CD14启动子-159位点基因多态性与广州汉族儿童脓毒症的相关性研究

目的研究广州地区汉族儿童脓毒症患儿CD14启动子-159位点基因多态性分布特征，探讨该位点多态性与脓毒症的关系。方法对224名汉族儿童健儿童体检及135例脓毒症患儿，采用限制性片段长度多态性聚合酶链反应法进行基因型分析。结果健康体检儿童CD14（-159）多态性有3种基因型：TT、CT、CC，基因频率分别为17．85％、40．63％和41．52％，T等位基因频率61．8oA，C等位基因频率38．2％与我国健康汉族成年比较，CD14基因多态性差异存在显著性（P〈0．05）；脓毒症组基因频率分别为：17．77％、55．56％、26．67％，T等位基因频率45．6％，C等位基因频率54．4％），脓毒症组的基因型频率、等位基因频率与对照组比较差异有统计学意义（P均〈0．05）。结论CD14基因启动子-159位点基因多态性与广州地区汉族儿童脓毒症患儿有相关性，T等位基因可能是其遗传危险因素。

Objectives To investigate the distribution of CD14 promoter gene-C-159T polymorphism in Guangdong Han population of China and analyze the association of CD14 polymorphisms with systemic inflammatory response syndrome （sepsis）. Methods Geno types of CD14 were determined in 135 sepsis patients and 224 controls by polymerase chain reactionrestriction fragment length polymorphism. Results CD14 promoter-159 genotype frequencies of CC,CT and TT in sepsis group were 26.67% 、55.56%、17.77%, popula tions. CD14 gene polymorphisms had significant difference for Adult（P〈0.05）;and in normal control group were 41.52 %、 40.63% 、 17.85 %. Genotype distribution was in accordance with Hardy Weinberg equilibrium. There existed statistically significant difference in frequencies of genotype and allele in CD14 C-159T polymorphism between sepsis group and control group. Conclusion There existed statistically significant correlation of CD14 gene promoter region-159 polymorphism with sepsis among Han children population in Guangdong;The T allele of the C-159T polymorphism of CD14 gene may be a risk factor for sepsis in Han children population.