Dr Antonio Pardiñas

Lecturer, Division of Psychological Medicine and Clinical Neurosciences

School of Medicine

Email:: pardinasa@cardiff.ac.uk
Telephone:: +44 (0)29 2068 8407
Location:: 2.30, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ

My research is based on the application of population-genetics methodology to the assessment of the genetic architecture of psychiatric disorders. At the moment, my efforts are directed towards treatment-resistant schizophrenia (TRS). TRS is widely recognised as the most disabling form of schizophrenia, estimated to affect around 1 million individuals in Europe and responsible for a large economic impact in public health. Only one drug to date, clozapine, has been licensed in the UK for the effective treatment of this condition, with no other successful developments occurring in the last four decades. Understanding the biological mechanisms behind such a complex and severe disorder might elucidate potential opportunities for translating genetic knowledge into therapeutic or drug discovery approaches.

2019

Hall, L. S.et al. 2019. A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia. Human Molecular Genetics (10.1093/hmg/ddz253)
D'Ambrosio, E.et al. 2019. The effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: A PET imaging study. Psychiatry Research: Neuroimaging 291, pp. 34-41. (10.1016/j.pscychresns.2019.07.005)
Legge, S.et al. 2019. Association of Genetic Liability to Psychotic Experiences With Neuropsychotic Disorders and Traits. JAMA Psychiatry (10.1001/jamapsychiatry.2019.2508)
Pain, O.et al. 2019. Novel insight into the aetiology of autism spectrum disorder gained by integrating expression data with genome-wide association statistics. Biological Psychiatry 86(4), pp. 265-273. (10.1016/j.biopsych.2019.04.034)
Richards, A.et al. 2019. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin (10.1093/schbul/sbz061)
Legge, S.et al. 2019. Clinical indicators of treatment-resistant psychosis. British Journal of Psychiatry (10.1192/bjp.2019.120)
Pardinas, A.et al. 2019. Pharmacogenomic variants and drug interactions identified through the genetic analysis of clozapine metabolism. American Journal of Psychiatry 176(6), pp. 477-486. (10.1176/appi.ajp.2019.18050589)
Pettersson, E.et al. 2019. Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls. Psychological Medicine 49(7), pp. 1166-1173. (10.1017/S0033291718002039)
Huckins, L. M.et al. 2019. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics 51, pp. 659-674. (10.1038/s41588-019-0364-4)
Rees, E.et al. 2019. Targeted sequencing of 10,198 samples confirms abnormalities in neuronal activity and implicates voltage-gated sodium channels in schizophrenia pathogenesis. Biological Psychiatry 85(7), pp. 554-562. (10.1016/j.biopsych.2018.08.022)
Huckins, L.et al. 2019. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nature Genetics 51, pp. 659-674. (10.1038/s41588-019-0364-4)
Legge, S. E.et al. 2019. A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia. Molecular Psychiatry 24, pp. 328-337. (10.1038/s41380-018-0335-7)
Rees, E.et al. 2019. Analyses of de novo and common alleles implicate rare missense variants in SLC6A1 in schizophrenia. Nature Neuroscience

2018

Li, M.et al. 2018. Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science 362(6420), pp. -., article number: eaat7615. (10.1126/science.aat7615)
O'Brien, H. E.et al. 2018. Expression quantitative trait loci in the developing human brain and their enrichment in neuropsychiatric disorders. Genome Biology 19, article number: 194. (10.1186/s13059-018-1567-1)
Dahoun, T.et al. 2018. The effect of the DISC1 Ser704Cys polymorphism on striatal dopamine synthesis capacity: an [18F]-DOPA PET study. Human Molecular Genetics 27(20), pp. 3498-3506. (10.1093/hmg/ddy242)
Alonso-Llamazares, C.et al. 2018. Medical diagnostic methods applied to a medieval female with vitamin D deficiency from the North of Spain. International Journal of Paleopathology 22, pp. 109-120. (10.1016/j.ijpp.2018.07.007)
Skene, N. G.et al. 2018. Genetic identification of brain cell types underlying schizophrenia. Nature Genetics 50, pp. 825-833. (10.1038/s41588-018-0129-5)
Pardinas, A.et al. 2018. Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. Nature Genetics 50, pp. 381-389. (10.1038/s41588-018-0059-2)

2017

Gomes, C.et al. 2017. Phenotyping the ancient world: the physical appearance and ancestry of very degraded samples from a chalcolithic human remains. Forensic Science International: Genetics Supplement Series 6, pp. e484-e486. (10.1016/j.fsigss.2017.09.188)
Hensman Moss, D. J.et al. 2017. Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study. Lancet Neurology 16(9), pp. 701-711. (10.1016/S1474-4422(17)30161-8)
Lopez, B.et al. 2017. Treponemal disease in the Old World? Integrated paleopathological assessment of a 9th-11th century skeleton from North-Central Spain. Anthropological Science 125(2), pp. 101-114. (10.1537/ase.170515)
Allardyce, J.et al. 2017. Psychosis and the level of mood incongruence in Bipolar Disorder are related to genetic liability for Schizophrenia. bioRxiv
Legge, S. E.et al. 2017. Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia. Molecular Psychiatry 22, pp. 1502-1508. (10.1038/mp.2016.97)

2016

Huelga-Suarez, G.et al. 2016. The quest for the Soldier's Rest: Combining anthropological and archaeochemical approaches to study social and occupational diversity in the Medieval graveyard of San Andres de Arroyo (Palencia, Spain). Anthropological Science 124(3), article number: 161005. (10.1537/ase.161005)
Rees, E.et al. 2016. Analysis of intellectual disability copy number variants for association with schizophrenia. JAMA Psychiatry 73(9), pp. 963-969. (10.1001/jamapsychiatry.2016.1831)
Pardinas, A.et al. 2016. Common schizophrenia alleles are enriched in mutation-intolerant genes and maintained by background selection. bioRxiv, pp. -. (10.1101/068593)
Aas, M.et al. 2016. Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014 [Conference Material]. Psychiatric Genetics 26(1), pp. 1-47. (10.1097/YPG.0000000000000112)