Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in context

Summary: Background: People with schizophrenia differ in the type and severity of symptoms experienced, as well as their response to medication. A better understanding of the factors that influence this heterogeneity is necessary for the development of individualised patient care. Here, we sought t...

Full description

Saved in:
Bibliographic Details
Main Authors: Siobhan K. Lock, Djenifer B. Kappel, Michael J. Owen, James T.R. Walters, Michael C. O'Donovan, Antonio F. Pardiñas, Sophie E. Legge
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:EBioMedicine
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396425001896
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850277625156599808
author Siobhan K. Lock
Djenifer B. Kappel
Michael J. Owen
James T.R. Walters
Michael C. O'Donovan
Antonio F. Pardiñas
Sophie E. Legge
author_facet Siobhan K. Lock
Djenifer B. Kappel
Michael J. Owen
James T.R. Walters
Michael C. O'Donovan
Antonio F. Pardiñas
Sophie E. Legge
author_sort Siobhan K. Lock
collection DOAJ
description Summary: Background: People with schizophrenia differ in the type and severity of symptoms experienced, as well as their response to medication. A better understanding of the factors that influence this heterogeneity is necessary for the development of individualised patient care. Here, we sought to investigate the relationships between phenotypic severity and both medication and pharmacogenomic variables in a cross-sectional sample of people with schizophrenia or schizoaffective disorder depressed type. Methods: Confirmatory factor analysis derived five dimensions relating to current symptom severity (positive symptoms, negative symptoms of diminished expressivity, negative symptoms of reduced motivation and pleasure, depression and suicide) and cognitive ability in participants prescribed with antipsychotic medication. Linear models were fit to test for associations between medication and pharmacogenomic variables with dimension scores in the full sample (N = 585), and in a sub-sample of participants prescribed clozapine (N = 215). Findings: Lower cognitive ability was associated with higher chlorpromazine-equivalent daily antipsychotic dose (β = −0.12; 95% CI, −0.19 to −0.05; p = 0.001) and with the prescription of clozapine (β = −0.498; 95% CI, −0.65 to −0.35; p = 3 × 10−10) and anticholinergic medication (β = −0.345; 95% CI, −0.55 to −0.14; p = 8 × 10−4). We also found associations between pharmacogenomics-inferred cytochrome P450 (CYP) enzyme activity and symptom dimensions. Increased genotype-predicted CYP2C19 and CYP3A5 activity were associated with reduced severity of the positive (β = −0.108; 95% CI, −0.19 to −0.03; p = 0.009) and both negative symptom dimensions (β = −0.113; 95% CI, −0.19 to −0.03; p = 0.007; β = −0.106; 95% CI, −0.19 to −0.02; p = 0.012), respectively. Faster predicted CYP1A2 activity was associated with higher cognitive dimension scores in people taking clozapine (β = 0.17; 95% CI, 0.05–0.29; p = 0.005). Interpretation: Our results confirm the importance of taking account of medication history (and particularly antipsychotic type and dose) in assessing potential correlates of cognitive impairment or poor functioning in patients with schizophrenia. We also highlight the potential for pharmacogenomic variation to be a useful tool to help guide drug prescription, although these findings require further validation. Funding: Medical Research Council (MR/Y004094/1) and The National Center for Mental Health, funded by the Welsh Government through Health and Care Research Wales. SKL was funded by a PhD studentship from Mental Health Research UK (MHRUK). DBK, JTRW, MCOD and AFP were supported by the European Union’s Horizon 2020 research and innovation programme under grant agreement 964874.
format Article
id doaj-art-be373480801a49fa96fa97e893e83ab2
institution OA Journals
issn 2352-3964
language English
publishDate 2025-06-01
publisher Elsevier
record_format Article
series EBioMedicine
spelling doaj-art-be373480801a49fa96fa97e893e83ab22025-08-20T01:49:48ZengElsevierEBioMedicine2352-39642025-06-0111610574510.1016/j.ebiom.2025.105745Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in contextSiobhan K. Lock0Djenifer B. Kappel1Michael J. Owen2James T.R. Walters3Michael C. O'Donovan4Antonio F. Pardiñas5Sophie E. Legge6Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, CF24 4HQ, United KingdomCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, CF24 4HQ, United KingdomCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, CF24 4HQ, United KingdomCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, CF24 4HQ, United KingdomCentre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, CF24 4HQ, United KingdomCorresponding author.; Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, CF24 4HQ, United KingdomCorresponding author.; Centre for Neuropsychiatric Genetics and Genomics, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, Wales, CF24 4HQ, United KingdomSummary: Background: People with schizophrenia differ in the type and severity of symptoms experienced, as well as their response to medication. A better understanding of the factors that influence this heterogeneity is necessary for the development of individualised patient care. Here, we sought to investigate the relationships between phenotypic severity and both medication and pharmacogenomic variables in a cross-sectional sample of people with schizophrenia or schizoaffective disorder depressed type. Methods: Confirmatory factor analysis derived five dimensions relating to current symptom severity (positive symptoms, negative symptoms of diminished expressivity, negative symptoms of reduced motivation and pleasure, depression and suicide) and cognitive ability in participants prescribed with antipsychotic medication. Linear models were fit to test for associations between medication and pharmacogenomic variables with dimension scores in the full sample (N = 585), and in a sub-sample of participants prescribed clozapine (N = 215). Findings: Lower cognitive ability was associated with higher chlorpromazine-equivalent daily antipsychotic dose (β = −0.12; 95% CI, −0.19 to −0.05; p = 0.001) and with the prescription of clozapine (β = −0.498; 95% CI, −0.65 to −0.35; p = 3 × 10−10) and anticholinergic medication (β = −0.345; 95% CI, −0.55 to −0.14; p = 8 × 10−4). We also found associations between pharmacogenomics-inferred cytochrome P450 (CYP) enzyme activity and symptom dimensions. Increased genotype-predicted CYP2C19 and CYP3A5 activity were associated with reduced severity of the positive (β = −0.108; 95% CI, −0.19 to −0.03; p = 0.009) and both negative symptom dimensions (β = −0.113; 95% CI, −0.19 to −0.03; p = 0.007; β = −0.106; 95% CI, −0.19 to −0.02; p = 0.012), respectively. Faster predicted CYP1A2 activity was associated with higher cognitive dimension scores in people taking clozapine (β = 0.17; 95% CI, 0.05–0.29; p = 0.005). Interpretation: Our results confirm the importance of taking account of medication history (and particularly antipsychotic type and dose) in assessing potential correlates of cognitive impairment or poor functioning in patients with schizophrenia. We also highlight the potential for pharmacogenomic variation to be a useful tool to help guide drug prescription, although these findings require further validation. Funding: Medical Research Council (MR/Y004094/1) and The National Center for Mental Health, funded by the Welsh Government through Health and Care Research Wales. SKL was funded by a PhD studentship from Mental Health Research UK (MHRUK). DBK, JTRW, MCOD and AFP were supported by the European Union’s Horizon 2020 research and innovation programme under grant agreement 964874.http://www.sciencedirect.com/science/article/pii/S2352396425001896SchizophreniaPharmacogenomicsAntipsychoticsClozapineSymptom severityCognition
spellingShingle Siobhan K. Lock
Djenifer B. Kappel
Michael J. Owen
James T.R. Walters
Michael C. O'Donovan
Antonio F. Pardiñas
Sophie E. Legge
Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in context
EBioMedicine
Schizophrenia
Pharmacogenomics
Antipsychotics
Clozapine
Symptom severity
Cognition
title Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in context
title_full Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in context
title_fullStr Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in context
title_full_unstemmed Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in context
title_short Antipsychotic and pharmacogenomic effects on cross-sectional symptom severity and cognitive ability in schizophreniaResearch in context
title_sort antipsychotic and pharmacogenomic effects on cross sectional symptom severity and cognitive ability in schizophreniaresearch in context
topic Schizophrenia
Pharmacogenomics
Antipsychotics
Clozapine
Symptom severity
Cognition
url http://www.sciencedirect.com/science/article/pii/S2352396425001896
work_keys_str_mv AT siobhanklock antipsychoticandpharmacogenomiceffectsoncrosssectionalsymptomseverityandcognitiveabilityinschizophreniaresearchincontext
AT djeniferbkappel antipsychoticandpharmacogenomiceffectsoncrosssectionalsymptomseverityandcognitiveabilityinschizophreniaresearchincontext
AT michaeljowen antipsychoticandpharmacogenomiceffectsoncrosssectionalsymptomseverityandcognitiveabilityinschizophreniaresearchincontext
AT jamestrwalters antipsychoticandpharmacogenomiceffectsoncrosssectionalsymptomseverityandcognitiveabilityinschizophreniaresearchincontext
AT michaelcodonovan antipsychoticandpharmacogenomiceffectsoncrosssectionalsymptomseverityandcognitiveabilityinschizophreniaresearchincontext
AT antoniofpardinas antipsychoticandpharmacogenomiceffectsoncrosssectionalsymptomseverityandcognitiveabilityinschizophreniaresearchincontext
AT sophieelegge antipsychoticandpharmacogenomiceffectsoncrosssectionalsymptomseverityandcognitiveabilityinschizophreniaresearchincontext