A rare loss-of-function mutation reduces blood eosinophil counts and protects from asthma

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Only a few genes have been found to play a role in asthma. These include the genes IL33 and IL1RL1, and sequence variants in the human genome close to these genes were initially found to affect the number of eosinophils, cells that play a role in inflammation of the airways in asthma. Based on this knowledge, we decided to use high resolution sequencing technology to search for variants in these genes that cause changes in structure and function of the proteins they encode. We found a rare (0.65%) sequence variant in the IL33 gene, that causes less production of the IL33 protein and some of the protein formed lacks the capacity to bind to its receptor on cells and promote inflammation. This rare mutation causes reduced number of eosinophils in blood and protects against asthma. These results suggest that drugs that could interfere with the inflammatory activity of the IL33 protein may be beneficial for treatment of asthma.

Vyšlo v časopise: A rare loss-of-function mutation reduces blood eosinophil counts and protects from asthma. PLoS Genet 13(3): e32767. doi:10.1371/journal.pgen.1006659
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1006659

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