Publications by authors named "Zartaloudi E"

Article Synopsis
  • The study investigates how endophenotypes, which are traits linked to psychosis, connect to genetic factors by examining specific gene sets.
  • It analyzed data from 4,506 participants to compute polygenic risk scores related to schizophrenia and bipolar disorder, ultimately measuring their association with seven different endophenotypes.
  • Results indicated a significant link between reduced P300 amplitude and higher schizophrenia risk linked to forebrain-related genes, suggesting genetic variants influence early brain development and may heighten psychosis risk in the future.
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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 and genetic variation plays a role.

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Introduction: Globally, 80% of the burdenof major depressive disorder (MDD) pertains to low- and middle-income countries. Research into genetic and environmental risk factors has the potential to uncover disease mechanisms that may contribute to better diagnosis and treatment of mental illness, yet has so far been largely limited to participants with European ancestry from high-income countries. The DIVERGE study was established to help overcome this gap and investigate genetic and environmental risk factors for MDD in Pakistan.

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Psychotic disorders affect 3% of the population at some stage in life, are a leading cause of disability, and impose a great economic burden on society. Major breakthroughs in the genetics of psychosis have not yet been matched by an understanding of its neurobiology. Biomarkers of perception and cognition obtained through non-invasive neurophysiological tools, especially EEG, offer a unique opportunity to gain mechanistic insights.

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Article Synopsis
  • Antipsychotic medications can lead to weight gain, which may reduce life expectancy in individuals with psychotic disorders, potentially influenced by genetic variations in the CYP2D6 enzyme responsible for drug metabolism.
  • A systematic review analyzed various studies on the weight and BMI of patients on antipsychotics based on their CYP2D6 metabolic groups, finding that cohort studies indicated higher weight in poor metabolizers, but cross-sectional studies did not support this.
  • The meta-analysis of 17 studies, encompassing data from over 2,000 patients, did not reveal significant differences in weight or BMI among different metabolic groups, suggesting that genetic factors may not strongly influence weight gain in antipsychotic treatment.
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Verbal memory impairment is one of the most prominent cognitive deficits in psychosis. However, few studies have investigated the genetic basis of verbal memory in a neurodevelopmental context, and most genome-wide association studies (GWASs) have been conducted in European-ancestry populations. We conducted a GWAS on verbal memory in a maximum of 11,017 participants aged 8.

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Article Synopsis
  • CYP2D6 and CYP2C19 enzymes play a crucial role in how the body processes antidepressants and antipsychotics, and genetic differences in these enzymes can increase the risk of adverse drug reactions and diabetes.
  • In a study involving 31,579 individuals on antidepressants and 2,699 on antipsychotics, it was found that poor metabolizers of CYP2D6 had significantly higher HbA1c levels (a diabetes measure) compared to normal metabolizers when taking specific medications like paroxetine and venlafaxine.
  • Results suggest the relationship between genetic metabolism status and diabetes varies, highlighting the need for further research to enhance pharmacogenetic testing for those on these medications.
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Mismatch negativity (MMN) is a differential electrophysiological response measuring cortical adaptability to unpredictable stimuli. MMN is consistently attenuated in patients with psychosis. However, the genetics of MMN are uncharted, limiting the validation of MMN as a psychosis endophenotype.

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Article Synopsis
  • * A systematic review involved ten studies with nearly 19,000 participants, concluding that the burden of CNVs does not correlate with general cognitive performance.
  • * However, specific schizophrenia-associated CNVs were linked to poorer verbal recall and perceptual reasoning abilities in individuals with psychotic disorders and their relatives, suggesting they may serve as biomarkers for cognitive impairment and increased disease risk.
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Hyperprolactinemia is a known adverse drug reaction to antipsychotic treatment. Antipsychotic blood levels are influenced by cytochrome P450 enzymes, primarily CYP2D6. Variation in CYP450 genes may affect the risk of antipsychotic-induced hyperprolactinemia.

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Endophenotypes are mediator traits between genetic influences and clinical phenotypes. Meta-analyses have consistently shown modest impairments of executive functioning in obsessive compulsive disorder (OCD) patients compared to healthy controls. Similar deficits have also been reported in unaffected relatives of OCD patients, but have not been quantified.

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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.

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Article Synopsis
  • This study examines the relationships among various endophenotypes (cognitive, electrophysiological, and neuroanatomical traits) in psychosis through a large sample of 8,754 participants, including those with psychotic disorders, their relatives, and healthy controls.
  • Significant associations were found among cognitive endophenotypes, while the P300 amplitude and latency were determined to be independent of each other, with P300 amplitude linked to specific cognitive functions like working memory.
  • The results suggest that cognitive traits and their relationships are consistent across different groups, supporting the idea that psychosis risk exists on a continuum within the general population.
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