Sunday, February 5, 2023

Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis

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Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis

Idiopathic subglottic stenosis is a rare disease with incompletely understood pathophysiology. This study investigated for association with human leukocyte antigen allele variations, which have important contributions to other airway disease including granulomatosis with polyangiitis. There was no specific HLA association identified for idiopathic subglottic stenosis.


Objective

Despite recent scientific inquiry, idiopathic subglottic stenosis (iSGS) remains an enigmatic disease. The consistent demographics of the affected population suggest genetic factors may contribute to disease susceptibility. Given the inflammation observed in the affected proximal airway mucosa, we interrogated disease association with human leukocyte antigen (HLA) polymorphisms. Polymorphisms in the HLA locus have previously been shown to influence individuals' susceptibility to distinct inflammatory diseases.

Methods

High-resolution HLA typing of 37 iSGS patients was compared with 1,242,890 healthy Caucasian controls of European ancestry from the USA National Marrow Donor Program and 281 patients with granulomatosis with polyangiitis (GPA).

Results

Complete HLA genotyping of an iSGS population showed no significant associations when compared to a North American Caucasian control population. Unlike GPA patients, iSGS was not associated with allele DPB1*04:01 nor did allele homozygosity correlate with disease severity.

Conclusions

There was not a detectable HLA association observed in iSGS. These results support the concept that iSGS possesses a distinct genetic architecture from GPA. If genetic susceptibility exists in iSGS, it likely lies outside the HLA locus.

Level of Evidence

N/A, basic science Laryngoscope, 2023

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