|
rs104893624
|
|
WHIM syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
To characterize novel genetic causes of the syndrome, we recruited a pediatric patient with possible WHIM syndrome, performed CXCR4 gene sequencing and compared his clinical phenotype and CXCR4 tail amino acid sequences with other patients with WHIM syndrome carrying CXCR4 (R334X) mutations.
|
27059040 |
2016 |
|
rs104893624
|
|
WHIM syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
Deletion of the 238-246 motif accelerated CXCL12-induced wild-type (WT) receptor endocytosis but enabled CXCL12-mediated endocytosis and normalized signaling by the WHIM-associated receptor CXCR4(R334X).
|
25355818 |
2015 |
|
rs104893624
|
|
WHIM syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
Accordingly, like CXCR4(R334X), the most common truncation mutation in WHIM syndrome, CXCR4(E343K) mediated approximately 2-fold increased signaling in calcium flux and chemotaxis assays relative to wild-type CXCR4; however, CXCR4(E343K) had a reduced effect on blocking normal receptor down-regulation from the cell surface.
|
22596258 |
2012 |
|
rs104893624
|
|
WHIM syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
Together, our data provide further evidence that CXCR4(R334X) is a gain-of-function mutation, and support clinical evaluation of AMD3100 as mechanism-based treatment in patients with WHIM syndrome.
|
21070597 |
2011 |
|
rs104893624
|
|
WHIM syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
A nonsense mutation (C-->T) truncating the CXC chemokine receptor 4 (CXCR4) C-terminal cytoplasmic tail domain occurred at nucleotide position 1000(R334X) of the CXCR4 gene in one allele of the patient was identified, and the person was diagnosed as having WHIM syndrome.
|
19476565 |
2009 |
|
rs104893626
|
|
WHIM syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
We engineered WM cells to express the most common WHIM (Warts, Hypogammaglobulinemia, Infections and Myelokathexis), CXCR(S338X) mutation in WM.
|
24912431 |
2015 |
|
rs104893626
|
|
WHIM syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
We screened 418 patients with B-cell lymphoproliferative disorders and described the presence of the C1013G/CXCR4 warts, hypogammaglobulinemia, infections, and myelokathexis-associated mutation in 28.2% (37/131) of patients with lymphoplasmacytic lymphoma (Waldenström macroglobulinemia [WM]), being either absent or present in only 7% of other B-cell lymphomas.
|
24711662 |
2014 |
|
rs767830104
|
|
Coronary Artery Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset of coronary artery disease among North Indians.
|
22731642 |
2012 |
|
rs767830104
|
|
Coronary Artery Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
Adjusted for classical risk factors (age, sex, hypertension, dyslipidemia, diabetes mellitus and smoking), the odds ratio (OR) of V249I for CAD was 0.95 (95% confidence interval (CI)=0.78-1.15, p=0.61).
|
19628406 |
2009 |
|
rs767830104
|
|
Coronary Artery Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
We examined the frequencies of V249I and T280M among early-onset CAD patients (G1; n = 149; <50 years), late-onset CAD patients (G2; n = 150; >65 years) and healthy controls (HC; n = 149, 47-93 years) without known CAD risk factors.
|
18609106 |
2008 |
|
rs767830104
|
|
Coronary Artery Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
We investigated the effect of 5 common variations of chemokine and chemokine receptor genes (SDF1-3'A, CCR5-delta32, CCR2-64I, CX3CR1-V249I and CX3CR1-T280M) on predisposition to CAD.
|
16480760 |
2007 |
|
rs767830104
|
|
Coronary Artery Disease
|
|
0.050 |
GeneticVariation
|
BEFREE |
Genotyping of the CX3CR1-V249I polymorphism was performed in a cohort of 339 white individuals who underwent cardiac catheterization (n=197 with and n=142 without CAD, respectively).
|
11532900 |
2001 |
|
rs104893626
|
|
Waldenstrom Macroglobulinemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
The AS-PCR assays detected CXCR4(S338X) mutations in WM and IgM monoclonal gammopathy of unknown significance (MGUS) patients not revealed by Sanger sequencing.
|
26659815 |
2016 |
|
rs104893626
|
|
Waldenstrom Macroglobulinemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Last, CXCR4(S338X) WM cells showed varying levels of resistance to other WM relevant therapeutics, including bendamustine, fludarabine, bortezomib and idelalisib in the presence of SDF-1a.
|
24912431 |
2015 |
|
rs104893626
|
|
Waldenstrom Macroglobulinemia
|
|
0.030 |
GeneticVariation
|
BEFREE |
C1013G/CXCR4 acts as a driver mutation of tumor progression and modulator of drug resistance in lymphoplasmacytic lymphoma.
|
24711662 |
2014 |
|
rs371074389
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Previous studies have demonstrated that the CXCL12 G801A polymorphism is closely correlated with tumor susceptibility.
|
26782381 |
2015 |
|
rs371074389
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
CXCL12 G801A polymorphism is associated with an increased risk of benign salivary gland tumors in the Chinese population.
|
21298365 |
2012 |
|
rs371074389
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
801A carrier status (801G/A, 801A/A) was found to be associated with a higher PBB count compared with 801G/G homozygous patients (P=0.031) and higher frequency of extramedullar tumor sites (odds ratio 2.92, 95% confidence interval 1.18-7.21, P=0.018).
|
16818471 |
2006 |
|
rs763059810
|
|
HIV-1 infection
|
|
0.030 |
GeneticVariation
|
BEFREE |
Structural insight into a novel human CCR5-V130I variant associated with resistance to HIV-1 infection.
|
23869485 |
2014 |
|
rs763059810
|
|
HIV-1 infection
|
|
0.030 |
GeneticVariation
|
BEFREE |
In addition, we also identified the best three-factor interaction model, including the CCR5 58755-A/G, 59029-A/G, and CCR2-V64I polymorphisms, indicating that there were also strong gene-gene interactions between the CCR5 promoter and CCR2 polymorphisms on the susceptibility of HIV-1 infection.
|
23057571 |
2012 |
|
rs763059810
|
|
Human immunodeficiency virus (HIV) II infection category B1
|
|
0.030 |
GeneticVariation
|
BEFREE |
In a North American, treated, adherent human immunodeficiency virus (HIV)-positive cohort (self-identified whites, n = 175; blacks, n = 218), we investigated whether CYP2B6 (516G>T, 983T>C), UGT2B7 (IVS1+985A>G, 802C>T), MDR1 3435C>T, chemokine (C-C motif) receptor 2 (CCR2) 190G>A, and CCR5 (-2459G>A, Δ32) polymorphisms influenced the time to achieve virologic success (TVLS).
|
21673041 |
2011 |
|
rs763059810
|
|
HIV-1 infection
|
|
0.030 |
GeneticVariation
|
BEFREE |
A single nucleotide polymorphism (SNP) at codon 64 in the CC chemokine receptor 2 gene (CCR2 V64I) has been associated with a dominant effect of delaying disease progression from human immunodeficiency virus-1 (HIV-1) infection to acquired immunodeficiency syndrome (AIDS).
|
12325020 |
2002 |
|
rs763059810
|
|
Human immunodeficiency virus (HIV) II infection category B1
|
|
0.030 |
GeneticVariation
|
BEFREE |
A single nucleotide polymorphism (SNP) at codon 64 in the CC chemokine receptor 2 gene (CCR2 V64I) has been associated with a dominant effect of delaying disease progression from human immunodeficiency virus-1 (HIV-1) infection to acquired immunodeficiency syndrome (AIDS).
|
12325020 |
2002 |
|
rs763059810
|
|
Human immunodeficiency virus (HIV) II infection category B1
|
|
0.030 |
GeneticVariation
|
BEFREE |
Of the 99 HIV-seronegative female workers, 19 (19.2%) were heterozygous for the CCR2b-V64I mutation compared with 37 (23%) of the 161 HIV-seropositive FSW (P = 0.47).
|
11468722 |
2001 |
|
rs766914563
|
|
Neoplasms
|
|
0.030 |
GeneticVariation
|
BEFREE |
Previous studies have demonstrated that the CXCL12 G801A polymorphism is closely correlated with tumor susceptibility.
|
26782381 |
2015 |