IL13RA1 – Asthma

In a comprehensive genetic investigation, polymorphisms in IL13RA1 were examined for their association with asthma. One study screened the promoter and coding regions in 341 asthmatic families (PMID:17392323) and identified common variants, including a non‐coding polymorphism, c.*81A>G (p.=). However, no statistically significant association was observed with asthma or atopy overall, with only a suggestive correlation between a specific haplotype and elevated serum immunoglobulin E levels in adult female asthmatics. These findings indicate that although IL13RA1 is biologically plausible given its role in IL‑13 signaling, the genetic evidence remains modest.

A subsequent case‑control study involving 299 asthmatic subjects and 992 controls (PMID:19796199) assessed multiple IL13 pathway gene variants, yet IL13RA1 variants did not consistently correlate with asthma susceptibility. Only a nominal association of one IL13RA1 SNP (rs2250747) was observed in females with chronic obstructive pulmonary disease, an observation that does not translate robustly to asthma. In the absence of targeted functional assays directly evaluating IL13RA1’s pathogenic role in asthma, the overall experimental support is limited. Key take‑home sentence: IL13RA1 variants currently exhibit limited evidence as contributors to asthma risk, underscoring the need for further segregation analyses and functional validation to establish clinical utility.

References

• The European Respiratory Journal • 2007 • Genetic association studies of interleukin-13 receptor alpha1 subunit gene polymorphisms in asthma and atopy PMID:17392323
• Allergy • 2010 • Polymorphisms in IL13 pathway genes in asthma and chronic obstructive pulmonary disease PMID:19796199

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