Complex Disease and Pharmacogenetics Flashcards
What are the 2 types of genetic diseases?
Mendelian diseases are controlled by a single gene and complex diseases are controlled by multiple genes. Genetics of complex traits are studied by Genome-wide association studies (GWAS) that analyze association between millions of single nucleotide polymorphisms (SNPs) throughout the genome with a complex disease.
What is heritability?
Heritability is the proportion of variation in the population explained by genetics and inheritance rather than environmental factors.
What is the purpose of pharmacogenetics?
Different people respond differently to the effect of medications. Genetic factors influence the way individuals respond to medication. Pharmacogenetics help improve health care by increasing administration of medication with high efficacy and low side effect for patients.
What are SNPs?
Single nucleotide polymorphisms are DNA sequence variations which occur when a single nucleotide is changed. They are the most common form of variation in the human genome.
How do genetic factors and medications interact?
Genetic factors influence the way individuals respond to medication – effects on metabolism, enzyme subtypes and concentrations, drug-receptor interactions etc.
Why is CVD a serious disease?
It is a leading cause of mortality and causes 17 million deaths annually worldwide. Responsible for 30% of global mortality and estimated to keep rising.
What is atherosclerosis and what can it cause?
Atherosclerosis is the stenosis and blockage of blood vessels. Can cause coronary heart disease, myocardial infarction, heart failure, stroke and diseases of the peripheral nervous system.
What determines CVD risk?
Multifactorial - both genetic and environmental factors influence it. Having high BP, obesity, T2 diabetes and high cholesterol are risk factors. To further understand genetic risk factors, requires understanding biology of CVD, ability to predict CVD, identify high risk groups and intensify preventative strategies in high risk groups.
What is missing heritability?
Genome-Wide Association studies help identification of many genetic loci but still a huge gap between what we know about heritability of the disease and what is found by GWAs. This is missing heritability.
What are reasons suggested for missing heritability?
- Rare variants (SNPs)
- Low frequency variants with intermediate effect
- Interactions
- Miscalculated estimation of heritability
- Diagnosis (accuracy and precision)
What is personalised medicine?
Tailoring treatment to patients depending on specific characteristics of their disease
