Asthma-associated genetic variants induce IL33 differential expression through an enhancer-blocking regulatory region.
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ABSTRACT:
SUBMITTER: Aneas I
PROVIDER: S-EPMC8531453 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Publications
Asthma-associated genetic variants induce IL33 differential expression through an enhancer-blocking regulatory region.
Aneas Ivy I Decker Donna C DC Howard Chanie L CL Sobreira Débora R DR Sakabe Noboru J NJ Blaine Kelly M KM Stein Michelle M MM Hrusch Cara L CL Montefiori Lindsey E LE Tena Juan J Magnaye Kevin M KM Clay Selene M SM Gern James E JE Jackson Daniel J DJ Altman Matthew C MC Naureckas Edward T ET Hogarth Douglas K DK White Steven R SR Gomez-Skarmeta Jose Luis JL Schoetler Nathan N Ober Carole C Sperling Anne I AI Nóbrega Marcelo A MA
Nature communications 20211021 1
Genome-wide association studies (GWAS) have implicated the IL33 locus in asthma, but the underlying mechanisms remain unclear. Here, we identify a 5 kb region within the GWAS-defined segment that acts as an enhancer-blocking element in vivo and in vitro. Chromatin conformation capture showed that this 5 kb region loops to the IL33 promoter, potentially regulating its expression. We show that the asthma-associated single nucleotide polymorphism (SNP) rs1888909, located within the 5 kb region, is ...[more]
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