Podcast
Questions and Answers
What does a polygenic risk score (PRS) measure?
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?
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?
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?
What is the role of genetic counseling in mental health?
What percentage of variance in risk does the sample PRS indicate for schizophrenia?
What percentage of variance in risk does the sample PRS indicate for schizophrenia?
Which genetic component has been linked with both schizophrenia and bipolar disorder?
Which genetic component has been linked with both schizophrenia and bipolar disorder?
What percentage of psychosis is considered to be heritable?
What percentage of psychosis is considered to be heritable?
What does pharmaco-genetics aim to achieve?
What does pharmaco-genetics aim to achieve?
Which of the following is a significant environmental factor associated with an increased risk of psychosis?
Which of the following is a significant environmental factor associated with an increased risk of psychosis?
Which indicator is associated with poorer verbal and spatial learning in carriers of schizophrenia-associated CNVs?
Which indicator is associated with poorer verbal and spatial learning in carriers of schizophrenia-associated CNVs?
Which genetic variations are known as strong risk factors contributing to schizophrenia?
Which genetic variations are known as strong risk factors contributing to schizophrenia?
What is accurate about rare genetic variants in relation to psychosis?
What is accurate about rare genetic variants in relation to psychosis?
Which study method does not require a hypothesis to identify genetic markers for complex diseases?
Which study method does not require a hypothesis to identify genetic markers for complex diseases?
Which syndrome is associated with a substantial risk of developing schizophrenia?
Which syndrome is associated with a substantial risk of developing schizophrenia?
What is true about the 270 common genetic variants associated with schizophrenia?
What is true about the 270 common genetic variants associated with schizophrenia?
What role does genetic relatedness play in the risk of developing psychosis?
What role does genetic relatedness play in the risk of developing psychosis?
What is the primary reason for the increased risk of psychosis among genetically related individuals?
What is the primary reason for the increased risk of psychosis among genetically related individuals?
Which of the following best describes the nature of psychotic disorders in relation to Mendelian genetics?
Which of the following best describes the nature of psychotic disorders in relation to Mendelian genetics?
Which type of genetic variants has been identified as the strongest risk factor contributing to schizophrenia?
Which type of genetic variants has been identified as the strongest risk factor contributing to schizophrenia?
Which combination of factors is necessary to understand the risk of developing psychotic disorders?
Which combination of factors is necessary to understand the risk of developing psychotic disorders?
What is a characteristic of CNVs in relation to psychosis development?
What is a characteristic of CNVs in relation to psychosis development?
What method allows for the examination of the entire DNA sequence to identify genetic markers?
What method allows for the examination of the entire DNA sequence to identify genetic markers?
Which of the following factors is associated with increased risk of psychosis during childhood?
Which of the following factors is associated with increased risk of psychosis during childhood?
Which common variant characteristic is true regarding its effect on schizophrenia risk?
Which common variant characteristic is true regarding its effect on schizophrenia risk?
What is the purpose of polygenic risk scores (PRS)?
What is the purpose of polygenic risk scores (PRS)?
What is a key characteristic of a good biomarker in relation to psychosis?
What is a key characteristic of a good biomarker in relation to psychosis?
Why is understanding endophenotypes important for mental health treatment?
Why is understanding endophenotypes important for mental health treatment?
What is the role of genetic counseling in families dealing with genetic disorders?
What is the role of genetic counseling in families dealing with genetic disorders?
How does genetics influence the pharmacological treatment of mental health disorders?
How does genetics influence the pharmacological treatment of mental health disorders?
What percentage of variance in risk does the PRS indicate for bipolar disorder?
What percentage of variance in risk does the PRS indicate for bipolar disorder?
Which of the following is a method used for identifying biomarkers of psychosis?
Which of the following is a method used for identifying biomarkers of psychosis?
What mechanism helps to protect some carriers of high-risk CNVs from developing mental illness?
What mechanism helps to protect some carriers of high-risk CNVs from developing mental illness?
What contributes to the increased risk of psychosis due to genetic factors?
What contributes to the increased risk of psychosis due to genetic factors?
Which type of genetic variant is associated with the highest risk for schizophrenia?
Which type of genetic variant is associated with the highest risk for schizophrenia?
Which factor is not typically listed as an environmental risk factor for psychosis?
Which factor is not typically listed as an environmental risk factor for psychosis?
What percentage of risk is attributed to genetic factors in the context of psychosis?
What percentage of risk is attributed to genetic factors in the context of psychosis?
Which gene mapping method can identify a wide range of genetic markers without a prior hypothesis?
Which gene mapping method can identify a wide range of genetic markers without a prior hypothesis?
What is the relationship between common genetic variants and the risk of psychosis?
What is the relationship between common genetic variants and the risk of psychosis?
Which of the following statements about CNVs is false?
Which of the following statements about CNVs is false?
What role do childhood adversity and urban upbringing play in the context of psychosis?
What role do childhood adversity and urban upbringing play in the context of psychosis?
What is one possible use of endophenotypes in mental health research?
What is one possible use of endophenotypes in mental health research?
How does a polygenic risk score (PRS) typically function?
How does a polygenic risk score (PRS) typically function?
What is the role of biomarkers in psychosis research?
What is the role of biomarkers in psychosis research?
What is a key concern of genetic counseling in the context of mental health?
What is a key concern of genetic counseling in the context of mental health?
What factor is crucial when developing new drugs targeting SNPs related to schizophrenia?
What factor is crucial when developing new drugs targeting SNPs related to schizophrenia?
What aspect makes a good biomarker in the context of psychosis?
What aspect makes a good biomarker in the context of psychosis?
What percentage of variance in schizophrenia risk is accounted for by the sample PRS?
What percentage of variance in schizophrenia risk is accounted for by the sample PRS?
Why is it important to understand genetic influences on drug response in mental health?
Why is it important to understand genetic influences on drug response in mental health?
Flashcards
Heritability of Psychosis
Heritability of Psychosis
Psychosis is highly influenced by genetics, estimated at about 80%.
Genetic Risk Factors
Genetic Risk Factors
Specific genetic variations like copy number variants (CNVs) and common single nucleotide polymorphisms (SNPs) can increase the risk of developing psychosis.
Complex Genetic Diseases
Complex Genetic Diseases
Disorders like psychosis and schizophrenia are influenced by multiple genes, and interactions with the environment. They don't follow a single gene inheritance pattern.
Copy Number Variants (CNVs)
Copy Number Variants (CNVs)
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GWAS (Genome-Wide Association Studies)
GWAS (Genome-Wide Association Studies)
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Environmental Risk Factors
Environmental Risk Factors
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VCFS (Velocardiofacial Syndrome)
VCFS (Velocardiofacial Syndrome)
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Predicting Psychosis
Predicting Psychosis
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Polygenic Risk Score (PRS)
Polygenic Risk Score (PRS)
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Endophenotype
Endophenotype
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Biomarker
Biomarker
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Genetic Counseling
Genetic Counseling
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Pharmacogenetics
Pharmacogenetics
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SNP
SNP
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Risk of Schizophrenia
Risk of Schizophrenia
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Clinical Implications of Genetics
Clinical Implications of Genetics
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Genetic Risk for Psychosis
Genetic Risk for Psychosis
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Complex Genetic Disorder
Complex Genetic Disorder
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Genome-Wide Association Studies (GWAS)
Genome-Wide Association Studies (GWAS)
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Why is PRS not perfectly predictive?
Why is PRS not perfectly predictive?
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What are some examples of endophenotypes?
What are some examples of endophenotypes?
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What is pharmacogenetics used for?
What is pharmacogenetics used for?
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Genetic Implications for Mental Health
Genetic Implications for Mental Health
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What are some examples of endophenotypes for psychosis?
What are some examples of endophenotypes for psychosis?
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How does PRS contribute to understanding psychosis?
How does PRS contribute to understanding psychosis?
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What are the clinical implications of genetics in mental health?
What are the clinical implications of genetics in mental health?
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Why is genetics important for mental health?
Why is genetics important for mental health?
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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.
