Carole Ober of the University of Chicago, who co-leads the EVE consortium, said the findings confirm the significance of four genes identified in a large European asthma genetics study published last year called GABRIEL, offering strong evidence that these genes are important across ethnic groups.
But because the study was so large and ethnically diverse — including data on European Americans, African Americans, African Caribbeans and Latinos — it enabled the researchers to find this new gene variant that exists only in African Americans and African Caribbeans.
This new variant, located in a gene called PYHIN1, is part of a family of genes linked with the body’s response to viral infections, Ober said.
“We were very excited when we realized it doesn’t exist in Europe,” she said.
The team stressed that each gene variant on its own plays only a small role in increasing asthma risk, but that risk could be multiplied when combined with other risk genes and with environmental factors, such as smoking, that also increase asthma risk.
“It’s been extraordinarily challenging to try to find variation in genes that are associated with risk for developing asthma that can be replicated among populations. It’s a very complex disease with a lot of genes and a lot of environmental factors influencing risk,” Ober said.
The findings now give researchers new areas to explore in understanding the interplay of genetics and the environment in asthma risk, and may lead to better treatments.
“What you see here in this paper is only the beginning,” Nicolae said.