IL27RA – Asthma

The association between IL27RA (HGNC:17290) and asthma (MONDO_0004979) has been explored through whole‐genome sequencing in a founder population. In a targeted sequencing study of 837 cases and 540 controls (PMID:25116239), a significantly higher burden of mutations—specifically 19 nonsense or splice-site variants (PMID:25116239)—was observed in controls compared to cases. These findings suggest that IL27RA variants may modulate asthma susceptibility, potentially in a protective manner. The study, derived from an extended Hutterite pedigree, provided an opportunity to identify low-frequency variants in a genetically homogeneous setting. However, the lack of familial segregation data and independent replication means that the overall evidence remains modest.

Genetic evidence is based solely on case–control burden analysis without supportive functional studies directly linking IL27RA to asthma pathogenesis. While the identification of loss-of-function variants in IL27RA suggests a possible role in modifying disease risk, there is no experimental data to establish the molecular mechanism of pathogenicity. As a result, the collective interpretation of the clinical and genetic evidence results in a limited level of confidence in this association. Key take‑home sentence: IL27RA shows a potential but currently limited role in modulating asthma risk, warranting further experimental and replication studies to validate its clinical utility.

References

• PloS one • 2014 • Whole‑genome sequencing of individuals from a founder population identifies candidate genes for asthma PMID:25116239

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