Genetics of Schizophrenia and Bipolar Disorder
154 Questions
18 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What percentage of the variance in Schizophrenia risk is explained by the Polygenic Risk Score?

  • 9% (correct)
  • 85%
  • 50%
  • 2%

    • Which of the following best describes the ability of Polygenic Risk Scores for distinguishing patients from controls?

  • PRS is equally effective for both conditions.
  • PRS is not effective in distinguishing between groups.
  • PRS can be fully used in clinical settings.
  • PRS for Schizophrenia is more effective than for Bipolar Disorder. (correct)

    • What is the significance level of the group differences in PRS scores for Bipolar Disorder?

  • p=0.05
  • p=6.3x10^-40
  • p=7.3x10^-11 (correct)
  • p=0.001

    • Why are Polygenic Risk Scores not currently used for clinical screening?

    <p>Their accuracy is not sufficient yet.</p> Signup and view all the answers

    What is the effect of dataset quality on the Polygenic Risk Score?

    <p>The better the dataset, the better the PRS will be.</p> Signup and view all the answers

    What is a primary advantage of utilizing GWAS and sequencing in genetic research?

    <p>It can identify genetic variants linked to complex diseases.</p> Signup and view all the answers

    In the genome wide association study on schizophrenia, how many loci have shown significant associations?

    <p>270</p> Signup and view all the answers

    What type of analysis was conducted for gene prioritization in the bipolar disorder GWAS?

    <p>Integrative eQTL analyses</p> Signup and view all the answers

    Which of the following genes is implicated in both schizophrenia and bipolar disorder?

    <p>CACNA1C</p> Signup and view all the answers

    What does the red line on the Manhattan plot represent in the GWAS for bipolar disorder?

    <p>Genome-wide significance threshold</p> Signup and view all the answers

    How many samples were included in the schizophrenia study conducted across 40+ countries?

    <p>400,000+ samples</p> Signup and view all the answers

    Which gene product is a key target of antipsychotic medications and is associated with schizophrenia?

    <p>DRD2</p> Signup and view all the answers

    What does the y-axis of the Manhattan plot in the bipolar disorder GWAS represent?

    <p>Statistical significance of genetic variants</p> Signup and view all the answers

    What is the estimated heritability of psychosis based on family, twin, and adoption studies?

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

    Which statement best describes the relationship between genetic and environmental factors in psychosis?

    <p>Both genetic and environmental factors contribute to the risk.</p> Signup and view all the answers

    How do the inheritance patterns of psychotic disorders differ from Mendelian diseases?

    <p>Psychotic disorders are complex genetic diseases with many risk factors.</p> Signup and view all the answers

    What is the primary purpose of Genome Wide Association Studies (GWAS)?

    <p>To identify common and rare genetic variants associated with diseases.</p> Signup and view all the answers

    Which of the following is NOT mentioned as a complex genetic disease?

    <p>Cystic Fibrosis</p> Signup and view all the answers

    What is one reason why understanding the genetics of psychosis is challenging?

    <p>Psychosis has both common variants with small effects and rare variants with large effects.</p> Signup and view all the answers

    What does exome sequencing specifically target in DNA?

    <p>Segments of DNA coding for proteins (exons).</p> Signup and view all the answers

    What type of genetic variant is particularly associated with large effects in diseases such as psychosis?

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

    What is the primary aim of genetic counselling?

    <p>To promote early intervention and detection of genetic disorders</p> Signup and view all the answers

    How does genetics influence the effectiveness of antipsychotic treatment?

    <p>It influences drug response and potential side effects</p> Signup and view all the answers

    What distinguishes genetic counselling from genetic testing?

    <p>Genetic counselling does not result in genetic diagnoses</p> Signup and view all the answers

    What is a key feature of the pharmacogenetic approach in medication treatment?

    <p>It creates a predictable relationship between genetics and drug response</p> Signup and view all the answers

    What is a known limitation of psychiatric genetic testing in the UK?

    <p>Genetic testing for psychosis is not part of routine clinical practice</p> Signup and view all the answers

    What is the significance of Copy Number Variants (CNVs) in relation to schizophrenia?

    <p>They substantially increase the risk of developing schizophrenia.</p> Signup and view all the answers

    What does the Polygenic Risk Score (PRS) measure?

    <p>Genetic predisposition to certain psychiatric disorders.</p> Signup and view all the answers

    Which statement accurately describes the findings from the SCHEMA consortium study?

    <p>It revealed several ultra-rare protein-coding variants associated with schizophrenia.</p> Signup and view all the answers

    What is one of the challenges faced in the genetic study of bipolar disorder compared to schizophrenia?

    <p>Less genetic variation has been identified for bipolar disorder.</p> Signup and view all the answers

    What recent finding is associated with Single Nucleotide Variants (SNVs) in the study of schizophrenia?

    <p>SNVs in 10 genes have significant links to schizophrenia.</p> Signup and view all the answers

    What role do rare genetic variants play according to recent studies on schizophrenia?

    <p>They can lead to a substantial increase in the risk of developing schizophrenia.</p> Signup and view all the answers

    What is one of the outcomes of the large-scale GWAS conducted by international consortia?

    <p>Locating genetic variants that slightly increase the risk for schizophrenia and bipolar disorder.</p> Signup and view all the answers

    What does the research suggest about the predictability of psychosis development?

    <p>Estimates can be made using Polygenic Risk Scores, but precise predictions are not possible.</p> Signup and view all the answers

    Which of the following must be true for a trait to serve as a marker of genetic risk?

    <p>The trait must be heritable.</p> Signup and view all the answers

    What characterizes intermediate/alternative phenotypes?

    <p>They are associated with the disease and heritable.</p> Signup and view all the answers

    What do polygenic risk scores (PRS) for schizophrenia indicate?

    <p>Problems with cognitive development may arise.</p> Signup and view all the answers

    What is one of the clinical implications of genetic findings in psychosis?

    <p>Certain SNPs confer risk specifically for schizophrenia.</p> Signup and view all the answers

    How do CNV carriers compare in terms of cognition?

    <p>CNV carriers show poorer spatial awareness and verbal learning.</p> Signup and view all the answers

    What does the term 'dimensional view of psychosis' in genetic data imply?

    <p>Psychosis can be viewed through varying degrees of symptom severity.</p> Signup and view all the answers

    What role do SNPs with small effects play in psychosis-related research?

    <p>They can be important targets for drug development in other diseases.</p> Signup and view all the answers

    Why is there a discrepancy between genetic findings and clinical classification systems like ICD-10 or DSM-V?

    <p>Current systems rely on phenomenology rather than genetics.</p> Signup and view all the answers

    What does a high Polygenic Risk Score (PRS) for Schizophrenia indicate?

    <p>Increased genetic predisposition to the disorder</p> Signup and view all the answers

    Which of the following best describes the variance explained by the Schizophrenia PRS?

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

    Which statement highlights a limitation of Polygenic Risk Scores in clinical applications?

    <p>They require more individual-specific data to improve accuracy.</p> Signup and view all the answers

    What is the primary aim of genetic counselling in the context of genetic disorders?

    <p>To facilitate communication about genetic risks and options for intervention</p> Signup and view all the answers

    How does genetic variation influence pharmacogenetics in antipsychotic treatment?

    <p>It affects the drug selection and the dosage required for effective treatment</p> Signup and view all the answers

    What is the impact of dataset quality on the accuracy of Polygenic Risk Scores?

    <p>Better datasets improve the PRS's predictive capability.</p> Signup and view all the answers

    Which of the following statements is true about the significance of Polygenic Risk Scores for Bipolar Disorder?

    <p>They demonstrate highly significant group differences in scores.</p> Signup and view all the answers

    Which statement best describes the distinction between genetic counselling and genetic testing?

    <p>Genetic counselling addresses human issues related to genetic risks without conducting tests</p> Signup and view all the answers

    What role does understanding biological mechanisms play in the development of new medications?

    <p>It helps identify underlying issues that may lead to better drug targeting</p> Signup and view all the answers

    Which of the following is a challenge faced in routine genetic testing for psychosis in the UK?

    <p>Currently, routine testing for psychosis is not implemented</p> Signup and view all the answers

    What is a significant benefit of using GWAS in genetic research?

    <p>It can identify loci for various complex diseases without any initial assumptions.</p> Signup and view all the answers

    Which gene is primarily implicated as a target for antipsychotic medications in schizophrenia?

    <p>DRD2</p> Signup and view all the answers

    How many samples were used in the bipolar disorder GWAS?

    <p>41,900 individuals with bipolar disorder and about 371,500 controls.</p> Signup and view all the answers

    In a GWAS, what does the y-axis represent in the Manhattan plot?

    <p>Statistical significance indicated by the -log10[P value].</p> Signup and view all the answers

    How many loci showed significant associations with schizophrenia according to recent research?

    <p>270 loci.</p> Signup and view all the answers

    What does eQTL analysis help prioritize in GWAS findings?

    <p>Genes linked to genetic variants associated with diseases.</p> Signup and view all the answers

    What does the Major Histocompatibility Complex (MHC) gene associate with?

    <p>Both schizophrenia and bipolar disorder, indicating immune involvement.</p> Signup and view all the answers

    Which one of the following genes is newly associated with bipolar disorder according to the GWAS findings?

    <p>KCNB1</p> Signup and view all the answers

    What percentage of heritability estimates is associated with psychosis?

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

    Which of the following statements is true regarding the genetic risk of psychosis?

    <p>Despite genetic similarities, environmental factors also contribute to risk.</p> Signup and view all the answers

    What distinguishes psychotic disorders from Mendelian diseases?

    <p>Psychotic disorders do not follow Mendelian laws of inheritance.</p> Signup and view all the answers

    What is a characteristic of common genetic variants in psychosis?

    <p>They are prevalent in the population with small effects.</p> Signup and view all the answers

    Which technology is primarily used in GWAS to identify genetic markers?

    <p>Microarray Analysis</p> Signup and view all the answers

    What is the focus of whole exome sequencing in genetic research?

    <p>It analyzes only segments of DNA responsible for coding proteins.</p> Signup and view all the answers

    Which of the following is true about the role of genetic and environmental factors in psychosis?

    <p>Environmental factors can mitigate genetic risks.</p> Signup and view all the answers

    What challenges are presented by the genetics of psychosis?

    <p>There is a combination of many genetic and environmental influences.</p> Signup and view all the answers

    What type of genetic variant is particularly associated with an increased risk of developing schizophrenia?

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

    Which of the following best describes Polygenic Risk Scores (PRS)?

    <p>A cumulative measure of genetic predisposition</p> Signup and view all the answers

    How many common genetic loci have been identified that confer subtle increases in risk for schizophrenia or bipolar disorder?

    <p>270</p> Signup and view all the answers

    Which study focused on identifying single nucleotide variants associated with schizophrenia?

    <p>Schizophrenia Exome Sequencing Meta-Analysis (SCHEMA)</p> Signup and view all the answers

    What has recent research suggested about predicting the development of psychosis?

    <p>Risk can be estimated using Polygenic Risk Scores.</p> Signup and view all the answers

    What is a necessary characteristic for a trait to serve as a marker of genetic risk?

    <p>It must also be heritable.</p> Signup and view all the answers

    What defines intermediate/alternative phenotypes in the context of genetic findings?

    <p>They are heritable and inexpensive measures of brain function.</p> Signup and view all the answers

    What is a limitation noted in the research regarding bipolar disorder compared to schizophrenia?

    <p>Sample sizes for bipolar disorder studies are smaller.</p> Signup and view all the answers

    What is one of the potential benefits of understanding endophenotypes in psychosis?

    <p>They facilitate understanding of disease mechanisms.</p> Signup and view all the answers

    What role do rare genetic variants play in the risk of developing schizophrenia?

    <p>They are associated with substantial increases in risk.</p> Signup and view all the answers

    What genetic mechanism is specifically associated with larger structural variations in the genome for schizophrenia?

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

    Which statement accurately reflects the relationship between genetic findings and clinical classification systems?

    <p>There is a significant discrepancy between genetic findings and how diseases are classified clinically.</p> Signup and view all the answers

    How do CNV carriers compare to non-carrier patients in terms of spatial awareness?

    <p>They exhibit poorer spatial awareness than non-carrier patients.</p> Signup and view all the answers

    What is the significance of SNPs with small effects in psychiatric genetic research?

    <p>They might be important targets for drug development in various diseases.</p> Signup and view all the answers

    What is one finding about Polygenic Risk Scores for schizophrenia as indicated in the context?

    <p>They indicate potential future cognitive problems.</p> Signup and view all the answers

    What does the term 'dimensional view of psychosis' suggest about genetic data?

    <p>It supports the notion of a spectrum of psychotic disorders based on genetic influences.</p> Signup and view all the answers

    What are the heritability estimates for psychosis?

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

    Studies show that the risk of psychosis increases with genetic relatedness to an affected person.

    <p>True</p> Signup and view all the answers

    Identical twins have a 100% chance of both developing psychosis if one twin is affected by it.

    <p>False</p> Signup and view all the answers

    The increased risk of psychosis in families is solely due to sharing the same environment.

    <p>False</p> Signup and view all the answers

    Who discovered the basic laws of genetics?

    <p>Gregor Mendel</p> Signup and view all the answers

    What year did Gregor Mendel publish his paper "Experiments in Plant Hybridisation"?

    <p>1866</p> Signup and view all the answers

    Which of the following diseases are considered "Mendelian" diseases?

    <p>Sickle-cell anemia</p> Signup and view all the answers

    Psychotic disorders follow Mendelian laws.

    <p>False</p> Signup and view all the answers

    Schizophrenia and bipolar disorder are COMPLEX GENETIC DISEASES.

    <p>True</p> Signup and view all the answers

    Schizophrenia and bipolar disorder are ONLY caused by genetic risk factors.

    <p>False</p> Signup and view all the answers

    Complex traits/diseases and interactions of genetic and environmental influences do not follow Mendelian patterns.

    <p>True</p> Signup and view all the answers

    Which of the following is NOT considered a complex trait/disease?

    <p>Huntington's disease</p> Signup and view all the answers

    Which of the following is NOT a reason why the genetics of psychosis is a tough job?

    <p>The inheritance patterns are very predictable</p> Signup and view all the answers

    What are the two main technologies used to study genetics?

    <p>Arrays and Sequencing</p> Signup and view all the answers

    What does GWAS stand for?

    <p>Genome Wide Association Studies</p> Signup and view all the answers

    GWAS is NOT successful in identifying CNVs.

    <p>False</p> Signup and view all the answers

    Whole genome sequencing examines only a specific part of the DNA sequence.

    <p>False</p> Signup and view all the answers

    What does exome sequencing examine?

    <p>All segments of the DNA sequence coding for proteins</p> Signup and view all the answers

    GWAS and sequencing require a priori hypothesis.

    <p>False</p> Signup and view all the answers

    GWAS has been successful in identifying loci/genetic variants associated with complex diseases.

    <p>True</p> Signup and view all the answers

    Genome-wide association study on schizophrenia was conducted only in the United States.

    <p>False</p> Signup and view all the answers

    Manhattan plot depicts correlations between genes and schizophrenia.

    <p>True</p> Signup and view all the answers

    Genome-wide association study on schizophrenia has identified more than 270 loci.

    <p>True</p> Signup and view all the answers

    Genome-wide association study on schizophrenia has identified more than 130 genes that may influence the disease.

    <p>True</p> Signup and view all the answers

    GWAS for bipolar disorder was first conducted in 2021.

    <p>True</p> Signup and view all the answers

    Manhattan plot for bipolar disorder depicts correlations between genes and schizophrenia.

    <p>False</p> Signup and view all the answers

    Genome-wide association study on bipolar disorder included more than 41,900 individuals with bipolar disorder.

    <p>True</p> Signup and view all the answers

    Genome-wide association study on bipolar disorder included more than 371,500 controls.

    <p>True</p> Signup and view all the answers

    In a Manhattan plot for bipolar disorder, the x-axis represents:

    <p>Genomic position</p> Signup and view all the answers

    The genome-wide significance threshold is P < 5 x 10^-8.

    <p>True</p> Signup and view all the answers

    Genome-wide association studies on bipolar disorder have identified around 30 SNPs.

    <p>True</p> Signup and view all the answers

    Novel associations with bipolar disorder are represented in yellow in a Manhattan plot.

    <p>True</p> Signup and view all the answers

    Previous association with bipolar disorder is represented in green in a Manhattan plot.

    <p>True</p> Signup and view all the answers

    Which gene is a key target of antipsychotic medications?

    <p>DRD2</p> Signup and view all the answers

    DRD2 shows significant association with schizophrenia in GWAS.

    <p>True</p> Signup and view all the answers

    Which gene plays an important role in acquired immunity?

    <p>MHC</p> Signup and view all the answers

    Which gene is important in neuronal function?

    <p>CACNA1C</p> Signup and view all the answers

    Which gene is involved in glutamate transmission?

    <p>GRIN2A</p> Signup and view all the answers

    Which gene is associated with bipolar disorder, but not schizophrenia?

    <p>ANK3</p> Signup and view all the answers

    Several thousands of common genetic variants (SNVs) are associated with schizophrenia and/or bipolar disorder.

    <p>True</p> Signup and view all the answers

    Many individuals carry common genetic variations that influence the risk for schizophrenia and bipolar disorder.

    <p>True</p> Signup and view all the answers

    The odds ratio for common genetic variants in schizophrenia and bipolar disorder is typically small.

    <p>True</p> Signup and view all the answers

    Common genetic variants for schizophrenia and bipolar disorder are the sole determinants of the disease.

    <p>False</p> Signup and view all the answers

    There is no genetic overlap between schizophrenia and bipolar disorder.

    <p>False</p> Signup and view all the answers

    All genetic variants affecting the risk for both schizophrenia and bipolar disorder are non-specific.

    <p>False</p> Signup and view all the answers

    Rare genetic variations AKA Copy Number Variants play a role in psychosis.

    <p>True</p> Signup and view all the answers

    Which CNV is associated with a higher risk of developing schizophrenia?

    <p>All of the above</p> Signup and view all the answers

    CNVs are necessary and sufficient to cause schizophrenia.

    <p>False</p> Signup and view all the answers

    Some CNVs can increase risk for a broad range of neurodevelopmental conditions.

    <p>True</p> Signup and view all the answers

    There is a clear understanding of the role of CNVs in bipolar disorder.

    <p>False</p> Signup and view all the answers

    All CNVs affecting genomic regions are pathogenic.

    <p>False</p> Signup and view all the answers

    Pathogenic CNVs are extremely common.

    <p>False</p> Signup and view all the answers

    CNVs are the strongest known risk factors for schizophrenia.

    <p>True</p> Signup and view all the answers

    VCFS stands for Velo-Cardio-Facial Syndrome.

    <p>True</p> Signup and view all the answers

    VCFS affects approximately 1 in 1000 people.

    <p>False</p> Signup and view all the answers

    Every individual with VCFS will experience all of the same symptoms at varying levels of severity.

    <p>False</p> Signup and view all the answers

    Which of the following is NOT a common feature associated with VCFS?

    <p>All of the above</p> Signup and view all the answers

    Individuals with VCFS are at an increased risk of developing schizophrenia.

    <p>True</p> Signup and view all the answers

    The odds ratio for pathogenic CNVs in schizophrenia is usually high.

    <p>True</p> Signup and view all the answers

    Pathogenic CNVs only increase the risk for schizophrenia.

    <p>False</p> Signup and view all the answers

    Some CNVs that increase the risk for schizophrenia also increase the risk for epilepsy.

    <p>True</p> Signup and view all the answers

    The 22q11.2 deletion is the only CNV that can cause VCFS.

    <p>True</p> Signup and view all the answers

    Individuals with VCFS are at an increased risk of developing schizophrenia and bipolar disorder.

    <p>True</p> Signup and view all the answers

    Genetic testing for psychosis is a routine practice in the UK.

    <p>False</p> Signup and view all the answers

    Genetic counseling for psychosis can be done before and/or after genetic testing.

    <p>True</p> Signup and view all the answers

    Genetic counseling services for psychosis are not available in Canada and the UK.

    <p>False</p> Signup and view all the answers

    Pharmaco-genetics refers to the study of how genes influence drug response and side effects.

    <p>True</p> Signup and view all the answers

    Treatment for psychosis relies solely on pharmacological interventions.

    <p>False</p> Signup and view all the answers

    Genetic variations influence drug response and side effects.

    <p>True</p> Signup and view all the answers

    Genotype to phenotype refers to the process of how genetic variation influences an individual's physical and clinical characteristics.

    <p>True</p> Signup and view all the answers

    Study Notes

    Genetics of Schizophrenia and Bipolar Disorder

    • Heritability estimates for psychosis are around 80%
    • Genetic risk increases with relatedness to affected individuals
    • Risk is not entirely genetic; identical twins still only have a 50% chance of developing the condition.
    • Increased risk is due to genetic factors, not shared family environments.

    Risk Factors

    • Psychosis is caused by both environmental and genetic factors.

    Gregor Mendel

    • Discovered foundational laws of genetics while studying pea plants.
    • Published "Experiments in Plant Hybridisation" in 1866.
    • His work established Mendelian laws of inheritance.
    • Key Mendelian diseases include Huntington's disease, cystic fibrosis, and sickle-cell anaemia. These have predictable inheritance patterns.

    Mendelian Laws and Psychosis

    • Schizophrenia, Bipolar disorder, and other psychoses do not follow Mendelian inheritance patterns.
    • Their development is complex, involving multiple genetic risk factors, and environmental factors.

    Technology

    • Genome-wide association studies (GWAS) examine over a million genetic markers across the entire genome.
    • Exome sequencing studies segments of DNA coding for proteins.
    • These methods are beneficial in identifying CNVs.

    Genome Wide Association Studies (GWAS) and Common Genetic Variation in Psychosis

    • GWAS have identified many loci linked to schizophrenia and bipolar disorder, involving common genetic variations or SNPs.
    • More than 270 loci and 130 genes show statistically significant associations with schizophrenia in large studies.
    • Similar trends have been seen in bipolar disorder studies.

    Rare Genetic Variation (CNVs)

    • Rare Copy Number Variations (CNVs) have a higher impact on risk for psychosis.
    • Several loci are associated with CNVs increasing risk for schizophrenia.
    • Some CNVs are found in other conditions, likevelo-cardio-facial syndrome.
    • Some CNVs are capable of increasing the risk of multiple neurodevelopmental conditions.

    Key Points about Common Genetic Variations in Psychosis

    • Many thousands of common genetic variations (SNPs) are associated with schizophrenia and bipolar disorder.
    • Common variants have relatively low risk, odds ratio is small (usually 1.1-1.2).
    • There is genetic overlap between the conditions, so several loci increase the risk for both.

    Clinical Implications

    • Significant genetic variation is needed for research, but diagnosis still relies on symptoms for psychosis.
    • It is very complex to predict the development of psychosis.
    • Some genetic variants are more strongly linked to specific disorders.

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    Related Documents

    Genetics of Psychosis and Bipolar Disorder Updates PDF

    Description

    Explore the complex genetic and environmental factors contributing to schizophrenia and bipolar disorder. This quiz covers heritability, the impact of genetics, and the foundational work of Gregor Mendel in understanding genetic inheritance. Test your knowledge on these crucial topics in psychology and genetics.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser