Professor Michael O'Donovan
Professor, Division of Psychological Medicine and Clinical Neurosciences
- ODonovanMC@cardiff.ac.uk
- +44 29206 88323
- Hadyn Ellis Building, Room 3.02, Maindy Road, Cardiff, CF24 4HQ
Overview
Genetic variation makes important contributions to the aetiology of all major psychiatric disorders. Recent advances in molecular genetic technology offer unprecedented opportunities to identify specific risk genes for these disorders, and to use these findings as the basis for understanding the molecular basis of these hitherto enigmatic disorders. I am interested in identifying genes that contribute to susceptibility to a wide range of psychiatric disorders including schizophrenia, bipolar disorder, ADHD, and Alzheimer’s disease, and exploiting the findings to understanding the pathophysiological processes by which susceptibility is conferred.
Publication
2024
- Tume, C. E., Chick, S. L., Holmans, P. A., Rees, E., O'Donovan, M. C., Cameron, D. and Bray, N. J. 2024. Genetic implication of specific glutamatergic neurons of the prefrontal cortex in the pathophysiology of schizophrenia. Biological Psychiatry 4(5), article number: 100345. (10.1016/j.bpsgos.2024.100345)
- González-Peñas, J. et al. 2024. Accelerated cortical thinning in schizophrenia is associated with rare and common predisposing variation to schizophrenia and neurodevelopmental disorders. Biological Psychiatry 96(5), pp. 376-389. (10.1016/j.biopsych.2024.03.011)
- Legge, S. E. et al. 2024. Genetic and phenotypic features of Schizophrenia in the UK Biobank. JAMA Psychiatry 81, pp. 681-690. (10.1001/jamapsychiatry.2024.0200)
- Dempster, E. et al. 2024. Methylomic signature of 1 current cannabis use in two first-episode psychosis cohorts. Molecular Psychiatry
- Trastulla, L. et al. 2024. Distinct genetic liability profiles define clinically relevant patient strata across common diseases. Nature Communications 15, article number: 5534. (10.1038/s41467-024-49338-2)
- Frei, O. et al. 2024. Improved functional mapping of complex trait heritability with GSA-MiXeR implicates biologically specific gene sets. Nature Genetics 56, pp. 1310-1318. (10.1038/s41588-024-01771-1)
- D'Andrea, G. et al. 2024. Variation of subclinical psychosis across 16 sites in Europe and Brazil: findings from the multi-national EU-GEI study. Psychological Medicine 54(8), pp. 1810-1823. (10.1017/S0033291723003781)
- Owen, M. and O'Donovan, M. 2024. The genetics of cognition in schizophrenia.. Brain Medicine
- Stevenson-Hoare, J. et al. 2024. Severe psychiatric disorders are associated with increased risk of dementia. BMJ Mental Health 27(1), article number: e301097. (10.1136/bmjment-2024-301097)
- Cameron, D. et al. 2024. Genetic implication of prenatal GABAergic and cholinergic neuron development in susceptibility to schizophrenia. Schizophrenia Bulletin Open (10.1093/schbul/sbae083)
- Clifton, N. E., Lin, J. Q., Holt, C. E., O’Donovan, M. C. and Mill, J. 2024. Enrichment of the local synaptic translatome for genetic risk associated with schizophrenia and autism spectrum disorder. Biological Psychiatry 95(9), pp. 888-895. (10.1016/j.biopsych.2023.12.006)
- van der Meer, D. et al. 2024. Clustering schizophrenia genes by their temporal expression patterns aids functional interpretation. Schizophrenia Bulletin: The Journal of Psychoses and Related Disorders 50(2), pp. 327-338. (10.1093/schbul/sbad140)
- Kappel, D. et al. 2024. Rare variants in pharmacogenes influence clozapine metabolism in individuals with schizophrenia. European Neuropsychopharmacology 80, pp. 47-54. (10.1016/j.euroneuro.2023.12.007)
- Shakeshaft, A., Martin, J., Dennison, C. A., Riglin, L., Lewis, C. M., O'Donovan, M. and Thapar, A. 2024. Estimating the impact of transmitted and non-transmitted psychiatric and neurodevelopmental polygenic scores on youth emotional problems. Molecular Psychiatry 29, pp. 238-246. (10.1038/s41380-023-02319-1)
- Dennison, C. et al. 2024. Stratifying early-onset emotional disorders: using genetics to assess persistence in young people of European and South Asian ancestry. Journal of Child Psychology and Psychiatry 65(1), pp. 42-51. (10.1111/jcpp.13862)
- Koch, E. et al. 2024. How real-world data can facilitate the development of precision medicine treatment in psychiatry. Biological Psychiatry (10.1016/j.biopsych.2024.01.001)
2023
- Wang, S. et al. 2023. Rare X-linked variants carry predominantly male risk in Autism, Tourette Syndrome, and ADHD. Nature Communications 14, article number: 8077. (10.1038/s41467-023-43776-0)
- Spinazzola, E. et al. 2023. The association between reasons for first using cannabis, later pattern of use, and risk of first-episode psychosis: the EU-GEI case-control study. Psychological Medicine 53(15), pp. 7418-7427. (10.1017/S0033291723001071)
- Yuan, K. et al. 2023. Fine-mapping across diverse ancestries drives the discovery of putative causal variants underlying human complex traits and diseases. European Neuropsychopharmacology 75(Supp 1), pp. S6-S7. (10.1016/j.euroneuro.2023.08.021)
- Lock, S. K. et al. 2023. Mediation and longitudinal analysis to interpret the association between clozapine pharmacokinetics, pharmacogenomics, and absolute neutrophil count. Schizophrenia 9, article number: 74. (10.1038/s41537-023-00404-6)
- Toste, C., O'Donovan, M. and Bray, N. 2023. Mapping microRNA expression quantitative trait loci in the prenatal human brain implicates miR-1908-5p expression in bipolar disorder and other brain-related traits. Human Molecular Genetics 32(20), pp. 2941-2949., article number: ddad118. (10.1093/hmg/ddad118)
- Doherty, A., O'Donovan, M., Hamshere, M., Jones, I., Owen, M. and Walters, J. 2023. Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors. The American Journal of Psychiatry 180(10), pp. 723-738. (10.1176/appi.ajp.21121266)
- Clifton, N., Schulmann, A., Schizophrenia Working Group of the Psychiatric Genomics Consorti, ., Holmans, P., O'Donovan, M. and Vawter, M. 2023. The relationship between case-control differential gene expression from brain tissue and genetic associations in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 192(5-6), pp. 85-92. (10.1002/ajmg.b.32931)
- Owen, M., Legge, S., Rees, E., Walters, J. and O'Donovan, M. 2023. Genomic findings in schizophrenia and their implications. Molecular Psychiatry 28, pp. 3638-3647. (10.1038/s41380-023-02293-8)
- Le Guen, Y. et al. 2023. Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes. Proceedings of the National Academy of Sciences 120(36), article number: e2302720120. (10.1073/pnas.2302720120)
- Ollà, I. et al. 2023. Pathogenic mis-splicing of CPEB4 in schizophrenia. Biological Psychiatry 94(4), pp. 341-351. (10.1016/j.biopsych.2023.03.010)
- Maury, E. A. et al. 2023. Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. Cell Genomics 3(8), article number: 100356. (10.1016/j.xgen.2023.100356)
- Allardyce, J. et al. 2023. Specificity of polygenic signatures across symptom dimensions in bipolar disorder: an analysis of UK Bipolar Disorder Research Network data. The Lancet Psychiatry 10(8), pp. 623-631. (10.1016/S2215-0366(23)00186-4)
- Lewis, K. et al. 2023. The dynamic interplay between sleep and mood: an intensive longitudinal study of individuals with bipolar disorder. Psychological Medicine 53(8), pp. 3345-3354. (10.1017/S0033291721005377)
- Rodriguez, V. et al. 2023. Use of multiple polygenic risk scores for distinguishing schizophrenia-spectrum disorder and affective psychosis categories in a first-episode sample; the EU-GEI study. Psychological Medicine 53(8), pp. 3396-3405. (10.1017/S0033291721005456)
- Demontis, D. et al. 2023. Author Correction: Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Nature Genetics 55, article number: 730. (10.1038/s41588-023-01350-w)
- Johnson, E. C. et al. 2023. Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder. Psychological Medicine 53(4), pp. 1196-1204. (10.1017/S003329172100266X)
- Lynham, A. J. et al. 2023. DRAGON-Data: A platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts. BJPsych Open 9(2), article number: e32. (10.1192/bjo.2022.636)
- Pardinas, A. F. et al. 2023. Pharmacokinetics and pharmacogenomics of clozapine in an ancestrally diverse sample: a longitudinal analysis and genome-wide association study using UK clinical monitoring data. The Lancet Psychiatry 10(3), pp. 209-219. (10.1016/S2215-0366(23)00002-0)
- Dimitriadis, S. I. et al. 2023. Genetic risk for schizophrenia is associated with increased proportion of indirect connections in brain networks revealed by a semi-metric analysis: evidence from population sample stratified for polygenic risk. Cerebral Cortex 33(6), pp. 2997-3011. (10.1093/cercor/bhac256)
- Liu, D. et al. 2023. Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations. Nature Genetics 55, pp. 369-376. (10.1038/s41588-023-01305-1)
- Demontis, D. et al. 2023. Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains. Nature Genetics 55, pp. 198-208. (10.1038/s41588-022-01285-8)
- Ajnakina, O. et al. 2023. Development and validation of predictive model for a diagnosis of first episode psychosis using the multinational EU-GEI case-control study and modern statistical learning methods.. Schizophrenia Bulletin Open 4(1), article number: sgad008. (10.1093/schizbullopen/sgad008)
- Cameron, D. et al. 2023. Single nuclei RNA sequencing of 5 regions of the human prenatal brain implicates developing neuron populations in genetic risk for schizophrenia. Biological Psychiatry 93, pp. 157-166. (10.1016/j.biopsych.2022.06.033)
- Kappel, D. B. et al. 2023. Genomic stratification of clozapine prescription patterns using schizophrenia polygenic scores. Biological Psychiatry 93, pp. 149-156. (10.1016/j.biopsych.2022.07.014)
- Martin, J. et al. 2023. Investigating direct and indirect genetic effects in attention-deficit/hyperactivity disorder using parent-offspring trios. Biological Psychiatry 93(1), pp. 37-44. (10.1016/j.biopsych.2022.06.008)
2022
- Crawford, K. et al. 2022. Golgi apparatus, endoplasmic reticulum and mitochondrial function implicated in Alzheimer's disease through polygenic risk and RNA sequencing. Molecular Psychiatry (10.1038/s41380-022-01926-8)
- Riglin, L. et al. 2022. Early manifestations of genetic liability for ADHD, autism and schizophrenia at ages 18 and 24 months. JCPP Advances 2(3), article number: e12093. (10.1002/jcv2.12093)
- Bracher-Smith, M. et al. 2022. Machine learning for prediction of schizophrenia using genetic and demographic factors in the UK Biobank. Schizophrenia Research 246, pp. 156-164. (10.1016/j.schres.2022.06.006)
- Richards, A. et al. 2022. Genetic liabilities differentiating bipolar disorder, schizophrenia and major depression and phenotypic heterogeneity in bipolar disorder. JAMA Psychiatry 79(10), pp. 1032-1039. (10.1001/jamapsychiatry.2022.2594)
- Creeth, H. D. J. et al. 2022. Ultrarare coding variants and cognitive function in schizophrenia. JAMA Psychiatry 79(10), pp. 963-970. (10.1001/jamapsychiatry.2022.2289)
- Riglin, L. et al. 2022. “Late-onset” ADHD symptoms in young adulthood: is this the same as child-onset ADHD?. Journal of Attention Disorders 26(10), pp. 1271-1282. (10.1177/10870547211066486)
- Paquin, V. et al. 2022. Age- and sex-specific associations between risk scores for schizophrenia and self-reported health in the general population. Social Psychiatry and Psychiatric Epidemiology (10.1007/s00127-022-02346-3)
- van Os, J. et al. 2022. Evidence, and replication thereof, that molecular-genetic and environmental risks for psychosis impact through an affective pathway. Psychological Medicine 52(10), pp. 1910-1922. (10.1017/S0033291720003748)
- Henquet, C. et al. 2022. A replication study of JTC bias, genetic liability for psychosis and delusional ideation. Psychological Medicine 52(9), pp. 1777-1783. (10.1017/S0033291720003578)
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- Morris, E., O'Donovan, M., Virani, A. and Austin, J. 2022. An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia. Human Genetics 141, pp. 1069-1084. (10.1007/s00439-021-02349-1)
- Palmer, D. et al. 2022. Exome sequencing in bipolar disorder reveals AKAP11 as a risk gene shared with schizophrenia. Nature Genetics (10.1038/s41588-022-01034-x)
- Bellenguez, C. et al. 2022. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics 54(4), pp. 412-436. (10.1038/s41588-022-01024-z)
- Trubetskoy, V. et al. 2022. Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia. Nature 604, pp. 502-508. (10.1038/s41586-022-04434-5)
- Singh, T., Schizophrenia Exome Meta-Analysis (SCHEMA) Consortium, ., Kirov, G., Rees, E., Walters, J., Owen, M. and O'Donovan, M. 2022. Rare coding variants in ten genes confer substantial risk for schizophrenia. Nature 604, pp. 509-516. (10.1038/s41586-022-04556-w)
- Lancaster, T., Dimitriadis, S., Perry, G., Zammit, S., O'Donovan, M. and Linden, D. 2022. Morphometric analysis of structural MRI using schizophrenia meta-analytic priors distinguish patients from controls in two independent samples and in a sample of individuals with high polygenic risk. Schizophrenia Bulletin 48(2), pp. 524-532., article number: sbab125. (10.1093/schbul/sbab125)
- Fusar-Poli, L. et al. 2022. Examining facial emotion recognition as an intermediate phenotype for psychosis: findings from the EUGEI study. Progress in Neuro-Psychopharmacology and Biological Psychiatry 113, article number: 110440. (10.1016/j.pnpbp.2021.110440)
- Mullins, N. et al. 2022. Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders and known risk factors. Biological Psychiatry 91(3), pp. 313-327. (10.1016/j.biopsych.2021.05.029)
- Jones, H. J. et al. 2022. Examining pathways between genetic liability for schizophrenia and patterns of tobacco and cannabis use in adolescence. Psychological Medicine 52(1), pp. 132-139. (10.1017/S0033291720001798)
- Vassos, E. et al. 2022. Lack of support for the genes by early environment interaction hypothesis in the pathogenesis of schizophrenia. Schizophrenia Bulletin 48(1), pp. 20-26. (10.1093/schbul/sbab052)
- Sanders, B. et al. 2022. Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Nature Communications 13(1), article number: 27. (10.1038/s41467-021-27601-0)
- Pardinas, A. et al. 2022. Interaction testing and polygenic risk scoring to estimate the contribution of common genetic variants to treatment resistance in schizophrenia. JAMA Psychiatry 79(3), pp. 260-269. (10.1001/jamapsychiatry.2021.3799)
2021
- Dimitriadis, S. I. et al. 2021. Global brain flexibility during working memory is reduced in a high genetic risk group for schizophrenia. Biological Psychiatry: Cognitive Neuroscience and Neuroimaging 6(12), pp. 1176-1184. (10.1016/j.bpsc.2021.01.007)
- Di Florio, A. et al. 2021. Post-partum psychosis and its association with bipolar disorder in the UK: a case-control study using polygenic risk scores. The Lancet Psychiatry 8(12), pp. 1045-1052. (10.1016/S2215-0366(21)00253-4)
- Kalman, J. L. et al. 2021. Characterisation of age and polarity at onset in bipolar disorder. The British Journal of Psychiatry 219(6), pp. 659-669. (10.1192/bjp.2021.102)
- Ajnakina, O. et al. 2021. Duration of untreated psychosis in first-episode psychosis is not associated with common genetic variants for major psychiatric conditions: results from the multi-center EU-GEI study. Schizophrenia Bulletin 47(6), pp. 1653-1662. (10.1093/schbul/sbab055)
- Dimitriadis, S. I. et al. 2021. Genetic risk for schizophrenia is associated with altered visually-induced gamma band activity: evidence from a population sample stratified polygenic risk. Translational Psychiatry 11, article number: 592. (10.1038/s41398-021-01678-z)
- Martin, J. et al. 2021. Sex differences in anxiety and depression in children with ADHD investigating genetic liability and comorbidity. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 186(7), pp. 412-422. (10.1002/ajmg.b.32842)
- Jia, X. et al. 2021. Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder. Molecular Psychiatry 26, pp. 5239-5250. (10.1038/s41380-020-01006-9)
- Dennison, C. et al. 2021. Risk factors, clinical features, and polygenic risk scores in schizophrenia and schizoaffective disorder depressive-type. Schizophrenia Bulletin 47(5), pp. 1375-1384. (10.1093/schbul/sbab036)
- Clifton, N. E. et al. 2021. Developmental profile of psychiatric risk associated with voltage-gated cation channel activity. Biological Psychiatry 90(6) (10.1016/j.biopsych.2021.03.009)
- Rees, E. et al. 2021. Schizophrenia, autism spectrum disorders and developmental disorders share specific disruptive coding mutations. Nature Communications 12, article number: 5353. (10.1038/s41467-021-25532-4)
- Martin, J. et al. 2021. Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression. PLoS ONE 16(9), article number: e0248254. (10.1371/journal.pone.0248254)
- Riglin, L. et al. 2021. ADHD and depression: investigating a causal explanation. Psychological Medicine 51(11), pp. 1890-1897. (10.1017/S0033291720000665)
- Quattrone, D. et al. 2021. The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study. Translational Psychiatry 11(1), article number: 423. (10.1038/s41398-021-01526-0)
- Legge, S. et al. 2021. Associations between schizophrenia polygenic liability, symptom dimensions, and cognitive ability in schizophrenia. JAMA Psychiatry 78(10), pp. 1143-1151. (10.1001/jamapsychiatry.2021.1961)
- Clifton, N. E. et al. 2021. Genetic association of FMRP targets with psychiatric disorders. Molecular Psychiatry 26, pp. 2977-2990. (10.1038/s41380-020-00912-2)
- Hubbard, L. et al. 2021. Rare copy number variations are associated with poorer cognition in schizophrenia. Biological Psychiatry 90(1), pp. 28-34. (10.1016/j.biopsych.2020.11.025)
- Byrne, E. et al. 2021. Conditional GWAS analysis to identify disorder-specific SNPs for psychiatric disorders. Molecular Psychiatry 26, pp. 2070-2081. (10.1038/s41380-020-0705-9)
- Hall, L. S. et al. 2021. Cis-effects on gene expression in the human prenatal brain associated with genetic risk for neuropsychiatric disorders. Molecular Psychiatry 26, pp. 2082-2088. (10.1038/s41380-020-0743-3)
- Amare, A. T. et al. 2021. Association of polygenic score for major depression with response to lithium in patients with bipolar disorder. Molecular Psychiatry 26, pp. 2457-2470. (10.1038/s41380-020-0689-5)
- Tigaret, C. M. et al. 2021. Neurotrophin receptor activation rescues cognitive and synaptic abnormalities caused by hemizygosity of the psychiatric risk gene Cacna1c. Molecular Psychiatry 26, pp. 1748-1760. (10.1038/s41380-020-01001-0)
- Mullins, N. et al. 2021. Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology. Nature Genetics 53, pp. 817-829. (10.1038/s41588-021-00857-4)
- Peterson, R. E. et al. 2021. Genome-wide analyses of smoking behaviors in schizophrenia: findings from the Psychiatric Genomics Consortium. Journal of Psychiatric Research 137, pp. 215-225. (10.1016/j.jpsychires.2021.02.027)
- Riglin, L. et al. 2021. Investigating attention‐deficit hyperactivity disorder and autism spectrum disorder traits in the general population: What happens in adult life?. Journal of Child Psychology and Psychiatry 62(4), pp. 449-457. (10.1111/jcpp.13297)
- Willcocks, I. et al. 2021. Clozapine metabolism is associated with absolute neutrophil count in individuals with treatment-resistant schizophrenia. Frontiers in Pharmacology 12, article number: 658734. (10.3389/fphar.2021.658734)
- Konte, B. et al. 2021. HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry. Translational Psychiatry 11, article number: 214. (10.1038/s41398-021-01322-w)
- Tripoli, G. et al. 2021. Jumping to conclusions, general intelligence, and psychosis liability: findings from the multi-centre EU-GEI case-control study. Psychological Medicine 51(4), pp. 623-633. (10.1017/S003329171900357X)
- Dennison, C. A. et al. 2021. Association of genetic liability for psychiatric disorders with accelerometer-assessed physical activity in the UK Biobank. PLoS ONE 16(3), article number: e0249189. (10.1371/journal.pone.0249189)
- Erzin, G. et al. 2021. Examining the association between exposome score for schizophrenia and functioning in schizophrenia, siblings, and healthy controls: Results from the EUGEI study. European Psychiatry 64(1), article number: e25. (10.1192/j.eurpsy.2021.19)
- Smeland, O. B. et al. 2021. Genome-wide association analysis of Parkinson's disease and schizophrenia reveals shared genetic architecture and identifies novel risk loci. Biological Psychiatry 89(3), pp. 227-235. (10.1016/j.biopsych.2020.01.026)
- Owen, M. J. and O'Donovan, M. C. 2021. Large-scale genomics: a paradigm shift in psychiatry?. Biological Psychiatry 89, pp. 5-7. (10.1016/j.biopsych.2020.01.017)
- Hannon, E. et al. 2021. DNA methylation meta-analysis reveals cellular alterations in psychosis and markers of treatment-resistant schizophrenia. eLife 10, article number: e58430. (10.7554/eLife.58430)
- Chauquet, S., Zhu, Z., O'Donovan, M., Walters, J., Wray, N. and Shah, S. 2021. Investigating the potential effects of antihypertensive medication on psychiatric disorders: a mendelian randomisation study. JAMA Psychiatry 78(6), pp. 623-631. (10.1001/jamapsychiatry.2021.0005)
- Hasmi, L. et al. 2021. What makes the psychosis 'clinical high risk' state risky: psychosis itself or the co-presence of a non-psychotic disorder?. Epidemiology and Psychiatric Sciences 30, article number: e53. (10.1017/S204579602100041X)
2020
- Pries, L. et al. 2020. Association of recent stressful life events with mental and physical health in the context of genomic and exposomic liability for schizophrenia. JAMA Psychiatry 77(12), pp. 1296-1304. (10.1001/jamapsychiatry.2020.2304)
- Ward, J. et al. 2020. The genomic basis of mood instability: identification of 46 loci in 363,705 UK Biobank participants, genetic correlation with psychiatric disorders, and association with gene expression and function. Molecular Psychiatry 25, pp. 3091-3099. (10.1038/s41380-019-0439-8)
- Pries, L. et al. 2020. Examining the independent and joint effects of genomic and exposomic liabilities for schizophrenia across the psychosis spectrum. Epidemiology and Psychiatric Sciences 29, article number: e182. (10.1017/S2045796020000943)
- Kendall, K. M. et al. 2020. Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: a data linkage study. BJPsych Open 6(6), article number: e139. (10.1192/bjo.2020.42)
- Legge, S. E. et al. 2020. The Duffy-null genotype and risk of infection. Human Molecular Genetics 29(20), pp. 3341-3349. (10.1093/hmg/ddaa208)
- Jones, H. J. et al. 2020. A Mendelian randomization study of the causal association between anxiety phenotypes and schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 183(6), pp. 360-369. (10.1002/ajmg.b.32808)
- van Os, J. et al. 2020. Replicated evidence that endophenotypic expression of schizophrenia polygenic risk is greater in healthy siblings of patients compared to controls, suggesting gene-environment interaction. The EUGEI study. Psychological Medicine 50(11), pp. 1884-1897. (10.1017/S003329171900196X)
- Wong, H., Wadon, M., Evans, A., Kirov, G., Modi, N., O'Donovan, M. and Thapar, A. 2020. Contribution of de novo and inherited rare copy number variants to very preterm birth. Journal of Medical Genetics 57(8), pp. 552-557. (10.1136/jmedgenet-2019-106619)
- Riglin, L. et al. 2020. Using genetics to examine a general liability to childhood psychopathology. Behavior Genetics 50, pp. 213-220. (10.1007/s10519-019-09985-4)
- Coleman, J. R. I. et al. 2020. Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank. Molecular Psychiatry 25, pp. 1430-1446. (10.1038/s41380-019-0546-6)
- Akingbuwa, W. A. et al. 2020. Genetic associations between childhood psychopathology and adult depression and associated traits in 42 998 individuals. JAMA Psychiatry 77(7), pp. 715-728. (10.1001/jamapsychiatry.2020.0527)
- Wong, H. S., Hopkins, L., O'Donovan, M. C., Thapar, A. and Modi, N. 2020. Pilot study to establish a prospective neonatal cohort: Study of Preterm Infants and Neurodevelopmental Genes (SPRING). Molecular Psychiatry 4(1), article number: e000648. (10.1136/bmjpo-2020-000648)
- Lee, S. C. et al. 2020. Area deprivation, urbanicity, severe mental illness and social drift — a population-based linkage study using routinely collected primary and secondary care data. Schizophrenia Research 220, pp. 130-140. (10.1016/j.schres.2020.03.044)
- Legge, S. et al. 2020. Clinical indicators of treatment-resistant psychosis. British Journal of Psychiatry 216(5), pp. 259-266. (10.1192/bjp.2019.120)
- Wadon, M., Modi, N., Wong, H., Thapar, A. and O'Donovan, M. 2020. Recent advances in the genetics of preterm birth. Annals of Human Genetics 84(3), pp. 205-213. (10.1111/ahg.12373)
- Martin, J. et al. 2020. A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. Translational Psychiatry 10, article number: 135. (10.1038/s41398-020-0821-y)
- Foley, C. et al. 2020. Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. British Journal of Psychiatry 216(5), pp. 275-279. (10.1192/bjp.2019.262)
- Szatkiewicz, J. P. et al. 2020. Characterization of single gene copy number variants in schizophrenia. Biological Psychiatry 87(8), pp. 736-744. (10.1016/j.biopsych.2019.09.023)
- Sullivan, S. A. et al. 2020. A population-based cohort study examining the incidence and impact of psychotic experiences from childhood to adulthood, and prediction of psychotic disorder. American Journal of Psychiatry 177(4), pp. 308-317. (10.1176/appi.ajp.2019.19060654)
- Richards, A. et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
- Lewis, K. J. et al. 2020. Comparison of genetic liability for sleep traits among individuals with Bipolar Disorder I or II and control participants. JAMA Psychiatry 77(3), pp. 303-310. (10.1001/jamapsychiatry.2019.4079)
- Glanville, K. P. et al. 2020. Classical human leukocyte antigen alleles and C4 haplotypes are not significantly associated with depression. Biological Psychiatry 87(5), pp. 419-430. (10.1016/j.biopsych.2019.06.031)
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2014
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2013
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2012
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2011
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2010
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2009
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2008
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2006
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2004
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2003
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2002
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2001
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2000
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1999
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1998
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1997
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1996
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1995
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1994
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1993
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1992
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1991
- O'Donovan, M. C. and McGuffin, P. 1991. Growing points in psychiatric genetics. British Journal of Hospital Medicine 46(6), pp. 359-360.
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1989
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Articles
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- O'Donovan, M. C. and Owen, M. J. 1999. Candidate-gene association studies of schizophrenia. American Journal of Human Genetics 65(3), pp. 587-592. (10.1086/302560)
- Jacobsen, N. J. et al. 1999. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Human Molecular Genetics 8(9), pp. 1631-1636. (10.1093/hmg/8.9.1631)
- Guy, C., Bowen, T., Jones, I. R., McCandless, F., Owen, M. J., Craddock, N. J. and O'Donovan, M. C. 1999. CTG18.1 and ERDA-1 CAG/CTG repeat size in bipolar disorder. Neurobiology of Disease 6(4), pp. 302-307. (10.1006/nbdi.1999.0249)
- Jones, A. C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P. J., Cheadle, J. P. and O'Donovan, M. C. 1999. Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis. Clinical Chemistry 45(8), pp. 1133-1140.
- Cardno, A. G. et al. 1999. CAG repeat length in the hKCa3 gene and symptom dimensions in schizophrenia. Biological Psychiatry 45(12), pp. 1592-1596. (10.1016/s0006-3223(99)00033-5)
- Sakuntabhai, A. et al. 1999. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nature Genetics 21(3), pp. 271-277.
- Franks, E., Guy, C., Jacobsen, N., Bowen, T., Owen, M. J., O'Donovan, M. C. and Craddock, N. J. 1999. Eleven trinucleotide repeat loci that map to chromosome 12 excluded from involvement in the pathogenesis of bipolar disorder. American Journal of Medical Genetics 88(1), pp. 67-70. (10.1002/(SICI)1096-8628(19990205)88:1<67::AID-AJMG12>3.0.CO;2-#)
- Guy, C. et al. 1999. No association between a polymorphic CAG repeat in the human potassium channel gene hKCa3 and bipolar disorder. American Journal of Medical Genetics 88(1), pp. 57-60. (10.1002/(sici)1096-8628(19990205)88:1%3C57::aid-ajmg10%3E3.0.co;2-6)
- Hoogendoorn, B., Owen, M. J., Oefner, P. J., Williams, N. M., Austin, J. and O'Donovan, M. C. 1999. Genotyping single nucleotide polymorphisms by primer extension and high performance liquid chromatography. Human Genetics 104(1), pp. 89-93. (10.1007/s004390050915)
- Li, T. et al. 1998. Analysis of CAG/CTG repeat size in Chinese subjects with schizophrenia and bipolar affective disorder using the repeat expansion detection method. Biological psychiatry 44(11), pp. 1160-1165. (10.1016/S0006-3223(97)00492-7)
- O'Donovan, M. C. et al. 1998. Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection. Genomics 52(1), pp. 44-49. (10.1006/geno.1998.5411)
- Bowen, T. et al. 1998. Further support for an association between a polymorphic CAG repeat in the hKCa3 gene and schizophrenia. Molecular Psychiatry 3(3), pp. 266-269. (10.1038/sj.mp.4000400)
- Oretti, R. G., O'Donovan, M. C., McGuffin, P. and Buckland, P. R. 1998. Tryptophan pyrrolase gene expression in an alcohol preferring and non-preferring mouse strain. Addiction Biology 3(1), pp. 71-77. (10.1080/13556219872362)
- Bowen, T. et al. 1998. Linked polymorphisms upstream of exons 1 and 2 of the human cholecystokinin gene are not associated with schizophrenia or bipolar disorder. Molecular Psychiatry 3(1), pp. 67-71. (10.1038/sj.mp.4000293)
- Cardno, A. G. et al. 1998. Association between functional psychosis and expanded CAG/CTG repeats is not explained by health stratification [comparative study]. Psychiatric Genetics 8(1), pp. 29-32. (10.1097/00041444-199800810-00005)
- Jones, L. et al. 1997. No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia. Molecular Psychiatry 2(6), pp. 478-482. (10.1038/sj.mp.4000297)
- Craddock, N. J. et al. 1997. Expanded CAG/CTG repeats in bipolar disorder: no correlation with phenotypic measures of illness severity. Biological psychiatry 42(10), pp. 876-881. (10.1016/s0006-3223(96)00516-1)
- Guy, C. et al. 1997. Exclusion of expansion of 50 CAG/CTG trinucleotide repeats in bipolar disorder. American Journal of Psychiatry 154(8), pp. 1146-1147.
- Speight, G. et al. 1997. Exclusion of CAG/CTG trinucleotide repeat loci which map to chromosome 4 in bipolar disorder and schizophrenia. American Journal of Medical Genetics 74(2), pp. 204-206. (10.1002/(SICI)1096-8628(19970418)74:2<204::AID-AJMG19>3.0.CO;2-M)
- O'Donovan, M. C. and Guy, C. 1997. Bias in the genomic distribution of CAG and CTG trinucleotide repeats. American Journal of Medical Genetics 74(1), pp. 62-64. (10.1002/(SICI)1096-8628(19970221)74:1<62::AID-AJMG14>3.0.CO;2-P)
- Craddock, N. J., O'Donovan, M. C. and Owen, M. J. 1996. Introducing Selfcite 2.0--career enhancing software. BMJ 313(7072), pp. 1659-1660. (10.1136/bmj.313.7072.1659)
- Cardno, A. G. et al. 1996. Expanded CAG/CTG repeats in schizophrenia. A study of clinical correlates. British Journal of Psychiatry 169(6), pp. 766-771. (10.1192/bjp.169.6.766)
- O'Donovan, M. C., Craddock, N. J., Guy, C., McGuffin, P. and Owen, M. J. 1996. Involvement of expanded trinucleotide repeats in common diseases. The Lancet 348(9043), pp. 1739-1740. (10.1016/s0140-6736(05)65870-9)
- O'Donovan, M. C. et al. 1996. Confirmation of association between expanded CAG/CTG repeats and both schizophrenia and bipolar disorder. Psychological Medicine -London- 26(6), pp. 1145-1153. (10.1017/s0033291700035868)
- Bowen, T. et al. 1996. Expansion of 50 CAG/CTG repeats excluded in schizophrenia by application of a highly efficient approach using repeat expansion detection and a PCR screening set. American Journal of Human Genetics 59(4), pp. 912-917.
- O'Donovan, M. C. 1996. Genetics of Mental disorders .1. Theoretical aspects - Mendlewicz,J, Papadimitriou,GN. British Journal of Psychiatry 168(2), pp. 256-256.
- O'Donovan, M. C. and Owen, M. J. 1996. Dynamic mutations and psychiatric genetics. Psychological Medicine 26(1), pp. 1-6. (10.1017/S0033291700033663)
- O'Donovan, M. C. et al. 1995. Expanded CAG repeats in schizophrenia and bipolar disorder [letter]. Nature Genetics 10(4), pp. 380-381. (10.1038/ng0895-380)
- Thapar, A., Gottesman, I. I., Owen, M. J., O'Donovan, M. C. and McGuffin, P. 1994. The genetics of mental retardation. The British Journal of Psychiatry 164(6), pp. 747. (10.1192/bjp.164.6.747)
- Spurlock, G., Buckland, P. R., O'Donovan, M. C. and McGuffin, P. 1994. Lack of effect of antidepressant drugs on the levels of mRNAs encoding serotonergic receptors, synthetic enzymes and 5HT transporter. Neuropharmacology 33(3-4), pp. 433-440. (10.1016/0028-3908(94)90073-6)
- Buckland, P. R., O'Donovan, M. C. and McGuffin, P. 1993. Clozapine and sulpiride up-regulate dopamine D3 receptor mRNA levels. Neuropharmacology 32(9), pp. 901-907. (10.1016/0028-3908(93)90146-T)
- McGuffin, P. and O'Donovan, M. C. 1993. Taking a balanced view on triazolam. British Medical Journal (BMJ) 306(6893), pp. 1690-1691. (10.1136/bmj.306.6893.1690-c)
- O'Donovan, M. C. and McGuffin, P. 1993. Correction: Short acting benzodiazepines. British Medical Journal (BMJ) 306(6886), pp. 1146-1146. (10.1136/bmj.306.6886.1146)
- O'Donovan, M. C. and McGuffin, P. 1993. Short acting benzodiazepines.. British Medical Journal (BMJ) 306(6883), pp. 945-946. (10.1136/bmj.306.6883.945)
- O'Donovan, M. C. 1993. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72(6), pp. 971-983. (10.1016/0092-8674(93)90585-E)
- Buckland, P. R., O'Donovan, M. C. and McGuffin, P. 1993. Both splicing variants of the dopamine D2 receptor mRNA are up-regulated by antipsychotic drugs. Neuroscience Letters 150(1), pp. 25-28. (10.1016/0304-3940(93)90099-7)
- O'Donovan, M. C., Buckland, P. R., Spurlock, G. and McGuffin, P. 1992. Bi-directional changes in the levels of messenger RNAs encoding γ-aminobutyric acidA receptor α subunits after flurazepam treatment. European Journal of Pharmacology: Molecular Pharmacology 226(4), pp. 335-341. (10.1016/0922-4106(92)90051-V)
- O'Donovan, M. C. and Owen, M. J. 1992. Advances and Retreats in the Molecular Genetics of Major Mental Illness. Annals of Medicine 24(3), pp. 171-177. (10.3109/07853899209147816)
- O'Donovan, M. C., Buckland, P. R. and McGuffin, P. 1992. Levels of GABAa receptor subunit mRNA in rat brain following flurazepam treatment. Journal of Psychopharmacology 6(3), pp. 364-369. (10.1177/026988119200600304)
- Buckland, P. R., O'Donovan, M. C. and McGuffin, P. 1992. Changes in dopamine D1, D2 and D3 receptor mRNA levels in rat brain following antipsychotic treatment. Psychopharmacology 106(4), pp. 479-483. (10.1007/BF02244818)
- Buckland, P. R., O'Donovan, M. C. and McGuffin, P. 1992. Changes in dopa decarboxylase mRNA but not tyrosine hydroxylase mRNA levels in rat brain following antipsychotic treatment. Psychopharmacology 108(1-2), pp. 98-102. (10.1007/BF02245292)
- Buckland, P. R., O'Donovan, M. C. and McGuffin, P. 1992. Lack of effect of chronic antipsychotic treatment on dopamine D5 receptor mRNA level. European Neuropsychopharmacology 2(4), pp. 405-409. (10.1016/0924-977X(92)90002-P)
- O'Donovan, M. C., Buckland, P. R. and McGuffin, P. 1992. The expression of neuroreceptor genes and benzodiazepine tolerance.. Clinical Neuropharmacology 15(Supp1), pp. 218A-219A. (10.1097/00002826-199201001-00114)
- O'Donovan, M. C. and McGuffin, P. 1991. Growing points in psychiatric genetics. British Journal of Hospital Medicine 46(6), pp. 359-360.
- Havard, H. L., Buckland, P. R., O'Donovan, M. C. and McGuffin, P. 1991. The effects of antidepressant drugs on kainate receptor mRNA levels. Neuropharmacology 30(6), pp. 675-677. (10.1016/0028-3908(91)90090-X)
- O'Donovan, M. C. and Buckland, P. R. 1991. Simultaneous quantification of several mRNA species by solution hybridisation with oligonucleotides. Nucleic Acids Research 19(12), pp. 3466. (10.1093/nar/19.12.3466)
- Espie, C., Pashley, A., Bonham, K., Sourindhrin, I. and O'Donovan, M. C. 1989. The mentally handicapped person with epilepsy: a comparative study investigating psychosocial functioning.. Journal of Mental Health Defiency Research 33(2), pp. 123-135.
Book sections
- O'Donovan, M. C. and Owen, M. J. 2003. Genetic findings in psychotic disorders. In: Soares, J. C. and Gershon, S. eds. Handbook of Medical Psychiatry. New York: Marcel Dekker, pp. 417-432.
- Owen, M. J. and O'Donovan, M. C. 2003. Schizophrenia and genetics. In: Plomin, R. et al. eds. Behavioral Genetics in the Postgenomic Era. Washington, DC: APA Books, pp. 463-480., (10.1037/10480-023)
- Zammit, S., O'Donovan, M. C. and Owen, M. J. 2002. Neurogenetics of schizophrenia. In: D'haenen, H., den Boer, J. A. and Willner, P. eds. Biological Psychiatry. Chichester: Wiley, pp. 663-671., (10.1002/0470854871.chxvii9)
- Thapar, A. and O'Donovan, M. C. 2002. Neurogenetics. In: D'haenen, H., den Boer, J. A. and Willner, P. eds. Biological Psychiatry. Chichester: Wiley, pp. 167-180., (10.1002/0470854871.chxii)
Books
- McGuffin, P., Owen, M. J., O'Donovan, M. C., Thapar, A. and Gottesman, I. I. 1994. Seminars in psychiatric genetics. Gaskell, Royal College of Psychiatrists.
Websites
- Crawford, K. et al. 2022. Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways. [Online]. medRxiv: Cold Spring Harbor Laboratory. (10.1101/2022.06.29.22276952) Available at: https://doi.org/10.1101/2022.06.29.22276952
- O'Brien, H. et al. 2019. Sex differences in gene expression in the human fetal brain. [Online]. bioRxiv. (10.1101/483636) Available at: https://doi.org/10.1101/483636
- Sims, R. et al. 2018. Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing. [Online]. bioRxiv. (10.1101/294629) Available at: https://doi.org/10.1101/294629
- Pardinas, A. et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. [Online]. bioRxiv. (10.1101/068593) Available at: http://dx.doi.org/10.1101/068593
Research
After obtaining my undergraduate qualifications in Physiology (BSc) and Medicine (MBChB) at the University of Glasgow, I specialized in psychiatry. I began my research career in 1989 as an MRC Training Fellow when I developed novel methods for quantitating mRNA, used these to show alterations in the relative expression of genes encoding subunits of GABAA receptors was a mechanism that contributes the biology of benzodiazepine tolerance, and obtained a PhD in Molecular Pharmacology.
1992-1993, I was an MRC Travelling Fellow at the laboratory of David Housman at MIT where I was a member of The Huntington's Disease Collaborative Research Group.
In 1993, I was appointed Senior Lecturer in the Department of Psychological Medicine, University of Wales College of Medicine, and was awarded a personal chair in Psychiatric Genetics in 1999. I have a broad interest in the molecular genetics and neurobiology of mental disorders and have held grants from many major funding bodies (MRC, Wellcome Trust, National Institute of Mental Health (USA), European Union) for molecular genetic studies of schizophrenia, bipolar disorder, dyslexia, ADHD, and Alzheimer's disease. I am currently the Chair of the Schizophrenia Working Group of the Psychiatric Genomics Consortium.
Biography
- Professor of Psychiatric Genetics, MRC Centre for Neuropsychiatric Genetics and Genomics, Department of Psychological Medicine and Neurology, School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK
- Senior Lecturer in Psychological Medicine, University of Wales College of Medicine, Heath Park, Cardiff, Wales; (Sept 1993-April 1999)
- Medical Research Council Travelling Fellow, Center for Cancer Research, Building E17/536, Massachusetts Institute of Technology, 77 Massachusetts Avenue, Cambridge 02139-4307, USA; (September 1992 - August 1993)
- Medical Research Council Training Fellow, Department of Psychological Medicine, University of Wales College of Medicine, Cardiff, Wales; (September 1989 - August 1992)
- Lecturer in Psychological Medicine, University of Wales College of Medicine, Cardiff, Wales; (March 1988 - August 1989).