Abstract: Objective To investigate the relationship between the polymorphism in fractalkine receptor CX3CR1 gene and inflammation mediators including NF-κB, FKN, IL-6 and TNF-α in diabetic nephropathy (DN) patients. Methods By polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP) and sequencing methods, the V249I polymorphism in CX3CR1 gene was determined in 80 DN patients, 119 diabetes mellitus (DM) patients and 118 control individuals. The genotype frequency of V249I polymorphism in CX3CR1 gene was compared among the groups. Serum levels of NF-κB, FKN, IL-6, and TNF-α were measured. Results The allele frequency of V249I polymorphism was higher in control group (20.33%) than in DN group (8.75%; χ2=9.698, P=0.002) and DM group (17.23%; P< 0.05). Serum levels of NF-κB, FKN, IL-6, TNF-α were higher in DN group than in DM and were higher in DM group than in control group (F=23.318, P<0.001 for NF-κB; F=52.507, P<0.001 for FKN; F=8.821, P=0.001 for IL-6; F=12.013, P＜0.001 for TNF-α). In the DN and DM groups, serum FKN increased significantly in patients carrying V/I or I/I genotype than those carrying V/V genotype (F=21.216; P=0.000); serum NF-κB decreased obviously in those carrying V/I or I/I genotype than those carrying V/V genotype (F=15.361; P=0.000); serum IL-6 was unchanged among the patients carrying different genotypes (V/I, I/I and V/V genotypes) (F=1.387; P=0.053). Conclusion The V249I allele in fractalkine receptor CX3CR1 gene may associate with a lower risk of diabetic
nephropathy. This polymorphism in CX3CR1 gene may be involved in the pathogenesis of DN through involving inflammation processes.