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  • Title: Lack of association between CX3CR1 V249I and T280M polymorphisms and risk of Parkinson's disease in a Greek population.
    Author: Kalinderi K, Bostantjopoulou S, Katsarou Z, Clarimón J, Fidani L.
    Journal: Genet Test Mol Biomarkers; 2012 Aug; 16(8):974-7. PubMed ID: 22747084.
    Abstract:
    Mechanisms that mediate inflammatory responses may be crucial in Parkinson's disease (PD) pathogenesis. In the brain, the chemokine receptor CX3CR1 is exclusively expressed in microglia, selectively mediating microglia-neuron interaction in response to its ligand, the chemokine fractalkine. Two functional single nucleotide polymorphisms, V249I and T280M, in the coding sequence of the CX3CR1 receptor have been found to alter ligand-receptor affinity. The aim of this study was to investigate the genetic role of CX3CR1 in sporadic PD. We examined the V249I and T280M CX3CR1 polymorphisms in a case-control study of 176 sporadic PD patients and 115 controls. Polymerase chain reaction-restriction fragment length polymorphism analysis was performed for the detection of the studied CX3CR1 genotypes. This is the first study that tests CX3CR1 gene polymorphisms in patients with PD. We found no differences in genotype or haplotype frequencies between PD patients and controls, suggesting that CX3CR1 V249I and T280M polymorphisms do not increase susceptibility to PD. Additional studies should further investigate the CX3CL1-CX3CR1 axis in PD.
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