Complex Disease And Pharmocogenetics Flashcards
What is a Mendelian trait?
Controlled by a single gene
Flows Mendel’s principals
What is a complex trait?
Controlled by multiple genes + effects of environment
What are examples of quantitive traits?
Height
Weight
Intelligence
Blood pressure
What is an example of a complex disease?
Cardiovascular diseaase
What are the causes of phenotypic differences?
Genetic differences
Shared environment
Unique environment
How to use twin studies to find out how much of our phenotype difference is due to genetic differences?
Monozygotic twins - 100% shared genetic component
Dizygotic twins - 50% shared genetic component
E.g compare heights —> find correlation between twin height pars
What is an SNP?
Single nucleotide polymorphism
Most common variation in human genome
Change in a single nucleotide in genetic sequence —> can be coding or non-coding region
What are the benefits if genome wide association studies?
Identify at risk individuals
Discovery if novel biological mechanisms
Inform drug discovery or repurposing
Identify ethnic differences
What are the limitations of genome-wide association studies?
Doesn’t identify casual variants —> further testing required
Can’t identify all heritability
Thresholds —> won’t identify variants
Environmental influence —> epigenetics
What is while genome sequencing?
Entire genome scrutinised —> every SNP can be identified
Clear identification of disease and disease risk
What is pharmacogenetics?
Study of variability in drug response due to genetic differences
What is the purpose of pharmacogenetics?
Improve drug therapy and prescribing in the future
How can genes affect drug interactions with the body?
Drug absorbed in body and travels to target organs
Genes affect drug interaction by controlling things like receptors on the surface of the organ cells
Drug them metabolised and removed from the body through kidneys, liver —> genes can affect drug interactions w/ body
Effect of metabolism on drugs…
Increased metabolism could lead to overdose
Decreased metabolism could mean drug has no effect as it is quickly removed from the body
