyer, J; Magnusson, P; Saemundsen, E; Martsenkovsky, I; Bikshaieva, I; Martsenkovska, I; Vashchenko, O; Raleva, M; Paketchieva, K; Stefanovski, B; Durmishi, N; Pejovic Milovancevic, M; Lecic Tosevski, D; Silagadze, T; Naneishvili, N; Mikeladze, N; Surguladze, S; Vincent, J B; Farmer, A; Mitchell, P B; Wright, A; Schofield, P R; Fullerton, J M; Montgomery, G W; Martin, N G; Rubino, I A; van Winkel, R; Kenis, G; De Hert, M; Réthelyi, J M; Bitter, I; Terenius, L; Jönsson, E G; Bakker, S; van Os, J; Jablensky, A; Leboyer, M; Bramon, E; Powell, J; Murray, R; Corvin, A; Gill, M; Morris, D; O'Neill, F A; Kendler, K; Riley, B; Wellcome Trust Case Control Consortium 2; Craddock, N; Owen, M J; O'Donovan, M C; Thorsteinsdottir, U; Kong, A; Ehrenreich, H; Carracedo, A; Golimbet, V; Andreassen, O A; Børglum, A D; Mors, O; Mortensen, P B; Werge, T; Ophoff, R A; Nöthen, M M; Rietschel, M; Cichon, S; Ruggeri, M; Tosato, S; Palotie, A; St Clair, D; Rujescu, D; Collier, D A; Stefansson, H; Stefansson, K
- Year
- 2014
- Journal
- Molecular psychiatry
- PMID
- 23164818
- DOI
- 10.1038/mp.2012.157
- PMCID
- PMC3872086
Epidemiological and genetic data support the notion that schizophrenia and bipolar disorder share genetic risk factors. In our previous genome-wide association study, meta-analysis and follow-up (totaling as many as 18 206 cases and 42 536 controls), we identified four loci showing genome-wide significant association with schizophrenia. Here we consider a mixed schizophrenia and bipolar disorder (psychosis) phenotype (addition of 7469 bipolar disorder cases, 1535 schizophrenia cases, 333 other psychosis cases, 808 unaffected family members and 46 160 controls). Combined analysis reveals a novel variant at 16p11.2 showing genome-wide significant association (rs4583255[T]; odds ratio=1.08; P=6.6 × 10(-11)). The new variant is located within a 593-kb region that substantially increases risk of psychosis when duplicated. In line with the association of the duplication with reduced body mass index (BMI), rs4583255[T] is also associated with lower BMI (P=0.0039 in the public GIANT consortium data set; P=0.00047 in 22 651 additional Icelanders).
Association results and structure of the 16p11.2 region. Bars on the x-axis indicate segmental duplications (brown) and recombination hotspots (pink). Association results are illustrated for SGENE-plus (black), SGENE-plus+MGS+ISC (green), SGENE-plus+MGS+ISC plus the primary psychosis follow-up (blue), and SGENE-plus+MGS+ISC plus the primary psychosis and secondary schizophrenia follow-up (red). RefSeq genes in the region are shown below the plot.
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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| TAOK2 controls synaptic plasticity and anxiety via ERK and calcium signaling. | Ma W et al. | — | 2025 | → |
| Autism risk gene <i>Cul3</i> alters neuronal morphology via caspase-3 activity in mouse hippocampal neurons. | Xia QQ et al. | — | 2024 | → |
| Neuroimaging and epigenetic analysis reveal novel epigenetic loci in major depressive disorder. | Yang HH et al. | — | 2024 | → |
| The autism susceptibility kinase, TAOK2, phosphorylates eEF2 and modulates translation. | Henis M et al. | — | 2024 | → |
| The pleiotropic spectrum of proximal 16p11.2 CNVs. | Auwerx C et al. | — | 2024 | → |
| Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders. | Martin Lorenzo S et al. | — | 2023 | → |
| Changes in social behaviour with alterations of MAPK3 and KCTD13/CUL3 pathways in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders | Lorenzo SM et al. | — | 2023 | — |
| Effects of heterozygous deletion of autism-related gene Cullin-3 in mice. | Xia QQ et al. | — | 2023 | → |
| Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment. | Liu F et al. | — | 2023 | → |
| Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia. | Jurisova L et al. | — | 2023 | → |
| Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. | Moufawad El Achkar C et al. | — | 2022 | → |
| Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models. | Tai DJC et al. | — | 2022 | → |
| Functional Genomics Identify a Regulatory Risk Variation rs4420550 in the 16p11.2 Schizophrenia-Associated Locus. | Chang H et al. | — | 2021 | → |
| Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4. | Rein B et al. | — | 2021 | → |
| 16p11.2 Copy Number Variations and Neurodevelopmental Disorders. | Rein B et al. | — | 2020 | → |
| Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia. | Sardaar S et al. | — | 2020 | → |
| Psychotic symptoms in 16p11.2 copy-number variant carriers. | Jutla A et al. | — | 2020 | → |
| Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice. | Ouellette J et al. | — | 2020 | → |
| Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling. | Richter M et al. | — | 2019 | → |
| JNK signalling mediates aspects of maternal immune activation: importance of maternal genotype in relation to schizophrenia risk. | Openshaw RL et al. | — | 2019 | → |
| Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. | Arbogast T et al. | — | 2019 | → |
| Unravelling the genetic basis of schizophrenia and bipolar disorder with GWAS: A systematic review. | Prata DP et al. | — | 2019 | → |
| Brain MR Imaging Findings and Associated Outcomes in Carriers of the Reciprocal Copy Number Variation at 16p11.2. | Owen JP et al. | — | 2018 | → |
| Accumulation of minor alleles and risk prediction in schizophrenia. | He P et al. | — | 2017 | → |
| Evaluation of whole genome amplified DNA to decrease material expenditure and increase quality. | Bækvad-Hansen M et al. | — | 2017 | → |
| Genetics of schizophrenia: A consensus paper of the WFSBP Task Force on Genetics. | Giegling I et al. | — | 2017 | → |
| Kctd13 deletion reduces synaptic transmission via increased RhoA. | Escamilla CO et al. | — | 2017 | → |
| Rare and common variants at 16p11.2 are associated with schizophrenia. | Chang H et al. | — | 2017 | → |
| [Search for risk genes in schizophrenia]. | Rujescu D | — | 2017 | → |
| Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. | Green Snyder L et al. | — | 2016 | → |
| Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons. | Gladwyn-Ng I et al. | — | 2016 | → |
| 'Big data' in mental health research: current status and emerging possibilities. | Stewart R et al. | — | 2016 | → |
| Consensus paper of the WFSBP Task Force on Biological Markers: Criteria for biomarkers and endophenotypes of schizophrenia part II: Cognition, neuroimaging and genetics. | Schmitt A et al. | — | 2016 | → |
| Convergent Lines of Evidence Support LRP8 as a Susceptibility Gene for Psychosis. | Li M et al. | — | 2016 | → |
| Copy number variation in bipolar disorder. | Green EK et al. | — | 2016 | → |
| Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia. | Costas J et al. | — | 2016 | → |
| High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA. | Poulsen JB et al. | — | 2016 | → |
| KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex. | Johnson EO et al. | — | 2016 | → |
| Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. | Duyzend MH et al. | — | 2016 | → |
| nbCNV: a multi-constrained optimization model for discovering copy number variants in single-cell sequencing data. | Zhang C et al. | — | 2016 | → |
| Polymorphisms in NRGN are associated with schizophrenia, major depressive disorder and bipolar disorder in the Han Chinese population. | Wen Z et al. | — | 2016 | → |
| Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes. | Arbogast T et al. | — | 2016 | → |
| Replication analyses of four chromosomal deletions with schizophrenia via independent large-scale meta-analyses. | Chang H et al. | — | 2016 | → |
| 16p11.2 Deletion mice display cognitive deficits in touchscreen learning and novelty recognition tasks. | Yang M et al. | — | 2015 | → |
| 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. | Yang M et al. | — | 2015 | → |
| A longitudinal twin study of the association between childhood autistic traits and psychotic experiences in adolescence. | Taylor MJ et al. | — | 2015 | → |
| Bipolar disorder and its relation to major psychiatric disorders: a family-based study in the Swedish population. | Song J et al. | — | 2015 | → |
| Candidate gene-environment interaction research: reflections and recommendations. | Dick DM et al. | — | 2015 | → |
| Cognitive dysfunction in bipolar disorder and schizophrenia: a systematic review of meta-analyses. | Bortolato B et al. | — | 2015 | → |
| Convergence of advances in genomics, team science, and repositories as drivers of progress in psychiatric genomics. | Lehner T et al. | — | 2015 | → |
| Epilepsy and bipolar disorder. | Knott S et al. | — | 2015 | → |
| Gene expression profiling of archived dried blood spot samples from the Danish Neonatal Screening Biobank. | Grauholm J et al. | — | 2015 | → |
| Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders. | Kim YS et al. | — | 2015 | → |
| Genome-wide association study of behavioural and psychiatric features in human prion disease. | Thompson AG et al. | — | 2015 | → |
| [Neurobiology of schizophrenia: new findings from the structure to the molecules]. | Schmitt A et al. | — | 2015 | → |
| Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia. | Föcking M et al. | — | 2015 | → |
| Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility. | Suárez-Rama JJ et al. | — | 2015 | → |
| What is the impact of genome-wide supported risk variants for schizophrenia and bipolar disorder on brain structure and function? A systematic review. | Gurung R et al. | — | 2015 | → |
| A hypothesis-driven pathway analysis reveals myelin-related pathways that contribute to the risk of schizophrenia and bipolar disorder. | Yu H et al. | — | 2014 | → |
| A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. | Zheng X et al. | — | 2014 | → |
| Carbonyl stress in schizophrenia. | Itokawa M et al. | — | 2014 | → |
| Copy number variation distribution in six monozygotic twin pairs discordant for schizophrenia. | Castellani CA et al. | — | 2014 | → |
| Evolving toward a human-cell based and multiscale approach to drug discovery for CNS disorders. | Schadt EE et al. | — | 2014 | → |
| Genetic relationships between schizophrenia, bipolar disorder, and schizoaffective disorder. | Cardno AG et al. | — | 2014 | → |
| GWAS, cytomegalovirus infection, and schizophrenia. | Grove J et al. | — | 2014 | → |
| Major histocompatibility complex I in brain development and schizophrenia. | McAllister AK | — | 2014 | → |
| Multisystem component phenotypes of bipolar disorder for genetic investigations of extended pedigrees. | Fears SC et al. | — | 2014 | → |
| Novel treatment strategies for schizophrenia from improved understanding of genetic risk. | Morris BJ et al. | — | 2014 | → |
| Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. | Kim YS et al. | — | 2014 | → |
| Recurrent deletions of ULK4 in schizophrenia: a gene crucial for neuritogenesis and neuronal motility. | Lang B et al. | — | 2014 | → |
| Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain. | Ivorra JL et al. | — | 2014 | → |
| Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism. | Ionita-Laza I et al. | — | 2014 | → |
| Towards the clinical implementation of pharmacogenetics in bipolar disorder. | Salloum NC et al. | — | 2014 | → |
| Convergent functional genomics of psychiatric disorders. | Niculescu AB | — | 2013 | → |
| Genomic and epigenomic insights into nutrition and brain disorders. | Dauncey MJ | — | 2013 | → |
| GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. | Sleiman P et al. | — | 2013 | → |