Complex disease genetics Flashcards
1
Q
How can a condition be assessed to prove it has a genetic contribution
A
family or twin studies
2
Q
Name two genes assoc with breast cancer and their penetrance rate
A
BRCA1, BRCA2
65%, 45%
3
Q
What are BRCA 1/2 associated with
A
Breast cancer mainly but also ovarian cancer
4
Q
What are the rare, high risk genes for Alzheimer’s disease
A
APP, PSEN 1, PSEN 2
Young onset AD
5
Q
What are the moderate risk genes for Alzheimer’s disease
A
APOE allele e4, rare variants in TREM2
6
Q
Describe the alleles in the APOE gene and how they are linked to AD
A
e4 = increased risk e3 = baseline risk e2 = decreased risk
e4/e4 combo gives the highest risk
7
Q
What are the common low risk genes for AD
A
SNPs in CLU, PICALM, CRU
8
Q
What is the p value used for GWAS
A
p < 5e-8
