Page 134 - ASHG 2012 Annual Meeting Program Guide

INVITED AND PLATFORM SESSIONS
123
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INVITED AND PLATFORM SESSIONS
Saturday, November 10
9:40
AM
–11:40
AM
Concurrent Invited Session III (73-80)
SESSION 80 – Selection Signatures and the Genetics
of Autoimmunity and Infectious Diseases
Room 130, Lower Level North, Moscone Center
Moderators
:
Judy H. Cho, Yale Univ.; Richard A.
Spritz, Univ. of Colorado Denver Anschutz Med.
Campus
The overlap of autoimmune and infectious disease loci
is one of the seminal findings of the GWAS era. The
presence of a relatively limited and recurring number
of major autoimmune and infectious disease-
associated genes and pathways may well correspond
with functional networks that evolved in response to
historically significant infectious pathogens. It may be
speculated that the plethora of common functional
polymorphisms identified through GWAS in
autoimmune diseases evolved through positive
selection; in subsequent eras and environmental
conditions, these once beneficial polymorphisms
confer increased susceptibility to autoimmunity.
Support for this concept is provided by the
observation that uncommon, often highly penetrant,
mutations in overlapping genes and pathways are
associated in infectious diseases such as severe
mycobacterial infections. Predictive functional
networks may be optimized by integration of
complementary data sources, notably selection
signatures. Novel approaches of identifying signatures
of positive selection at single and multiple loci will
require integration of genetic association data with
biologic data that optimally models relevant selection
conditions.
9:40
AM
Genetics and Autoimmunity.
J. H. Cho.
Yale Univ.
9.55
AM
The genetics of autoimmunity.
R. A.
Spritz. Univ. of Colorado Denver.
10:10
AM
Selection signatures and mechanisms of
host-microbe interactions.
P. Sabeti. Harvard Univ.
10:40
AM
Interactions of HLA class I with killer-cell
immunoglobulin-like receptors: Influences on
human disease.
P. Parham. Stanford Univ.
11:10
AM
Toward a genetic theory of infectious
diseases.
J.-L. Casanova. Rockefeller Univ.