In a recent article published on May 2, 2025 by the Physician's Weekly, states that researchers found significant differences in genes potentially linked to adult-onset asthma and childhood-onset asthma with an overlap between the two. After combining experiment and computational approaches to reanalyze genome-wide association study (GWAS) for data on AOA and COA the researchers ended up discovering hundreds of genetic variants with a high likelihood of having a causal effect on both types of asthma. The researcher team applied a fine mapping of a statistical technique with asthma, in order to summarize statistics found from the UK Biobank. It was explained that the GWAS association provides sets of variants associated with the disease in order to perform the research. So when the variants overlap with chromatin regions in cell types that are relevant to asthma pathogenesis like lung epithelial cells can potentially cause casualties to the asthma phenotypes. The researcher were able to incorporate data on expression quantitative trait loci, which is a genetic variant associated with differences in the gene expression and chromatin interactions from blood and lung cell types to link the fine mapped variants to their target genes Therefore refining the list to the likelihood of casual genes. After doing so the fine mapped analysis revealed 21 credible sets of variants for AOA and 67 for COA with just a 16% of sets shared by the both. Once the researchers searched the loci for cis-regulatory elements linked to asthma they were able to nominate 62 candidate genes for AOA and 169 for COA which was more than 60% of which exhibited open chromatin in multiple cell lineages, that could include many genes that would've involved immune and inflammatory responses. They were able to confirm regulatory effect, and that six of these candidate elements were tested in brachial epithelial cells by using luciferase reporter assays. According to the study, four of them showed allele specific activity consistent with the asthma risk variant which would then narrow the function gap.
As someone with a nephew who struggles with asthma, I really liked reading this post. Knowing that researchers are digging this deep into the genetic roots of asthma gives me hope that people might have better, more tailored treatments in the future. The fact that they can now pinpoint specific genes and understand how they behave in the body is amazing.
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