|
rs1554162524
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1556408009
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs4358188
|
|
|
0.020 |
GeneticVariation |
BEFREE |
To determine whether the genotype frequencies of the five bi-allelic polymorphisms in the bactericidal/permeability increasing protein (BPI) (Lys216 --> Glu; PstI polymorphism in intron 5; silent mutation G545 --> C) and the lipopolysaccharide binding protein (LBP) (Cys98 --> Gly; Pro436 --> Leu) are associated with the incidence and lethality of sepsis.
|
11373419 |
2001 |
|
rs374520012
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To determine whether the genotype frequencies of the five bi-allelic polymorphisms in the bactericidal/permeability increasing protein (BPI) (Lys216 --> Glu; PstI polymorphism in intron 5; silent mutation G545 --> C) and the lipopolysaccharide binding protein (LBP) (Cys98 --> Gly; Pro436 --> Leu) are associated with the incidence and lethality of sepsis.
|
11373419 |
2001 |
|
rs1800562
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Vibrio vulnificus septicemia in a patient with the hemochromatosis HFE C282Y mutation.
|
11473471 |
2001 |
|
rs4986790
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphism(s) with outcome in an intensive care unit (ICU) population at risk for sepsis.
|
12404174 |
2002 |
|
rs4986791
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Our study investigated the association between TLR4 mutations (Asp299Gly and Thr399Ile) and CD14 polymorphism(s) with outcome in an intensive care unit (ICU) population at risk for sepsis.
|
12404174 |
2002 |
|
rs4986790
|
|
|
0.090 |
GeneticVariation |
BEFREE |
To investigate whether the presence of the TLR4(D299G) mutation may correlate with the development or outcome of sepsis following major visceral surgery the presence of TLR4(D299G) mutation was analysed in 307 Caucasian patients (154 without and 153 with sepsis).
|
12807489 |
2003 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that the alterations in expression of the markers studied are due to the activation of the Jak/signal transducer and activator of transcription (STAT) pathway through exogenous stimuli (sepsis or G-CSF treatment), or endogenously through the JAK2-V617F mutation.
|
16081684 |
2005 |
|
rs1475145065
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, the relationship between the TNF-alpha 308G/A, the IL-6-174 G/C, the PAI-1, the FVL, the EPCR, and the Cathepsin G (Ars 125 Ser) polymorphisms and the development and outcome of sepsis in pediatric patients was studied.
|
16444434 |
2006 |
|
rs747126003
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, the relationship between the TNF-alpha 308G/A, the IL-6-174 G/C, the PAI-1, the FVL, the EPCR, and the Cathepsin G (Ars 125 Ser) polymorphisms and the development and outcome of sepsis in pediatric patients was studied.
|
16444434 |
2006 |
|
rs773829498
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, the relationship between the TNF-alpha 308G/A, the IL-6-174 G/C, the PAI-1, the FVL, the EPCR, and the Cathepsin G (Ars 125 Ser) polymorphisms and the development and outcome of sepsis in pediatric patients was studied.
|
16444434 |
2006 |
|
rs2066845
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The three most common NOD2/CARD15 variants (Arg702Trp, Gly908Arg, and Leu1007fsinsC) were determined in 132 prospectively characterised patients with sepsis attended to three intensive care units at the University of Regensburg by Taqman PCR.
|
17558494 |
2007 |
|
rs4986790
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be associated with increased risk of Gram-negative bacteremia in sepsis patients and with susceptibility to inflammatory bowel disease.
|
18034244 |
2008 |
|
rs4986791
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Two commonly occurring SNPs in the human TLR4 gene (Asp299Gly and Thr399Ile) have been shown to be associated with increased risk of Gram-negative bacteremia in sepsis patients and with susceptibility to inflammatory bowel disease.
|
18034244 |
2008 |
|
rs5743708
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 responsiveness and may contribute to the course of sepsis, which is associated with substantial morbidity and mortality during intensive care treatment.
|
18249133 |
2008 |
|
rs121917864
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 responsiveness and may contribute to the course of sepsis, which is associated with substantial morbidity and mortality during intensive care treatment.
|
18249133 |
2008 |
|
rs1800629
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Carriage of the TNF rs1800629 A allele was associated with higher TNF-alpha serum concentrations on the first day after trauma and during follow-up (two-sided p = 5.0 x 10(-5)), with development of sepsis syndrome (odds ratio 7.14, two-sided p = 1.2 x 10(-6); external validation sample [n = 76]: odds ratio 3.3, one-sided p = .03), and with fatal outcome (odds ratio 7.65, two-sided p = 1.9 x 10(-6)).
|
18434886 |
2008 |
|
rs1799983
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The eNOS gene polymorphism at position 894 (G>T, Glu298Asp) resulting in T allele has been studied in the context of vascular diseases, but its role in sepsis has not yet been explored.
|
18827745 |
2009 |
|
rs773520745
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Another with mis-sense IL12RB1 mutation (Arg211Pro) was noted as recurrent Salmonella enteritidis D sepsis and pneumatocele.
|
18972195 |
2009 |
|
rs4986790
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Six haplotype-tagging SNPs in the TLR4 gene were subsequently examined to analyze their influence on TLR4 A896G SNPs relationship to sepsis severity.
|
19131814 |
2009 |
|
rs8177374
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We assessed the TIRAP S180L variant by melting curve and RFLP analysis in 1095 delivering women from malaria-endemic Ghana, as well as in a further 1114 individuals participating in case control studies on sepsis and leprosy in Germany, Turkey and Bangladesh.
|
19602285 |
2009 |
|
rs121918094
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gly47Glu and Leu12Pro mutations showed an aggressive clinical manifestation: 2 patients with the Gly47Glu mutation, the youngest patients of all the non-Val30Met patients, suffered from severe cardiac symptoms leading to death despite LT. Two siblings with the Leu12Pro mutation, who presented only with grand mal seizures, died after LT because of sepsis.
|
20209591 |
2010 |
|
rs1061170
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Homozygosity for the complement factor H Y402H polymorphism, which is thought to reduce complement inhibition, was associated with less frequent SIRS/sepsis (the adjusted odds ratio for the homozygous variant complement factor H Y402H [CC] carriers was 0.3, 95% confidence interval, 0.1-0.7, p = .005).
|
20351616 |
2010 |
|
rs1800896
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes were associated with sepsis.
|
20463618 |
2010 |