中文摘要：

目的探讨CCR2基因单核苷酸多态性（SNP）位点V64I（rs1799864）与儿童噬血性淋巴组织细胞增生症（HLH）发病的关联性。方法收集2007年1月至2013年12月确诊为HLH的86例患儿的临床资料,采用SNaPshot基因分型技术对HLH患儿和128例健康对照进行CCR2基因rs1799864位点分型,比较两组该SNP位点基因型和等位基因频率的差异;以及HLH患儿不同临床特征与rs1799864位点基因型分布的关系。结果与对照组相比,HLH组rs1799864位点的基因型和等位基因频率差异均无统计学意义（均P〉0.05）;就发病年龄是否〈1岁、治疗后1 d体温是否恢复正常及治疗后2~3周血小板是否恢复正常等不同临床特征的HLH患儿基因型分布进行比较后发现差异均具有统计学意义（均P〈0.05）。结论 CCR2基因rs1799864位点多态性与儿童HLH的发病无关,但其基因型不同可能与HLH患儿的临床表现及预后有关。

英文摘要：

Objective To investigate the association between rs1799864 single nucleotide polymorphism（SNP） of the C-C chemokine receptor 2（CCR2） gene and susceptibility of hemophagocytic lymphohistiocytosis（HLH） in children. Methods The clinical and laboratory data of 86 children diagnosed with HLH between January 2007 and December 2013 were retrospectively reviewed. The CCR2 gene rs1799864 was genotyped by SNa Pshot technique in 86 HLH children and 128 healthy controls. The genotypic and allelic frequencies in the two groups were comparatively analyzed. Results No significant difference either in genotypic or allelic frequencies of rs1799864 polymorphism of the CCR2 gene was observed between HLH patients and controls（P〉0.05）, but there were significant differences in the age of onset and the periods of temperature and platelet returning to normal after treatment（P〈0.05）. Conclusions There is no association between CCR2 gene rs1799864 polymorphism and the risk for HLH in children. However, the genotypic differences of this polymorphism might be associated with clinical characteristics and prognosis of HLH.