| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||||
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 | |||||
Age related macular degeneration
|
0.080 | GeneticVariation | BEFREE | T allele of rs3732379 might have a positive association with the susceptibility of AMD. | 26464724 | 2015 | |||||
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 | |||||
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 | |||||
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 | |||||
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 | |||||
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 |