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: rs9868689
rs9868689
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: rs750585901
rs750585901
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0036341
Disease:
Schizophrenia
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059 2017
dbSNP: rs750585901
rs750585901
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE We detected a statistically significant association between the variant Ala55Thr in CX3CR1 with SCZ and ASD phenotypes (odds ratio=8.3, P=0.020). 28763059 2017
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 GeneticVariation BEFREE CX3CR1 V249I and T280M and the HTRA1 promoter SNP were significantly associated with the risk of exudative AMD. 20538655 2010
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 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
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 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: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 GeneticVariation BEFREE In this Greek population, after adjusting for known risk factors, increased risk of geographic atrophy (GA) AMD among the carriers of the V249I polymorphism in the CX3CR1 gene was found. 22816662 2012
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 GeneticVariation BEFREE T allele of rs3732379 might have a positive association with the susceptibility of AMD. 26464724 2015
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 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
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 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
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 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: rs3732379
rs3732379
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: rs3732379
rs3732379
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: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 GeneticVariation BEFREE CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with AMD. 25050486 2014
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE The 249I allele carriers of the CX3CR1 V249I polymorphism decreased the risk of AS and CAD in the heterozygous state. 25221380 2014
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 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
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 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: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0242383
Disease:
Age related macular degeneration
0.080 GeneticVariation BEFREE Peripheral blood from 85 AMD patients and 105 subjects without AMD (controls), as well as ocular tissue from 40 pathological sections with AMD and two normal eye sections, were screened for V249I and T280M, two single nucleotide polymorphisms (SNPs) in CX3CR1. 15208270 2004
dbSNP: rs3732379
rs3732379
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: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.030 GeneticVariation BEFREE The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and 280T/M were examined for their association with cardiovascular abnormalities in a cohort of 161 patients with end-stage renal disease (ESRD) treated by hemodialysis. 12846758 2003
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0004153
Disease:
Atherosclerosis
0.030 GeneticVariation BEFREE The present meta-analysis suggests that the CX3CR1 T280M and V249I polymorphisms are associated with the susceptibility to AS. 25221380 2014
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.030 GeneticVariation BEFREE There was significant difference in genotype frequencies of CCR5-G59029A (p = 0.005), and CX3CR1 V249I (p < 0.0001) between ESRD and controls. 21132346 2011
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0004153
Disease:
Atherosclerosis
0.030 GeneticVariation BEFREE CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been associated with interindividual differences in susceptibility to atherosclerosis. 16675737 2006
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0003850
Disease:
Arteriosclerosis
0.030 GeneticVariation BEFREE These data demonstrate possible associations between CX3CR1 V249I and CCR5-59029 A/G polymorphisms and/or HT, DM and AS in CRF subjects. 27118566 2016
dbSNP: rs3732379
rs3732379
Entrez Id: 1524
Gene Symbol: CX3CR1
CX3CR1
CUI: C0003850
Disease:
Arteriosclerosis
0.030 GeneticVariation BEFREE CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been associated with interindividual differences in susceptibility to atherosclerosis. 16675737 2006