CX3CR1, C-X3-C motif chemokine receptor 1, 1524

N. diseases: 310; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1050592
rs1050592
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE A haplotype formed with common alleles of rs1050592, T280M and V249I is also overtransmitted in asthmatic subjects (P=0.005) under a dominant model. 17082760 2006
dbSNP: rs11715522
rs11715522
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE We observed that a recessive model was a better fit to the data for some SNPs, with associations between rs11715522 and AMD (RR, 1.27; P = .03) and between rs2669845 (RR, 3.10; P = .04), rs2853707 (RR, 0.48; P = .050), and rs9868689 (RR, 0.31; P = .02) and neovascular AMD. 24287500 2014
dbSNP: rs12636547
rs12636547
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE In additive genetic models, we identified nonsignificant associations with AMD for T280M (RR, 0.87; P = .07) and 3 other SNPs, rs2853707 (RR, 0.88; P = .07), rs12636547 (RR, 0.85; P = .10), and rs1877563 (RR, 0.84; P = .06), 1 of which, rs2853707, is positioned in the CX3CR1 promoter region and was associated with neovascular AMD (RR, 0.75; P = .03). 24287500 2014
dbSNP: rs17793056
rs17793056
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE CX3CL1 and CX3CR1 may contribute to the formation of coronary atherosclerotic plaque in CAD.CX3CL1 rs170364 and CX3CR1 rs17793056 polymorphisms may be independent genetic risk factors for CAD. 25845619 2015
dbSNP: rs2669845
rs2669845
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Moreover, in exploratory analyses, we identified a number of possible interactions including between V249I and rs2669845 and dietary intake of ω-3 fatty acids (P = .004 and P = .009, respectively) for AMD; between rs2669845 and obesity (P = .03) for neovascular AMD; between T280M and complement component 3 (C3) R102G for AMD (P = .03); between rs2669845 and Y402H in complement factor H for AMD (P = .04); and between rs2669845, rs2853707, and V249I and C3 R102G for neovascular AMD (P = .008; .04; and .002, respectively). 24287500 2014
dbSNP: rs2669845
rs2669845
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE We observed that a recessive model was a better fit to the data for some SNPs, with associations between rs11715522 and AMD (RR, 1.27; P = .03) and between rs2669845 (RR, 3.10; P = .04), rs2853707 (RR, 0.48; P = .050), and rs9868689 (RR, 0.31; P = .02) and neovascular AMD. 24287500 2014
dbSNP: rs2853707
rs2853707
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Moreover, in exploratory analyses, we identified a number of possible interactions including between V249I and rs2669845 and dietary intake of ω-3 fatty acids (P = .004 and P = .009, respectively) for AMD; between rs2669845 and obesity (P = .03) for neovascular AMD; between T280M and complement component 3 (C3) R102G for AMD (P = .03); between rs2669845 and Y402H in complement factor H for AMD (P = .04); and between rs2669845, rs2853707, and V249I and C3 R102G for neovascular AMD (P = .008; .04; and .002, respectively). 24287500 2014
dbSNP: rs2853707
rs2853707
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.010 GeneticVariation BEFREE In additive genetic models, we identified nonsignificant associations with AMD for T280M (RR, 0.87; P = .07) and 3 other SNPs, rs2853707 (RR, 0.88; P = .07), rs12636547 (RR, 0.85; P = .10), and rs1877563 (RR, 0.84; P = .06), 1 of which, rs2853707, is positioned in the CX3CR1 promoter region and was associated with neovascular AMD (RR, 0.75; P = .03). 24287500 2014
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0023508
Disease:
White Blood Cell Count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0200637
Disease:
Monocyte count procedure
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0200635
Disease:
Lymphocyte Count measurement
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0750880
Disease:
Monocyte count result
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE Our study exclude an association between the T280M of the CX3CR1 gene and exudative AMD in a French population. 21621535 2011
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. 25050486 2014
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE Furthermore, lower CX3CR1 protein expression was observed in the maculae of AMD eyes bearing T/M280 compared with the controls bearing T/T280. 15208270 2004
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE PLEKHA1 958A/G polymorphism was associated with a decreased AMD risk (additive model: aOR=0.722, 95% CI=0.450-0.979, P=0.019; allele model: aOR=0.883, 95% CI=0.736-0.992, P=0.014), while all other polymorphisms were associated with an increased AMD risk (CX3CR1 839C/T, additive model: aOR=2.682, 95% CI=1.119-5.709, P=0.022, recessive model: aOR=2.729, 95% CI=1.141-6.048, P=0.010; CX3CR1 745G/A, additive model: aOR=2.614, 95% CI=1.231-6.012, P=0.020, recessive model: aOR=2.340, 95% CI=1.227-5.993, P=0.011; VEGFA +674C/T, additive model: aOR=1.601, 95% CI=1.253-2.179, P<0.001, dominant model: aOR=1.287, 95% CI=1.058-1.570, P<0.001, allele model: OR=1.220, 95% CI=1.118-1.427, P<0.001; VEGFA +936C/T, additive model: aOR=1.509, 95% CI=1.105-2.311, P<0.001, recessive model: aOR=1.432, 95% CI=1.027-2.192, P=0.009, dominant model: aOR=1.207, 95% CI=1.031-1.514, P0.001, allele model: aOR=1.216, 95% CI=1.062-1.408, P<0.001). 29565837 2018
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE The T280M polymorphism was not associated with either AMD Grades 2-3 or AMD Grades 4 or 5. 22816662 2012
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE No obvious differences were observed in the genotypes of rs3732378</span> polymorphism between case and control groups (P>0.05), but A allele of it could increase the risk of AMD (P=0.025, OR=2.391, 95% CI=1.092-5.237). 26464724 2015
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE Significant evidence for a relationship between T280M and V249I variants in CX3CR1 in the homozygote state with increased susceptibility to AMD was reported. 26305531 2015
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE If replicated in other populations, these findings would support a role for CX3CR1 in AMD but also suggest that its role may involve mechanisms that are independent of the T280M/V249I variations. 24287500 2014
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.090 GeneticVariation BEFREE CX3CR1 V249I and T280M and the HTRA1 promoter SNP were significantly associated with the risk of exudative AMD. 20538655 2010
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polymorphisms, V249I and T280M, linked to a lower risk of other inflammatory diseases such as coronary artery disease (CAD) and asthma. 20523302 2011
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE The genotypes of the V249I and T280M polymorphisms were determined in 1152 patients with suspected CAD.720 (62.5%) individuals showed significant CAD with an ACS prevalence of 59.3%. 15886814 2005
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 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
dbSNP: rs3732378
rs3732378
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE The analysis showed that the 280M allele carriers of the CX3CR1 T280M polymorphism decreased the risk of AS and coronary artery disease (CAD) in the heterozygous state but increased the risk of ischemic cerebrovascular disease (ICVD) in the homozygote state. 25221380 2014