Complex Disease and pharmacogenetics Flashcards
What is a Mendelian trait
Controlled by a single gene and follows Mendels principles
What is a complex trait
Controlled by multiple genes and the effect of environment.
E.g. hair, skin , eye colour
Height weight
Personality
Mendelian / monogenic disease
Haemophilia
Sickle cell anaemia
Cystic fibrosis
Thalassaemia
Complex disease
Diabetes, cardiovascular disease, cancer, asthma ,hypertension , mental health diseases
What is a single nucleotide polymorphisms?
SNPs - DNA sequence variations that occur when a single nucleotide is changed and the SNPs are the most common form of variation in the human genome
What are the aims of the human genome project
Understanding the structure of genomes Understanding biology of genomes Understanding biology of disease Advancing the science of medicine Improving effectiveness of healthcare
What does a Manhattan plot show
Association of SNPs
Broad sense heritability
H2= 2( r mz-r Dz)
What is missing heritability
Difference between SNP base of heritability - if a phenotype has a known heritability of 40% , the genome wide associations loci for the phenotype may be less than 5-10% - this is the so called missing heritability
Reason for missing heritability
Rare variants ( SNPs)
Low frequency variants with intermediate effect
Interactions
Miscalculated estimation of heritability
Diagnosis ( accuracy and precision )
What is heritability
The proportion of variation in the population explained by inheritance and genetics rather than environmental factors
Pharmacogenetics
The study of variability in drug response due to genetic differences
How can target organ genes interfere with the effect of drugs
By obstruction the interaction of the drug with the target drug
How does metabolism affect the drug action
The drug may be removed from the body through the kidney and liver. If the genes increase the metabolism of the drug causes the drug to have no effect as it is
Decreased metabolism of drug could cause overdose
Ideal scenario of a drug
Increased efficacy and decreased adverse effects
