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多态性对中国汉族人群肝癌的影响。

Impact of polymorphisms on liver cancer in a Chinese Han population.

机构信息

Department of Radiation Therapy, Second Affiliated Hospital, Xi'an Jiaotong University, Xi'an, China.

Department of Oncology, Second Affiliated Hospital, Xi'an Jiaotong University, Xi'an, China.

出版信息

Cell Cycle. 2023 May;22(9):1127-1134. doi: 10.1080/15384101.2023.2189766. Epub 2023 Mar 23.

DOI:10.1080/15384101.2023.2189766
PMID:36951273
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10081089/
Abstract

NOTCH1, a member of the Notch family, is up-expression in advanced liver cancer (LC) patients and is associated with tumor sizes, tumor stage, metastasis, and invasion. A few studies have discovered the contribution of NOTCH1 variants to LC risk. Our purpose was to assess the relationship of NOTCH1 rs10521, rs2229971, and rs4489420 to LC risk. We enrolled 709 LC patients and 708 healthy controls. Genotyping was determined through the Agena MassARRAY system. Multiple genetic models by logistic regression were useful for odds ratios (ORs) with 95% confidence intervals (CIs). Rs10521-G (p = 0.009, OR = 0.75, 95% CI: 0.61-0.93), rs2229971-A (p = 0.023, OR = 0.81, 95% CI: 0.67-0.97), and rs4489420-A (p = 0.014, OR = 0.38, 95% CI: 0.16-0.85) might be protective factors for LC occurrence in the Chinese Han population, especially rs10521 and rs2229971 (false-positive report probability (FPRP) <0.2 and statistical power >90%). Interestingly, stratified analysis displayed that the contribution of NOTCH1 polymorphisms to LC risk might be associated with gender, age, smoking, and drinking. Our data first determined that NOTCH1 rs10521-G, rs2229971-A, and rs4489420-A might be protective factors for LC susceptibility.

摘要

NOTCH1 是 Notch 家族的一个成员,在晚期肝癌(LC)患者中呈高表达,与肿瘤大小、肿瘤分期、转移和侵袭有关。一些研究发现 NOTCH1 变体与 LC 风险有关。我们的目的是评估 NOTCH1 rs10521、rs2229971 和 rs4489420 与 LC 风险的关系。我们纳入了 709 例 LC 患者和 708 例健康对照者。通过 Agena MassARRAY 系统进行基因分型。通过逻辑回归的多种遗传模型,对比值比(OR)及其 95%置信区间(CI)进行了分析。rs10521-G(p=0.009,OR=0.75,95%CI:0.61-0.93)、rs2229971-A(p=0.023,OR=0.81,95%CI:0.67-0.97)和 rs4489420-A(p=0.014,OR=0.38,95%CI:0.16-0.85)可能是中国汉族人群 LC 发生的保护因素,尤其是 rs10521 和 rs2229971(假阳性报告概率(FPRP)<0.2,统计功效>90%)。有趣的是,分层分析显示,NOTCH1 多态性对 LC 风险的贡献可能与性别、年龄、吸烟和饮酒有关。我们的数据首次确定 NOTCH1 rs10521-G、rs2229971-A 和 rs4489420-A 可能是 LC 易感性的保护因素。