APM-Related gene signature model to predict prognosis and immunotherapy response in hepatocellular carcinoma.

IF 3.8 2区生物学 Q2 GENETICS & HEREDITY

Human Genetics Pub Date : 2025-05-27 DOI:10.1007/s00439-025-02753-x

Shangdi Zhang, Kewei Du, Shan Gao, Zejing Liu, Linmei Chen, Xue Wu, Linjing Li

引用次数: 0

Abstract

Hepatocellular carcinoma (HCC) is a primary liver malignancy with a dismal prognosis. This study established and validated a prognostic model based on antigen-processing and presenting machinery (APM)-related genes through Mendelian randomization and publicly available datasets. Systematic analysis revealed CXCL5, SGPP2, and GLP1R as critical prognostic biomarkers, which were subsequently integrated into a risk model. The model demonstrated significant associations with pathways linked to bile acid, fatty acid, and amino acid metabolism, alongside variations in immune cell infiltration and genomic mutations, including TTN, TP53, and MUC16. Patient stratification into high- and low-risk groups indicated that low-risk individuals exhibited reduced immune infiltration, potentially correlating with enhanced immunotherapy sensitivity. These findings offer a robust gene signature for HCC prognosis and a framework for evaluating responses to immunotherapy.

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apm相关基因标记模型预测肝细胞癌的预后和免疫治疗反应。

肝细胞癌（HCC）是一种预后不良的原发性肝脏恶性肿瘤。本研究通过孟德尔随机化和公开数据集建立并验证了基于抗原加工和呈递机制（APM）相关基因的预后模型。系统分析显示CXCL5、SGPP2和GLP1R是关键的预后生物标志物，随后将其整合到风险模型中。该模型显示了与胆汁酸、脂肪酸和氨基酸代谢相关的途径的显著相关性，以及免疫细胞浸润和基因组突变的变化，包括TTN、TP53和MUC16。将患者分为高风险和低风险组表明，低风险个体表现出免疫浸润减少，这可能与增强的免疫治疗敏感性相关。这些发现为HCC预后提供了强有力的基因标记，并为评估免疫治疗反应提供了框架。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genetics 生物-遗传学

CiteScore

10.80

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.