肝细胞癌患者硒蛋白基因变异的评价。

IF 1.6 4区生物学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Biochemical Genetics Pub Date : 2025-08-12 DOI:10.1007/s10528-025-11220-1

Andressa de Freitas Alves, Vanessa Dido Baldissera, Tatiane Jacobsen da Rocha, Carlos Thadeu Schmidt Cerski, Paulo Ott Fontes, Márcia Giovenardi, Marilu Fiegenbaum, Silvana Almeida

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引用次数: 0

摘要

肝癌的发生与多种因素有关，包括氧化应激。硒蛋白基因的改变可能破坏氧化还原平衡并影响癌症的发展。在这项研究中，我们旨在评估硒蛋白的单核苷酸变异（SNVs）与肝细胞癌风险的关系。采用定量聚合酶链反应（qPCR）对病例组和健康组进行基因分型，分析snv分别为rs1050450和rs3448 GPX1、rs713041 GPX4、rss5845和rss5859 SEP15、rs7579和rs3877899 SELENOP。病例组和健康组的基因型频率有显著差异(p

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Evaluation of the Variability in Selenoprotein Genes in Hepatocellular Carcinoma Patients.

Hepatocarcinogenesis is associated with various factors, including oxidative stress. Alterations in selenoprotein genes could impair redox balance and influence cancer development. In this study, we aimed to evaluate the association of single nucleotide variants (SNVs) from selenoproteins with hepatocellular carcinoma risk. The case and healthy groups were genotyped using quantitative polymerase chain reaction (qPCR), and the analyzed SNVs were rs1050450 and rs3448 GPX1, rs713041 GPX4, rs5845 and rs5859 SEP15, and rs7579 and rs3877899 SELENOP. Significant differences in genotype frequencies were observed between the case and healthy groups (p < 0.05) for all studied SNVs, except for GPX1 rs3448. Furthermore, G/G rs1050450 GPX1 (OR = 1.975; 95% CI 1.075-3.628; p = 0.028) and homozygous C/C rs7579 SELENOP (OR = 3.088; 95% CI 1.667-5.722; p < 0.001) were associated with an increased risk of hepatocellular carcinoma. Comparisons with 1000 Genomes Project data revealed genotype frequencies similar to those of European descendants. These results could suggest a role of genetic alterations of selenoproteins in hepatocellular carcinoma risk.

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来源期刊

Biochemical Genetics 生物-生化与分子生物学

CiteScore

3.90

自引率

0.00%

发文量

133

审稿时长

4.8 months

期刊介绍： Biochemical Genetics welcomes original manuscripts that address and test clear scientific hypotheses, are directed to a broad scientific audience, and clearly contribute to the advancement of the field through the use of sound sampling or experimental design, reliable analytical methodologies and robust statistical analyses. Although studies focusing on particular regions and target organisms are welcome, it is not the journal’s goal to publish essentially descriptive studies that provide results with narrow applicability, or are based on very small samples or pseudoreplication. Rather, Biochemical Genetics welcomes review articles that go beyond summarizing previous publications and create added value through the systematic analysis and critique of the current state of knowledge or by conducting meta-analyses. Methodological articles are also within the scope of Biological Genetics, particularly when new laboratory techniques or computational approaches are fully described and thoroughly compared with the existing benchmark methods. Biochemical Genetics welcomes articles on the following topics: Genomics; Proteomics; Population genetics; Phylogenetics; Metagenomics; Microbial genetics; Genetics and evolution of wild and cultivated plants; Animal genetics and evolution; Human genetics and evolution; Genetic disorders; Genetic markers of diseases; Gene technology and therapy; Experimental and analytical methods; Statistical and computational methods.