September 01, 2011
1 min read

Consortium identifies asthma gene in certain ethnicities

MCAAS. Nat Genet. 2011;doi:10.1038/ng.888.

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

“We now have a good handle on at least five genes that anyone would be comfortable saying are asthma risk loci,” Carole Ober, PhD, co-chair of the EVE Consortium, said in a press release. “It’s an exciting time in asthma genetics.”

Besides increased power to find variants associated with asthma risk, the EVE dataset comprised a more ethnically diverse population than similar efforts in other countries by including European Americans, African Americans/African Caribbeans and Latinos.

“We believe that this heterogeneity is important,” Ober said. “There are differences in asthma prevalence in these three groups, so it’s important to understand whether these are caused by environmental exposures or by differences in genetic risk factors.”

The diverse sample enabled the researchers to discover a novel genetic association with asthma observed exclusively in African Americans and African Caribbeans. The polymorphism, located in a gene called PYHIN1, was not present in European Americans and may be the first asthma susceptibility gene variant specific to populations of African descent.

Four more gene variants were found significant for asthma risk by the meta-analysis: the 17q21 locus, and IL1RL1, TSLP and IL33 genes. All four of these sites were concurrently identified in a separate dataset by the GABRIEL Study of more than 40,000 European asthma cases published last year in The New England Journal of Medicine. Confirming these associations in the more diverse EVE population offers additional evidence that the gene variants are significant across ethnicities, the researchers reported.

“We were able to show that almost all of the genes other than PYHIN1 are trans-ethnic and important in all of the groups,” Ober said.

The researchers are conducting a meta-analysis looking at a longer list of gene variants, and individual groups within the consortium are using the pooled dataset to answer additional questions. Topics of interest include gene-environment interactions, genetic associations with asthma-associated phenotypes such as allergies and lung function, and the role of tissue-specific gene expression.

Disclosure: The National Heart, Lung, and Blood Institute of the NIH co-funded the study.

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