9. Multifactorial diseases (not on midterm)

Question 1

Lambda R

Answer 1

Frequency of a disease among relatives/frequency of the disease in the entire population

Question 2

Lambda S

Answer 2

Frequency of the disease among siblings/frequency of the disease in the entire population

Question 3

How to investigate environmental factors contributing to disease?

Answer 3

Studied on adopted children:

1. Strong concordance with biological parents -> genetic background of disease
2. Strong concordance with adopting parents -> Environmental factors play a role

Question 4

Environmental factors believed to be contributing in development of DM type 1

Answer 4

• Enteroviruses
• Lack of breast feeding, early exposure to cow milk
• Dec. vitamin D uptake
• Aberrant gut microbiome
• Dec. symbiote exposure

Question 5

Environmental factors in DM type 2

Answer 5

• Low exercise
• Soda with added sugar
• Smoking
• Social environment
• Stress
• High fat diet

Question 6

Frequency of monogenic disorders compared to multifactorial diseases

Answer 6

Multifactorial diseases 20x more frequent

Question 7

Thrifty gene hypothesis

Answer 7

The gene enable individuals to efficiently collect and process food to deposit fat during periods of food abundance

Question 8

What is antagonistic pleiotropy?

Answer 8

Variants which are advantageous in younger age but harmful in older age

Question 9

APOE gene

Answer 9

• Increased susceptibility to Alzheimer and CAD
• 3.2 year shorter life expectancy
• In early life: Protects against infectious diseases

Question 10

TLR4 Asp299Gly

Answer 10

Variant associated with a waker immune response to G- bacteria