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预防医学  2025, Vol. 37 Issue (4): 350-355    DOI: 10.19485/j.cnki.issn2096-5087.2025.04.006
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NFKB1LHX2基因多态性与食管癌易感性研究
张闻烙1, 朱琳2, 王岩3, 刘广超1, 王文翔1, 蔡迎彬4
1.新疆医科大学公共卫生学院,新疆 乌鲁木齐 830011;
2.新疆医科大学护理学院,新疆 乌鲁木齐 830011;
3.新疆医科大学附属肿瘤医院肿瘤防治办公室,新疆 乌鲁木齐 830011;
4.新疆医科大学附属肿瘤医院内镜诊疗中心,新疆 乌鲁木齐 830011
Relationship between NFKB1 and LHX2 gene polymorphisms and esophageal cancer susceptibility
ZHANG Wenluo1, ZHU Lin2, WANG Yan3, LIU Guangchao1, WANG Wenxiang1, CAI Yingbin4
1. School of Public Health, Xinjiang Medical University, Urumqi, Xinjiang 830011, China;
2. School of Nursing, Xinjiang Medical University, Urumqi, Xinjiang 830011, China;
3. Cancer Prevention and Treatment Office, the Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, China;
4. Endoscopic Diagnosis and Treatment Center, the Affiliated Tumor Hospital of Xinjiang Medical University, Urumqi, Xinjiang 830011, China
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摘要 目的 探讨核因子κB亚基1(NFKB1)、LIM同源框基因2(LHX2)多态性与食管癌易感性的关联,为食管癌防治提供参考。方法 选择2019—2023年新疆医科大学附属肿瘤医院确诊的原发性食管癌病例100例纳入病例组,1∶1匹配同期健康体检者100人纳入对照组,收集人口学信息、疾病史和生活方式等资料;采用多重高温连接酶检测反应技术检测NFKB1基因单核苷酸多态性rs28362491、rs4648068位点及LHX2基因rs10760310、rs10121751位点;采用多因素条件logistic回归模型、连锁不平衡和单体型分析法分析上述位点与食管癌易感性的关联;采用广义多因子降维法分析上述位点与环境因素的交互作用对食管癌易感性的影响。结果 病例组男性73例,女性27例,年龄为(64.02±8.90)岁;对照组男性73人,女性27人,年龄为(64.54±9.43)岁。rs28362491、rs4648068、rs10760310和rs10121751位点的基因型频率分布符合哈迪-温伯格平衡定律(均P>0.05)。多因素条件logistic回归分析结果显示,LHX2基因rs10760310、rs10121751位点与食管癌易感性有统计学关联(均P<0.05);其中rs10760310位点超显性模型的赤池信息准则值最小,为最优模型(OR=0.22,95%CI:0.10~0.47)。rs4648068、rs10760310和rs10121751位点GAA单体型与较低的食管癌易感性有关(OR=0.26,95%CI:0.13~0.50)。广义多因子降维法分析结果显示,rs10760310位点与吸烟的交互作用对食管癌易感性的影响有统计学意义(P<0.05,交叉验证一致性系数为10/10)。结论 LHX2基因rs10760310、rs10121751位点多态性可能与食管癌易感性有关,rs10760310位点与吸烟对食管癌易感性存在交互作用。
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张闻烙
朱琳
王岩
刘广超
王文翔
蔡迎彬
关键词 食管癌核因子κB亚基1LIM同源框基因2单核苷酸多态性    
AbstractObjective To explore the relationship between nuclear factor-kappa B subunit 1 (NFKB1) and LIM-homeobox gene 2 (LHX2) polymorphisms and esophageal cancer susceptibility, so as to provide the reference for the prevention and treatment of esophageal cancer. Methods A total of 100 patients with primary esophageal cancer diagnosed at the Affiliated Tumor Hospital of Xinjiang Medical University from 2019 to 2023 were selected as the case group, and 100 healthy individuals undergoing physical examination during the same period of time were selected as the control group. Demographic information, disease history and lifestyle data were collected through questionnaire surveys. The single nucleotide polymorphisms at the rs28362491 and rs4648068 loci of NFKB1 gene as well as rs10760310 and rs10121751 loci of LHX2 gene were detected using multiplex high-temperature ligase detection reaction technology. The relationship between these loci and esophageal cancer susceptibility were analyzed using a multivariable conditional logistic regression, linkage disequilibrium and haplotype analysis. The impact of the interaction between the above-mentioned loci and environmental factors on esophageal cancer susceptibility using the generalized multifactor dimensionality reduction (GMDR) method. Results The case group comprised 73 males and 27 females, with a mean age of (64.02±8.90) years. The control group included 73 males and 27 females, with a mean age of (64.54±9.43) years. The genotype distributions of rs28362491, rs4648068, rs10760310 and rs10121751, loci in both groups conformed to Hardy-Weinberg equilibrium (all P>0.05). Multivariable conditional logistic regression analysis showed that rs10760310 and rs10121751 loci of LHX2 gene were associated with the esophageal cancer susceptibility (both P<0.05). The overdominant model of rs10760310 loci of LHX2 gene had the lowest Akaike information criterion value (OR=0.22, 95%CI: 0.10-0.47). GAA haplotypes at rs4648068, rs10760310 and rs10121751 loci were associated with a lower risk of esophageal cancer susceptibility (OR=0.26, 95%CI: 0.13-0.50). GMDR analysis revealed a statistically significant interaction between rs10760310 loci and smoking on esophageal cancer susceptibility (P<0.05, cross-validation consistency coefficient: 10/10). Conclusion The rs10760310 and rs10121751 loci polymorphisms of LHX2 gene may be associated with esophageal cancer susceptibility, and there is an interaction between rs10760310 loci and smoking on the esophageal cancer susceptibility.
Key wordsesophageal cancer    nuclear factor-kappa B subunit 1    LIM-homeobox gene 2    single nucleotide polymorphism
收稿日期: 2024-09-30      修回日期: 2024-12-18      出版日期: 2025-04-10
中图分类号:  R735.1  
基金资助:新疆维吾尔自治区自然科学基金项目(2022D01C299); 省部共建中亚发病成因与防治国家重点实验室开放课题(SKL-HIDCA-2021-13)
作者简介: 张闻烙,硕士研究生在读,公共卫生专业
通信作者: 蔡迎彬,E-mail:42912844@qq.com   
引用本文:   
张闻烙, 朱琳, 王岩, 刘广超, 王文翔, 蔡迎彬. NFKB1LHX2基因多态性与食管癌易感性研究[J]. 预防医学, 2025, 37(4): 350-355.
ZHANG Wenluo, ZHU Lin, WANG Yan, LIU Guangchao, WANG Wenxiang, CAI Yingbin. Relationship between NFKB1 and LHX2 gene polymorphisms and esophageal cancer susceptibility. Preventive Medicine, 2025, 37(4): 350-355.
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http://www.zjyfyxzz.com/CN/10.19485/j.cnki.issn2096-5087.2025.04.006      或      http://www.zjyfyxzz.com/CN/Y2025/V37/I4/350
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