Complex disease genetics Flashcards

1
Q

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

A

family or twin studies

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2
Q

Name two genes assoc with breast cancer and their penetrance rate

A

BRCA1, BRCA2

65%, 45%

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3
Q

What are BRCA 1/2 associated with

A

Breast cancer mainly but also ovarian cancer

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4
Q

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

A

APP, PSEN 1, PSEN 2

Young onset AD

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5
Q

What are the moderate risk genes for Alzheimer’s disease

A

APOE allele e4, rare variants in TREM2

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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

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7
Q

What are the common low risk genes for AD

A

SNPs in CLU, PICALM, CRU

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8
Q

What is the p value used for GWAS

A

p < 5e-8

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