Dr Antonio Pardiñas

Lecturer, Division of Psychological Medicine and Clinical Neurosciences

School of Medicine

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

My research is based around the role of genetic factors in the development of psychiatric disorders. Within the MRC Centre, I have worked with Professor James Walters for several years on treatment-resistant schizophrenia (TRS), widely recognised as the most disabling form of this disorder. I am a member of the Psychosis Research Theme and collaborate frequently with the Schizophrenia Working Group of the Psychiatric Genomics Consortium. I am also involved in the development of the CRIS system with NCMH and Cardiff and Vale University Health Board.

Recently, I have been supported by an Academy of Medical Sciences Springboard Award to lead a project on "Pharmacogenomics of Antipsychotic Treatment and Response" (PATRON, 2020-2022), which will be focused on the antipsychotic clozapine. Clozapine is the only drug licensed in the UK for the treatment of TRS. While it is known to improve the symptoms of many individuals, is also underprescribed and treatment is often abandoned early on the basis of poor efficacy or adverse side effects. The PATRON project aims to understand why this happens, and translate any new knowledge into a more effective use of this medication.

Researchers can find data related to publications I have been involved with in the Walters Group website.

2021

Alonso-Llamazares, C.et al. 2021. Assessing individual and population variability in degenerative joint disease prevalence using generalized linear mixed models. American Journal of Physical Anthropology 175(3), pp. 611-625. (10.1002/ajpa.24195)
Di Florio, A.et al. 2021. Postpartum psychosis and its relationship with bipolar disorder: a polygenic risk score analysis in the UK. The Lancet Psychiatry
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)
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)
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)
Clifton, N. E.et al. 2021. Developmental profile of psychiatric risk associated with voltage-gated cation channel activity. Biological Psychiatry (10.1016/j.biopsych.2021.03.009)
Legge, S.et al. 2021. Associations between schizophrenia polygenic liability, symptom dimensions and cognitive ability in schizophrenia. JAMA Psychiatry

2020

Santiago, E.et al. 2020. Recent demographic history inferred by high-resolution analysis of linkage disequilibrium. Molecular Biology and Evolution 37(12), pp. 3642-3653. (10.1093/molbev/msaa169)
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)
Grama, S.et al. 2020. Polygenic risk for schizophrenia and subcortical brain anatomy in the UK Biobank cohort. Translational Psychiatry 10, article number: 309. (10.1038/s41398-020-00940-0)
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)
Byrne, E.et al. 2020. Conditional GWAS analysis to identify disorder-specific SNPs for psychiatric disorders. Molecular Psychiatry (10.1038/s41380-020-0705-9)
Richards, A.et al. 2020. The relationship between polygenic risk scores and cognition in schizophrenia. Schizophrenia Bulletin 46(2), pp. -. (10.1093/schbul/sbz061)
Dennison, C. A.et al. 2020. Genome-wide association studies in schizophrenia: Recent advances, challenges and future perspective. Schizophrenia Research 217, pp. 4-12. (10.1016/j.schres.2019.10.048)
Rees, E.et al. 2020. De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia. Nature Neuroscience 23(2), pp. 179-184. (10.1038/s41593-019-0565-2)
Cleynen, I.et al. 2020. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular Psychiatry (10.1038/s41380-020-0654-3)
Hall, L. S.et al. 2020. A transcriptome-wide association study implicates specific pre- and post-synaptic abnormalities in schizophrenia. Human Molecular Genetics 29(1), pp. 159-167. (10.1093/hmg/ddz253)

2019

Legge, S. E.et al. 2019. Association of genetic liability to psychotic experiences with neuropsychotic disorders and traits. JAMA Psychiatry 76(12), pp. 1256-1265. (10.1001/jamapsychiatry.2019.2508)
Chapman, R. M.et al. 2019. Convergent evidence that ZNF804A is a regulator of pre-messenger RNA processing and gene expression. Schizophrenia Bulletin 45(6), pp. 1267-1278. (10.1093/schbul/sby183)
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)
Pain, O.et al. 2019. Novel insight into the etiology 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)
Escott-Price, V.et al. 2019. The relationship between common variant schizophrenia liability and number of offspring in the UK Biobank. American Journal of Psychiatry 176(8), pp. 661-666. (10.1176/appi.ajp.2018.18020140)
Pardinas, A. F.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)
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)

2018

Li, M.et al. 2018. Integrative functional genomic analysis of human brain development and neuropsychiatric risks. Science 362(6420), 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. F.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)
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)
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

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)

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