中文摘要：

目的探讨Toll-样受体4（TLR4）基因单核苷酸多态性（SNP）与中国汉族患者脓毒症发生风险、严重程度以及预后的相关性。方法103例术后发生脓毒症的患者作为脓毒症组，另取术后未发生脓毒症患者114例为对照组，汉族，性别不限，年龄18～80岁。采集患者外周静脉血样，EDTA抗凝，采用基质辅助激光解吸附电离飞行时间质谱法检测TLR4基因SNPs rs10759932、rsl 1536889和rs2737190的基因型。采用logistic回归分析校正性别、年龄、基础疾病和手术方式的影响，评价SNPs基因型与脓毒症发生、器官功能障碍、脓毒性休克和死亡的相关性，计算比值比（OR）及95％可信区间（cI）。结果与对照组比较，脓毒症组rs10759932基因型频率构成比差异有统计学意义（P〈0．05），其他2个SNPs基因型频率构成比差异无统计学意义（P〉0．05）。rs10759932与脓毒症的发生相关，其突变等位基因型（TC＋CC基因型）增加脓毒症发生风险（OR为1．86，95％CI为1．17～2．97，P〈0．05）。3个SNPs基因型与脓毒症相关器官功能障碍、脓毒性休克和死亡均无相关性（P〉O．05）。结论TLR4基因rs10759932突变等位基因与中国汉族患者术后发生脓毒症的风险增加相关。

英文摘要：

Objective To investigate the correlation between Toll-like receptor 4 （TLR4） single nucleotide polymorphism （SNP） and the risk, severity and outcome of sepsis in Chinese patients of Han nationality. Methods One hundred and three Han nationality patients who developed sepsis after surgery, aged 18-80 yr,were enrolled in sepsis group, and 1 ld Han nationality patients without sepsis after surgery, aged 18-80 yr, were enrolled in control group. Venous blood samples were taken from peripheral vein and three SNPs rs10759932, rs11536889 and rs2737190 in TLR4 gene were genotyped by matrix assisted laser desorption ionization time of flight mass spec- trometry analysis. Correction for logistic regression analysis was made to eliminate the effects of sex, age, underly- ing diseases and operation methods. The correlation between genotypes of SNP and occurrence of sepsis, organ dys- function, septic shock and death from sepsis was analyzed. The odds ratio （OR） and 95% confidence interval （CI） were calculated. Results Compared with control group, there was significant difference in genotype frequen- cy ratio of rs10759932 （ P 〈 0.05）, but there was no significant difference in genotype frequency ratio of the other two SNPs in sepsis group （P 〉 0.05）. There was correlation between rs10759932 and the occurrence of sepsis, and the variant allele （CT＋ CC genotypes） of rs10759932 increased risk of sepsis （OR = 1.86, 95% CI [ 1.17- 2.97, P 〈 0.05）. There was no correlation between the three SNPs and sepsis-related organ dysfunction, septic shock and death from sepsis （ P 〉 0.05 ）. Conclusion There is correlation between the variant allele of TLR4 rs10759932 and increase in risk of sepsis after surgery in Chinese patients of Han nationality.