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A CX3CR1 genotype associated with retinal vasculitis in patients in the United Kingdom
Graham R Wallace1, Robert W Vaughan, Elly Kondeatis
1Department of Ophthalmology, Guy's, King's and St. Thomas' Hospital Medical Schools, London, UK. g.r.wallace@bham.ac.uk
Insights
Genetic variations in the chemokine receptor CX3CR1 are linked to retinal vasculitis (RV) in UK patients. Specifically, the T280M polymorphism and associated haplotypes show a higher prevalence in individuals with RV.
Area of Science:
- Immunogenetics
- Ophthalmology
- Molecular Biology
Background:
- The chemokine receptor CX3CR1 plays a role in leukocyte adhesion and neuronal protection.
- Polymorphisms in CX3CR1 can alter its functional ligand-binding activity.
- Retinal vasculitis (RV) is an inflammatory condition affecting the blood vessels of the retina.
Purpose of the Study:
- To investigate the association between CX3CR1 gene polymorphisms and retinal vasculitis (RV) in a UK cohort.
- To determine if specific CX3CR1 variants (V249I and T280M) are risk factors for developing RV.
Main Methods:
- DNA was extracted from 126 RV patients and 95 healthy controls.
- Two CX3CR1 polymorphisms (V249I and T280M) were analyzed using multiplex PCR-SSP.
- Haplotype analysis was performed to assess combinations of polymorphisms.
Main Results:
- No significant difference in V249 or I249 variant prevalence between RV patients and controls.
- The T280M variant was significantly more prevalent in RV patients (P=0.01).
- The IV/MT haplotype (P=0.006) and I249/M280 haplotype (P=0.01) were more common in RV patients. The 280M variant was associated with nonischemic RV (P=0.009).
Conclusions:
- CX3CR1 gene polymorphisms associated with reduced ligand binding are linked to RV in UK patients.
- Altered CX3CR1-CX3CL1 interaction may contribute to the pathogenesis of retinal vasculitis.
- These findings suggest a potential role for CX3CR1 in the inflammatory processes underlying RV.
Purpose:
To investigate whether polymorphisms in the gene encoding the chemokine receptor CX3CR1, which has been linked to changes in functional ligand-binding activity, are associated with retinal vasculitis (RV) in a cohort of patients in the United Kingdom.
Methods:
DNA was prepared from whole blood of 126 patients with RV and 95 healthy individuals by a standard salting-out procedure. Two polymorphisms, V249I and T280M, were analyzed by multiplex polymerase chain reaction-sequence-specific primers (PCR-SSPs).
Results:
There was no significant difference between the prevalence of V249 or I249 variants in patients with RV or in control subjects. By contrast, the 280M variant was significantly raised in patients compared with control subjects (P=0.01), the IV/MT haplotype was also more prevalent in patients with RV than in control subjects (P=0.006), and the I249/M280 haplotype was associated with retinal vasculitis (P=0.01). The 280M variant was significantly associated with the nonischemic form of RV compared with healthy control subjects (P=0.009).
Conclusions:
Polymorphisms related to a functional decrease in ligand binding activity of CX3CR1 are associated with disease in U.K. patients with retinal vasculitis. CX3CR1 and its ligand CX3CL1 have been implicated in leukocyte adhesion and neuronal protection. Changes in the activity of this interaction may have a role in the pathogenesis of RV.
