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| Genetic
Immunization Workshop |
Online
Education Module:
Large-Scale
Population Studies Using Genetic Polymorphisms
Presenter:
Jonathan C. Cohen
Description:
Family and twin studies have provided considerable evidence that
coronary atherosclerosis is heritable, but the genetic architecture
underlying this condition remains poorly understood.
Currently, there
are two models for the genetic architecture of heart disease:
1) The common
disease, common variant model and
2) an alternative, not necessarily exclusive model, disease susceptibility
is conferred by rare variants.
We have examined
both of these models in two large-scale studies. The Dallas Heart
Study (DHS) is a large population-based study of Dallas county residents.
This study has provided extensive phenotype data on a variety of
traits related to coronary atherosclerosis. We have coupled this
study with the Southwestern Program for Genomic Applications (PGA)
which has provided high throughput genotyping on all participants
in the DHS. At the intersection of theses two, we have taken data
from both studies to perform genetic association studies.
Some of the
major conclusions from this work are:
- Large-scale
studies generate many false-positive associations
- Very low
P-values will eliminate true associations
- Replication
is critical to validation of genetic associations
- Optimal
strategy: Use nominal P-value for initial screen and validate
by replication
- Reliability
of high-throughput genotyping assays should be carefully examined
- Large-scale
sequencing in targeted populations may reveal mutations with large
phenotypic effects that are common in aggregate
There
are two parts to this online education module:
1.
The PowerPoint Presentation
- For
PC: Online PowerPoint
Presentation with audio
- For
Mac: Online PowerPoint
Presentation with audio
- For
download: PowerPoint file
2.
Live, Online WebEx Forum (date and details to be
announced)
This format
provides an opportunity to discuss details of the presentation
in-depth with the presenter and other participants. It also
provides a forum to address additional areas of interest related
to large-scale population studies using genetic polymorphisms.
Email
questions and areas of interest you would like addressed during
the forum to: kim.hoggatt@utsouthwestern.edu
Email any questions
or comments to: kim.hoggatt@utsouthwestern.edu |
