National asthma genetics consortium releases first results

A new national collaboration of asthma genetics researchers has revealed a novel gene associated with the disease in African-Americans, according to a new scientific report.

By pooling data from nine independent research groups looking for genes associated with asthma, the newly-created EVE Consortium identified a novel gene association specific to populations of African descent. In addition, the new study confirmed the significance of four gene associations recently reported by a European asthma genetics study.

The findings, published in Nature Genetics, are a promising first step for a new national scientific effort to hunt for the genetic roots of asthma.

"We now have a really good handle on at least five genes that anyone would be comfortable saying are asthma risk loci," said Carole Ober, PhD, co-chair of the EVE Consortium, senior author of the study, and Blum-Riese Professor of human genetics and obstetrics/gynecology at the University of Chicago. "I think it's an exciting time in asthma genetics."

"Asthma rates have been on the rise in recent years, with the greatest rise among African Americans," said Susan B. Shurin, M.D., acting director of the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health, which co-funded the study. "Understanding these genetic links is an important first step towards our goal of relieving the increased burden of asthma in this population."

Genome-wide association studies, or GWAS, are a popular method used by geneticists to find genetic variants associated with elevated risk for a particular disease. Genetic data from a group of patients with the target disease are compared to data from a control group without the disease, and researchers look for variants that appear significantly more often in the disease group.

But the ability, or power, of GWAS to find disease-associated variants is dependent on the number of participants enrolled in a study. To find variants involved in complex diseases, thousands of participants may be necessary – a logistical and financial demand often beyond the capacity of an individual research team.

"It has become clear to geneticists studying nearly every common disease that GWAS are often under-powered, and unless you pull together many researchers doing the same thing you're just not going to have the power to find genes," said Dan Nicolae, PhD, associate professor of medicine, statistics, and human genetics at University of Chicago, co-chair of the consortium and another senior author of the study. "That was the motivation for nine groups of investigators coming together to form EVE."

Spurred by support from the NHLBI and the National Institutes of Health, research groups from the nine institutions discussed pooling their GWAS data to create a larger, shared dataset. But it wasn't until they received a $5.6 million grant from the American Recovery and Reinvestment Act of 2009 that the EVE Consortium could officially form and hire the necessary personnel to execute the collaboration.