Genetics

Question 1

What are three methods that can be applied to identify genes associated/causal to peripheral artery disease?

Answer 1

1. Candidate Gene Approach
2. Linkage Analysis (old)
3. GWAS (Genome-Wide Association Studies)

Question 2

What is the Candidate Gene Approach?

Answer 2

Typically, a case-control approach that searches for statistical association between a specific genetic variant (i.e. a SNP) and a disease of interest.

Question 3

What is linkage analysis?

Answer 3

1. Family based approach in which genome is scanned for -prespecified DNA markers that are known to be highly variable. (microsatillites)
2. Regions that are found more commonly in diseased members of the family are said to be linked to the causative gene, which is then pursued with fine mapping (positional cloning)

Question 4

What is GWAS?

Answer 4

Genome-Wide Association Studies

• A novel approach in which SNPs are genotyped across the entire genome in subjects with and without a given disease (involves thousands of people across globe).
• SNPs that differ in frequency between cases in comparison with controls are “associated” with the disease

Question 5

What is a case-control study?

Answer 5

Compares subjects who have the disease (cases) to subjects that do not have the disease but are otherwise similar.