Complex disease genetics

Question 1

How can a condition be assessed to prove it has a genetic contribution

Answer 1

family or twin studies

Question 2

Name two genes assoc with breast cancer and their penetrance rate

Answer 2

BRCA1, BRCA2

65%, 45%

Question 3

What are BRCA 1/2 associated with

Answer 3

Breast cancer mainly but also ovarian cancer

Question 4

What are the rare, high risk genes for Alzheimer’s disease

Answer 4

APP, PSEN 1, PSEN 2

Young onset AD

Question 5

What are the moderate risk genes for Alzheimer’s disease

Answer 5

APOE allele e4, rare variants in TREM2

Question 6

Describe the alleles in the APOE gene and how they are linked to AD

Answer 6

e4 = increased risk
e3 = baseline risk
e2 = decreased risk

e4/e4 combo gives the highest risk

Question 7

What are the common low risk genes for AD

Answer 7

SNPs in CLU, PICALM, CRU

Question 8

What is the p value used for GWAS

Answer 8

p < 5e-8