Psychosis Heritability and Risk Factors
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Questions and Answers

What does a polygenic risk score (PRS) measure?

  • The likelihood of developing a specific type of cancer
  • The environmental factors influencing mental health
  • A person's genetic predisposition to developing certain conditions (correct)
  • The effectiveness of a medication based on genetic makeup

    • Which of the following is considered a good biomarker?

  • Invasive and expensive to measure
  • Only affects individuals in specific age groups
  • Commonly available but unreliable
  • Strongly associated with the disease and heritable (correct)

    • How do endophenotypes contribute to understanding diseases like schizophrenia?

  • They improve disease classification and treatment personalization (correct)
  • They replace the need for genetic testing
  • They solely focus on environmental factors
  • They predict the exact outcome for all patients

    • What is the role of genetic counseling in mental health?

    <p>To inform about the management of genetic disorders</p> Signup and view all the answers

    What percentage of variance in risk does the sample PRS indicate for schizophrenia?

    <p>9%</p> Signup and view all the answers

    Which genetic component has been linked with both schizophrenia and bipolar disorder?

    <p>Single nucleotide polymorphisms (SNPs)</p> Signup and view all the answers

    What percentage of psychosis is considered to be heritable?

    <p>80%</p> Signup and view all the answers

    What does pharmaco-genetics aim to achieve?

    <p>To personalize treatment based on genetic tests</p> Signup and view all the answers

    Which of the following is a significant environmental factor associated with an increased risk of psychosis?

    <p>Cannabis use</p> Signup and view all the answers

    Which indicator is associated with poorer verbal and spatial learning in carriers of schizophrenia-associated CNVs?

    <p>P300 wave changes on EEG</p> Signup and view all the answers

    Which genetic variations are known as strong risk factors contributing to schizophrenia?

    <p>Copy Number Variants</p> Signup and view all the answers

    What is accurate about rare genetic variants in relation to psychosis?

    <p>They can be carried without developing psychosis.</p> Signup and view all the answers

    Which study method does not require a hypothesis to identify genetic markers for complex diseases?

    <p>Genome-Wide Association Studies (GWAS)</p> Signup and view all the answers

    Which syndrome is associated with a substantial risk of developing schizophrenia?

    <p>Velio-cardio-facial syndrome (VCFS)</p> Signup and view all the answers

    What is true about the 270 common genetic variants associated with schizophrenia?

    <p>They convey a subtle increase in risk.</p> Signup and view all the answers

    What role does genetic relatedness play in the risk of developing psychosis?

    <p>Risk increases with genetic relatedness.</p> Signup and view all the answers

    What is the primary reason for the increased risk of psychosis among genetically related individuals?

    <p>Genetic factors</p> Signup and view all the answers

    Which of the following best describes the nature of psychotic disorders in relation to Mendelian genetics?

    <p>They are complex genetic diseases</p> Signup and view all the answers

    Which type of genetic variants has been identified as the strongest risk factor contributing to schizophrenia?

    <p>Copy number variants</p> Signup and view all the answers

    Which combination of factors is necessary to understand the risk of developing psychotic disorders?

    <p>Both genetic and environmental factors</p> Signup and view all the answers

    What is a characteristic of CNVs in relation to psychosis development?

    <p>They are part of normal genetic variation</p> Signup and view all the answers

    What method allows for the examination of the entire DNA sequence to identify genetic markers?

    <p>Genetic sequencing</p> Signup and view all the answers

    Which of the following factors is associated with increased risk of psychosis during childhood?

    <p>Migration patterns</p> Signup and view all the answers

    Which common variant characteristic is true regarding its effect on schizophrenia risk?

    <p>Common variants individually convey a subtle increase in risk</p> Signup and view all the answers

    What is the purpose of polygenic risk scores (PRS)?

    <p>To measure an individual's likelihood of developing a specific disorder.</p> Signup and view all the answers

    What is a key characteristic of a good biomarker in relation to psychosis?

    <p>It must be heritable and associated strongly with the disease.</p> Signup and view all the answers

    Why is understanding endophenotypes important for mental health treatment?

    <p>They help in understanding disease mechanisms and personalizing treatment.</p> Signup and view all the answers

    What is the role of genetic counseling in families dealing with genetic disorders?

    <p>To inform families about the inheritance pattern and treatment options.</p> Signup and view all the answers

    How does genetics influence the pharmacological treatment of mental health disorders?

    <p>It personalizes treatment based on genetic makeup affecting drug response.</p> Signup and view all the answers

    What percentage of variance in risk does the PRS indicate for bipolar disorder?

    <p>2%</p> Signup and view all the answers

    Which of the following is a method used for identifying biomarkers of psychosis?

    <p>MRI imaging showing changes in ventricular volumes.</p> Signup and view all the answers

    What mechanism helps to protect some carriers of high-risk CNVs from developing mental illness?

    <p>Existence of endophenotypes providing resilience.</p> Signup and view all the answers

    What contributes to the increased risk of psychosis due to genetic factors?

    <p>Genetic relatedness to an affected person</p> Signup and view all the answers

    Which type of genetic variant is associated with the highest risk for schizophrenia?

    <p>Copy Number Variants</p> Signup and view all the answers

    Which factor is not typically listed as an environmental risk factor for psychosis?

    <p>Pharmaceutical use</p> Signup and view all the answers

    What percentage of risk is attributed to genetic factors in the context of psychosis?

    <p>80%</p> Signup and view all the answers

    Which gene mapping method can identify a wide range of genetic markers without a prior hypothesis?

    <p>Genome-Wide Association Studies (GWAS)</p> Signup and view all the answers

    What is the relationship between common genetic variants and the risk of psychosis?

    <p>They convey a subtle increase in risk</p> Signup and view all the answers

    Which of the following statements about CNVs is false?

    <p>Pathogenic CNVs are extremely common</p> Signup and view all the answers

    What role do childhood adversity and urban upbringing play in the context of psychosis?

    <p>They are linked to increased risk of psychosis</p> Signup and view all the answers

    What is one possible use of endophenotypes in mental health research?

    <p>To improve treatment personalization</p> Signup and view all the answers

    How does a polygenic risk score (PRS) typically function?

    <p>By combining multiple SNPs to estimate risk</p> Signup and view all the answers

    What is the role of biomarkers in psychosis research?

    <p>To measure brain function and structure</p> Signup and view all the answers

    What is a key concern of genetic counseling in the context of mental health?

    <p>Helping families understand genetic disorder risks</p> Signup and view all the answers

    What factor is crucial when developing new drugs targeting SNPs related to schizophrenia?

    <p>SNPs with small effects</p> Signup and view all the answers

    What aspect makes a good biomarker in the context of psychosis?

    <p>Being heritable and non-invasive</p> Signup and view all the answers

    What percentage of variance in schizophrenia risk is accounted for by the sample PRS?

    <p>9%</p> Signup and view all the answers

    Why is it important to understand genetic influences on drug response in mental health?

    <p>To enhance the effectiveness of treatments</p> Signup and view all the answers

    Study Notes

    Heritability of Psychosis

    • Psychosis has a high heritability rate (80%).
    • Risk of psychosis increases with genetic relatedness to an affected individual.
    • Increased risk is due to genetic factors, not just shared environment.

    Risk Factors for Psychosis

    • Genetic: Copy Number Variants (CNVs), common single nucleotide polymorphisms (SNPs).
    • Environmental: Migration, cannabis use, childhood adversity/abuse, urban birth/upbringing, obstetric complications.

    Genetic Inheritance of Psychosis

    • Psychosis is a complex genetic disorder, not following Mendelian inheritance patterns.
    • Caused by multiple genetic and environmental factors, and their interactions.
    • Similar to other complex traits like height, weight, blood pressure, IQ.

    Identifying Genetic Variants

    • Genome-Wide Association Studies (GWAS): Examine millions of genetic markers (SNPs).
    • Sequencing: Examines entire DNA sequence, doesn't require hypotheses.

    Common Genetic Variations

    • Common variants: Small individual effects, hard to identify.
    • Rare variants (CNVs): Genomic deletions/duplications, substantial risk factors for schizophrenia (e.g., VCFS).
    • CNVs: Are part of normal variation, not always penetrant (not all carriers develop psychosis), and not necessary or sufficient for the disorder.

    Genetic Variants and Risk

    • VCFS (velo-cardio-facial syndrome): Deletion increases the risk of schizophrenia and, possibly bipolar disorder, accompanied by intellectual disability and autism.
    • 270 common SNPs: Individually increase schizophrenia risk.
    • 10 rare SNVs (single nucleotide variants): Show significant association with schizophrenia.
    • 22q11.2 (CNV): Deletion increases bipolar disorder risk.

    Predicting Psychosis

    • Accurate psychosis prediction isn't possible.
    • Polygenic Risk Scores (PRS) can estimate the genetic predisposition to psychosis.
    • PRS combines all SNPs to evaluate schizophrenia (9% variance) or bipolar risk (2% variance).
    • PRS is a predictor of risk.

    Endophenotypes

    • Endophenotypes are quantitative measures of brain function/structure, like biomarkers.
    • They are heritable, strongly associated with the illness, safe, and noninvasive.
    • Examples include enlarged ventricles on MRI, EEG changes (P300 wave), and cognitive functions (verbal/spatial learning).
    • Endophenotypes help understand mechanisms, improve classification, and personalize treatment strategies.

    Clinical Implications

    • SNPs increase the risk of schizophrenia OR bipolar, some increase risk of both.
    • Small-effect SNPs can influence drug development.

    Genetic Counseling

    • Provides information about genetic conditions, inheritance patterns, risks, treatments, and adjustment strategies.

    Pharmacogenomics

    • Genetic tests to personalize treatment for more than 20 antipsychotics to tailor treatment response and side effects.

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    Description

    Explore the genetic and environmental factors contributing to psychosis. This quiz covers heritability rates, genetic variants, and risk factors associated with the disorder. Test your understanding of the complex interplay between genetics and environment in psychiatric conditions.

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