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基于下一代测序技术的肺部感染患者基因多态性分析及其预后预测价值

Analysis of gene polymorphisms in patients with pulmonary infections based on next-generation sequencing technology and their prognostic predictive value.

作者信息

Zeng Rui, Wang Guang, Zhou Feng

机构信息

Department of Geriatric Medical Center Ward Two, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.

Department of Blood Transfusion, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.

出版信息

Front Med (Lausanne). 2025 Jul 7;12:1599791. doi: 10.3389/fmed.2025.1599791. eCollection 2025.

DOI:10.3389/fmed.2025.1599791
PMID:40692949
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12277342/
Abstract

Pulmonary infections are a leading cause of morbidity and mortality worldwide, particularly among vulnerable populations such as children and the older adult. Gene polymorphisms play a critical role in disease susceptibility, progression, and prognosis, yet their specific contributions to pulmonary infections remain underexplored. This study utilized next-generation sequencing (NGS) technology to analyze gene polymorphisms in 200 patients with pulmonary infections and evaluate their prognostic value. Key findings include significant associations between polymorphisms in TLR4 (rs4986790), IL-10 (rs1800896), TNF-α (rs1800629), and MBL2 (rs1800450) with infection susceptibility, disease severity, and survival outcomes. Notably, carriers of the TLR4 rs4986790 mutation exhibited increased risk of severe infections and prolonged hospital stays, while IL-10 rs1800896 was linked to higher , particularly respiratory failure and sepsis. A polygenic risk score (PRS) revealed that high-risk patients had significantly elevated and . These results highlight the potential of gene polymorphisms as prognostic biomarkers and personalized treatment targets. Future research should validate these findings in larger, diverse cohorts and explore functional mechanisms.

摘要

肺部感染是全球发病和死亡的主要原因,尤其是在儿童和老年人等弱势群体中。基因多态性在疾病易感性、进展和预后中起着关键作用,但其对肺部感染的具体贡献仍未得到充分探索。本研究利用下一代测序(NGS)技术分析了200例肺部感染患者的基因多态性,并评估了它们的预后价值。主要发现包括TLR4(rs4986790)、IL-10(rs1800896)、TNF-α(rs1800629)和MBL2(rs1800450)基因多态性与感染易感性、疾病严重程度和生存结果之间存在显著关联。值得注意的是,TLR4 rs4986790突变携带者发生严重感染和住院时间延长的风险增加,而IL-10 rs1800896与较高的 相关,尤其是呼吸衰竭和败血症。多基因风险评分(PRS)显示,高危患者的 和 显著升高。这些结果突出了基因多态性作为预后生物标志物和个性化治疗靶点的潜力。未来的研究应在更大、更多样化的队列中验证这些发现,并探索其功能机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/0121fa1aa074/fmed-12-1599791-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/c222ab0f584b/fmed-12-1599791-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/9e6f195b195a/fmed-12-1599791-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/6599e3ce9cbc/fmed-12-1599791-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/0121fa1aa074/fmed-12-1599791-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/c222ab0f584b/fmed-12-1599791-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/9e6f195b195a/fmed-12-1599791-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/6599e3ce9cbc/fmed-12-1599791-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f60a/12277342/0121fa1aa074/fmed-12-1599791-g004.jpg

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The molecular and histopathological investigations of TLR2 rs5743708 and TLR4 (rs4986790 and rs4986791) polymorphisms effects on cutaneous leishmaniasis lesions.
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