Statistical test increases power of genetic studies of complex disease

May 7, 2014

The power of genome-wide association studies (GWAS) to detect genetic influences on human disease can be substantially increased using a statistical testing framework reported in the May issue of the journal Genetics.

Despite the proliferation of GWAS, the associations found so far have largely failed to account for the known effects of genes on complex disease—the problem of "missing heritability." Standard approaches also struggle to find combinations of multiple genes that affect disease risk in complex ways (known as genetic interactions).

The new framework enhances the ability to detect genetic associations and interactions by taking advantage of data from other genomic studies of the same population. Such information is increasingly abundant for many human populations.

The authors demonstrated that their method improves performance over standard approaches. They also re-examined real GWAS data to find promising new candidates for genetic interactions that affect bipolar disorder, , Crohn's disease, and rheumatoid arthritis.

"We think practically everyone who's ever done a case-control GWAS could benefit from reanalyzing their data in this way," said author Saharon Rosset, associate professor of statistics at Tel Aviv University.

"This paper offers a significant advance in mapping genes involved in disease. The approach makes use of available data to substantially improve the ability to identify genetic components of disease," said Mark Johnston, Editor-in-Chief of the journal Genetics.

Explore further: Gene combinations and interactions affect risk of Crohn's disease

More information: S. Kaufman and S. Rosset. Exploiting Population Samples to Enhance Genome-Wide Association Studies of Disease. Genetics May 2014 197:337-349 DOI: 10.1534/genetics.114.162511 Available online May 7, 2014.

Related Stories

Recommended for you

New class of RNA tumor suppressors identified

November 23, 2015

A pair of RNA molecules originally thought to be no more than cellular housekeepers are deleted in over a quarter of common human cancers, according to researchers at the Stanford University School of Medicine. Breast cancer ...

Batten disease may benefit from gene therapy

November 11, 2015

In a study of dogs, scientists showed that a new way to deliver replacement genes may be effective at slowing the development of childhood Batten disease, a rare and fatal neurological disorder. The key may be to inject viruses ...

Molecular clocks control mutation rate in human cells

November 9, 2015

Every cell in the human body contains a copy of the human genome. Through the course of a lifetime all cells are thought to acquire mutations in their genomes. Some of the mutational processes generating these mutations do ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.