PMID- 36728247 OWN - NLM STAT- MEDLINE DCOM- 20230920 LR - 20231003 IS - 1531-4995 (Electronic) IS - 0023-852X (Print) IS - 0023-852X (Linking) VI - 133 IP - 10 DP - 2023 Oct TI - Human Leukocyte Antigen Genotyping of Idiopathic Subglottic Stenosis. PG - 2533-2539 LID - 10.1002/lary.30580 [doi] AB - 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: NA, basic science Laryngoscope, 133:2533-2539, 2023. CI - (c) 2023 The American Laryngological, Rhinological and Otological Society, Inc. FAU - Rohlfing, Matthew L AU - Rohlfing ML AUID- ORCID: 0000-0002-8744-4098 AD - Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Hillel, Alexander T AU - Hillel AT AD - Department of Otolaryngology, Johns Hopkins University, Baltimore, Maryland, USA. FAU - Wohler, Elizabeth AU - Wohler E AD - McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA. FAU - Sobreira, Nara AU - Sobreira N AD - McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA. FAU - Phillips, Elizabeth J AU - Phillips EJ AD - Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Mallal, Simon A AU - Mallal SA AD - Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Gelbard, Alexander AU - Gelbard A AUID- ORCID: 0000-0003-0078-1305 AD - Department of Otolaryngology, Vanderbilt University Medical Center, Nashville, Tennessee, USA. LA - eng GR - R01 HL146401/HL/NHLBI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, Non-U.S. Gov't DEP - 20230202 PL - United States TA - Laryngoscope JT - The Laryngoscope JID - 8607378 SB - IM MH - Humans MH - Genotype MH - Constriction, Pathologic MH - *Laryngostenosis/genetics MH - Genetic Predisposition to Disease MH - Alleles MH - *Granulomatosis with Polyangiitis PMC - PMC10394115 MID - NIHMS1864693 OTO - NOTNLM OT - antineutrophil cytoplasmic antibody-associated vasculitis OT - granulomatosis with polyangiitis OT - human leukocyte antigen OT - idiopathic subglottic stenosis OT - tracheal stenosis COIS- Conflict of Interest Disclosures: None EDAT- 2023/02/03 06:00 MHDA- 2023/09/20 06:42 PMCR- 2024/10/01 CRDT- 2023/02/02 08:35 PHST- 2022/12/13 00:00 [revised] PHST- 2022/09/15 00:00 [received] PHST- 2023/01/02 00:00 [accepted] PHST- 2024/10/01 00:00 [pmc-release] PHST- 2023/09/20 06:42 [medline] PHST- 2023/02/03 06:00 [pubmed] PHST- 2023/02/02 08:35 [entrez] AID - 10.1002/lary.30580 [doi] PST - ppublish SO - Laryngoscope. 2023 Oct;133(10):2533-2539. doi: 10.1002/lary.30580. Epub 2023 Feb 2.