全基因组测序揭示声门下狭窄中特定微生物群：痤疮丙酸杆菌可能促进炎症

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中文摘要

目的： 声门下狭窄（SGS）使声带下方的气道逐渐变窄。其病因尚不明确，且患者反复需要手术治疗。包括所有表型在内，SGS的发病率为每年1/400 000，以女性为主。既往研究已揭示分枝杆菌复合群可能在SGS发生中起作用。我们的假设是微生物群与SGS中的炎症相关，若属实，则可能影响现行的治疗方案。
方法： 这项前瞻性横断面研究纳入了34例声门下狭窄患者的活检组织，采集于2020年至2023年间。从组织样本中提取核酸，并采用全基因组测序进行分析。通过测序数据的分类学分析来表征微生物组成。对 reads 数足够的物种，采用序列比对方法进一步验证，以确保鉴定的准确性。
结果： 使用目前临床可用的最全面的基因组检测形式，我们提供了经过整理且稳定的数据，显示34例中有28例存在痤疮丙酸杆菌（Cutibacterium acnes）。
结论： 痤疮丙酸杆菌可能是SGS特征性炎症的驱动因素，应在未来以治疗为导向的研究中加以考虑。

英文摘要

PURPOSE: Subglottic stenosis (SGS) progressively reduces the airway below the vocal folds. The cause is not known and there is a recurrent need of surgical treatment. Including all phenotypes, SGS affects 1/400 000/yr, with a female dominance. Previous studies have revealed a possible role of the Mycobacterium complex in SGS development. Our hypothesis is that microbiota is associated with the inflammation in SGS, if true it might affect the prevailing treatment options.
METHODS: This prospective cross-sectional study included biopsies from 34 patients with subglottic stenosis, collected between 2020 and 2023. Nucleic acids were extracted from the tissue samples and analysed using whole genome sequencing. Microbial composition was characterized using taxonomic profiling of sequencing data. Species with sufficient read counts were selected for further validation using sequence alignment methods to ensure accuracy of identification.
RESULTS: Using the most comprehensive form of genomic testing currently in clinical use, we present curated and stable data on the presence of Cutibacterium acnes in 28 out of the 34 cases.
CONCLUSION: Cutibacterium acnes may serve as a driver of the inflammation characterizing SGS and should be considered in therapeutically oriented future studies.