Complex Disease and Pharmocogenetics Flashcards
What are Mendelian Triat
Controlled by single gene
Inheritance follows Mendel’s principles
What is a complex triat
Controlled by multiple gene + the effect of environment
What is an example of a mendelian triat
Earlobe attachment
ABO blood group
What is an example of a complex trait
Height, skin, eye colour, personality
What are mendelian disease
Haemophilia
Sickle cell anaemia
Cystic Fibrosis
Thalassaemia
What are examples of complex diseases
Diabetes
Cardiovascular disease
Cancer
Asthma
Hypertension
Mental Health Disease
Compare them with healthy individuals
What is the variation in chromosome base sequence between paternal and maternal
1% variation
Called single nucleotide polymorphisms
What is single nucleotide polymorphism
Where DNA sequence variations occur when a single nucleotide is changed
In 2001 how many base paris were published in the human genome
3 billion base pairs
What are genome wide association studies
Stratifying the sample population into different genotype group
10,000,000 SNPs in the genome
What are the genome-wide association studies disadvantages
False positive (concept of multiple testing)
Need large sample size
Robust findings
How do we perfomr genome wide association studies
Get disease and healthy cases
Perform gene analysis
One by one SNPs - using computer is faster
What is a risk allele
Alelle that can put you at risk of a disease
Facts about CVD
Leading cause of mortality
17 million annual deaths worldwide
30% of global mortality
CVD examples
Myocardial infarction
Heart Failure
Stroke
Disease of the peripheral vessel
Stenosis and blockage of blood vessels (atherosclerosis)
High risk conditions that increase risk of CVD
Modifiable - drinking, smoking, high blood pressure, diet, Obesity
Non modifiable - sex, age, genetics Type 2 Diabetes
Does high blood pressure relate to genes
Yes
Higher blood pressure leads to CVD, stroke, hypertension
How can we understand our phenotype diffferences
Compare MZ and DZ twins
What is broad sense heritability
Heritability based on gene studies
Formula for heritability estimate
2 (Monozygotic twins - dizygotic twins)
What is the case of missing heritability
GWAs help identify many genetic loci
Gap between herabiltiy of disease and GWAs
Reasons for msising heritability
Rare variants of SNPs but ignored
Low frequency variants
Interaction of genes and enviornment
Diagnosis (accuracy and precision)
What is heritability
Proportion of variation in the population explained by genetics and inheritance rather that environmental factors
What is pharmacogenetics
Study of variability in drug repsonse due to genetic differences
