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1. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Author

Thygesen, Johan H, Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Lin, Kuang, Alizadeh, Behrooz Z, Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Liewe, de Zwarte, Sonja MC, Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen, Luykx, Jurjen J, Mata, Igancio, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel, Picchioni, Marco, Prata, Diana P, Ranlund, Siri, Rujescu, Dan, Rutten, Bart PF, Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia JP, Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje, van Os, Jim, van Winkel, Ruud, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M, Murray, Robin M, and Bramon, Elvira

Subjects
Biological Psychology, Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Psychology, Human Genome, Clinical Research, Brain Disorders, Serious Mental Illness, Schizophrenia, Neurosciences, Genetics, Prevention, Mental Health, 2.1 Biological and endogenous factors, 2.3 Psychological, social and economic factors, Aetiology, Mental health, Cognition, DNA Copy Number Variations, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Psychotic Disorders, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb,

Published
2021

2. Identification and evaluation of endophenotypes and biomarkers of schizophrenia and bipolar disorder : genomic dissection of the psychosis phenotype

Author

Zartaloudi, Eirini

Abstract

Background: Psychotic disorders affect approximately 3% of the population. Over 100 genetic variants have been associated with schizophrenia and about 50 with bipolar disorder. Each of them individually has a small effect on disease risk but combined in a cumulative polygenic risk score (PRS), they have a major impact. Copy number variants (CNVs) have also been associated with schizophrenia. However, little is known about their functional effects. The investigation of endophenotypes, which fall in the genotype to phenotype pathway, could help us understand the role of genetic variants and their mechanisms. Methods: In chapter 1 of my thesis, I reviewed the literature on endophenotypes, and genetic variants associated with psychosis, which revealed that the interrelationships between several well-established cognitive, neuroimaging and electrophysiological psychosis endophenotypes, and the joint contributions of CNV burden and polygenic risk scores on psychosis risk have not been studied yet. I investigated those topics in chapters 3 and 4 respectively. In chapter 2 I carried out a scoping review of CNVs associated with neurodevelopmental disorders, psychosis and cognition and carried out a meta-analysis of 16p11.2 distal deletion in schizophrenia. I also investigated the influences of CNV size on schizophrenia risk for 53 CNVs. For all the analyses, I used CNVcatalog, which is a new repository me and my supervisors created, incorporating data from published studies examining associations of CNV loci with several clinical phenotypes, including schizophrenia. Finally, in chapter 5 I summarise the main findings of my thesis and I discuss the strengths, limitations and clinical implications of my research. Results: Chapter 2: The meta-analysis of 16p11.2 distal deletion in schizophrenia revealed that carriers of that CNV had higher risk of developing schizophrenia compared to non carriers. I also found that larger CNV size was associated with larger effect sizes when examining all CNVs together (both deletions and duplications) and CNV deletions. However, the size was not significanly associated with disease risk for CNV duplications. Chapter 3: All the cognitive endophenotypes were associated with each other. Endophenotypes across imaging, cognitive and electrophysiological domains did not show a correlation. The relationships between pairs of endophenotypes were consistent in all three participant groups (cases with psychosis, their unaffected relatives and healthy controls), differing for some of the cognitive pairings only in the strengths of the relationships. Chapter 4: I examined the joint contributions of CNV burden and polygenic risk scores on psychosis risk. I analysed two datasets separately and then combined them by meta-analysis. CNV burden and PRS could explain 11.8% and 10.8% of the variance in disease risk in each dataset. The classification accuracy of my models was 81%, 83% and 77% for the comparisons of all psychosis cases vs controls, schizophrenia cases vs controls and bipolar cases vs controls respectively. The addition of CNV burden to the models increased the variance explained only by 0.1% for MPL dataset and by 0.08% in the PEIC dataset. Discussion: Findings from my thesis contribute to our current knowledge on psychosis endophenotypes and on the genetic influences in psychoses. Deciphering the genetic architecture of psychotic disorders could hopefully in the future improve the lives of affected individuals.

Published
2021

4. Study protocol of DIVERGE, the first genetic epidemiological study of major depressive disorder in Pakistan

Author

Valkovskaya, Maria, Hassan, Arsalan, Zartaloudi, Eirini, Hussain, Fahad, Umar, Muhammad, Khizar, Bakht, Khattak, Inzemam, Gill, Shamshad Ahmed, Khan, Shams-Ud-Din Ahmad, Dogar, Imtiaz Ahmad, Mustafa, Ali Burhan, Ansari, Moin Ahmed, Qalb I Hyder, Syed, Ali, Muhammad, Ilyas, Nilofar, Channar, Parveen, Mughal, Nazish, Channa, Sumera, Mufti, Khalid, Mufti, Ali Ahsan, Hussain, Mian Iftikhar, Shafiq, Sadia, Tariq, Muhammad, Khan, Muhammad Kamran, Chaudhry, Shahzad Tahir, Choudhary, Abdul Rashid, Ali, Mian Nizam, Ali, Gohar, Hussain, Ashfaq, Rehman, Muhammad, Ahmad, Noman, Farooq, Saeed, Naeem, Farooq, Nasr, Tanveer, Lewis, Glyn, Knowles, James A., Ayub, Muhammad, and Kuchenbaecker, Karoline

Published
2023
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9. Psychosis Endophenotypes: A Gene-Set-Specific Polygenic Risk Score Analysis.

Author

Wang, Baihan, Irizar, Haritz, Thygesen, Johan H, Zartaloudi, Eirini, Austin-Zimmerman, Isabelle, Bhat, Anjali, Harju-Seppänen, Jasmine, Pain, Oliver, Bass, Nick, Gkofa, Vasiliki, Alizadeh, Behrooz Z, Amelsvoort, Therese van, Arranz, Maria J, Bender, Stephan, Cahn, Wiepke, Calafato, Maria Stella, Crespo-Facorro, Benedicto, Forti, Marta Di, Study, Genetic Risk and Outcome of Psychosis (GROUP), and Giegling, Ina

Subjects
SCHIZOPHRENIA risk factors, GENETICS of schizophrenia, GENETICS of bipolar disorder, ELECTROENCEPHALOGRAPHY, GENETIC testing, RISK assessment, NEURAL development, DESCRIPTIVE statistics, PHENOTYPES, BIPOLAR disorder, DISEASE risk factors
Abstract

Background and Hypothesis Endophenotypes can help to bridge the gap between psychosis and its genetic predispositions, but their underlying mechanisms remain largely unknown. This study aims to identify biological mechanisms that are relevant to the endophenotypes for psychosis, by partitioning polygenic risk scores into specific gene sets and testing their associations with endophenotypes. Study Design We computed polygenic risk scores for schizophrenia and bipolar disorder restricted to brain-related gene sets retrieved from public databases and previous publications. Three hundred and seventy-eight gene-set-specific polygenic risk scores were generated for 4506 participants. Seven endophenotypes were also measured in the sample. Linear mixed-effects models were fitted to test associations between each endophenotype and each gene-set-specific polygenic risk score. Study Results After correction for multiple testing, we found that a reduced P300 amplitude was associated with a higher schizophrenia polygenic risk score of the forebrain regionalization gene set (mean difference per SD increase in the polygenic risk score: −1.15 µV; 95% CI: −1.70 to −0.59 µV; P = 6 × 10−5). The schizophrenia polygenic risk score of forebrain regionalization also explained more variance of the P300 amplitude (R 2 = 0.032) than other polygenic risk scores, including the genome-wide polygenic risk scores. Conclusions Our finding on reduced P300 amplitudes suggests that certain genetic variants alter early brain development thereby increasing schizophrenia risk years later. Gene-set-specific polygenic risk scores are a useful tool to elucidate biological mechanisms of psychosis and endophenotypes, offering leads for experimental validation in cellular and animal models. [ABSTRACT FROM AUTHOR]

Published
2023
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10. Associations of antidepressants and antipsychotics with lipid parameters: Do CYP2C19/CYP2D6 genes play a role? A UK population-based study

Author

Richards-Belle, Alvin, primary, Austin-Zimmerman, Isabelle, additional, Wang, Baihan, additional, Zartaloudi, Eirini, additional, Cotic, Marius, additional, Gracie, Caitlin, additional, Saadullah Khani, Noushin, additional, Wannasuphoprasit, Yanisa, additional, Wronska, Marta, additional, Dawda, Yogita, additional, Osborn, David PJ, additional, and Bramon, Elvira, additional

Published
2023
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11. Study protocol of DIVERGE, the first genetic epidemiological study of major depressive disorder in Pakistan

Author

Valkovskaya, Maria, primary, Hassan, Arsalan, additional, Zartaloudi, Eirini, additional, Hussain, Fahad, additional, Umar, Muhammad, additional, Khizar, Bakht, additional, Khattak, Inzemam, additional, Gill, Shamshad Ahmed, additional, Khan, Shams-Ud-Din Ahmad, additional, Dogar, Imtiaz Ahmad, additional, Mustafa, Ali Burhan, additional, Ansari, Moin Ahmed, additional, Qalb I Hyder, Syed, additional, Ali, Muhammad, additional, Ilyas, Nilofar, additional, Channar, Parveen, additional, Mughal, Nazish, additional, Channa, Sumera, additional, Mufti, Khalid, additional, Mufti, Ali Ahsan, additional, Hussain, Mian Iftikhar, additional, Shafiq, Sadia, additional, Tariq, Muhammad, additional, Khan, Muhammad Kamran, additional, Chaudhry, Shahzad Tahir, additional, Choudhary, Abdul Rashid, additional, Ali, Mian Nizam, additional, Ali, Gohar, additional, Hussain, Ashfaq, additional, Rehman, Muhammad, additional, Ahmad, Noman, additional, Farooq, Saeed, additional, Naeem, Farooq, additional, Nasr, Tanveer, additional, Lewis, Glyn, additional, Knowles, James A., additional, Ayub, Muhammad, additional, and Kuchenbaecker, Karoline, additional

Published
2022
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12. sj-docx-1-jop-10.1177_02698811231152748 – Supplemental material for Associations of antidepressants and antipsychotics with lipid parameters: Do CYP2C19/CYP2D6 genes play a role? A UK population-based study

Author

Richards-Belle, Alvin, Austin-Zimmerman, Isabelle, Wang, Baihan, Zartaloudi, Eirini, Cotic, Marius, Gracie, Caitlin, Saadullah Khani, Noushin, Wannasuphoprasit, Yanisa, Wronska, Marta, Dawda, Yogita, Osborn, David PJ, and Bramon, Elvira

Subjects
FOS: Psychology, FOS: Clinical medicine, 170199 Psychology not elsewhere classified, 110319 Psychiatry (incl. Psychotherapy), 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplemental material, sj-docx-1-jop-10.1177_02698811231152748 for Associations of antidepressants and antipsychotics with lipid parameters: Do CYP2C19/CYP2D6 genes play a role? A UK population-based study by Alvin Richards-Belle, Isabelle Austin-Zimmerman, Baihan Wang, Eirini Zartaloudi, Marius Cotic, Caitlin Gracie, Noushin Saadullah Khani, Yanisa Wannasuphoprasit, Marta Wronska, Yogita Dawda, David PJ Osborn and Elvira Bramon in Journal of Psychopharmacology

Published
2023
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13. CYP2D6 Genetic Variation and Antipsychotic-Induced Weight Gain:A Systematic Review and Meta-Analysis

Author

Wannasuphoprasit, Yanisa, Andersen, Stig Ejdrup, Arranz, Maria J., Catalan, Rosa, Jurgens, Gesche, Kloosterboer, Sanne Maartje, Rasmussen, Henrik Berg, Bhat, Anjali, Irizar, Haritz, Koller, Dora, Polimanti, Renato, Wang, Baihan, Zartaloudi, Eirini, Austin-Zimmerman, Isabelle, Bramon, Elvira, Wannasuphoprasit, Yanisa, Andersen, Stig Ejdrup, Arranz, Maria J., Catalan, Rosa, Jurgens, Gesche, Kloosterboer, Sanne Maartje, Rasmussen, Henrik Berg, Bhat, Anjali, Irizar, Haritz, Koller, Dora, Polimanti, Renato, Wang, Baihan, Zartaloudi, Eirini, Austin-Zimmerman, Isabelle, and Bramon, Elvira

Abstract

Background: Antipsychotic-induced weight gain is a contributing factor in the reduced life expectancy reported amongst people with psychotic disorders. CYP2D6 is a liver enzyme involved in the metabolism of many commonly used antipsychotic medications. We investigated if CYP2D6 genetic variation influenced weight or BMI among people taking antipsychotic treatment. Methods: We conducted a systematic review and a random effects meta-analysis of publications in Pubmed, Embase, PsychInfo, and CENTRAAL that had BMI and/or weight measurements of patients on long-term antipsychotics by their CYP2D6-defined metabolic groups (poor, intermediate, normal/extensive, and ultra-rapid metabolizers, UMs). Results: Twelve studies were included in the systematic review. All cohort studies suggested that the presence of reduced-function or non-functional alleles for CYP2D6 was associated with greater antipsychotic-induced weight gain, whereas most cross-sectional studies did not find any significant associations. Seventeen studies were included in the meta-analysis with clinical data of 2,041 patients, including 93 poor metabolizers (PMs), 633 intermediate metabolizers (IMs), 1,272 normal metabolizers (NMs), and 30 UMs. Overall, we did not find associations in any of the comparisons made. The estimated pooled standardized differences for the following comparisons were (i) PM versus NM; weight = –0.07 (95%CI: –0.49 to 0.35, p = 0.74), BMI = 0.40 (95%CI: –0.19 to 0.99, p = 0.19). (ii) IM versus NM; weight = 0.09 (95% CI: –0.04 to 0.22, p = 0.16) and BMI = 0.09 (95% CI: –0.24 to 0.41, p = 0.60). (iii) UM versus EM; weight = 0.01 (95% CI: –0.37 to 0.40, p = 0.94) and BMI = –0.08 (95%CI: –0.57 to 0.42, p = 0.77). Conclusion: Our systematic review of cohort studies suggested that CYP2D6 poor metabolizers have higher BMI than normal metabolizers, but the data of cross-sectional studies and the meta-analysis did not show this association. Although our review and meta-analysis constitutes o

Published
2022

14. Associations of antidepressants and antipsychotics with lipid parameters: Do CYP2C19 / CYP2D6 genes play a role? A UK population-based study.

Author

Richards-Belle, Alvin, Austin-Zimmerman, Isabelle, Wang, Baihan, Zartaloudi, Eirini, Cotic, Marius, Gracie, Caitlin, Saadullah Khani, Noushin, Wannasuphoprasit, Yanisa, Wronska, Marta, Dawda, Yogita, Osborn, David PJ, and Bramon, Elvira

Subjects
ANTIDEPRESSANTS, HDL cholesterol, CYTOCHROME P-450 CYP2D6, CYTOCHROME P-450 CYP2C19, ANTILIPEMIC agents, ANTIPSYCHOTIC agents, LIPIDS
Abstract

Background: Dyslipidaemia is an important cardiovascular risk factor for people with severe mental illness, contributing to premature mortality. The link between antipsychotics and dyslipidaemia is well established, while evidence on antidepressants is mixed. Aims: To investigate if antidepressant/antipsychotic use was associated with lipid parameters in UK Biobank participants and if CYP2C19 and CYP2D6 genetic variation plays a role. Methods: Review of self-reported prescription medications identified participants taking antidepressants/antipsychotics. Total, low-, and high-density lipoprotein cholesterol (L/HDL-C) and triglycerides derived from blood samples. CYP2C19 and CYP2D6 metabolic phenotypes were assigned from genetic data. Linear regression investigated aims, adjusted for key covariates. Results: Of 469,739 participants, 36,043 took antidepressants (53% female, median age 58, 17% taking cholesterol-lowering medications) and 3255 took antipsychotics (58% female, median age 57, 27% taking cholesterol-lowering medications). Significant associations were found between use of each amitriptyline, fluoxetine, citalopram/escitalopram, sertraline, paroxetine and venlafaxine with higher total cholesterol, LDL-C, and triglycerides and lower HDL-C, compared to participants not taking each medication. Venlafaxine was associated with the worst lipid profile (total cholesterol, adjusted mean difference: 0.21 mmol/L, 95% confidence interval (CI): 0.17 to 0.26, p < 0.001). Antipsychotic use was significantly associated with lower HDL-C and higher triglycerides. In participants taking sertraline, CYP2C19 intermediate metabolisers had higher HDL-C (0.05 mmol/L, 95% CI: 0.01 to 0.09, p = 0.007) and lower triglycerides (−0.17 mmol/L, 95% CI: −0.29 to −0.05, p = 0.007), compared to normal metabolisers. Conclusions: Antidepressants were significantly associated with adverse lipid profiles, potentially warranting baseline and regular monitoring. Further research should investigate the mechanistic pathways underlying the protective effects of the CYP2C19 intermediate metaboliser phenotype on HDL-C and triglycerides in people taking sertraline. [ABSTRACT FROM AUTHOR]

Published
2023
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15. Associations of antidepressants and antipsychotics with lipid parameters: Do CYP2D6/CYP2C19 genes play a role? A UK population-based study.

Author

Richards-Belle, Alvin, primary, Austin-Zimmerman, Isabelle, additional, Wang, Baihan, additional, Zartaloudi, Eirini, additional, Cotic, Marius, additional, Gracie, Caitlin, additional, Saadullah Khani, Noushin, additional, Wannasuphoprasit, Yanisa, additional, Wronska, Marta, additional, Dawda, Yogita, additional, Osborn, David P.J., additional, and Bramon, Elvira, additional

Published
2022
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16. CYP2D6 Genetic Variation and Antipsychotic-Induced Weight Gain: A Systematic Review and Meta-Analysis

Author

Wannasuphoprasit, Yanisa, primary, Andersen, Stig Ejdrup, additional, Arranz, Maria J., additional, Catalan, Rosa, additional, Jurgens, Gesche, additional, Kloosterboer, Sanne Maartje, additional, Rasmussen, Henrik Berg, additional, Bhat, Anjali, additional, Irizar, Haritz, additional, Koller, Dora, additional, Polimanti, Renato, additional, Wang, Baihan, additional, Zartaloudi, Eirini, additional, Austin-Zimmerman, Isabelle, additional, and Bramon, Elvira, additional

Published
2022
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18. The Influence of CYP2D6 and CYP2C19 Genetic Variation on Diabetes Mellitus Risk in People Taking Antidepressants and Antipsychotics

Author

Austin-Zimmerman, Isabelle, primary, Wronska, Marta, additional, Wang, Baihan, additional, Irizar, Haritz, additional, Thygesen, Johan H., additional, Bhat, Anjali, additional, Denaxas, Spiros, additional, Fatemifar, Ghazaleh, additional, Finan, Chris, additional, Harju-Seppänen, Jasmine, additional, Giannakopoulou, Olga, additional, Kuchenbaecker, Karoline, additional, Zartaloudi, Eirini, additional, McQuillin, Andrew, additional, and Bramon, Elvira, additional

Published
2021
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19. W41. VERBAL MEMORY AS A PSYCHOSIS ENDOPHENOTYPE: A GENOME-WIDE ASSOCIATION STUDY IN AN ANCESTRALLY DIVERSE SAMPLE OF ADOLESCENTS

Author

Wang, Baihan, primary, Kuchenbäcker, Karoline, additional, McQuillin, Andrew, additional, Giannakopoulou, Olga, additional, Austin-Zimmerman, Isabelle, additional, Irizar, Haritz, additional, Harju-Seppanen, Jasmine, additional, Zartaloudi, Eirini, additional, Bhat, Anjali, additional, Lam, Chor Lai, additional, Lumer, Estella, additional, and Bramon, Elvira, additional

Published
2021
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20. TH67. THE INFLUENCE OF CYP2D6 AND CYP2C19 GENETIC VARIATION ON DIABETES MELLITUS RISK IN PEOPLE TAKING ANTIDEPRESSANTS AND ANTIPSYCHOTICS

Author

Austin-Zimmerman, Isabelle, primary, Wronska, Marta, additional, Wang, Baihan, additional, Irizar, Haritz, additional, Thygesen, Johan Hilge, additional, Bhat, Anjali, additional, Harju-Seppanen, Jasmine, additional, Giannakopoulou, Olga, additional, Kuchenbaecker, Karoline, additional, Zartaloudi, Eirini, additional, McQuillin, Andrew, additional, and Bramon, Elvira, additional

Published
2021
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22. W66. JOINT EFFECTS OF CYP2C19 OR CYP2D6 GENETIC VARIATION AND PSYCHOTROPIC DRUGS ON THE QT INTERVAL

Author

Zartaloudi, Eirini, primary, Lam, Chor Lai, additional, Bhat, Anjali, additional, Wang, Baihan, additional, Austin-Zimmerman, Isabelle, additional, Irizar, Haritz, additional, Harju-Seppanen, Jasmine, additional, McQuillin, Andrew, additional, Wronska, Marta, additional, Lumer, Estella, additional, Kuchenbaecker, Karoline, additional, and Bramon, Elvira, additional

Published
2021
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23. Genetic copy number variants, cognition and psychosis:a meta-analysis and a family study

Author

Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Liewe, de Zwarte, Sonja M.C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen, Luykx, Jurjen J., Mata, Igancio, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel, Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P.F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J.P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje, van Os, Jim, van Winkel, Ruud, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., Bramon, Elvira, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline, Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Liewe, de Zwarte, Sonja M.C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen, Luykx, Jurjen J., Mata, Igancio, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel, Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P.F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J.P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje, van Os, Jim, van Winkel, Ruud, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., and Bramon, Elvira

Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.

Published
2021

24. Transcriptome-wide association study reveals two genes that influence mismatch negativity

Author

Bhat, Anjali, primary, Irizar, Haritz, additional, Thygesen, Johan Hilge, additional, Kuchenbaecker, Karoline, additional, Pain, Oliver, additional, Adams, Rick A., additional, Zartaloudi, Eirini, additional, Harju-Seppänen, Jasmine, additional, Austin-Zimmerman, Isabelle, additional, Wang, Baihan, additional, Muir, Rebecca, additional, Summerfelt, Ann, additional, Du, Xiaoming Michael, additional, Bruce, Heather, additional, O’Donnell, Patricio, additional, Srivastava, Deepak P., additional, Friston, Karl, additional, Hong, L. Elliot, additional, Hall, Mei-Hua, additional, and Bramon, Elvira, additional

Published
2021
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25. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Author

Medical Research Council (UK), Wellcome Trust, NIHR Biomedical Research Centre (UK), NHS Foundation Trust, University College London, National Institute for Health Research (UK), European Research Council, European Commission, Instituto de Salud Carlos III, Fundació Seny, Fundación Ramón Areces, Fundación Marques de Valdecilla, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline B., Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Lieuwe, Zwarte, Sonja M. C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen V., Kahn, René S., Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen M., Luykx, Jurjen J., Mata, Ignacio F., McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel A., Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P. F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J. P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje E. M., Os, Jim van, Winkel, Ruud van, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., Bramon, Elvira, Medical Research Council (UK), Wellcome Trust, NIHR Biomedical Research Centre (UK), NHS Foundation Trust, University College London, National Institute for Health Research (UK), European Research Council, European Commission, Instituto de Salud Carlos III, Fundació Seny, Fundación Ramón Areces, Fundación Marques de Valdecilla, Thygesen, Johan H., Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Jones, Rebecca, Kuchenbaecker, Karoline B., Lin, Kuang, Alizadeh, Behrooz Z., Austin-Zimmerman, Isabelle, Bartels-Velthuis, Agna, Bhat, Anjali, Bruggeman, Richard, Cahn, Wiepke, Calafato, Stella, Crespo-Facorro, Benedicto, de Haan, Lieuwe, Zwarte, Sonja M. C., Di Forti, Marta, Díez-Revuelta, Álvaro, Hall, Jeremy, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen V., Kahn, René S., Kalaydjieva, Luba, Kravariti, Eugenia, Lawrie, Stephen M., Luykx, Jurjen J., Mata, Ignacio F., McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Muir, Rebecca, Ophoff, Roel A., Picchioni, Marco, Prata, Diana P., Ranlund, Siri, Rujescu, Dan, Rutten, Bart P. F., Schulze, Katja, Shaikh, Madiha, Schirmbeck, Frederike, Simons, Claudia J. P., Toulopoulou, Timothea, van Amelsvoort, Therese, van Haren, Neeltje E. M., Os, Jim van, Winkel, Ruud van, Vassos, Evangelos, Walshe, Muriel, Weisbrod, Matthias, Zartaloudi, Eirini, Bell, Vaughan, Powell, John, Lewis, Cathryn M., Murray, Robin M., and Bramon, Elvira

Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included ten primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200 kb, <1% MAF) as well as known schizophrenia-associated CNVs in patients with psychotic disorders, their unaffected relatives and controls (N = 3428) from the Psychosis Endophenotypes International Consortium (PEIC). The carriers of specific schizophrenia-associated CNVs showed poorer performance than non-carriers in immediate (P = 0.0036) and delayed (P = 0.0115) verbal recall. We found suggestive evidence that carriers of schizophrenia-associated CNVs had poorer block design performance (P = 0.0307). We do not find any association between CNV burden and cognition. Our findings show that the known high-risk CNVs are not only associated with schizophrenia and other neurodevelopmental disorders, but are also a contributing factor to impairment in cognitive domains such as memory and perceptual reasoning, and act as intermediate biomarkers of disease risk.

Published
2020

26. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study

Author

Thygesen, Johan H., primary, Presman, Amelia, additional, Harju-Seppänen, Jasmine, additional, Irizar, Haritz, additional, Jones, Rebecca, additional, Kuchenbaecker, Karoline, additional, Lin, Kuang, additional, Alizadeh, Behrooz Z., additional, Austin-Zimmerman, Isabelle, additional, Bartels-Velthuis, Agna, additional, Bhat, Anjali, additional, Bruggeman, Richard, additional, Cahn, Wiepke, additional, Calafato, Stella, additional, Crespo-Facorro, Benedicto, additional, de Haan, Liewe, additional, de Zwarte, Sonja M. C., additional, Di Forti, Marta, additional, Díez-Revuelta, Álvaro, additional, Hall, Jeremy, additional, Hall, Mei-Hua, additional, Iyegbe, Conrad, additional, Jablensky, Assen, additional, Kahn, Rene, additional, Kalaydjieva, Luba, additional, Kravariti, Eugenia, additional, Lawrie, Stephen, additional, Luykx, Jurjen J., additional, Mata, Igancio, additional, McDonald, Colm, additional, McIntosh, Andrew M., additional, McQuillin, Andrew, additional, Muir, Rebecca, additional, Ophoff, Roel, additional, Picchioni, Marco, additional, Prata, Diana P., additional, Ranlund, Siri, additional, Rujescu, Dan, additional, Rutten, Bart P. F., additional, Schulze, Katja, additional, Shaikh, Madiha, additional, Schirmbeck, Frederike, additional, Simons, Claudia J. P., additional, Toulopoulou, Timothea, additional, van Amelsvoort, Therese, additional, van Haren, Neeltje, additional, van Os, Jim, additional, van Winkel, Ruud, additional, Vassos, Evangelos, additional, Walshe, Muriel, additional, Weisbrod, Matthias, additional, Zartaloudi, Eirini, additional, Bell, Vaughan, additional, Powell, John, additional, Lewis, Cathryn M., additional, Murray, Robin M., additional, and Bramon, Elvira, additional

Published
2020
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27. Transcriptome-Wide Association Study Reveals Two Genes that Influence Mismatch Negativity

Author

Bhat, Anjali, primary, Irizar, Haritz, additional, Thygesen, Johan Hilge, additional, Kuchenbaecker, Karoline, additional, Pain, Oliver, additional, Adams, Rick A., additional, Zartaloudi, Eirini, additional, Harju-Seppänen, Jasmine, additional, Austin-Zimmerman, Isabelle, additional, Wang, Baihan, additional, Muir, Rebecca, additional, Summerfelt, Ann, additional, Du, Xiaoming Michael, additional, Bruce, Heather, additional, O'Donnell, Patricio, additional, Srivastava, Deepak P., additional, Friston, Karl, additional, Hong, L. Elliot, additional, Hall, Mei-Hua, additional, and Bramon, Elvira, additional

Published
2020
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31. S81INFLUENCES OF POLYGENIC RISK SCORES AND SCHIZOPHRENIA ASSOCIATED CNVS ON BROADLY AND NARROWLY DEFINED PSYCHOSES: PROSPECTIVE STUDY AND META-ANALYSIS

Author

Zartaloudi, Eirini, primary, Thygesen, Johan, additional, Irizar, Aritz, additional, Kuchenbaecker, Karoline, additional, Calafato, Stella, additional, Harju-Seppanen, Jasmine, additional, Austin-Zimmerman, Isabelle, additional, Bhat, Anjali, additional, McQuillin, Andrew, additional, and Bramon, Elvira, additional

Published
2019
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32. M42 A TRANSCRIPTOME-WIDE ASSOCIATION STUDY OF MISMATCH NEGATIVITY

Author

Bhat, Anjali, primary, Irizar, Aritz, additional, Pain, Oliver, additional, Thygesen, Johan, additional, Harju-Seppanen, Jasmine, additional, Austin-Zimmerman, Isabelle, additional, Wang, Baihan, additional, Zartaloudi, Eirini, additional, Calafato, Stella, additional, Friston, Karl, additional, Adams, Rick, additional, Kuchenbaecker, Karoline, additional, Hall, Mei-Hua, additional, Bramon, Elvira, additional, and Hong, Elliot, additional

Published
2019
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35. F58EFFECTS OF COPY NUMBER VARIANTS ON COGNITION: A META-ANALYSIS AND FAMILY STUDY

Author

Thygesen, Johan, primary, Presman, Amelia, additional, Calafato, Stella, additional, Harju-Seppänen, Jasmine, additional, Zartaloudi, Eirini, additional, Irizar, Haritz, additional, Cahn, Wiepke, additional, Jablensky, Assen, additional, Kravariti, Eugenia, additional, McIntosh, Andrew, additional, Rujescu, Dan, additional, Toulopoulou, Timothea, additional, Murray, Robin, additional, and Bramon, Elvira, additional

Published
2019
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39. Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders

Author

Calafato, Maria Stella, Thygesen, Johan H., Ranlund, Siri, Zartaloudi, Eirini, Cahn, Wiepke, Crespo-Facorro, Benedicto, Diez-Revuelta, Alvaro, Di Forti, Marta, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lin, Kuang, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Picchioni, Marco, Rujescu, Dan, Shaikh, Madiha, Toulopoulou, Timothea, Van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Powell, John, Lewis, Cathryn M., Murray, Robin M., Bramon, Elvira, Calafato, Maria Stella, Thygesen, Johan H., Ranlund, Siri, Zartaloudi, Eirini, Cahn, Wiepke, Crespo-Facorro, Benedicto, Diez-Revuelta, Alvaro, Di Forti, Marta, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lin, Kuang, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Picchioni, Marco, Rujescu, Dan, Shaikh, Madiha, Toulopoulou, Timothea, Van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Powell, John, Lewis, Cathryn M., Murray, Robin M., and Bramon, Elvira

Published
2018

40. Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders

Author

Onderzoek, Brain, Onderzoeksgroep 11, Calafato, Maria Stella, Thygesen, Johan H., Ranlund, Siri, Zartaloudi, Eirini, Cahn, Wiepke, Crespo-Facorro, Benedicto, Diez-Revuelta, Alvaro, Di Forti, Marta, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lin, Kuang, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Picchioni, Marco, Rujescu, Dan, Shaikh, Madiha, Toulopoulou, Timothea, Van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Powell, John, Lewis, Cathryn M., Murray, Robin M., Bramon, Elvira, Onderzoek, Brain, Onderzoeksgroep 11, Calafato, Maria Stella, Thygesen, Johan H., Ranlund, Siri, Zartaloudi, Eirini, Cahn, Wiepke, Crespo-Facorro, Benedicto, Diez-Revuelta, Alvaro, Di Forti, Marta, Hall, Mei-Hua, Iyegbe, Conrad, Jablensky, Assen, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, Lin, Kuang, McDonald, Colm, McIntosh, Andrew M., McQuillin, Andrew, Picchioni, Marco, Rujescu, Dan, Shaikh, Madiha, Toulopoulou, Timothea, Van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Powell, John, Lewis, Cathryn M., Murray, Robin M., and Bramon, Elvira

Published
2018

41. Genetic Copy Number Variants, Cognition and Psychosis: A Meta-analysis and a Family Study

Author

Thygesen, Johan Hilge, Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Calafato, Stella, Zartaloudi, Eirini, Jones, Rebecca, Ranlund, Siri, Kuchenbaecker, Karoline, Lin, Kuang, Cahn, Wiepke, Crespo-Facorro, Benedicto, de Zwarte, Sonja MC, Austin-Zimmerman, Isabelle, Bhat, Anjali, Díez, Álvaro, Di Forti, Marta, Genetic Risk And Outcome Of Psychosis (GROUP), Iyegbe, Conrad, Jablensky, Assen, Hall, Mei-Hua, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Muir, Rebecca, Psychosis Endophenotypes International Consortium (PEIC), Picchioni, Marco, Prata, Diana P, Rujescu, Dan, Schulze, Katja, Shaikh, Madiha, Toulopoulou, Timothea, van Haren, Neeltje, van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Wellcome Trust Case Control Consortium 2 (WTCCC2), Bell, Vaughan, Powell, John, Lewis, Cathryn, Murray, Robin M, and Bramon, Elvira

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, CNVs, schizophrenia, cognition, endocrine system diseases, mental disorders, 3. Good health
Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate point between genetics and the illness. This paper investigates the influence of CNVs on cognition. We conducted a systematic review and meta-analysis of the literature exploring the effect of CNV burden on general intelligence. We included 10 primary studies with a total of 18,847 participants and found no evidence of association. In a new psychosis family study, we investigated the effects of CNVs on specific cognitive abilities. We examined the burden of large and rare CNVs (>200Kb

42. Genetic Copy Number Variants, Cognition and Psychosis: A Meta-analysis and a Family Study

Author

Thygesen, Johan Hilge, Presman, Amelia, Harju-Seppänen, Jasmine, Irizar, Haritz, Calafato, Stella, Zartaloudi, Eirini, Jones, Rebecca, Ranlund, Siri, Kuchenbaecker, Karoline, Lin, Kuang, Cahn, Wiepke, Crespo-Facorro, Benedicto, de Zwarte, Sonja MC, Austin-Zimmerman, Isabelle, Bhat, Anjali, Díez, Álvaro, Di Forti, Marta, Genetic Risk and Outcome of Psychosis (GROUP), Iyegbe, Conrad, Jablensky, Assen, Hall, Mei-Hua, Kahn, Rene, Kalaydjieva, Luba, Kravariti, Eugenia, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Muir, Rebecca, Psychosis Endophenotypes International Consortium (PEIC), Picchioni, Marco, Prata, Diana P, Rujescu, Dan, Schulze, Katja, Shaikh, Madiha, Toulopoulou, Timothea, van Haren, Neeltje, van Os, Jim, Vassos, Evangelos, Walshe, Muriel, Wellcome Trust Case Control Consortium 2 (WTCCC2), Bell, Vaughan, Powell, John, Lewis, Cathryn, Murray, Robin M, and Bramon, Elvira

Subjects
CNVs, schizophrenia, cognition, mental disorders, 3. Good health
Abstract

The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVsincrease the risk of developing schizophrenia. Several cognitive measures are purportedschizophrenia endophenotypes andmayrepresent an intermediate point between genetics and theillness.This paper investigates the influence of CNVs on cognition. We conducted a systematicreview and meta-analysis of the literature exploring the effect of CNV burden on generalintelligence. We included 10 primary studies with a total of 18,847 participants and found noevidence ofassociation. In a new psychosis family study, we investigated the effects of CNVs onspecific cognitive abilities. We examined the burden of large andrare CNVs (>200Kb

43. Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders.

Author

Calafato MS, Thygesen JH, Ranlund S, Zartaloudi E, Cahn W, Crespo-Facorro B, Díez-Revuelta Á, Di Forti M, Hall MH, Iyegbe C, Jablensky A, Kahn R, Kalaydjieva L, Kravariti E, Lin K, McDonald C, McIntosh AM, McQuillin A, Picchioni M, Rujescu D, Shaikh M, Toulopoulou T, Os JV, Vassos E, Walshe M, Powell J, Lewis CM, Murray RM, and Bramon E

Subjects
Adult, Australia, Case-Control Studies, Europe, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Logistic Models, Male, Middle Aged, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Risk Factors, Young Adult, Bipolar Disorder genetics, Psychotic Disorders genetics, Schizophrenia genetics
Abstract

Background: There is increasing evidence for shared genetic susceptibility between schizophrenia and bipolar disorder. Although genetic variants only convey subtle increases in risk individually, their combination into a polygenic risk score constitutes a strong disease predictor.AimsTo investigate whether schizophrenia and bipolar disorder polygenic risk scores can distinguish people with broadly defined psychosis and their unaffected relatives from controls., Method: Using the latest Psychiatric Genomics Consortium data, we calculated schizophrenia and bipolar disorder polygenic risk scores for 1168 people with psychosis, 552 unaffected relatives and 1472 controls., Results: Patients with broadly defined psychosis had dramatic increases in schizophrenia and bipolar polygenic risk scores, as did their relatives, albeit to a lesser degree. However, the accuracy of predictive models was modest., Conclusions: Although polygenic risk scores are not ready for clinical use, it is hoped that as they are refined they could help towards risk reduction advice and early interventions for psychosis.Declaration of interestR.M.M. has received honoraria for lectures from Janssen, Lundbeck, Lilly, Otsuka and Sunovian.

Published
2018
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