708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.
paper
Cited
Public
- Authors
- Thomson, P A; Parla, J S; McRae, A F; Kramer, M; Ramakrishnan, K; Yao, J; Soares, D C; McCarthy, S; Morris, S W; Cardone, L; Cass, S; Ghiban, E; Hennah, W; Evans, K L; Rebolini, D; Millar, J K; Harris, S E; Starr, J M; MacIntyre, D J; Generation Scotland; McIntosh, A M; Watson, J D; Deary, I J; Visscher, P M; Blackwood, D H; McCombie, W R; Porteous, D J
- Year
- 2014
- Journal
- Molecular psychiatry
- PMID
- 23732877
- DOI
- 10.1038/mp.2013.68
- PMCID
- PMC4031635
A balanced t(1;11) translocation that transects the Disrupted in schizophrenia 1 (DISC1) gene shows genome-wide significant linkage for schizophrenia and recurrent major depressive disorder (rMDD) in a single large Scottish family, but genome-wide and exome sequencing-based association studies have not supported a role for DISC1 in psychiatric illness. To explore DISC1 in more detail, we sequenced 528 kb of the DISC1 locus in 653 cases and 889 controls. We report 2718 validated single-nucleotide polymorphisms (SNPs) of which 2010 have a minor allele frequency of <1%. Only 38% of these variants are reported in the 1000 Genomes Project European subset. This suggests that many DISC1 SNPs remain undiscovered and are essentially private. Rare coding variants identified exclusively in patients were found in likely functional protein domains. Significant region-wide association was observed between rs16856199 and rMDD (P=0.026, unadjusted P=6.3 × 10(-5), OR=3.48). This was not replicated in additional recurrent major depression samples (replication P=0.11). Combined analysis of both the original and replication set supported the original association (P=0.0058, OR=1.46). Evidence for segregation of this variant with disease in families was limited to those of rMDD individuals referred from primary care. Burden analysis for coding and non-coding variants gave nominal associations with diagnosis and measures of mood and cognition. Together, these observations are likely to generalise to other candidate genes for major mental illness and may thus provide guidelines for the design of future studies.
TRAX/DISC1 (Disrupted in schizophrenia 1) genomic and exon structure: alignment of coding and regulatory variants. (a) Three-period moving average of all single-nucleotide polymorphisms (SNPs) identified per 5 kb across the region in this study with TRAX/DISC1 intron/exons structure given to scale. Total SNP number (black), those with a minor allele frequency (MAF) of <1% SNPs (blue), those ⩾1% MAF (green), rs16856199 (arrow). For comparison, the number of SNPs identified in the 1000 genomes (red, dashed) and the number of bases repeat masked (top black) and 7x regulatory potential (top blue) are also shown. Exon and intron structure of TRAX and DISC1 are drawn to scale. (b) The position and diagnoses of exonic or regulatory SNPs. SNPs not seen previously (underlined), synonymous SNPs (black) and non-synonymous SNPs (red), stop or putative splice SNPs (green). Novel SNPs not previously reported in the European samples of the 1000 Genomes Project (v3.20101123) or the NHLBI GO Exome Sequencing Project (ESP6500) or relevant sequencing and association studies10, 16, 17, 64, 65 are underlined.
Region-wide association analysis for schizophrenia, bipolar and recurrent major depressive disorder. Nominal P-values for Fisher's exact tests are plotted against genomic location (hg18) across the TRAX/DISC1 (Disrupted in schizophrenia 1) locus. Reference lines represent 1% (dashed) and 5% (solid) region-wide empirical thresholds. Only the association of rs16856199 and recurrent major depressive disorder remains significant at the 5% threshold (arrow).
Segregation of the R37W polymorphism with psychiatric diagnoses in a small Scottish family. The proband of the family is indicated (arrow). The codon containing the T allele encodes for the amino acid tryptophan (W) and the codon containing the A allele encodes arginine (R). rMDD, recurrent major depressive disorder; BP2, bipolar II.
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| Name | Type |
|---|---|
| 10,000 controls local | cohort |
| 1000 Genomes Project | cohort |
| 37W local | variant |
| 607F local | variant |
| 607F allele local | variant |
| 704C allele local | variant |
| 889 controls local | cohort |
| A83V local | variant |
| aberrant wnt signalling local | phenotype |
| ABI3730 local | drug |
| African | cohort |
| Akt | gene |
| anxiety | phenotype |
| ATF4 | gene |
| autism spectrum disorder | phenotype |
| BD | phenotype |
| bipolar disorder | phenotype |
| bipolar II disorder | phenotype |
| C__33950433_10 local | variant |
| cAMP | drug |
| Caucasians from Scotland local | cohort |
| coding variant | cohort |
| cognition | phenotype |
| cognitive ability | phenotype |
| cognitive ageing local | phenotype |
| cognitive traits | phenotype |
| common variants | cohort |
| control | cohort |
| control individuals | cohort |
| corpus callosum | anatomy |
| crystallised cognitive ability local | phenotype |
| depression | phenotype |
| DISC1 | gene |
| DISC1 160L local | variant |
| DISC1 233K local | variant |
| DISC1 Es isoform local | gene |
| DISC1 Es isoform local | variant |
| DISC1FP1 local | gene |
| DISC1 pathway genes local | gene |
| DISC1 SNPs local | variant |
| DISC1 stop mutation local | variant |
| DISC1 variants local | variant |
| DISC2 local | gene |
| ESP | cohort |
| European control cohort local | cohort |
| European genomes local | cohort |
| European population | cohort |
| European subset of the 1000 Genomes Project local | cohort |
| Exome Variant Server (NHLBI GO Exome Sequencing Project) local | cohort |
| exon 11 of DISC1 local | variant |
| familial sample local | cohort |
| family history of depression | phenotype |
| fluid cognitive ability local | phenotype |
| full sample | cohort |
| functional brain imaging phenotypes local | phenotype |
| functional variant | variant |
| generalized anxiety disorder | phenotype |
| Generation Scotland | cohort |
| Generation Scotland: Scottish Family Health Study local | cohort |
| GSK3B | gene |
| Healthy population controls local | cohort |
| hospital-referral subjects local | cohort |
| illness | phenotype |
| Illumina GAII local | drug |
| Illumina HiSeq 2000 | drug |
| L607F local | variant |
| large Scottish family local | cohort |
| LBC1936 | cohort |
| Lothian Birth Cohort 1936 | cohort |
| MAPK3 | gene |
| mood disorders | phenotype |
| Moray House Test scores local | phenotype |
| mouse brain | anatomy |
| NDE1 local | gene |
| NDEL1 local | gene |
| neural progenitor proliferation local | phenotype |
| neurodevelopmental phenotype | phenotype |
| neuroticism | phenotype |
| NHLBI GO Exome Sequencing Project (ESP) local | cohort |
| noradrenaline | drug |
| normative cognitive ageing local | phenotype |
| P300 component | phenotype |
| Partial agenesis of the corpus callosum local | phenotype |
| PCM1 local | gene |
| PDE4 local | gene |
| PDE442 local | gene |
| Pde4b | gene |
| population-based cohorts | cohort |
| primary care | cohort |
| Primary care referred group local | cohort |
| psychiatric disorders | phenotype |
| Psychiatric patients (SZ, BP, rMDD) local | cohort |
| R233K local | variant |
| R37W local | variant |
| R418H local | variant |
| Rare DISC1 variants local | variant |
| rare potentially regulatory variants local | variant |
| rare SNPs in conserved regions local | variant |
| rare variant | cohort |
| recurrent major depressive disorder | phenotype |
| regulatory potential SNPs local | variant |
| regulatory variant | variant |
| replication sample | cohort |
| rs1685199 local | variant |
| rs16856189 local | variant |
| rs16856199 local | variant |
| rs6678723 local | variant |
| S704C local | variant |
| schizoaffective disorder | phenotype |
| schizophrenia | phenotype |
| Scottish family (DISC1 translocation) local | cohort |
| Scottish t(1;11) family local | cohort |
| SCZ | phenotype |
| single SCZ individuals local | cohort |
| SNP | cohort |
| SNPs in conserved transcription factor binding sites local | variant |
| SNPs in CpG islands local | variant |
| SNPs with regulatory potential local | variant |
| stop codon variant local | variant |
| stress response | phenotype |
| structural brain imaging phenotypes local | phenotype |
| SZ | phenotype |
| SZ case cohort local | cohort |
| t(1;11) family local | cohort |
| t(1;11) translocation | variant |
| T453M local | variant |
| T603I local | variant |
| T603M local | variant |
| trait residuals local | phenotype |
| TSNAX | gene |
| W160L local | variant |
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| Transcriptomic diversity of amygdalar subdivisions across humans and nonhuman primates | Totty MS et al. | — | 2024 | — |
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| Generation of two induced pluripotent stem cell lines (TMOi001-A-5, TMOi001-A-6) carrying variants in DISC1 exon 2 using CRISPR/Cas9 gene editing. | Heider J et al. | — | 2022 | → |
| Multivariate genome-wide association study of depression, cognition, and memory phenotypes and validation analysis identify 12 cross-ethnic variants. | Sun J et al. | — | 2022 | → |
| Mitochondrial Miro GTPases coordinate mitochondrial and peroxisomal dynamics. | Zinsmaier KE | — | 2021 | → |
| DISC1 Regulates Mitochondrial Trafficking in a Miro1-GTP-Dependent Manner. | Norkett R et al. | — | 2020 | → |
| The DISC1 R264Q variant increases affinity for the dopamine D2 receptor and increases GSK3 activity. | Su P et al. | — | 2020 | → |
| Discovery of rare variants implicated in schizophrenia using next-generation sequencing. | Rhoades R et al. | — | 2019 | → |
| Endogenous Cell Type-Specific Disrupted in Schizophrenia 1 Interactomes Reveal Protein Networks Associated With Neurodevelopmental Disorders. | Wilkinson B et al. | — | 2019 | → |
| Evidence of association of the DISC1 interactome gene set with schizophrenia from GWAS. | Facal F et al. | — | 2019 | → |
| Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophrenia. | Liu CM et al. | — | 2019 | → |
| DISC1 regulates N-methyl-D-aspartate receptor dynamics: abnormalities induced by a Disc1 mutation modelling a translocation linked to major mental illness. | Malavasi ELV et al. | — | 2018 | → |
| Mechanisms underlying the role of DISC1 in synaptic plasticity. | Tropea D et al. | — | 2018 | → |
| New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation. | Fabbri C et al. | — | 2018 | → |
| Rare disruptive variants in the DISC1 Interactome and Regulome: association with cognitive ability and schizophrenia. | Teng S et al. | — | 2018 | → |
| Toward the Language Oscillogenome. | Murphy E et al. | — | 2018 | → |
| Additive sex-specific influence of common non-synonymous DISC1 variants on amygdala, basal ganglia, and white cortical surface area in healthy young adults. | Mühle C et al. | — | 2017 | → |
| A prenatal interruption of DISC1 function in the brain exhibits a lasting impact on adult behaviors, brain metabolism, and interneuron development. | Deng D et al. | — | 2017 | → |
| Mitochondrial roles of the psychiatric disease risk factor DISC1. | Norkett R et al. | — | 2017 | → |
| Psychiatric behaviors associated with cytoskeletal defects in radial neuronal migration. | Fukuda T et al. | — | 2017 | → |
| Regulation of mitochondrial dynamics by DISC1, a putative risk factor for major mental illness. | Murphy LC et al. | — | 2017 | → |
| The link between long noncoding RNAs and depression. | Huang X et al. | — | 2017 | → |
| Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia. | Tang J et al. | — | 2017 | → |
| Annual Research Review: Discovery science strategies in studies of the pathophysiology of child and adolescent psychiatric disorders--promises and limitations. | Zhao Y et al. | — | 2016 | → |
| Association study of MiRSNPs with schizophrenia, tardive dyskinesia and cognition. | John J et al. | — | 2016 | → |
| DISC1 is a coordinator of intracellular trafficking to shape neuronal development and connectivity. | Devine MJ et al. | — | 2016 | → |
| Genetic Evaluation of Schizophrenia Using the Illumina HumanExome Chip. | Moons T et al. | — | 2016 | → |
| Increased density of DISC1-immunoreactive oligodendroglial cells in fronto-parietal white matter of patients with paranoid schizophrenia. | Bernstein HG et al. | — | 2016 | → |
| Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies. | Larson NB et al. | — | 2016 | → |
| Upstream Pathways Controlling Mitochondrial Function in Major Psychosis: A Focus on Bipolar Disorder. | Machado AK et al. | — | 2016 | → |
| FASTKD2 is associated with memory and hippocampal structure in older adults. | Ramanan VK et al. | — | 2015 | → |
| Genome-wide association study of nicotine dependence in American populations: identification of novel risk loci in both African-Americans and European-Americans. | Gelernter J et al. | — | 2015 | → |
| Neuronal migration abnormalities and its possible implications for schizophrenia. | Muraki K et al. | — | 2015 | → |
| Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients. | Moselhy H et al. | — | 2015 | → |
| Category fluency, latent semantic analysis and schizophrenia: a candidate gene approach. | Nicodemus KK et al. | — | 2014 | → |
| DISC1 as a genetic risk factor for schizophrenia and related major mental illness: response to Sullivan. | Porteous DJ et al. | — | 2014 | → |
| DISC1 complexes with TRAK1 and Miro1 to modulate anterograde axonal mitochondrial trafficking. | Ogawa F et al. | — | 2014 | → |
| DISC1-TSNAX and DAOA genes in major depression and citalopram efficacy. | Arias B et al. | — | 2014 | → |
| Genetics of schizophrenia. | Escudero I et al. | — | 2014 | → |
| Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci. | Gelernter J et al. | — | 2014 | → |
| Genome-wide association study of opioid dependence: multiple associations mapped to calcium and potassium pathways. | Gelernter J et al. | — | 2014 | → |
| Inhibition of protein translation by the DISC1-Boymaw fusion gene from a Scottish family with major psychiatric disorders. | Ji B et al. | — | 2014 | → |
| The 4th Schizophrenia International Research Society Conference, 5-9 April 2014, Florence, Italy: a summary of topics and trends. | Abayomi O et al. | — | 2014 | → |
| Glycogen synthase kinase 3 substrates in mood disorders and schizophrenia. | Cole AR | — | 2013 | → |