Genetic factors
11 important questions on Genetic factors
Name a few examples of chromosomal abnormalities (and CVD)
- Down syndrome
- extra chromosome 21
- Turner syndrome
- missing one chromosome
- Edward syndrome
- extra chromosome 18
Name a few examples of monogenic diseases
- Sickle-cell anaemia
- Familial hypercholesterolemia
- Hemophilia A
- Monogenic obesity
Name a few examples of polygenic diseases
- Polygenic, multifactorial, or complex diseases
- Complex inheritance: no single gene is responsible for the variation in the disease risk
- Effects of multiple genes - each with only moderate effect, in combination with environmental factors
- e.g. Type 2 diabetes, hypertension, obesity, coronary artery disease, etc.
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What is the difference between polygenic and monogenic diseases
- Mild phenotypes, small effects
- Late onset
- Common
- Complex inheritance
- Thousands of people needed to study
Monogenic disease
- More severe phenotypes, large effect
- Often early onset
- Relatively rare
- Mendelian inheritance pattern
- one or a few families needed to study
3 types of finding genes for complex traits and diseases
- Sequencing of the human genome (2001)
- Characterizing genetic variants in human populations, public, databases of whole genome (2005)
- Genome-wide association studies
How much can GWAS explain in BP?
All SNPA in a genetic risk sore explained 2.9% of SBP and 2.5% of DBP
What are the missing heritability problems?
- GWASs cannot pick up common genes with small effects?
- The role of genes may have been overestimated from twin studies
- Heterogeneity in study populations (dilution)
- Role of epigenetic
- Interactions
Gene x diet interactions
What are the future directions
- Much larger number od SNPs of smaller effect yet to be found
- use of GRS in clinical practice?
- Gene-environment interaction
- Gene-gene interactions
- Mendelian randomisation
- Beyond DNA sequence: epigenetic markers
- Integration of data: system genetics, multi-omics
Traditional observational study
Confounding is a problem here, smoking can also have influences
Mendelian randomisation studies =>
- Analogy to randomised controlled trail
- Genes are randomly allocated at conception and are not affected by environmental or lifestyle factors --> no confounding
- If there is an association between the genotype that predicts the exposure we can infer that the exposure is a causal factor for the event
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