Tag Archives: exome

An update on the asthma exome

Here is an  interim update on some genes of my recent asthma exome paper coming now from 1 M  exomes published yesterday in a preprint.

loss of function variants IL1RL1. https://rgc-mcps.regeneron.com/gene/IL1RL1, 12 May 2023

Also ClinVar shows that the IL33 receptor is not “essential” making anti IL33 receptor antibodies like etokimab, itepekimab, tozorakimab a safe therapy although not being effective in the many LOF mutation carriers.

The most interesting thing in the preprint is in supplemental table 2 with all the s-het values for 16,704 genes. From that table  I have selected  my favorite target  IL33 receptor together with TLR1, ALOX15, GSDMA, IL13 and IKZF3. Only BTNL2 could not be found.

asthma exome  https://rgc-mcps.regeneron.com/gene/IL1RL1, 12 May 2023

IKZF3 would be dangerous to be touched (see my 2008 commentary) while in the 2022 exome paper I  found only protective variants in the 5′-UTR but not any LOF variant  in IKZF3- probably as it is the only essential gene when looking at 1 M exomes.