Podcast
Questions and Answers
What percentage of the variance in Schizophrenia risk is explained by the Polygenic Risk Score?
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?
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?
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?
Why are Polygenic Risk Scores not currently used for clinical screening?
What is the effect of dataset quality on the Polygenic Risk Score?
What is the effect of dataset quality on the Polygenic Risk Score?
What is a primary advantage of utilizing GWAS and sequencing in genetic research?
What is a primary advantage of utilizing GWAS and sequencing in genetic research?
In the genome wide association study on schizophrenia, how many loci have shown significant associations?
In the genome wide association study on schizophrenia, how many loci have shown significant associations?
What type of analysis was conducted for gene prioritization in the bipolar disorder GWAS?
What type of analysis was conducted for gene prioritization in the bipolar disorder GWAS?
Which of the following genes is implicated in both schizophrenia and bipolar disorder?
Which of the following genes is implicated in both schizophrenia and bipolar disorder?
What does the red line on the Manhattan plot represent in the GWAS for bipolar disorder?
What does the red line on the Manhattan plot represent in the GWAS for bipolar disorder?
How many samples were included in the schizophrenia study conducted across 40+ countries?
How many samples were included in the schizophrenia study conducted across 40+ countries?
Which gene product is a key target of antipsychotic medications and is associated with schizophrenia?
Which gene product is a key target of antipsychotic medications and is associated with schizophrenia?
What does the y-axis of the Manhattan plot in the bipolar disorder GWAS represent?
What does the y-axis of the Manhattan plot in the bipolar disorder GWAS represent?
What is the estimated heritability of psychosis based on family, twin, and adoption studies?
What is the estimated heritability of psychosis based on family, twin, and adoption studies?
Which statement best describes the relationship between genetic and environmental factors in psychosis?
Which statement best describes the relationship between genetic and environmental factors in psychosis?
How do the inheritance patterns of psychotic disorders differ from Mendelian diseases?
How do the inheritance patterns of psychotic disorders differ from Mendelian diseases?
What is the primary purpose of Genome Wide Association Studies (GWAS)?
What is the primary purpose of Genome Wide Association Studies (GWAS)?
Which of the following is NOT mentioned as a complex genetic disease?
Which of the following is NOT mentioned as a complex genetic disease?
What is one reason why understanding the genetics of psychosis is challenging?
What is one reason why understanding the genetics of psychosis is challenging?
What does exome sequencing specifically target in DNA?
What does exome sequencing specifically target in DNA?
What type of genetic variant is particularly associated with large effects in diseases such as psychosis?
What type of genetic variant is particularly associated with large effects in diseases such as psychosis?
What is the primary aim of genetic counselling?
What is the primary aim of genetic counselling?
How does genetics influence the effectiveness of antipsychotic treatment?
How does genetics influence the effectiveness of antipsychotic treatment?
What distinguishes genetic counselling from genetic testing?
What distinguishes genetic counselling from genetic testing?
What is a key feature of the pharmacogenetic approach in medication treatment?
What is a key feature of the pharmacogenetic approach in medication treatment?
What is a known limitation of psychiatric genetic testing in the UK?
What is a known limitation of psychiatric genetic testing in the UK?
What is the significance of Copy Number Variants (CNVs) in relation to schizophrenia?
What is the significance of Copy Number Variants (CNVs) in relation to schizophrenia?
What does the Polygenic Risk Score (PRS) measure?
What does the Polygenic Risk Score (PRS) measure?
Which statement accurately describes the findings from the SCHEMA consortium study?
Which statement accurately describes the findings from the SCHEMA consortium study?
What is one of the challenges faced in the genetic study of bipolar disorder compared to schizophrenia?
What is one of the challenges faced in the genetic study of bipolar disorder compared to schizophrenia?
What recent finding is associated with Single Nucleotide Variants (SNVs) in the study of schizophrenia?
What recent finding is associated with Single Nucleotide Variants (SNVs) in the study of schizophrenia?
What role do rare genetic variants play according to recent studies on schizophrenia?
What role do rare genetic variants play according to recent studies on schizophrenia?
What is one of the outcomes of the large-scale GWAS conducted by international consortia?
What is one of the outcomes of the large-scale GWAS conducted by international consortia?
What does the research suggest about the predictability of psychosis development?
What does the research suggest about the predictability of psychosis development?
Which of the following must be true for a trait to serve as a marker of genetic risk?
Which of the following must be true for a trait to serve as a marker of genetic risk?
What characterizes intermediate/alternative phenotypes?
What characterizes intermediate/alternative phenotypes?
What do polygenic risk scores (PRS) for schizophrenia indicate?
What do polygenic risk scores (PRS) for schizophrenia indicate?
What is one of the clinical implications of genetic findings in psychosis?
What is one of the clinical implications of genetic findings in psychosis?
How do CNV carriers compare in terms of cognition?
How do CNV carriers compare in terms of cognition?
What does the term 'dimensional view of psychosis' in genetic data imply?
What does the term 'dimensional view of psychosis' in genetic data imply?
What role do SNPs with small effects play in psychosis-related research?
What role do SNPs with small effects play in psychosis-related research?
Why is there a discrepancy between genetic findings and clinical classification systems like ICD-10 or DSM-V?
Why is there a discrepancy between genetic findings and clinical classification systems like ICD-10 or DSM-V?
What does a high Polygenic Risk Score (PRS) for Schizophrenia indicate?
What does a high Polygenic Risk Score (PRS) for Schizophrenia indicate?
Which of the following best describes the variance explained by the Schizophrenia PRS?
Which of the following best describes the variance explained by the Schizophrenia PRS?
Which statement highlights a limitation of Polygenic Risk Scores in clinical applications?
Which statement highlights a limitation of Polygenic Risk Scores in clinical applications?
What is the primary aim of genetic counselling in the context of genetic disorders?
What is the primary aim of genetic counselling in the context of genetic disorders?
How does genetic variation influence pharmacogenetics in antipsychotic treatment?
How does genetic variation influence pharmacogenetics in antipsychotic treatment?
What is the impact of dataset quality on the accuracy of Polygenic Risk Scores?
What is the impact of dataset quality on the accuracy of Polygenic Risk Scores?
Which of the following statements is true about the significance of Polygenic Risk Scores for Bipolar Disorder?
Which of the following statements is true about the significance of Polygenic Risk Scores for Bipolar Disorder?
Which statement best describes the distinction between genetic counselling and genetic testing?
Which statement best describes the distinction between genetic counselling and genetic testing?
What role does understanding biological mechanisms play in the development of new medications?
What role does understanding biological mechanisms play in the development of new medications?
Which of the following is a challenge faced in routine genetic testing for psychosis in the UK?
Which of the following is a challenge faced in routine genetic testing for psychosis in the UK?
What is a significant benefit of using GWAS in genetic research?
What is a significant benefit of using GWAS in genetic research?
Which gene is primarily implicated as a target for antipsychotic medications in schizophrenia?
Which gene is primarily implicated as a target for antipsychotic medications in schizophrenia?
How many samples were used in the bipolar disorder GWAS?
How many samples were used in the bipolar disorder GWAS?
In a GWAS, what does the y-axis represent in the Manhattan plot?
In a GWAS, what does the y-axis represent in the Manhattan plot?
How many loci showed significant associations with schizophrenia according to recent research?
How many loci showed significant associations with schizophrenia according to recent research?
What does eQTL analysis help prioritize in GWAS findings?
What does eQTL analysis help prioritize in GWAS findings?
What does the Major Histocompatibility Complex (MHC) gene associate with?
What does the Major Histocompatibility Complex (MHC) gene associate with?
Which one of the following genes is newly associated with bipolar disorder according to the GWAS findings?
Which one of the following genes is newly associated with bipolar disorder according to the GWAS findings?
What percentage of heritability estimates is associated with psychosis?
What percentage of heritability estimates is associated with psychosis?
Which of the following statements is true regarding the genetic risk of psychosis?
Which of the following statements is true regarding the genetic risk of psychosis?
What distinguishes psychotic disorders from Mendelian diseases?
What distinguishes psychotic disorders from Mendelian diseases?
What is a characteristic of common genetic variants in psychosis?
What is a characteristic of common genetic variants in psychosis?
Which technology is primarily used in GWAS to identify genetic markers?
Which technology is primarily used in GWAS to identify genetic markers?
What is the focus of whole exome sequencing in genetic research?
What is the focus of whole exome sequencing in genetic research?
Which of the following is true about the role of genetic and environmental factors in psychosis?
Which of the following is true about the role of genetic and environmental factors in psychosis?
What challenges are presented by the genetics of psychosis?
What challenges are presented by the genetics of psychosis?
What type of genetic variant is particularly associated with an increased risk of developing schizophrenia?
What type of genetic variant is particularly associated with an increased risk of developing schizophrenia?
Which of the following best describes Polygenic Risk Scores (PRS)?
Which of the following best describes Polygenic Risk Scores (PRS)?
How many common genetic loci have been identified that confer subtle increases in risk for schizophrenia or bipolar disorder?
How many common genetic loci have been identified that confer subtle increases in risk for schizophrenia or bipolar disorder?
Which study focused on identifying single nucleotide variants associated with schizophrenia?
Which study focused on identifying single nucleotide variants associated with schizophrenia?
What has recent research suggested about predicting the development of psychosis?
What has recent research suggested about predicting the development of psychosis?
What is a necessary characteristic for a trait to serve as a marker of genetic risk?
What is a necessary characteristic for a trait to serve as a marker of genetic risk?
What defines intermediate/alternative phenotypes in the context of genetic findings?
What defines intermediate/alternative phenotypes in the context of genetic findings?
What is a limitation noted in the research regarding bipolar disorder compared to schizophrenia?
What is a limitation noted in the research regarding bipolar disorder compared to schizophrenia?
What is one of the potential benefits of understanding endophenotypes in psychosis?
What is one of the potential benefits of understanding endophenotypes in psychosis?
What role do rare genetic variants play in the risk of developing schizophrenia?
What role do rare genetic variants play in the risk of developing schizophrenia?
What genetic mechanism is specifically associated with larger structural variations in the genome for schizophrenia?
What genetic mechanism is specifically associated with larger structural variations in the genome for schizophrenia?
Which statement accurately reflects the relationship between genetic findings and clinical classification systems?
Which statement accurately reflects the relationship between genetic findings and clinical classification systems?
How do CNV carriers compare to non-carrier patients in terms of spatial awareness?
How do CNV carriers compare to non-carrier patients in terms of spatial awareness?
What is the significance of SNPs with small effects in psychiatric genetic research?
What is the significance of SNPs with small effects in psychiatric genetic research?
What is one finding about Polygenic Risk Scores for schizophrenia as indicated in the context?
What is one finding about Polygenic Risk Scores for schizophrenia as indicated in the context?
What does the term 'dimensional view of psychosis' suggest about genetic data?
What does the term 'dimensional view of psychosis' suggest about genetic data?
What are the heritability estimates for psychosis?
What are the heritability estimates for psychosis?
Studies show that the risk of psychosis increases with genetic relatedness to an affected person.
Studies show that the risk of psychosis increases with genetic relatedness to an affected person.
Identical twins have a 100% chance of both developing psychosis if one twin is affected by it.
Identical twins have a 100% chance of both developing psychosis if one twin is affected by it.
The increased risk of psychosis in families is solely due to sharing the same environment.
The increased risk of psychosis in families is solely due to sharing the same environment.
Who discovered the basic laws of genetics?
Who discovered the basic laws of genetics?
What year did Gregor Mendel publish his paper "Experiments in Plant Hybridisation"?
What year did Gregor Mendel publish his paper "Experiments in Plant Hybridisation"?
Which of the following diseases are considered "Mendelian" diseases?
Which of the following diseases are considered "Mendelian" diseases?
Psychotic disorders follow Mendelian laws.
Psychotic disorders follow Mendelian laws.
Schizophrenia and bipolar disorder are COMPLEX GENETIC DISEASES.
Schizophrenia and bipolar disorder are COMPLEX GENETIC DISEASES.
Schizophrenia and bipolar disorder are ONLY caused by genetic risk factors.
Schizophrenia and bipolar disorder are ONLY caused by genetic risk factors.
Complex traits/diseases and interactions of genetic and environmental influences do not follow Mendelian patterns.
Complex traits/diseases and interactions of genetic and environmental influences do not follow Mendelian patterns.
Which of the following is NOT considered a complex trait/disease?
Which of the following is NOT considered a complex trait/disease?
Which of the following is NOT a reason why the genetics of psychosis is a tough job?
Which of the following is NOT a reason why the genetics of psychosis is a tough job?
What are the two main technologies used to study genetics?
What are the two main technologies used to study genetics?
What does GWAS stand for?
What does GWAS stand for?
GWAS is NOT successful in identifying CNVs.
GWAS is NOT successful in identifying CNVs.
Whole genome sequencing examines only a specific part of the DNA sequence.
Whole genome sequencing examines only a specific part of the DNA sequence.
What does exome sequencing examine?
What does exome sequencing examine?
GWAS and sequencing require a priori hypothesis.
GWAS and sequencing require a priori hypothesis.
GWAS has been successful in identifying loci/genetic variants associated with complex diseases.
GWAS has been successful in identifying loci/genetic variants associated with complex diseases.
Genome-wide association study on schizophrenia was conducted only in the United States.
Genome-wide association study on schizophrenia was conducted only in the United States.
Manhattan plot depicts correlations between genes and schizophrenia.
Manhattan plot depicts correlations between genes and schizophrenia.
Genome-wide association study on schizophrenia has identified more than 270 loci.
Genome-wide association study on schizophrenia has identified more than 270 loci.
Genome-wide association study on schizophrenia has identified more than 130 genes that may influence the disease.
Genome-wide association study on schizophrenia has identified more than 130 genes that may influence the disease.
GWAS for bipolar disorder was first conducted in 2021.
GWAS for bipolar disorder was first conducted in 2021.
Manhattan plot for bipolar disorder depicts correlations between genes and schizophrenia.
Manhattan plot for bipolar disorder depicts correlations between genes and schizophrenia.
Genome-wide association study on bipolar disorder included more than 41,900 individuals with bipolar disorder.
Genome-wide association study on bipolar disorder included more than 41,900 individuals with bipolar disorder.
Genome-wide association study on bipolar disorder included more than 371,500 controls.
Genome-wide association study on bipolar disorder included more than 371,500 controls.
In a Manhattan plot for bipolar disorder, the x-axis represents:
In a Manhattan plot for bipolar disorder, the x-axis represents:
The genome-wide significance threshold is P < 5 x 10^-8.
The genome-wide significance threshold is P < 5 x 10^-8.
Genome-wide association studies on bipolar disorder have identified around 30 SNPs.
Genome-wide association studies on bipolar disorder have identified around 30 SNPs.
Novel associations with bipolar disorder are represented in yellow in a Manhattan plot.
Novel associations with bipolar disorder are represented in yellow in a Manhattan plot.
Previous association with bipolar disorder is represented in green in a Manhattan plot.
Previous association with bipolar disorder is represented in green in a Manhattan plot.
Which gene is a key target of antipsychotic medications?
Which gene is a key target of antipsychotic medications?
DRD2 shows significant association with schizophrenia in GWAS.
DRD2 shows significant association with schizophrenia in GWAS.
Which gene plays an important role in acquired immunity?
Which gene plays an important role in acquired immunity?
Which gene is important in neuronal function?
Which gene is important in neuronal function?
Which gene is involved in glutamate transmission?
Which gene is involved in glutamate transmission?
Which gene is associated with bipolar disorder, but not schizophrenia?
Which gene is associated with bipolar disorder, but not schizophrenia?
Several thousands of common genetic variants (SNVs) are associated with schizophrenia and/or bipolar disorder.
Several thousands of common genetic variants (SNVs) are associated with schizophrenia and/or bipolar disorder.
Many individuals carry common genetic variations that influence the risk for schizophrenia and bipolar disorder.
Many individuals carry common genetic variations that influence the risk for schizophrenia and bipolar disorder.
The odds ratio for common genetic variants in schizophrenia and bipolar disorder is typically small.
The odds ratio for common genetic variants in schizophrenia and bipolar disorder is typically small.
Common genetic variants for schizophrenia and bipolar disorder are the sole determinants of the disease.
Common genetic variants for schizophrenia and bipolar disorder are the sole determinants of the disease.
There is no genetic overlap between schizophrenia and bipolar disorder.
There is no genetic overlap between schizophrenia and bipolar disorder.
All genetic variants affecting the risk for both schizophrenia and bipolar disorder are non-specific.
All genetic variants affecting the risk for both schizophrenia and bipolar disorder are non-specific.
Rare genetic variations AKA Copy Number Variants play a role in psychosis.
Rare genetic variations AKA Copy Number Variants play a role in psychosis.
Which CNV is associated with a higher risk of developing schizophrenia?
Which CNV is associated with a higher risk of developing schizophrenia?
CNVs are necessary and sufficient to cause schizophrenia.
CNVs are necessary and sufficient to cause schizophrenia.
Some CNVs can increase risk for a broad range of neurodevelopmental conditions.
Some CNVs can increase risk for a broad range of neurodevelopmental conditions.
There is a clear understanding of the role of CNVs in bipolar disorder.
There is a clear understanding of the role of CNVs in bipolar disorder.
All CNVs affecting genomic regions are pathogenic.
All CNVs affecting genomic regions are pathogenic.
Pathogenic CNVs are extremely common.
Pathogenic CNVs are extremely common.
CNVs are the strongest known risk factors for schizophrenia.
CNVs are the strongest known risk factors for schizophrenia.
VCFS stands for Velo-Cardio-Facial Syndrome.
VCFS stands for Velo-Cardio-Facial Syndrome.
VCFS affects approximately 1 in 1000 people.
VCFS affects approximately 1 in 1000 people.
Every individual with VCFS will experience all of the same symptoms at varying levels of severity.
Every individual with VCFS will experience all of the same symptoms at varying levels of severity.
Which of the following is NOT a common feature associated with VCFS?
Which of the following is NOT a common feature associated with VCFS?
Individuals with VCFS are at an increased risk of developing schizophrenia.
Individuals with VCFS are at an increased risk of developing schizophrenia.
The odds ratio for pathogenic CNVs in schizophrenia is usually high.
The odds ratio for pathogenic CNVs in schizophrenia is usually high.
Pathogenic CNVs only increase the risk for schizophrenia.
Pathogenic CNVs only increase the risk for schizophrenia.
Some CNVs that increase the risk for schizophrenia also increase the risk for epilepsy.
Some CNVs that increase the risk for schizophrenia also increase the risk for epilepsy.
The 22q11.2 deletion is the only CNV that can cause VCFS.
The 22q11.2 deletion is the only CNV that can cause VCFS.
Individuals with VCFS are at an increased risk of developing schizophrenia and bipolar disorder.
Individuals with VCFS are at an increased risk of developing schizophrenia and bipolar disorder.
Genetic testing for psychosis is a routine practice in the UK.
Genetic testing for psychosis is a routine practice in the UK.
Genetic counseling for psychosis can be done before and/or after genetic testing.
Genetic counseling for psychosis can be done before and/or after genetic testing.
Genetic counseling services for psychosis are not available in Canada and the UK.
Genetic counseling services for psychosis are not available in Canada and the UK.
Pharmaco-genetics refers to the study of how genes influence drug response and side effects.
Pharmaco-genetics refers to the study of how genes influence drug response and side effects.
Treatment for psychosis relies solely on pharmacological interventions.
Treatment for psychosis relies solely on pharmacological interventions.
Genetic variations influence drug response and side effects.
Genetic variations influence drug response and side effects.
Genotype to phenotype refers to the process of how genetic variation influences an individual's physical and clinical characteristics.
Genotype to phenotype refers to the process of how genetic variation influences an individual's physical and clinical characteristics.
Flashcards
Heritability of Psychosis
Heritability of Psychosis
Roughly 80% of psychosis risk is attributed to genetic factors, although environmental influences also play a significant role.
Complex Genetic Disease
Complex Genetic Disease
Psychosis (e.g., schizophrenia, bipolar disorder) is caused by multiple genetic and environmental factors that interact in complex ways.
Mendelian Inheritance
Mendelian Inheritance
Predictable inheritance patterns of traits governed by a single gene.
Psychosis vs. Mendelian Traits
Psychosis vs. Mendelian Traits
Signup and view all the flashcards
GWAS (Genome Wide Association Studies)
GWAS (Genome Wide Association Studies)
Signup and view all the flashcards
Copy Number Variants
Copy Number Variants
Signup and view all the flashcards
Common Variants
Common Variants
Signup and view all the flashcards
Whole Genome/Exome Sequencing
Whole Genome/Exome Sequencing
Signup and view all the flashcards
Polygenic Risk Score (PRS)
Polygenic Risk Score (PRS)
Signup and view all the flashcards
PRS for Schizophrenia vs. Bipolar Disorder
PRS for Schizophrenia vs. Bipolar Disorder
Signup and view all the flashcards
PRS: Clinical Use?
PRS: Clinical Use?
Signup and view all the flashcards
PRS and Accuracy
PRS and Accuracy
Signup and view all the flashcards
PRS and Common Variants
PRS and Common Variants
Signup and view all the flashcards
GWAS
GWAS
Signup and view all the flashcards
Sequencing
Sequencing
Signup and view all the flashcards
Manhattan Plot
Manhattan Plot
Signup and view all the flashcards
Schizophrenia
Schizophrenia
Signup and view all the flashcards
Bipolar Disorder
Bipolar Disorder
Signup and view all the flashcards
SNP (Single Nucleotide Polymorphism)
SNP (Single Nucleotide Polymorphism)
Signup and view all the flashcards
Genome-wide significance
Genome-wide significance
Signup and view all the flashcards
Loci
Loci
Signup and view all the flashcards
Increased Schizophrenia/Bipolar Risk
Increased Schizophrenia/Bipolar Risk
Signup and view all the flashcards
Rare Genetic Variants (CNVs)
Rare Genetic Variants (CNVs)
Signup and view all the flashcards
Common Genetic Variants (loci)
Common Genetic Variants (loci)
Signup and view all the flashcards
Single Nucleotide Variants (SNVs)
Single Nucleotide Variants (SNVs)
Signup and view all the flashcards
Exome Sequencing
Exome Sequencing
Signup and view all the flashcards
Schizophrenia Exome Sequencing Meta-Analysis (SCHEMA)
Schizophrenia Exome Sequencing Meta-Analysis (SCHEMA)
Signup and view all the flashcards
Genetic Predisposition
Genetic Predisposition
Signup and view all the flashcards
DRD2 Receptor
DRD2 Receptor
Signup and view all the flashcards
Genetic Counseling
Genetic Counseling
Signup and view all the flashcards
Pharmacogenetics
Pharmacogenetics
Signup and view all the flashcards
Genotype to Phenotype
Genotype to Phenotype
Signup and view all the flashcards
Why is pharmacogenetics important?
Why is pharmacogenetics important?
Signup and view all the flashcards
What are endophenotypes?
What are endophenotypes?
Signup and view all the flashcards
What are examples of intermediate phenotypes?
What are examples of intermediate phenotypes?
Signup and view all the flashcards
How can endophenotypes help us understand psychosis?
How can endophenotypes help us understand psychosis?
Signup and view all the flashcards
What is a polygenic risk score (PRS)?
What is a polygenic risk score (PRS)?
Signup and view all the flashcards
What are the clinical implications of genetics for disease classification?
What are the clinical implications of genetics for disease classification?
Signup and view all the flashcards
Why do small genetic effects matter?
Why do small genetic effects matter?
Signup and view all the flashcards
What is the connection between CNVs and cognition?
What is the connection between CNVs and cognition?
Signup and view all the flashcards
How can endophenotypes help to stratify patients?
How can endophenotypes help to stratify patients?
Signup and view all the flashcards
Mendelian Inheritance vs. Psychosis
Mendelian Inheritance vs. Psychosis
Signup and view all the flashcards
Rare Variants (CNVs)
Rare Variants (CNVs)
Signup and view all the flashcards
Genome-Wide Association Studies (GWAS)
Genome-Wide Association Studies (GWAS)
Signup and view all the flashcards
Whole Genome Sequencing
Whole Genome Sequencing
Signup and view all the flashcards
Schizophrenia PRS
Schizophrenia PRS
Signup and view all the flashcards
Bipolar PRS
Bipolar PRS
Signup and view all the flashcards
PRS Accuracy for Diagnosis?
PRS Accuracy for Diagnosis?
Signup and view all the flashcards
What makes the Schizophrenia PRS better?
What makes the Schizophrenia PRS better?
Signup and view all the flashcards
PRS: What's it good for?
PRS: What's it good for?
Signup and view all the flashcards
GWAS & Sequencing
GWAS & Sequencing
Signup and view all the flashcards
MHC (Major Histocompatibility Complex)
MHC (Major Histocompatibility Complex)
Signup and view all the flashcards
CACNA1C
CACNA1C
Signup and view all the flashcards
Dimensionality of Psychosis
Dimensionality of Psychosis
Signup and view all the flashcards
Common Variants for Psychosis
Common Variants for Psychosis
Signup and view all the flashcards
Rare Variants for Psychosis
Rare Variants for Psychosis
Signup and view all the flashcards
SCHEMA Consortium Study
SCHEMA Consortium Study
Signup and view all the flashcards
Copy Number Variants (CNVs)
Copy Number Variants (CNVs)
Signup and view all the flashcards
Endophenotypes
Endophenotypes
Signup and view all the flashcards
Intermediate Phenotypes
Intermediate Phenotypes
Signup and view all the flashcards
CNVs and Cognition
CNVs and Cognition
Signup and view all the flashcards
Dimensional View of Psychosis
Dimensional View of Psychosis
Signup and view all the flashcards
Clinical Implications of Genetics
Clinical Implications of Genetics
Signup and view all the flashcards
Small Effects Matter
Small Effects Matter
Signup and view all the flashcards
Endophenotypes for Personalized Treatment
Endophenotypes for Personalized Treatment
Signup and view all the flashcards
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.
Related Documents
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.
