RGD Reference Report - Dectin-1 and DC-SIGN polymorphisms associated with invasive pulmonary Aspergillosis infection. - Rat Genome Database

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Dectin-1 and DC-SIGN polymorphisms associated with invasive pulmonary Aspergillosis infection.

Authors: Sainz, Juan  Lupiáñez, Carmen Belén  Segura-Catena, Juana  Vazquez, Lourdes  Ríos, Rafael  Oyonarte, Salvador  Hemminki, Kari  Försti, Asta  Jurado, Manuel 
Citation: Sainz J, etal., PLoS One. 2012;7(2):e32273. doi: 10.1371/journal.pone.0032273. Epub 2012 Feb 27.
RGD ID: 39938996
Pubmed: PMID:22384201   (View Abstract at PubMed)
PMCID: PMC3288082   (View Article at PubMed Central)
DOI: DOI:10.1371/journal.pone.0032273   (Journal Full-text)

The recognition of pathogen-derived structures by C-type lectins and the chemotactic activity mediated by the CCL2/CCR2 axis are critical steps in determining the host immune response to fungi. The present study was designed to investigate whether the presence of single nucleotide polymorphisms (SNPs) within DC-SIGN, Dectin-1, Dectin-2, CCL2 and CCR2 genes influence the risk of developing Invasive Pulmonary Aspergillosis (IPA). Twenty-seven SNPs were selected using a hybrid functional/tagging approach and genotyped in 182 haematological patients, fifty-seven of them diagnosed with proven or probable IPA according to the 2008 EORTC/MSG criteria. Association analysis revealed that carriers of the Dectin-1(rs3901533 T/T) and Dectin-1(rs7309123 G/G) genotypes and DC-SIGN(rs4804800 G), DC-SIGN(rs11465384 T), DC-SIGN(7248637 A) and DC-SIGN(7252229 C) alleles had a significantly increased risk of IPA infection (OR = 5.59 95%CI 1.37-22.77; OR = 4.91 95%CI 1.52-15.89; OR = 2.75 95%CI 1.27-5.95; OR = 2.70 95%CI 1.24-5.90; OR = 2.39 95%CI 1.09-5.22 and OR = 2.05 95%CI 1.00-4.22, respectively). There was also a significantly increased frequency of galactomannan positivity among patients carrying the Dectin-1(rs3901533_T) allele and Dectin-1(rs7309123_G/G) genotype. In addition, healthy individuals with this latter genotype showed a significantly decreased level of Dectin-1 mRNA expression compared to C-allele carriers, suggesting a role of the Dectin-1(rs7309123) polymorphism in determining the levels of Dectin-1 and, consequently, the level of susceptibility to IPA infection. SNP-SNP interaction (epistasis) analysis revealed significant interactions models including SNPs in Dectin-1, Dectin-2, CCL2 and CCR2 genes, with synergistic genetic effects. Although these results need to be further validated in larger cohorts, they suggest that Dectin-1, DC-SIGN, Dectin-2, CCL2 and CCR2 genetic variants influence the risk of IPA infection and might be useful in developing a risk-adapted prophylaxis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CD209HumanInvasive Pulmonary Aspergillosis susceptibilityIAGP DNA:SNPs:3'utr and intron:multipleRGD 
Cd209dRatInvasive Pulmonary Aspergillosis susceptibilityISOCD209 (Homo sapiens)DNA:SNPs:3'utr and intron:multipleRGD 

Objects Annotated

Genes (Rattus norvegicus)
Cd209d  (CD209d molecule)

Genes (Homo sapiens)
CD209  (CD209 molecule)


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