Researchers have identified three previously unknown genes — PTPRE, FZD7, and SASH1 — linked to allergic asthma in children and adults through a meta-analysis of four studies, potentially opening new avenues for prevention and treatment strategies.
- Three novel genes discovered: PTPRE and FZD7 were linked to adult-onset allergic asthma, while SASH1 was linked to childhood-onset allergic asthma
- Key finding: Asthma is a heterogeneous disease with distinct phenotypes; analyzing separate forms uncovered genetic associations missed in broader studies
- Study participants: 44% had asthma, 44% had allergies, and 26% had adult-onset asthma, allowing researchers to account for disease presentation differences
Scientists have identified three previously unrecognized genes linked to childhood and adult allergic asthma that they said support the biological mechanisms underlying the disease. The discovery, which was outlined in the paper, “A Meta-Analysis of Four Studies Identified Three New Genes Associated With Allergic Asthma,” and published in Nature, opens the door to future prevention and treatment strategies.
The findings emerged from a meta-analysis of four independent epidemiological studies examining genetic pathways related to inflammation. Researchers focused on the role of interleukin 6 (IL-6), a key inflammatory cytokine long suspected to play a role in asthma development. They analyzed 1,323 IL-6-related genes among 3,435 participants of European ancestry from four separate population studies.
The analysis included participants with a spectrum of asthma and allergy profiles, which allowed researchers to account for important differences in disease presentation, including allergic status and age of asthma onset. Among the participants, 44% had asthma, 44% had allergies and 26% had adult-onset asthma.
Researchers leveraged pathway-based genetic analyses and meta-analyses across the studies and discovered gene variants associated with specific forms of allergic asthma. Variants in PTPRE and FZD7 were linked to adult-onset allergic asthma, while variants in IL33 and SASH1 were linked to childhood-onset allergic asthma.
Of the four, the study identified PTPRE, FZD7 and SASH1 as novel asthma-associated genes that had not been detected through conventional genome-wide association study (GWAS) approaches. According to the paper’s authors, these genes are responsible for certain biological processes related to asthma development and inflammatory responses.
Researchers said their findings highlight the importance of looking at asthma as a heterogeneous disease rather than a single condition. By analyzing distinct asthma phenotypes separately, investigators said they were able to uncover genetic associations that may have been missed in broader analyses.
Although the discovery gives hope to the advent of new asthma therapies, researchers said additional studies are necessary to validate the findings across more diverse populations and determine how these genetic pathways can be leveraged to improve patient outcomes.
