multifactorial inheritance Flashcards
simple medelian trait
genetic variant leads to a trait
variable disease progression depends on
other factors besides just genetic variant
different alleles in the same gene associated with varying severity
complex traits explain
multifactoial ineritance.
Many things lead to trait
examples of multifactorial inheritance
- cancer
- type 1/2 diabetes
- alzheimers
- IBD
- schizophrenia
- cleft lip/palate
- hypertension
- asthma
complex traits/Multifactorial inheritance
- complex trait aggregates in family
- do not follow simple mendelian mode of inheritance
- need to distinguish between clustering in families due to genetic facts and those due to shared environmental facts.
- epidemiologic twin, adoption and immigration studies used
- each measure of genetic contribution need to be interpreted carefully, but as the group can provide compelling evidence fro genetic contribution to trait
twin studies: mono vs. dizygotic
mono: share 100% DNA
certain amount of environment
di: share 50% of DNA certain amount of environment
if twins raised together and assume same degree of similar environment, then difference in concordance rate between mono and di likely due to
genetic factors
If twins raised apart and assume had different environments then similarities in trait are likely due to
genetic factors
adoption studies
compare similarity btwn biologic siblings raised apart and adoptive siblings
If biological sib 2 more concordant with biological sibling than adopted sibling, then have evidence for _____ as opposed to _____
genetic component as opposed to environmental component
risk of disease in relatives
risk of disease in siblings of affected/ risk of disease in general population
heritability
h2
proportion of variance in trait that is due to genetic variation
low heritability
less than 50%
high heritability
more than 50%
characteristics of complex traits
- incomplete penetrance
- variable epxressivity
- heterogeneity –allele and locus
- presence of phenocopies
penetrance
relationship between trait and genotype
probability that an individual will develop the trait if they have the genotype