2014
DOI: 10.1001/jamaophthalmol.2013.5506
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Prospective Study of Common Variants inCX3CR1and Risk of Macular Degeneration

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Cited by 22 publications
(18 citation statements)
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References 55 publications
(60 reference statements)
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“…Furthermore, the research presented here poses important clinical relevance for humans carrying the polymorphic variant CX3CR1 I249/M280 ( CX3CR1 M280 ) estimated in about 20% of the population. These changes in human CX3CR1 decrease FKN affinity (McDermott et al, 2003) and several studies support a role for CX3CR1 M280 in susceptibility to age-related macular degeneration (Tuo et al, 2004; Chan et al, 2005; Brión et al, 2011; Schaumberg et al, 2014). Together, our data suggest a pivotal role for FKN/CX3CR1 signaling in governing microglial responses during insult, and thus modulating CX3CR1 signaling may be relevant alternative approaches to mitigate tissue pathology in the diabetic retina.…”
Section: Discussionmentioning
confidence: 96%
“…Furthermore, the research presented here poses important clinical relevance for humans carrying the polymorphic variant CX3CR1 I249/M280 ( CX3CR1 M280 ) estimated in about 20% of the population. These changes in human CX3CR1 decrease FKN affinity (McDermott et al, 2003) and several studies support a role for CX3CR1 M280 in susceptibility to age-related macular degeneration (Tuo et al, 2004; Chan et al, 2005; Brión et al, 2011; Schaumberg et al, 2014). Together, our data suggest a pivotal role for FKN/CX3CR1 signaling in governing microglial responses during insult, and thus modulating CX3CR1 signaling may be relevant alternative approaches to mitigate tissue pathology in the diabetic retina.…”
Section: Discussionmentioning
confidence: 96%
“…Biochemical studies have suggested that the polymorphic variant CX 3 CR1 I249/M280 exhibits defective adhesive properties, therefore leading to deficits in fractalkine signaling (Faure et al, ; McDermott et al, ). These variants have been associated with multiple neurodegenerative disorders such as age‐related macular degeneration (Chan, Tuo, Bojanowski, Csaky, & Green, ; Schaumberg et al, ), Alzheimer's disease (López‐López, Gelpi, Lopategui, & Vidal‐Taboada, ), and multiple sclerosis (Arli, Irkec, Menevse, Yilmaz, & Alp, ). Based on the evidence of enhanced neuronal damage in the cochlea of CX 3 CR1‐deficient mice, it would be of clinical relevance to dissect the effects of human reference CX 3 CR1 V249/T280 receptor and its polymorphic variant CX 3 CR1 I249/M280 in deaf ears.…”
Section: Discussionmentioning
confidence: 99%
“…27, 28 However, not all studies have confirmed this association 29, 30 and different studies have identified distinct polymorphisms that may be associated with AMD. 31 Polymorphisms in the genes encoding the chemokine receptor CCR3 32 and chemokine CXCL8 (also known as IL-8), 33, 34 which have been implicated in angiogenesis, 35, 36 have also been associated with AMD. Therefore, AMD has been associated with genetic variants of various inflammatory molecules perhaps suggesting that several inflammatory pathways can lead to the same clinical disease.…”
Section: Immunogenetics Of Amdmentioning
confidence: 99%