CDH1基因变异C > A （rs16260）与宫颈癌放化疗患者的表达和治疗结果的关系

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-09-19 DOI:10.1016/j.genrep.2025.102344

Shireen Masood , Atar Singh Kushwah , Kirti Srivastava , Monisha Banerjee

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引用次数: 0

摘要

CDH1基因启动子变异C >； A （rs16260）与e -钙粘蛋白下调有关，e -钙粘蛋白会损害上皮完整性，并与各种癌症的不良预后有关。本研究探讨了印度人群中cdh1c >； A变异与基因表达的关系及其作为宫颈癌预后生物标志物的潜力。方法对107例宫颈癌患者和96例年龄匹配的健康对照者进行病例对照研究。采用PCR-RFLP对CDH1 C >； A （rs16260）变异进行基因分型，并通过qPCR分析基因表达。Kaplan-Meier和Cox回归分析将基因型和基因表达与治疗反应和生存结果相关联。采用QUANTO （v.1.2）、GraphPad Prism （v. 10）、SPSS （v. 25）进行统计分析。结果CDH1变异的CA和CA + AA基因型与宫颈癌发病风险有显著相关性（P = 0.011和P = 0.004）。宫颈癌患者与对照组相比，CDH1基因表达明显下调（P = 0.023）。虽然CA基因型对复发和治疗毒性具有保护作用（P <； 0.001和P = 0.050分别），但CC基因型与毒性和复发增加有关。CA基因型患者的总生存期有提高的趋势（中位27个月vs. 19个月；HR < 1），但无统计学意义（P = 0.079）。结论cdh1c >； A （rs16260）变异可能是预测宫颈癌毒性和复发的预后生物标志物，对个性化治疗策略具有指导意义。然而，需要在更大、更多样化的人群中进行进一步的研究来验证这些发现。

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Association of CDH1 gene variant C > A (rs16260) with expression and treatment outcomes in cervical cancer patients receiving chemoradiotherapy

Background

The CDH1 gene promoter variant C > A (rs16260) is associated with downregulation of E-cadherin, which compromises epithelial integrity and has been linked to poor prognosis in various cancers. This study investigates the association of the CDH1 C > A variant with gene expression and its potential as a prognostic biomarker for cervical cancer in an Indian population.

Methods

This case-control study involved 107 cervical cancer patients and 96 age-matched healthy controls. Genotyping of the CDH1 C > A (rs16260) variant was performed using PCR-RFLP, and gene expression was analyzed through qPCR. Kaplan-Meier and Cox regression analyses were used to correlate genotypes and gene expression with treatment response and survival outcomes. Statistical analysis was conducted using QUANTO (v.1.2), GraphPad Prism (v. 10), SPSS (v. 25).

Results

The CA and CA + AA genotypes of the CDH1 variant were significantly associated with cervical cancer risk (P = 0.011 and P = 0.004, respectively). CDH1 gene expression was significantly downregulated in cervical cancer patients compared to controls (P = 0.023). While the CA genotype was protective against recurrence and treatment toxicity (P < 0.001 and P = 0.050, respectively), the CC genotype was linked to increased toxicity and recurrence. CA genotype shows a trend toward better overall survival (median 27 vs. 19 months; HR < 1), though not statistically significant (P = 0.079).

Conclusion

The CDH1 C > A (rs16260) variant may be a prognostic biomarker to predict toxicity and recurrence of cervical cancer, with implications for personalized treatment strategies. However, further studies in larger, more diverse cohorts are necessary to validate these findings.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.