Complex genetic diseases

Question 1

What is heritability?

Answer 1

Study of genetic contribution to increased disease risk

Hard to distinguish genetic from non-genetic factors

Question 2

How can the heritability of a common complex disease be estimated?

Answer 2

GWAS to identify high risk SNPs statistically associated with disease

Question 3

How are genome wide association studies designed?

Answer 3

No hypothesis
Aim to find common variants in common disease
Identify SNPs statistically associated with disease

Question 4

How do GWAS contribute to our understanding of diabetes risk?

Answer 4

T2D over 100 loci associated with increased risk of diabetes BUT each have small observed effect size
SNPs 6% of T2 risk
Affect beta cell function not insulin resistance

Question 5

How can increased risk of polygenic disorders be mediated?

Answer 5

Risk increased by genomic copy number variation

Question 6

What distinguishes polygenic and monogenic diabetes?

Answer 6

Polygenic - not born with but may develop later, influenced by environment
Monogenic - Born with it and always going to develop it, not influenced by environment

Question 7

What are the implications of genetics for clinical management of diabetes?

Answer 7

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Question 8

What is a complex disease?

Answer 8

Disease with both a genetic and environmental component

Question 9

Define diabetes and what is the difference between type 1 and 2?

Answer 9

Chronic hyperglycaemic state characterised by:
type 1 - beta cell dysfunction
type 2 - insulin resistance