背景 interleukin-1 (IL-1 ) 联系受体的 kinase (IRAKI ) 1 被相信在败血的致病起一个重要作用。最近的研究建议了 IRAK1 功能的基因变体能在白种人影响败血的严厉。在这份报告,我们调查了在 IRAK1 基因的多型性是否与危险性被联系到并且在中国人口之中的败血的严厉。方法标注 Haplotype 单个核苷酸多型性(htSNPs ) 从 HapMap database.They 被选择由 PCR/restriction 是在有败血和 260 个控制题目的 255 个病人的 genotyped 碎片长度多型性(RFLP ) 分析。在选择 htSNPs 和危险性和败血的严厉到之间的协会好久被逻辑回归与调整估计,性,吸烟、喝的、长期的疾病地位,尖锐生理学和长期的健康评估(APACHE ) 分数和主要疾病。结果 rs1059702 被选择为 IRAK1 代表六连接 htSNPs。htSNPs 的遗传型频率在为女性的 Hardy-Weinberg 平衡,作为是为两个性组的等位基因频率。协会在在 htSNPs C/C 遗传型之间的女性被观察并且增加了危险性到败血(机会比率(或) , 5.46; 95% 信心间隔(Cl ) , 1.12-26.67;P=0.018 ) ,并且如此的协会也在 IRAK1variant haplotype (CC/C-allele ) 之间被观察并且增加了危险性到败血(或, 1.68;95% Cl, 1.05-2.70;P=0.031 ) 什么时候与 T/T + T/C 遗传型和野类型的 haplotype (TC + TT/T-allele ) 相比。在多重机关机能障碍症候群(MODS ) 亚群,变体 haplotype 也与败血的增加的严厉被联系(或, 2.37;95%Cl, 1.13-4.94;P=0.02 ) 什么时候与野 haplotype 相比。这个协会不在男病人是重要的。结论在 exon 的功能的多型性 5 并且 IRAK1 基因的变体 haplotype 调停危险性到和败血的严厉。IRAK1 可能是为在中国人口的败血的出现和发展的一个基因风险因素。
Background The interleukin-1 (IL-1) receptor-associated kinase 1 (IRAK1) is believed to play an important role in the pathogenesis of sepsis. Recent studies have suggested that the I RAK1 functional genetic variant could affect the severity of sepsis in Caucasians. In this report, we have investigated whether polymorphisms at the IRAK1 gene are associated with the susceptibility to and severity of sepsis among the Chinese population. Methods Haplotype-tagging single nucleotide polymorphisms (htSNPs) were selected from the HapMap database. They.were genotyped in 255 patients with sepsis and 260 control subjects by PCR/restriction fragment length polymorphism (RFLP) analysis. The association between the selected htSNPs and the susceptibility to and severity of sepsis were estimated by Logistic regression with adjustments for age, sex, smoking, drinking, chronic disease status, Acute Physiology and Chronic Health Evaluation (APACHE) II score and primary diseases. Results rs1059702 was selected to represent the six linked htSNPs for IRAKI. Genotype frequencies of the htSNPs were in Hardy-Weinberg equilibrium for females, as were allele frequencies for both sex groups. Associations were observed in females between the htSNPs C/C genotype and increased susceptibility to sepsis (odds ratio (OR), 5.46; 95% confidence interval (C/), 1.12-26.67; P=0.018), and such associations were also observed between the IRAK1 variant haplotype (CC/C-allele) and increased susceptibility to sepsis (OR, 1.68; 95% C/, 1.05-2.70; P=0.031) when compared with the T/T + T/C genotype and the wild-type haplotype (TC + TT/T-allele). In the multiple organ dysfunction syndrome (MODS) subgroup, the variant haplotype was also associated with increased severity of sepsis (OR, 2.37; 95% Cl, 1.13-4.94; P=-0.02) when compared with the wild haplotype. This association was not significant in male patients. Conclusions The functional polymorphism in exon 5 and the variant haplotype of IRAK1 gene mediat