What is it about?

This study searched the human genome for variants which may drive asthma risk. To this end, it capitalized on previous studies conducted in ethnically diverse populations. The findings confirm a prominent role of mechnisms related to the immune system in asthma rick. Here, a lot of the detected genetic variants are involved in immune responses to viruses or bacteria which hints towards the importance of infections in asthma risk.

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Why is it important?

This study doubles the sample sizes of previous efforts but replicates findings from the previous studies despite pooling data from ethincally diverse populations which may decrease statistical power to detect associations. Conversely, this pooling of diverse populations can also increase the statistical power to identify new genetic variants - a goal that was successfully met with this study. The newly identified genetic variants may provide new insights for future research and, subsequently, asthma prevention and therapy.


This has been an enormous effort driven by numerous colleagues who contributed data of their own studies for a common goal in a consortial manner. Since this study encompasses many of the worldwide accrued data on asthma genetics it is an unparalleled effort in research on asthma genetics. A decade has gone by since the identification of an asthma risk locus on chromosome 17q21 ((i) Moffatt MF et al. Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature 2007;448:470–473. and (ii) Moffatt MF et al. A large-scale, consortium-based genomewide association study of asthma. N Engl J Med 2010;363:1211–1221.). While the actions and implications of this genetic locus is yet not fully understood, future will tell us about the now again newly identified genetic variants.

PD Dr. med. Jon Genuneit
Universitat Leipzig

Read the Original

This page is a summary of: Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks, Nature Genetics, December 2017, Nature, DOI: 10.1038/s41588-017-0014-7.
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