Polymorphisms in Innate and Adaptive Immune Genes in Subjects with Allergic Bronchopulmonary Aspergillosis Complicating Asthma.
Allergic bronchopulmonary mycosis
Allergic fungal airway disease
Bronchiectasis
Fungal asthma
Genetic association studies
Haplotype
Journal
Mycopathologia
ISSN: 1573-0832
Titre abrégé: Mycopathologia
Pays: Netherlands
ID NLM: 7505689
Informations de publication
Date de publication:
26 Feb 2024
26 Feb 2024
Historique:
received:
09
08
2023
accepted:
29
01
2024
medline:
26
2
2024
pubmed:
26
2
2024
entrez:
26
2
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 38407762
doi: 10.1007/s11046-024-00834-5
pii: 10.1007/s11046-024-00834-5
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
23Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Nature B.V.
Références
Agarwal R, Muthu V, Sehgal IS, Dhooria S, Prasad KT, Aggarwal AN. Allergic bronchopulmonary aspergillosis. Clin Chest Med. 2022;43(1):99–125. https://doi.org/10.1016/J.Ccm.2021.12.002 .
doi: 10.1016/J.Ccm.2021.12.002
pubmed: 35236565
Rc R, Greenberger PA, Patterson R, Ghory A. Mould counts and exacerbations of allergic bronchopulmonary aspergillosis. Clin Allergy. 1983;13(3):271–5.
doi: 10.1111/j.1365-2222.1983.tb02598.x
Ok M, Einsele H, Loeffler J. Genetic susceptibility to aspergillus fumigatus infections. Int J Med Microbiol. 2011;301(5):445–52. https://doi.org/10.1016/J.Ijmm.2011.04.013 .
doi: 10.1016/J.Ijmm.2011.04.013
pubmed: 21550849
Agarwal R, Chakrabarti A, Shah A, Gupta D, Jf M, Guleria R, et al. Allergic bronchopulmonary aspergillosis: review of literature and proposal of new diagnostic and classification criteria. Clin Exp Allergy. 2013;43(8):850–73. https://doi.org/10.1111/Cea.12141 .
doi: 10.1111/Cea.12141
pubmed: 23889240
Schuyler M. The Th1/Th2 paradigm in allergic bronchopulmonary aspergillosis. J Lab Clin Med. 1998;131(3):194–6.
doi: 10.1016/S0022-2143(98)90089-0
pubmed: 9523841
Sj P, Innate MB, Species ITA. Innate immunity to aspergillus species. Clin Microbiol Rev. 2009;22(4):535–51. https://doi.org/10.1128/Cmr.00014-09 .
doi: 10.1128/Cmr.00014-09
Agarwal R, Sehgal IS, Muthu V, Dhar R, Armstrong-James D. Allergic bronchopulmonary aspergillosis in India. Clin Exp Allergy. 2023;53(7):751–64. https://doi.org/10.1111/Cea.14319 .
doi: 10.1111/Cea.14319
pubmed: 37062874
Bk N. Prevalence of fungal spores in rural and urban environments of pondicherry region during 2013. Adv Appl Sci Res. 2014;5(5):232–6.
Rudramurthy SM, Singh G, Hallur V, Verma S, Chakrabarti A. High fungal spore burden with predominance of aspergillus in hospital air of a tertiary care hospital in Chandigarh. Indian J Med Microbiol. 2016;34(4):529–32. https://doi.org/10.4103/0255-0857.195359 .
doi: 10.4103/0255-0857.195359
pubmed: 27934837
Kanaujia R, Arora A, Chakrabarti A, Rudramurthy SM, Agarwal R. Occurrence of cystic fibrosis transmembrane conductance regulator gene mutations in patients with allergic bronchopulmonary aspergillosis complicating asthma. Mycopathologia. 2022;187(2–3):147–55. https://doi.org/10.1007/S11046-022-00631-Y .
doi: 10.1007/S11046-022-00631-Y
pubmed: 35430640
Agarwal R, Dhooria S, Aggarwal AN, Maturu VN, Sehgal IS, Muthu V, et al. Guidelines for diagnosis and management of bronchial asthma: joint Ics/Nccp (i) recommendations. Lung India. 2015;32(Suppl 1):S3–42. https://doi.org/10.4103/0970-2113.154517 .
doi: 10.4103/0970-2113.154517
pubmed: 25948889
pmcid: 4405919
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, Depristo MA, et al. The variant call format and vcftools. Bioinformatics. 2011;27(15):2156–8. https://doi.org/10.1093/Bioinformatics/Btr330 .
doi: 10.1093/Bioinformatics/Btr330
pubmed: 21653522
pmcid: 3137218
Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. Plink: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81(3):559–75. https://doi.org/10.1086/519795 .
doi: 10.1086/519795
pubmed: 17701901
pmcid: 1950838
Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. Clinvar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062–7. https://doi.org/10.1093/Nar/Gkx1153 .
doi: 10.1093/Nar/Gkx1153
pubmed: 29165669
Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of Ld and haplotype maps. Bioinformatics. 2005;21(2):263–5. https://doi.org/10.1093/Bioinformatics/Bth457 .
doi: 10.1093/Bioinformatics/Bth457
pubmed: 15297300
Gabriel SB, Schaffner SF, Nguyen H, Moore JM, Roy J, Blumenstiel B, et al. The structure of haplotype blocks in the human genome. Science. 2002;296(5576):2225–9. https://doi.org/10.1126/Science.1069424 .
doi: 10.1126/Science.1069424
pubmed: 12029063
Overton NL, Denning DW, Bowyer P, Simpson A. Genetic susceptibility to allergic bronchopulmonary aspergillosis in asthma: a genetic association study. Allergy Asthma Clin Immunol. 2016;12:47. https://doi.org/10.1186/S13223-016-0152-Y .
doi: 10.1186/S13223-016-0152-Y
pubmed: 27708669
pmcid: 5037889
Ramaprakash H, Ito T, Standiford TJ, Kunkel SL, Hogaboam CM. Toll-like receptor 9 modulates immune responses to aspergillus fumigatus conidia in immunodeficient and allergic mice. Infect Immun. 2009;77(1):108–19. https://doi.org/10.1128/Iai.00998-08 .
doi: 10.1128/Iai.00998-08
pubmed: 18936185
Carvalho A, Pasqualotto AC, Pitzurra L, Romani L, Denning DW, Rodrigues F. Polymorphisms in toll-like receptor genes and susceptibility to pulmonary aspergillosis. J Infect Dis. 2008;197(4):618–21. https://doi.org/10.1086/526500 .
doi: 10.1086/526500
pubmed: 18275280
Zg R-O, Ca S, Jp W, Ck L, Dc B, Rt G, Sm L. Toll-like receptor 9-dependent immune activation by unmethylated Cpg Motifs in aspergillus fumigatus Dna. Infect Immun. 2008;76(5):2123–9. https://doi.org/10.1128/Iai.00047-08 .
doi: 10.1128/Iai.00047-08
Ns K, Pv K, Ak T, Mk M, Jm T, Mw S, et al. Dectin-1 controls Tlr9 trafficking to phagosomes containing Β-1,3 glucan. J Immunol. 2016;196(5):2249–61. https://doi.org/10.4049/Jimmunol.1401545 .
doi: 10.4049/Jimmunol.1401545
Saxena S, Madan T, Shah A, Muralidhar K, Sarma PU. Association of polymorphisms in the collagen region of Sp-A2 with increased levels of total ige antibodies and eosinophilia in patients with allergic bronchopulmonary aspergillosis. J Allergy Clin Immunol. 2003;111(5):1001–7.
doi: 10.1067/mai.2003.1395
pubmed: 12743564
Knutsen AP, Kariuki B, Consolino JD, Warrier MR. Il-4 alpha chain receptor (Il-4ralpha) polymorphisms in allergic bronchopulmonary sspergillosis. Clin Mol Allerg. 2006;4:3. https://doi.org/10.1186/1476-7961-4-3 .
doi: 10.1186/1476-7961-4-3
Navarathna Dh, Ms L, Roberts Dd. Endothelial nitric oxide synthase limits host immunity to control disseminated candida albicans infections in Mice. PLoS ONE. 2019;14(10):E0223919. https://doi.org/10.1371/Journal.Pone.0223919 .
doi: 10.1371/Journal.Pone.0223919
pubmed: 31671151
pmcid: 6822743
Muro M, Mondejar-Lopez P, Mr M-Q, Salgado G, Pastor-Vivero Md, Lopez-Hernandez R, et al. Hla-Drb1 And Hla-Dqb1 genes on susceptibility to and protection from allergic bronchopulmonary aspergillosis in patients with cystic fibrosis. Microbiol Immunol. 2013;57(3):193–7. https://doi.org/10.1111/1348-0421.12020 .
doi: 10.1111/1348-0421.12020
pubmed: 23278646