Podcast
Questions and Answers
Which of the following best describes the role of genetics in disease?
Which of the following best describes the role of genetics in disease?
- All diseases are entirely determined by genetics.
- Genetics plays a role in determining risk for almost all diseases. (correct)
- Genetics only plays a role in rare diseases.
- Genetics only influences disease susceptibility in specific populations.
All risk alleles for cancer have the same penetrance and population frequency.
All risk alleles for cancer have the same penetrance and population frequency.
False (B)
What type of genetic change typically causes monogenic diseases?
What type of genetic change typically causes monogenic diseases?
single gene mutation
A disease caused by the combined effect of multiple genes, each contributing a small increase in risk, is known as a ______ disease.
A disease caused by the combined effect of multiple genes, each contributing a small increase in risk, is known as a ______ disease.
Match the following disease types with the appropriate study approach for identifying disease genes:
Match the following disease types with the appropriate study approach for identifying disease genes:
In a case-control study, what is compared between the cases and controls?
In a case-control study, what is compared between the cases and controls?
An odds ratio less than 1 indicates a protective effect of the exposure or genetic trait being studied.
An odds ratio less than 1 indicates a protective effect of the exposure or genetic trait being studied.
In the context of odds ratio calculations, what do A, B, C, and D represent?
In the context of odds ratio calculations, what do A, B, C, and D represent?
The statistical significance of an odds ratio is typically assessed using ______ analysis.
The statistical significance of an odds ratio is typically assessed using ______ analysis.
Match the following study types with their best use case in identifying disease genes:
Match the following study types with their best use case in identifying disease genes:
What type of enzyme mediates the activation of cyclophosphamide?
What type of enzyme mediates the activation of cyclophosphamide?
Polymorphisms in CYP genes cannot affect the activation and elimination of cyclophosphamide.
Polymorphisms in CYP genes cannot affect the activation and elimination of cyclophosphamide.
In the study by Timm et al. (2005), what effect did carrying an inactive CYP2C19*2 allele have on cyclophosphamide elimination?
In the study by Timm et al. (2005), what effect did carrying an inactive CYP2C19*2 allele have on cyclophosphamide elimination?
According to Timm et al. (2005), individuals homozygous for CYP2C19*2 have a lower risk of developing ______.
According to Timm et al. (2005), individuals homozygous for CYP2C19*2 have a lower risk of developing ______.
Match the following disease examples with their respective genetic architecture:
Match the following disease examples with their respective genetic architecture:
What is a key characteristic of monogenic diseases?
What is a key characteristic of monogenic diseases?
Most human pathologies, like cancer and cardiovascular diseases, are considered monogenic.
Most human pathologies, like cancer and cardiovascular diseases, are considered monogenic.
Besides mutations, what other genetic factor can contribute to Acute Myeloid Leukemia (AML)?
Besides mutations, what other genetic factor can contribute to Acute Myeloid Leukemia (AML)?
Recurrence of a risk gene is strong evidence of its ______.
Recurrence of a risk gene is strong evidence of its ______.
Match the genetic disease with its appropriate identification method:
Match the genetic disease with its appropriate identification method:
Within case-control studies, what is the primary aim?
Within case-control studies, what is the primary aim?
In calculating the odds ratio, the value 'A' represents the number of non-diseased individuals with exposure to the risk allele.
In calculating the odds ratio, the value 'A' represents the number of non-diseased individuals with exposure to the risk allele.
What does a significant p-value (p < 0.05) indicate in the context of assessing the odds ratio?
What does a significant p-value (p < 0.05) indicate in the context of assessing the odds ratio?
The confidence interval is considered statistically significant if it does not include the value of ______.
The confidence interval is considered statistically significant if it does not include the value of ______.
Match the AML type to its description.
Match the AML type to its description.
What is a limitation of family studies?
What is a limitation of family studies?
Significant OR means p > 0.05
Significant OR means p > 0.05
What is the formula for Odds Ratio?
What is the formula for Odds Ratio?
Homozygous for CYP2C19*2 have a higher probability of poor ______ response
Homozygous for CYP2C19*2 have a higher probability of poor ______ response
Match the following study types with identifying a particular disease
Match the following study types with identifying a particular disease
If a patient is on cyclophosphamide treatment, what happens if a patient has an inactive CYP2C19 allele?
If a patient is on cyclophosphamide treatment, what happens if a patient has an inactive CYP2C19 allele?
Risk alleles for diseases are of the same population frequency
Risk alleles for diseases are of the same population frequency
In polygenic diseases, how many genes are involved?
In polygenic diseases, how many genes are involved?
The recurrence of a risk gene indicates it is ______.
The recurrence of a risk gene indicates it is ______.
Match the following disease with their gene mutation
Match the following disease with their gene mutation
Which of the following is not an approach use to identify disease genes in monogenic?
Which of the following is not an approach use to identify disease genes in monogenic?
In order for p to be significant, the p-value should be p > 0.05
In order for p to be significant, the p-value should be p > 0.05
What is GWAS?
What is GWAS?
______ plays a role in determining risk for almost all disease.
______ plays a role in determining risk for almost all disease.
Match the following variants to their function
Match the following variants to their function
Flashcards
Disease Gene
Disease Gene
A gene that contributes to the development of a disease. The extent of the genetic component varies across different conditions.
Monogenic Disease
Monogenic Disease
Mutations in a single gene that result in a high probability of developing a disease.
Polygenic Disease
Polygenic Disease
Multiple genes are involved, each contributing a small increase in disease risk.
Case-Control Study
Case-Control Study
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Odds Ratio
Odds Ratio
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Monogenic disease
Monogenic disease
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Study Notes
- Almost all diseases have a genetic component that determines risk, but the extent of this component varies.
- Familial studies and population-based genome-wide association studies (GWAS) have contributed to understanding genetic risk.
- Cyclophosphamide activation to 4-hydroxycyclophosphamide, mediated by CYP3A4, CYP2C9, CYP2C19 & CYP2B6, is affected by polymorphisms in corresponding genes.
- A study by Timm et al (2005) on 60 cancer patients on cyclophosphamide displayed that those carrying an inactive CYP2C19*2 allele had decreased elimination of cyclophosphamide
- Individuals homozygous for CYP2C19*2 have a lower risk of developing ovarian failure but a higher probability of poor renal response.
Penetrance of Risk Alleles for Cancer
- Risk alleles for cancer vary in penetrance and population frequency and can be monogenic or polygenic.
Monogenic Diseases
- Monogenic diseases are caused by a single gene, resulting in a high probability of disease, such as a BCRA1 mutation causing breast cancer.
Polygenic Diseases
- Polygenic diseases involve several or numerous genes inherited by an individual, with each gene conferring a small increase in risk.
- Most human pathologies, like cancer and cardiovascular diseases, are polygenic.
Acute Myeloid Leukemia (AML)
- AML can be a monogenic disease, with rare high-penetrance variants
- Some risk genes also mutate somatically, and some are responsible for human syndromes with AML as a component
- Recurrence is strong evidence of functionality, indicating a disease-causing effect.
Identification of Disease Genes
- Monogenic diseases are identified through family studies using linkage of microsatellite markers and exome sequencing.
- Polygenic diseases are identified through case-control association studies, candidate gene association or GWAS using unrelated individuals.
- Family studies are more useful for rare, high-penetrance diseases.
Case-Control Studies
- Case-control studies determine disease development risk by comparing the frequency of a genetic trait in cases and matched controls.
- An odds ratio (OR) is calculated to assess the risk
- The odds ratio is the ratio of odds of exposure among the diseased (A/C) compared to non-diseased (B/D), calculated as (A x D) / (B x C).
- The significance of the odds ratio is assessed using X2 analysis, with significance if p<0.05, and a 95% confidence interval is calculated.
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