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基于广东地区汉族人群的TM4SF4基因与胆结石的遗传学关联研究
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作者 莫大超 李君久 +3 位作者 彭亮 刘志远 王杰云 袁积汝 《合肥医科大学学报》 2019年第6期646-650,共5页
目的探讨基于广东地区汉族人群TM4SF4基因与胆囊结石的遗传关联性。方法基于广东地区汉族群体的580名胆结石患者和1140名健康对照,调查覆盖整个TM4SF4基因区域的12个单核苷酸多态性位点(SNP)基因型在胆结石病例和健康对照组中的分布情况... 目的探讨基于广东地区汉族人群TM4SF4基因与胆囊结石的遗传关联性。方法基于广东地区汉族群体的580名胆结石患者和1140名健康对照,调查覆盖整个TM4SF4基因区域的12个单核苷酸多态性位点(SNP)基因型在胆结石病例和健康对照组中的分布情况,从而对其遗传学关联性进行分析。结果在我们所选择的12个SNP中,只有rs9843304位点与胆结石的疾病状态的关联具有统计学意义(OR=1.27,P=0.001)。rs9843304位点的C等位基因可以显著的提高胆结石在人群中的发病危险度。而随后针对4种血脂指标与rs9843304位点的关联分析则并未获得具有统计学意义的结果。结论rs9843304位点对于广东地区汉族人群胆结石疾病的影响可能是独立的遗传学因素。 展开更多
关键词 单核苷酸多态性 tm4sf4基因 胆结石 关联分析 连锁不平衡
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TM4SF1 as a Prognostic Biomarker and Therapeutic Target in Cervical Cancer
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作者 Jue-xiao Deng Lan-yue Zhang +3 位作者 Zhu-qing Ouyang Ting Guo Fu-jin Shen Hong-yun Zheng 《Current Medical Science》 2025年第6期1367-1381,共15页
Objective Accumulating evidence suggests that transmembrane 4 L6 family member 1(TM4SF1)is associated with the development of various cancers;yet comprehensive studies on TM4SF1 in cervical cancer are lacking.Therefor... Objective Accumulating evidence suggests that transmembrane 4 L6 family member 1(TM4SF1)is associated with the development of various cancers;yet comprehensive studies on TM4SF1 in cervical cancer are lacking.Therefore,we aimed to evaluate the prognostic value of TM4SF1 in cervical cancer,elucidate its potential oncogenic functions in this disease,and further explore its feasibility as a therapeutic target.Methods The expression profiles and clinical information of cervical cancer patients were obtained from The Cancer Genome Atlas(TCGA)database.The expression levels of TM4SF1 were compared between cervical cancer and normal cervical tissues using the Wilcoxon rank-sum test.Kaplan–Meier analysis was employed to assess the prognostic value of TM4SF1.Furthermore,functional enrichment analyses were performed to explore the associated signaling pathways and biological functions.The methylation status of TM4SF1 was analyzed using the UALCAN and MethSurv databases.In addition,in vitro experiments were conducted to preliminarily validate the role and mechanisms of TM4SF1 in cervical cancer.Results TM4SF1 was overexpressed in nearly all tumors,and its overexpression was associated with poor prognosis in cervical cancer.Moreover,the correlation between TM4SF1 expression and the expression of immune cell infiltration markers and immune checkpoint genes suggested that it had potential applications in cancer immunotherapy.Western blot analysis and immunohistochemistry revealed significantly elevated protein levels of TM4SF1 in cervical cancer tissues and cells.Further studies revealed that the knockdown of TM4SF1 significantly inhibited the migration,invasion,and epithelial-mesenchymal transition(EMT)of HeLa and SiHa cells,as well as promoted their apoptosis.Conclusion TM4SF1 may serve as a potential prognostic biomarker and therapeutic target for cervical cancer. 展开更多
关键词 Transmembrane 4 L6 family member 1(TM4SF1) Cervical cancer Biomarker Therapeutic target Invasion and migration Epithelial-mesenchymal transition(EMT) Immunotherapy DNA methylation
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