Septic shock is a severe form of sepsis characterized by high global mortality rates and significant heritability. Clinicians have long been perplexed by the differential expression of genes, which poses challenges for early diagnosis and prompt treatment of septic shock. Genetic polymorphisms play crucial roles in determining susceptibility to, mortality from, and the prognosis of septic shock. Research indicates that pathogenic genes are known to cause septic shock through specific alleles, and protective genes have been shown to confer beneficial effects on affected individuals. Despite the existence of many biomarkers linked to septic shock, their clinical use remains limited. Therefore, further investigation is needed to identify specific biomarkers that can facilitate early prevention, diagnosis and risk stratification. Septic shock is closely associated with multiple signaling pathways, including the toll-like receptor 2/toll-like receptor 4, tumor necrosis factor-α, phosphatidylinositol 3-kinase/protein kinase B, mitogen-activated protein kinase, nuclear factor κB, Janus kinase/signal transducer and activator of transcription, mammalian target of rapamycin, NOD-like receptor thermal protein domain-associated protein 3 and hypoxia-induced-factor-1 pathways. Understanding the regulation of these signaling pathways may lead to the identification of therapeutic targets for the development of novel drugs to treat sepsis or septic shock. In conclusion, identifying differential gene expression during the development of septic shock allows physicians to stratify patients according to risk at an early stage. Furthermore, auxiliary examinations can assist physicians in identifying therapeutic targets within relevant signaling pathways, facilitating early diagnosis and treatment, reducing mortality and improving the prognosis of septic shock patients. Although there has been significant progress in studying the genetic polymorphisms, specific biomarkers and signaling pathways involved in septic shock, the journey toward their clinical application and widespread implementation still lies ahead.

中文翻译：

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与感染性休克相关的基因多态性、生物标志物和信号通路：从诊断到治疗目标

脓毒性休克是脓毒症的一种严重形式，其特征是全球死亡率高和遗传性显着。基因的差异表达长期以来一直困扰着临床医生，这给感染性休克的早期诊断和及时治疗带来了挑战。遗传多态性在确定感染性休克的易感性、死亡率和预后方面发挥着至关重要的作用。研究表明，已知致病基因可通过特定等位基因引起感染性休克，而保护性基因已被证明可为受影响的个体带来有益的影响。尽管存在许多与感染性休克相关的生物标志物，但它们的临床应用仍然有限。因此，需要进一步研究以确定可以促进早期预防、诊断和风险分层的特定生物标志物。感染性休克与多种信号通路密切相关，包括Toll样受体2/Toll样受体4、肿瘤坏死因子-α、磷脂酰肌醇3-激酶/蛋白激酶B、丝裂原激活蛋白激酶、核因子κB、Janus激酶/信号转导器和转录激活剂、雷帕霉素的哺乳动物靶标、NOD 样受体热蛋白结构域相关蛋白 3 和缺氧诱导因子 1 通路。了解这些信号通路的调节可能有助于确定治疗靶点，从而开发治疗脓毒症或脓毒性休克的新药。总之，识别感染性休克发展过程中的差异基因表达可以让医生在早期根据风险对患者进行分层。此外，辅助检查可以帮助医生确定相关信号通路内的治疗靶点，促进感染性休克患者的早期诊断和治疗，降低死亡率并改善预后。尽管在感染性休克涉及的基因多态性、特定生物标志物和信号通路的研究方面取得了重大进展，但其临床应用和广泛实施的旅程仍然漫长。