Roles of genetic and environmental factors in disease causation Flashcards
Why disease does not develop in everybody exposed to an environment risk factor?
Humans differ from one another and some people will be more susceptible to a disease than others because of their genetic makeup
Genetic markers
a genetic marker is a gene , DNA sequence or gene product that is associated with a specific condition or risk of obtaining a specific condition that can be tested for in a lab
Methods used to test for and evaluate genetic markers
Microarrays: examine level of expression of a large no. of genes simultaneously and not just what genes are present in and individual. Overexpression or no expression may contribute to disease
HLA (human leukocyte antigen)
Age of onset of disease
When a disease occurs both genetic and non genetic forms, the genetic form tends to develop in patients at a much earlier age than the non-genetic form. This is because non genetic diseases require a build-up of environmental exposures over time and therefore diseases take longer to develop .
Family studies
Certain diseases run in certain families and may be a result of genetic or environmental factors
Family pedigree
sheds light on how a disease is passed from generation to generation.
And can be used to estimate influence of genetic traits on the cause of disease
Spousal concordance
Both husband and wife have disease
environmental factors are most likely the cause
Types of twins
Monozygotic ( identical) twins- come from the same fertilized ovum therefore genetically identical
dizygotic (fraternal)twins- come from two separate ova and are the same as ordinary siblings that happen to develop in the uterus at the same time
Occurrence of disease in the different types of twins
Monozygotic twins- both may have or neither may have disease (concordant of the disease) or only one twin may have the disease while the other doesn’t (discordant)
If disease is genetic we would expect less concordance for dizygotic twins than for monozygotic twins
Big problem when working with twin concordance
Publication bias- it is more likely that a researcher will publish data when both twins have a rare disease than if they observe only one twin with a disease
Adoption studies
Monozygotic twins normally grew up in the same environment. This makes it difficult to determine what contribution the environment and genetic factors made.
To determine whether disease is primarily genetic or environmental in origin.
Migrants are studied the same way as
Adoptees
If no. of cases of a disease increase or decrease significantly over time then it can be assumed that?
Environmental factors are most likely the cause of the disease. This is because the overall genetic characteristics of the human population do not typically change over short periods.