Gene Characterization

Suppose that we have identified a locus as a likely causal gene for the disease under study, a candidate gene. There are now a number of things we might wish to learn about that gene, including: whether in fact it is associated with the disease, after controlling for other risk factors such as ethni...

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Bibliographic Details
Published inStatistical Methods in Genetic Epidemiology
Main Author Thomas, Duncan C.
Format Book Chapter
LanguageEnglish
Published New York, NY Oxford University Press 29.01.2004
Oxford University Press, Incorporated
Subjects
Biomathematics and Statistics
Epidemiology & medical statistics
Molecular Biology and Genetics
Public Health
frequencies
polymorphisms
penetrance
function
population
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ISBN019515939X
9780195159394
DOI10.1093/oso/9780195159394.003.0011

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Summary:Suppose that we have identified a locus as a likely causal gene for the disease under study, a candidate gene. There are now a number of things we might wish to learn about that gene, including: whether in fact it is associated with the disease, after controlling for other risk factors such as ethnicity (see Chapter 9) the spectrum of mutations that occur among cases, as well as any neutral polymorphisms that occur no more commonly among cases than among the general population the biological effect of each mutation the genetic relative risks and dominance associated with each polymorphism the absolute age-specific penetrance function for each polymorphism the population allele frequencies for the different polymorphisms the molecular function of the gene
ISBN:019515939X
9780195159394
DOI:10.1093/oso/9780195159394.003.0011