肿瘤坏死因子受体相关因子6基因多态性与脓毒症易感性研究

No association between the polymorphisms of TRAF6 gene and the susceptibility to sepsis in the HAN nationality of China

目的 探讨肿瘤坏死因子受体相关因子6（TRAF6）基因多态性位点与脓毒症发生风险及疾病严重程度的关联性.方法 采用HapMap单倍型标签SNPs（htSNPs）策略和SNPstream分型方法,对255例脓毒症患者和260例对照个体进行分型.采用Logistic回归分析,校正性别、年龄、吸烟、饮酒、慢性病状态、APACHEⅡ评分和脓毒症病因等混杂因素,评价TRAF6多态性位点与脓毒症的发生风险,以及脓毒症性休克、死亡和器官功能障碍的遗传相关性.结果 TRAF6基因在中国人群中共捕获7个htSNPs.rs5030490,rs5030411,rs5030416,rs5030445和rs3740961最终用于分型研究.5个htSNPs位点在病例和对照组中的基因型分布均呈哈-温平衡状态.TRAF6多态性位点与脓毒症的发生风险和疾病严重程度均无明显相关性.结论 在中国人群中,TRAF6基因多态性位点在脓毒症的发生、发展和病程转归中可能不发挥重要作用.

Objective To explore the association between tumor necrosis factor receptor associated factor 6 （TRAF6） polymorphisms and the susceptibility to sepsis. Method Haplotype tagging single nucleotide polymorphisms （htSNPs） were selected from the HapMap database. The htSNPs were genotyped in 255 patients with sepsis and 260 control subjects by the Beckman SNP stream genotyping platform. The association with susceptibility to and severity of sepsis were estimated by logistic regression with adjustment for age, sex, smoking, drinking,chronic diseases status, APACHE Ⅱ score and critical illness. Results Of 13 TRAF6 ANPs, 7 were tagged by htSNPs. Of them, 5 htSNPs （rs5030496, rs5030411, rs5030416, rs5030445 and rs3740961） were used for final genotyping analysis. Genotype frequencies of those htSNPs were conformed to the Hardy-Weinberg law in both patients and controls. There were no significant association found between the 5 htSNPs and susceptibility to sepsis.Also, there was no significant association between the TRAF6 polymorphisms and the septic shock, death from sepsis as well as organ dysfunction. Conclusions The TRAF6 gene polymorphisms might not play a major role in severity of sepsis.