Comuzzie, Anthony Gean

English

PubMed

Anthony Gean Comuzzie

Frontiers - Publisher Connector

A Grand Challenge for Applied Genetic Epidemiology: Putting the Human Genome in Context

Crossref

Frontiers in Genetics

Directory of Open Access Journals

A Grand Challenge for Applied Genetic Epidemiology: Putting the Human Genome in Context.

www.frontiersin.org March 2011 | Volume 2 | Article 10 | 1
Specialty Grand challenGe article
published: 03 March 2011
doi: 10.3389/fgene.2011.00010
A grand challenge for applied genetic epidemiology: putting 
the human genome in context
Anthony Gean Comuzzie*
Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA
*Correspondence: tony@sfbrgenetics.org
The last two decades witnessed rapid and 
profound expansion in the field of human 
genetics, driven in large part by the comple-
tion of the Human Genome Project. While 
the Human Genome Project achieved its 
goal of mapping the physical location of 
the approximately 20,000 to 25,000 genes 
that make up our genome, it has left open 
the most challenging biological question – 
“How do these genes impact who we are?” 
As a result, the role of genetic epidemiol-
ogy is to take the information gained from 
the Human Genome Project and combine 
it with carefully characterized phenotypic 
data from well defined populations to iden-
tify not only which genes impact everything 
from physical appearance, to behavior, to 
disease susceptibility, but how they interact 
with the environment.
Not only did the completion of the 
Human Genome project provide us with 
information regarding the basic architec-
ture of our genome, it also gave rise to 
impressive advances in molecular technolo-
gies which now make it possible to employ 
high resolution methods for the assessment 
of genetic variation at a population level in 
a high through-put and cost–effective man-
ner. By example it is now routine to assess 
over a million single nucleotide polymor-
phisms (SNPs) on thousands of individuals 
within a single study, and then combining 
them into meta-analyses with hundreds of 
thousands of individuals. Beyond simply 
examining nucleotide variation, it is now 
feasible to assess other aspects of genomic 
variation including whole transcriptome 
profiling, genome-wide epigenetic modi-
fications, and a burgeoning capacity for 
whole genome sequencing on an individ-
ual basis. Consequently, a major challenge 
now facing the field of genetic epidemiol-
ogy is how to apply this rapidly expand-
ing plethora of genetic data in meaningful 
ways that will further our understanding of 
human biology.
Currently much of the effort in genetic 
epidemiology is still largely focused on 
attempting to identify which genes influ-
ence which phenotypes, largely through 
genome-wide efforts employing either 
case/control study designs utilizing associa-
tion methods with a few investigators still 
using linkage approaches. While the iden-
tification of the key genes involved in the 
expression of a phenotype, particularly for 
those involved in mediating disease risk, is 
an important endeavor, it only represents a 
first step. It is highly doubtful that any gene 
will exert its effects completely in isolation, 
but rather will have its action modulated 
by a wide range of other genetic and also 
environmental factors. The identification of 
such environmental factors and the deci-
phering of how they impact the action of 
genes is a fundamental objective of genetic 
epidemiological analyses. Therefore, as the 
diversity, as well as shear amount, of genetic 
information continues to accumulate, the 
thoughtful definition, and quantification of 
key environmental factors must also keep 
pace if we are to truly understand how the 
critical interaction between genes and envi-
ronment give rise to the phenotypic varia-
tion we observe at the population level.
The field of genetic epidemiology holds 
a critical position within human genet-
ics as it provides a key component of 
the epistemological framework by which 
we attempt to put the human genome 
into a meaningful biological context. 
Therefore, the grand challenge for the 
field of genetic epidemiology will be to 
move beyond simple gene identification 
to include how identified genes interact 
with the environment in which these 
genes find themselves, as well as how to 
make creative and insightful use of the 
vast wealth of genomic data which is now 
being produced, and all done in an effort 
to understand the connection between 
the genes and their physical manifesta-
tion in the individual. It will be the goal of 
Frontiers in Applied Genetic Epidemiology 
to provide a forum for the presentation 
of creative research seeking to further our 
understanding of not only how genomic 
variation, assessed by multiple methods, 
impact phenotypic expression, but how 
genes interact with the environment to 
give rise to the patterns of variation and 
complexity we observe at the population 
level. We are eager to meet this challenge 
in our own work and welcome all those 
who wish to join us in this important 
scientific endeavor.
Received: 17 February 2011; accepted: 17 February 2011; 
published online: 03 March 2011.
Citation: Comuzzie AG (2011) A grand challenge for 
applied genetic epidemiology: putting the human genome in 
context. Front. Gene. 2:10. doi: 10.3389/fgene.2011.00010
This article was submitted to Frontiers in Applied Genetic 
Epidemiology, a specialty of Frontiers in Genetics.
Copyright © 2011 Comuzzie. This is an open-access arti-
cle subject to an exclusive license agreement between the 
authors and Frontiers Media SA, which permits unrestricted 
use, distribution, and reproduction in any medium, pro-
vided the original authors and source are credited.


http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3268569

A Grand Challenge for Applied Genetic Epidemiology: Putting the Human Genome in Context

Abstract

Similar works

Full text

Available Versions

Frontiers - Publisher Connector

Crossref

Directory of Open Access Journals

Frontiers - Publisher Connector