Kalinderi Kallirhoe, Bostantjopoulou Sevasti, Katsarou Zoe, Clarimón Jordi, Fidani Liana
Department of General Biology, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Genet Test Mol Biomarkers. 2012 Aug;16(8):974-7. doi: 10.1089/gtmb.2011.0330. Epub 2012 Jun 29.
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.
介导炎症反应的机制可能在帕金森病（PD）发病机制中起关键作用。在大脑中，趋化因子受体CX3CR1仅在小胶质细胞中表达，可选择性地介导小胶质细胞与神经元之间对其配体——趋化因子fractalkine的相互作用。已发现CX3CR1受体编码序列中的两个功能性单核苷酸多态性V249I和T280M可改变配体-受体亲和力。本研究的目的是调查CX3CR1在散发性PD中的遗传作用。我们在一项针对176例散发性PD患者和115名对照的病例对照研究中检测了CX3CR1的V249I和T280M多态性。采用聚合酶链反应-限制性片段长度多态性分析来检测所研究的CX3CR1基因型。这是第一项检测PD患者中CX3CR1基因多态性的研究。我们发现PD患者与对照之间的基因型或单倍型频率没有差异，这表明CX3CR1的V249I和T280M多态性不会增加患PD的易感性。进一步的研究应深入探究PD中的CX3CL1-CX3CR1轴。
