Polymorphisms in Innate and Adaptive Immune Genes in Subjects with Allergic Bronchopulmonary Aspergillosis Complicating Asthma.

IF 3.6 3区生物学 Q2 MYCOLOGY Mycopathologia Pub Date : 2024-02-26 DOI:10.1007/s11046-024-00834-5

Rimjhim Kanaujia, Amit Arora, Arunaloke Chakrabarti, Shivaprakash M Rudramurthy, Ritesh Agarwal

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Abstract

Innate and adaptive immunity play a crucial role in allergic bronchopulmonary aspergillosis (ABPA) pathogenesis. We performed next-generation sequencing using the Illumina TruSight One panel (4,811 human disease-associated genes, at least 20 × coverage) and selected 22 known immune genes (toll-like receptors (TLRs), C-type lectin, interleukin-4 receptor, and others). We included ABPA (n = 18), asthma without ABPA (n = 12), and healthy controls (n = 8). We analyzed 3011 SNPs from 22 genes and identified 145 SNPs (13 genes) that were present only in the disease groups and absent in controls. The SNP frequency overall was significantly higher in ABPA than in asthmatics (89/145 [61.4%] vs. 56/145 [38.6%], p = 0.0001). The SNP frequency in the TLR10 gene was also significantly higher in ABPA than in asthma (p = 0.017). Association analysis further revealed three genes having significant associations. Of these, NOS3 and HLA-DQB1 are associated with antimicrobial activity and adaptive immunity. More extensive studies are required to confirm our findings.

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过敏性支气管肺曲霉菌病并发哮喘患者的先天性和适应性免疫基因多态性。

先天性免疫和适应性免疫在过敏性支气管肺曲霉菌病（ABPA）发病机制中起着至关重要的作用。我们使用 Illumina TruSight One 面板（4,811 个人类疾病相关基因，至少 20 × 覆盖率）进行了新一代测序，并选择了 22 个已知的免疫基因（收费样受体 (TLR)、C 型凝集素、白细胞介素-4 受体等）。我们的研究对象包括 ABPA（18 人）、无 ABPA 的哮喘（12 人）和健康对照组（8 人）。我们分析了 22 个基因中的 3011 个 SNPs，发现 145 个 SNPs（13 个基因）只存在于疾病组中，而在对照组中不存在。ABPA 患者的 SNP 频率总体上明显高于哮喘患者（89/145 [61.4%] vs. 56/145 [38.6%]，P = 0.0001）。TLR10 基因中的 SNP 频率在 ABPA 患者中也明显高于哮喘患者（p = 0.017）。关联分析进一步显示，有三个基因存在显著关联。其中，NOS3 和 HLA-DQB1 与抗菌活性和适应性免疫有关。要证实我们的研究结果，还需要进行更广泛的研究。

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来源期刊

Mycopathologia 生物-真菌学

CiteScore

6.80

自引率

3.60%

发文量

审稿时长

3 months

期刊介绍： Mycopathologia is an official journal of the International Union of Microbiological Societies (IUMS). Mycopathologia was founded in 1938 with the mission to ‘diffuse the understanding of fungal diseases in man and animals among mycologists’. Many of the milestones discoveries in the field of medical mycology have been communicated through the pages of this journal. Mycopathologia covers a diverse, interdisciplinary range of topics that is unique in breadth and depth. The journal publishes peer-reviewed, original articles highlighting important developments concerning medically important fungi and fungal diseases. The journal highlights important developments in fungal systematics and taxonomy, laboratory diagnosis of fungal infections, antifungal drugs, clinical presentation and treatment, and epidemiology of fungal diseases globally. Timely opinion articles, mini-reviews, and other communications are usually invited at the discretion of the editorial board. Unique case reports highlighting unprecedented progress in the diagnosis and treatment of fungal infections, are published in every issue of the journal. MycopathologiaIMAGE is another regular feature for a brief clinical report of potential interest to a mixed audience of physicians and laboratory scientists. MycopathologiaGENOME is designed for the rapid publication of new genomes of human and animal pathogenic fungi using a checklist-based, standardized format.