|
Candidemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
No significant association between the single-nucleotide polymorphisms DECTIN-1 Y238X and CARD9 S12N and the prevalence of candidemia was found, despite the association of the DECTIN-1 238X allele with impaired in vitro and in vivo cytokine production.
|
21881131 |
2011 |
|
Candidemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
The role of Candida species herein has recently been rediscovered since a 'loss-of-function' Y238X polymorphism in dectin-1, a C-type lectin receptor recognizing the β-1,3-glucan motif of Candida, resulted in diminished membrane expression and lower cytokine responses upon β-1,3-glucan recognition, and was associated with increased Candida colonization of SCT recipients, rendering them at risk for candidaemia.
|
21178438 |
2011 |
|
Candidemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Screening for the DECTIN-1 Y238X polymorphism within a group of 142 patients undergoing HSCT was correlated with Candida colonization and candidemia.
|
19614557 |
2009 |
|
Candidiasis, Vulvovaginal
|
|
0.020 |
GeneticVariation
|
BEFREE |
The role of Human Dectin-1 Y238X Gene Polymorphism in recurrent vulvovaginal candidiasis infections.
|
25008994 |
2014 |
|
Invasive aspergillosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Dectin-1 Y238X heterozygosity has a limited influence on susceptibility to IA and may be important in susceptible non-HSCT patients.
|
21242599 |
2011 |
|
Invasive aspergillosis
|
|
0.020 |
GeneticVariation
|
BEFREE |
Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity.
|
20807886 |
2010 |
|
Candidiasis, Vulvovaginal
|
|
0.020 |
GeneticVariation
|
BEFREE |
We describe a family in which four women who were affected by either recurrent vulvovaginal candidiasis or onychomycosis had the early-stop-codon mutation Tyr238X in the beta-glucan receptor dectin-1.
|
19864674 |
2009 |
|
Immunosuppression
|
|
0.010 |
GeneticVariation
|
BEFREE |
Y238X carriers had an increased risk of fungal pathogens (HR 1.17, CI 1.0-1.4), an increased risk of graft dysfunction or death (HR 1.6, CI 1.0-2.6), as well increased mortality in the UCSF cohort (HR 1.8, CI 1.1-3.8) and in the LTOG cohort (HR 1.3, CI 1.1-1.6), compared with wild-type CLEC7A subjects.CONCLUSIONIncreased rates of graft dysfunction and death associated with this dectin-1 polymorphism may be amplified by immunosuppression that drives higher fungal burden from compromised pathogen recognition.FUNDINGThe UCSF Nina Ireland Program for Lung Health Innovative Grant program, the Clinical Sciences Research & Development Service of the VA Office of Research and Development, and the Joel D. Cooper Career Development Award from the International Society for Heart and Lung Transplantation.
|
31613800 |
2019 |
|
Aspergillosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We found that the presence of the DECTIN1 Y238X polymorphism in either donors or recipients of hematopoietic stem cell transplantation increased susceptibility to aspergillosis, with the risk being highest when the polymorphism was present simultaneously in both donors and recipients (adjusted hazard ratio = 3.9; P = .005).
|
20807886 |
2010 |
|
Acute GVH disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
The fact that this was not the case in patients from pairs with the Y238X polymorphism (OR=1.2, ns) suggests that despite increased colonization defective dectin-1 signaling might have prevented an impact of Candida colonization on the incidence of acute GvHD to occur.
|
20452827 |
2010 |
|
bone destruction
|
|
0.010 |
GeneticVariation
|
BEFREE |
Furthermore, clinical parameters of inflammation and bone destruction of 262 RA patients were correlated with the presence of the DECTIN-1 Y238X polymorphism.
|
20158887 |
2010 |
|
Rheumatoid Arthritis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Although expression of dectin-1 was high in synovial tissue of RA patients, and reduced cytokine production was observed in macrophages of individuals bearing the DECTIN-1 Y238X polymorphism, loss of one functional allele of DECTIN-1 is not associated with either susceptibility to or severity of RA.
|
20158887 |
2010 |
|
Inflammatory Bowel Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
The DECTIN-1 c.714T>G polymorphism however, is not a major susceptibility factor for developing IBD.
|
19915667 |
2009 |
|
Ulcerative Colitis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genomic DNA of IBD patients (778 patients with Crohn's disease and 759 patients with ulcerative colitis) and healthy controls (n = 772) was genotyped for the c.714T>G polymorphism and genotype-phenotype interactions were investigated.
|
19915667 |
2009 |
|
Crohn Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genomic DNA of IBD patients (778 patients with Crohn's disease and 759 patients with ulcerative colitis) and healthy controls (n = 772) was genotyped for the c.714T>G polymorphism and genotype-phenotype interactions were investigated.
|
19915667 |
2009 |
|
Onychomycosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
We describe a family in which four women who were affected by either recurrent vulvovaginal candidiasis or onychomycosis had the early-stop-codon mutation Tyr238X in the beta-glucan receptor dectin-1.
|
19864674 |
2009 |