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A large-scale genome study uncovered IL31 as a key genetic contributor to prurigo nodularis, linking it to immune-regulatory pathways and ethnic variation.
A study published in July 2025 issue of Journal of Allergy and Clinical Immunology emphasized the limited understanding of specific genetic variants associated with prurigo nodularis (PN), despite evidence linking genetic risk factors to its development.
Researchers aimed to identify genetic variants linked to increased susceptibility to PN using a genome-wide association study.
They pooled data from 5 cohorts, including 4,239 PN cases and 5,83,544 controls, and performed a genome-wide association study (GWAS) meta-analysis. The findings were validated using the Michigan Genomics Initiative. Data from regulatory regions and expression quantitative trait loci (eQTLs) were analyzed to explore underlying genetic mechanisms.
The results showed a genome-wide significant association for PN at the IL31 locus with a P-value of [P=7.5×10-13] and an odds ratio of [OR=1.17], 2 additional suggestive signals were identified on chromosome 2 and 6 with P-values of [P≤1×10-6]. The IL31 variant was located in a regulatory region active in T-cells and keratinocytes and was notably more common in individuals of European ancestry.
Investigators concluded that genetic factors played a significant role in PN and helped clarify its connection to other pruritic inflammatory skin conditions.
Source: jacionline.org/article/S0091-6749(25)00742-0/abstract