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GSTP1和 PLCE1基因多态性与原发性食管癌的相关性研究

Association of GSTP1 and PLCE1 gene polymorphisms with primary esophageal cancer

摘要目的:研究谷胱甘肽S转移酶P1( GSTP1)和磷脂酶Cε1( PLCE1)基因多态性对原发性食管癌易感性的影响及其与环境因素的交互作用。 方法:选取原发性食管癌患者和健康人群各162例为样本,采集性别、年龄、烟酒史和食管癌家族史等信息,并检测其 GSTP1基因A105G位点和 PLCE1基因rs3765524、rs2274223、rs3781264位点的单核苷酸多态性,建立Logistic回归模型,分析食管癌风险因素及各因素的交互作用。 结果:食管癌组吸烟史、食管癌家族史和热烫饮食人群占比高于对照组,差异有统计学意义( P<0.05);条件Logistic回归分析显示吸烟、食管癌家族史和 PLCE1 rs2274223 GG基因型为食管癌的风险因素( P<0.05), GSTP1 A105G AG/GG基因型是食管癌的保护因素( P<0.05);两因素交互模型中 GSTP1 A105G AA和 PLCE1 rs2274223 GG基因型均与吸烟具有交互作用,食管癌患病风险分别升高83.6%和85.7%( P<0.05); GSTP1 A105G AA基因型、 PLCE1 rs2274223 GG基因型和吸烟为最佳三因素交互模型,食管癌患病风险可升高244.0%( P<0.05);四因素交互模型分析显示同时存在 GSTP1 A105G AA基因型、 PLCE1 rs2274223 GG基因型、吸烟和食管癌家族史的人群食管癌患病风险可升高264.4%( P<0.05)。 结论:GSTP1基因A105G位点AG和GG基因型为食管癌保护因素, PLCE1基因rs2274223位点GG基因型为食管癌风险因素,且均可与吸烟产生交互作用,对食管癌易感性造成影响。

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abstractsObjective:To assess the association of polymorphisms of glutathione S-transferase P1 ( GSTP1) and phospholipase C epsilon-1 ( PLCE1) genes with the susceptibility of primary esophageal cancer and their interaction with environmental factors. Methods:162 patients with primary esophageal cancer and 162 healthy controls were recruited in this cross-sectional study. Basic information such as gender, age, history of smoking and alcohol consumption and family history of esophageal cancer were collected. Single nucleotide polymorphisms at A105G locus of GSTP1 gene and at rs3765524, rs2274223 and rs3781264 loci of PLCE1 gene were detected. A logistic regression model was established to analyze the risk factors of esophageal cancer and the interaction among the factors. Results:The proportions of individuals with smoking history, family history of esophageal cancer and hot diet in esophageal cancer group were higher than those in the control group ( P<0.05). Conditional Logistic regression analysis showed that smoking, family history of esophageal cancer and GG genotype at the rs2274223 locus of PLCE1 gene were the risk factors for esophageal cancer ( P<0.05), and AG/GG genotypes at the A105G locus of GSTP1 gene were the protective factors for esophageal cancer ( P<0.05). In the two-factor interaction model, both AA genotype at A105G locus of GSTP1 gene and GG genotype at rs2274223 locus of PLCE1 gene had an interaction with smoking, and the risk of esophageal cancer has increased by 83.6% and 85.7%, respectively ( P<0.05). AA genotype at A105G locus of GSTP1 gene, GG genotype at rs2274223 locus of PLCE1 gene and smoking constituted the best three-factor interaction model, and the risk of esophageal cancer has increased by 244.0% ( P<0.05). Four-factor interaction model analysis showed that the risk of esophageal cancer among individuals with AA genotype at A105G locus of GSTP1 gene, GG genotype at rs2274223 locus of PLCE1 gene, smoking and family history of esophageal cancer has increased by 264.4% ( P<0.05). Conclusion:The AG and GG genotypes at the A105G locus of GSTP1 gene are protective factors for esophageal cancer, and the GG genotype at rs2274223 locus of PLCE1 gene is a risk factor, both of them may interact with smoking and affect the susceptibility to esophageal cancer.

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作者 韩文杰 [1] 李伟艳 [2] 何章彪 [3] 学术成果认领
作者单位 商丘市第一人民医院肿瘤科,河南 476100 [1] 商丘市立医院检验科,河南 476000 [2] 商丘医学高等专科学校,河南 476299 [3]
栏目名称 临床遗传学论著
DOI 10.3760/cma.j.cn511374-20220330-00213
发布时间 2025-02-25
基金项目
河南省高等学校重点科研项目 Higher Education Key Research Program of Henan Province
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中华医学遗传学杂志

中华医学遗传学杂志

2022年39卷11期

1283-1289页

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