Gene - Function - Clinic

Question 1

What is CYP2D6?

Answer 1

A member of the P450 cytochrome oxidase enzyme family?

Question 2

Why is CYP2D6 clinically relevant?

Answer 2

Highly polymorphic cytochrome 450 family member

Metabolises 25% of drugs

6-10% of Caucasians are non-metabolisers (no active CYP2D6)

7% of Caucasians are ultra-rapid metabolisers (multiple copies of CYP2D6)

CYP2D6 rate limiting step converting tamoxifen to its active metabolite endoxifen

Poor metabolizers due to CYP2D6 polymorphisms are associated with worse survival

Question 3

What is the heritibility of obesity?

Answer 3

70-80% according to twin studies