Document Detail

The Y238X stop codon polymorphism in the human β-glucan receptor dectin-1 and susceptibility to invasive aspergillosis.
MedLine Citation:
PMID:  21242599     Owner:  NLM     Status:  MEDLINE    
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.
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-01-17
Journal Detail:
Title:  The Journal of infectious diseases     Volume:  203     ISSN:  1537-6613     ISO Abbreviation:  J. Infect. Dis.     Publication Date:  2011 Mar 
Date Detail:
Created Date:  2011-02-01     Completed Date:  2011-03-17     Revised Date:  2013-07-02    
Medline Journal Info:
Nlm Unique ID:  0413675     Medline TA:  J Infect Dis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  736-43     Citation Subset:  AIM; IM    
Department of Medicine, Radboud University Nijmegen Medical Centre, The Netherlands.
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MeSH Terms
Aspergillosis / genetics*,  immunology*
Case-Control Studies
Codon, Terminator / genetics*
Flow Cytometry
Gene Frequency
Genetic Predisposition to Disease / genetics*
Hematopoietic Stem Cell Transplantation / adverse effects
Lectins, C-Type
Membrane Proteins / genetics*,  metabolism
Middle Aged
Nerve Tissue Proteins / genetics*,  metabolism
Polymorphism, Single Nucleotide
beta-Glucans / metabolism
Reg. No./Substance:
0/Codon, Terminator; 0/Cytokines; 0/Lectins, C-Type; 0/Membrane Proteins; 0/Nerve Tissue Proteins; 0/beta-Glucans; 0/dectin 1

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