Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

First large-scale PheWAS study using EMRs provides systematic method to discover new disease association

26.11.2013
Vanderbilt University Medical Center researchers and co-authors from four other U.S. institutions from the Electronic Medical Records and Genomics (eMERGE) Network are repurposing genetic data and electronic medical records to perform the first large-scale phenome-wide association study (PheWAS), released today in Nature Biotechnology.

Traditional genetic studies start with one phenotype and look at one or many genotypes, PheWAS does the inverse by looking at many diseases for one genetic variant or genotype.

"This study broadly shows that we can take decades of off-the-shelf electronic medical record data, link them to DNA, and quickly validate known associations across hundreds of previous studies," said lead author Josh Denny, M.D., M.S., Vanderbilt Associate Professor of Biomedical Informatics and Medicine. "And, at the same time, we can discover many new associations.

"A third important finding is that our method does not select any particular disease - it is searches simultaneously for more than a thousand diseases that bring one to the doctor. By doing this, we were able to show some genes that are associated several diseases or traits, while others are not," he added.

Researchers used genotype data from 13,835 individuals of European descent, exhibiting 1,358 diseases collectively. The team then ran PheWAS on 3,144 single-nucleotide polymorphisms (SNP's), checking each SNP's association with each of the 1,358 disease phenotypes.

As a result, study authors reported 63 previously unknown SNP-disease associations, the strongest of which related to skin diseases.

"The key result is that the method works," Denny said. "This is a robust test of PheWAS across all domains of disease, showing that you can see all types of phenotypes in the electronic medical record — cancers, diabetes, heart diseases, brain diseases, etc. — and replicate what's known about their associations with various SNPs."

An online PheWAS catalog spawned by the study may help investigators understand the influence of many common genetic variants on human conditions.

"If you think about the way genetic research has been done for the last 50 years or more, a lot of it was done through carefully planned clinical trials or observational cohorts," Denny said. "This certainly does not supplant those in any way but provides a cost efficient, systematic method to look at many different diseases over time in a way that you really can't do easily with an observational cohort."

Denny said PheWAS would be unworkable without the eMERGE Network, which has now expanded to nine sites with DNA samples from about 51,000 individuals linked to medical records. Vanderbilt is the coordinating center for eMERGE. The eMERGE Network is funded by the National Human Genome Research Institute.

"PheWAS opens up important avenues in understanding why certain diseases can present differently in different people, or how drugs might produce unpredicted effects in some patients," said senior author Dan Roden, M.D., assistant vice chancellor for Personalized Medicine, and principal investigator for the Vanderbilt eMERGE site.

The research was supported by National Institutes of Health grants HG004610, HG006375, HG004608, HG04599, HG06379, HG004609, HG006388, HG006389, HG04603, HG006378, HG006385, HG004424, HG004438, GM092318, LM010685, RR024975, TR000445 and TR000427.

Craig Boerner | EurekAlert!
Further information:
http://www.vanderbilt.edu

More articles from Studies and Analyses:

nachricht Real-time feedback helps save energy and water
08.02.2017 | Otto-Friedrich-Universität Bamberg

nachricht The Great Unknown: Risk-Taking Behavior in Adolescents
19.01.2017 | Max-Planck-Institut für Bildungsforschung

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Safe glide at total engine failure with ELA-inside

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded after a glide flight with an Airbus A320 in ditching on the Hudson River. All 155 people on board were saved.

On January 15, 2009, Chesley B. Sullenberger was celebrated world-wide: after the two engines had failed due to bird strike, he and his flight crew succeeded...

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

New pop-up strategy inspired by cuts, not folds

27.02.2017 | Materials Sciences

Sandia uses confined nanoparticles to improve hydrogen storage materials performance

27.02.2017 | Interdisciplinary Research

Decoding the genome's cryptic language

27.02.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>