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Updated: Sep 15, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
IL31 identified as a key genetic risk factor for prurigo nodularis
Matthew T Patrick1, Yuntian Wu2, Xue Zhong3
1Department of Dermatology, University of Michigan Medical School, Ann Arbor, Mich.
Background:
Although previous studies have suggested that genetic risk factors can contribute to the development of prurigo nodularis (PN), little is known about the specific variants involved.
Objective:
We aimed to test which genetic variants increase predisposition to PN by conducting a large genome-wide association study.
Methods:
Five separate cohorts (4239 case patients with PN and 583,544 controls) were combined through genome-wide association study meta-analysis, and the results were validated by using the Michigan Genomics Initiative. Data from regulatory regions and expression quantitative trait loci were applied to investigate genetic mechanisms.
Results:
We identified a genome-wide significant genetic signal for PN (P = 7.5 × 10-13; odds ratio = 1.17) at the IL31 locus, which has also been associated with psoriasis, atopic dermatitis, and 2 suggestive significant signals (P ≤ 1 × 10-6) in chromosomes 2 and 6. The IL31 signal is located in a regulatory region for T cells and keratinocytes; interestingly, it occurs substantially more frequently in European individuals than in African individuals.
Conclusion:
Our results reinforce the role of genetics in PN and advance understanding of the mechanisms and their relationship with other pruritic inflammatory skin diseases.
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