Q2-FUN14/Genetics of Common and Complex Disease Flashcards
A rare disease is a disease with an incidence of less then 1/__________
2000
rare diseases are often, but not always, governed by ______ gene/locus
a single
a rare disease is often ______ and _________
chronic, life threatening
a rare diesease is often _______ onset and affects _______
early, children
it is estimated that ____ to _____ rare diseases exist
5K-7K
___-___% of the population is affected by a rare disease
6 - 8
A common diesease is ______ or _______ in nature
polygenic, multifactorial
Are common dieseases chronic?
they can be
When are common diseases early or later in life?
onset of common disease is usually later in life
What does monogenic/mendelian mean?
Presence or absence of phenotype depends on genotype at a single locus
What does polygenic mean?
Presence or absence of phenotype depends on genotypes across several loci
(but all risk is attributable to genes)
What does multifactorial mean?
Presence or absence of phenotype depends on interaction of genes and environment
what is the biological complexity of common and rare diseases?
common ones are complex and rare ones are relatively simple
What is The Genome Wide Association Study?
What does the GWAS study do with regards to statistical analysis?
determine the frequency of each SNP in cases and then in controls… test if there is a significant difference
What is the P-value?
P-value = a measure of statistical significance, the probability of that result occurring by chance.
– P = 0.05 means 1/20 chance of that result occurring by chance.
– Need to apply a significance threshold for your study, which is determined by the number of independent tests you intend to run
– For GWAS, approximately one million independenttests
– Therefore, P value threshold = 0.00000005 (5x10-8)
What is the Odds ratio?
Look at the 3 case studies on this lecture.
_____________ in the human genome have been associated with common disease and complex traits
thousands of loci
_______ genetic risk factors have been studied via GWAS
common
________ are very small (OR<1.2) for the most part
effect sizes
the ability to predict individuals at risk of developing disease is _________
very modest
The loci identified in GWAS has pointed to ________ for the development of novel treatments
new biological targets
Why do more than half of clinical trials fail?
the lack of efficacy of the drug
