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Identification of Haplotype Tag Single-Nucleotide Polymorphisms within the PPAR Family Genes and Their Clinical Relevance in Patients with Major Trauma

机译:重大创伤患者PPAR家族基因内单倍型标签单核苷酸多态性的鉴定及其临床意义

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摘要

Background: Peroxisome proliferator-activated receptors (PPARs) play important roles in the development of inflammatory diseases and sepsis. Recently, genetic variants of PPARs genes have been widely studied in some inflammatory diseases. However, the association between PPAR family of genes polymorphisms and sepsis risk in trauma patients was little known. Methods: SNPs were selected from the PPARs genes through constructing haplotype blocks and genotyped by the improved multiplex ligation detection reaction (iMLDR) method. The association between the selected SNPs and the risk of sepsis and multiple organ dysfunction (MOD) scores was evaluated in 734 trauma patients. In addition, tumor necrosis factor α (TNFα) production of peripheral blood leukocytes was also analyzed after lipopolysaccharide (LPS) stimulation. Results: Our results revealed that there were significant associations between the rs10865710 polymorphism and the risk of sepsis and MOD scores in Chinese Han trauma patients. Further, we found that the level of TNFα production was higher in patients with the rs10865710 G allele compared to those with the variant C allele. Conclusions: The rs10865710 polymorphism in the PPARγ gene might be used to assess the risk of sepsis and multiple organ dysfunction syndrome (MODS) in trauma patients.
机译:背景:过氧化物酶体增殖物激活受体(PPAR)在炎症性疾病和败血症的发生中起重要作用。近年来,在一些炎症性疾病中已经广泛研究了PPARs基因的遗传变异。然而,外伤患者中PPAR基因多态性家族与败血症风险之间的关联尚不清楚。方法:通过构建单倍型模块,从PPARs基因中选择SNP,并通过改进的多重连接检测法(iMLDR)进行基因分型。在734名创伤患者中评估了所选SNP与败血症和多器官功能障碍(MOD)评分风险之间的关联。另外,在脂多糖(LPS)刺激后,还分析了外周血白细胞的肿瘤坏死因子α(TNFα)的产生。结果:我们的结果显示,rs10865710多态性与中国汉族创伤患者的败血症风险和MOD评分之间存在显着相关性。此外,我们发现rs10865710 G等位基因患者的TNFα产生水平高于变异C等位基因患者。结论:PPARγ基因的rs10865710多态性可用于评估创伤患者败血症和多器官功能障碍综合征(MODS)的风险。

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