| The Y238X stop codon polymorphism in the human β-glucan receptor dectin-1 and susceptibility to invasive aspergillosis. | |
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MedLine Citation:
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PMID: 21242599 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Dectin-1 is the major receptor for fungal β-glucans on myeloid cells. We investigated whether defective Dectin-1 receptor function, because of the early stop codon polymorphism Y238X, enhances susceptibility to invasive aspergillosis (IA) in at-risk patients. METHODS: Association of Dectin-1 Y238X polymorphism with occurrence and clinical course of IA was evaluated in 71 patients who developed IA post hematopoietic stem cell transplantation (HSCT) and in another 21 non-HSCT patients with IA. The control group consisted of 108 patients who underwent HSCT. Functional studies were performed to investigate consequences of the Y238X Dectin-1 polymorphism. RESULTS: The Y238X allele frequency was higher in non-HSCT patients with IA (19.0% vs 6.9%-7.7%; P < .05). Heterozygosity for Y238X polymorphism in HSCT recipients showed a trend toward IA susceptibility (odds ratio, 1.79; 95% CI, .77-4.19; P = .17) but did not influence clinical course of IA. Functional assays revealed that although peripheral blood mononuclear cells with defective Dectin-1 function due to Y238X responded less efficiently to Aspergillus, corresponding macrophages showed adequate response to Aspergillus. CONCLUSIONS: Dectin-1 Y238X heterozygosity has a limited influence on susceptibility to IA and may be important in susceptible non-HSCT patients. This is partly attributable to redundancy inherent in the innate immune system. Larger studies are needed to confirm these findings. |
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Authors:
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Louis Y A Chai; Mark G J de Boer; Walter J F M van der Velden; Theo S Plantinga; Annemiek B van Spriel; Cor Jacobs; Constantijn J M Halkes; Alieke G Vonk; Nicole M Blijlevens; Jaap T van Dissel; Peter J Donnelly; Bart-Jan Kullberg; Johan Maertens; Mihai G Netea |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2011-01-17 |
Journal Detail:
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Title: The Journal of infectious diseases Volume: 203 ISSN: 1537-6613 ISO Abbreviation: J. Infect. Dis. Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-02-01 Completed Date: 2011-03-17 Revised Date: 2012-09-20 |
Medline Journal Info:
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Nlm Unique ID: 0413675 Medline TA: J Infect Dis Country: United States |
Other Details:
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Languages: eng Pagination: 736-43 Citation Subset: AIM; IM |
Affiliation:
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Department of Medicine, Radboud University Nijmegen Medical Centre, The Netherlands. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Aspergillosis / genetics*, immunology* Belgium Case-Control Studies Codon, Terminator / genetics* Cytokines Female Flow Cytometry Gene Frequency Genetic Predisposition to Disease / genetics* Genotype Hematopoietic Stem Cell Transplantation / adverse effects Heterozygote Humans Male Membrane Proteins / genetics*, metabolism Middle Aged Nerve Tissue Proteins / genetics*, metabolism Netherlands Polymorphism, Single Nucleotide beta-Glucans / metabolism |
| Chemical | |
Reg. No./Substance:
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0/Codon, Terminator; 0/Cytokines; 0/Membrane Proteins; 0/Nerve Tissue Proteins; 0/beta-Glucans; 0/dectin 1 |
| Comments/Corrections | |
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