趋化因子受体CX3CR1基因多态性与扩张型心肌病相关性研究

CX3CR1 Polymorphism in Patients with Dilated Cardiomyopathy

目的研究扩张型心肌病(DCM)与趋化因子受体CX3CR1基因多态性的相关性,探讨DCM患者的遗传学发病机制。方法采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)方法测定211例DCM患者和211例正常对照者CX3CR1基因rs3732378(V249I)和rs3732379(T280 M)位点的单核苷酸多态性,比较DCM组与对照组之间在基因型频率、等位基因频率方面差异有无统计学意义。结果CX3CR1基因rs3732378和rs3732379位点基因型、等位基因频率在DCM组与正常对照组之间差异均无统计学意义。结论本研究未发现CX3CR1基因rs3732378和rs3732379位点多态性与DCM相关。

Objective To investigate the association between CX3CR1 gene polymorphism and dilated cardiomyopathy（DCM）.Methods Two single nucleotide polymorphisms（SNP） rs3732378（V249I） and rs3732379（T280M） in CX3CR1 gene were determined using PCR-RFLP.The frequencies of genotype and allele of these two SNPs were compared between 211 DCM patients and 211 normal controls.Results The genotype distribution of these two SNPs had no deviation from Hardy-Weinberg equilibrium either in DCM patients or in the controls.No significant difference was found in the frequencies of genotype and allele in rs3732378 and rs3732379 between the DCM patients and the controls.Conclusion CX3CR1 gene polymorphism is not associated with DCM.