原发性肺癌患者Notch1基因rs3124599位点单核苷酸多态性与肺癌易感性的相关性分析  

Correlation between single nucleotide polymorphism of Notch1 gene rs3124599 and susceptibility to lung cancer in patients with primary lung cancer

作　　者：于红[1] 胡强[1] 王利玲[1] 苏晓勇 周建平[2] YU Hong;HU Qiang;WANG Liling;SU Xiaoyong;ZHOU Jianping(Panzhihua University,Panzhihua 617000,China)

机构地区：[1]攀枝花学院临床医学院,四川攀枝花617000 [2]攀枝花学院医学院

出　　处：《山东医药》2018年第43期22-26,共5页Shandong Medical Journal

基　　金：国家自然科学基金资助项目(81301893);四川省攀枝花市科技计划项目(2014TX-10-1)

摘　　要：目的分析原发性肺癌患者Notch1基因rs3124599位点的单核苷酸多态性(Single nucleotide polymorphisms,SNP)与肺癌易感性的相关性。方法 78例原发性肺癌患者(观察组),我院非呼吸科患者及患者同一社区健康人群156例为对照组,抽取两组晨起肘部静脉血2 m L,采用酚-氯仿抽提法提取DNA,采用PCR-PFLPS技术分析Notch1基因rs3124599位点分型。收集两组临床资料,采用条件Logistic回归分析法评价各因素与肺癌易感性的相关性,采用交互作用系数(γ)评估环境因素与基因多态性的交互作用。结果观察组Notch1基因rs3124599位点基因型AA、AG、GG的分布频率分别为25. 6%(20/78)、39. 7%(31/78)、34. 6%(27/78),等位基因A、G的分布频率分别为45. 5%(71/156)、54. 5%(85/156);对照组分别为37. 2%(58/156)、44. 9%(70/156)、17. 9%(28/156),等位基因A、G的分布频率分别为59. 6%(186/312)、40. 4%(126/312);两组基因型分布及等位基因A、G的分布频率差异存在统计学意义(χ2=6. 518,3. 987; P均<0. 05)。观察组吸烟例数、吸烟程度、存在肿瘤家族史者均高于对照组(χ2=23. 890,5. 647; P均<0. 05)。条件Logistic回归分析显示,与rs3124599位点AA型基因人群比较,rs3124599位点GG基因型的个体患肺癌的风险性增加(校正OR=1. 596,95%CI:1. 058～2. 429);且携带G等位基因的个体患肺癌的危险度是A基因的1. 193倍(95%CI:1. 132～2. 501,P <0. 05)。rs3124599位点AG或GG基因型与吸烟(γ=2. 296)、饮酒(γ=1. 130)具有正向交互作用。rs3124599位点AG/GG基因型与肿瘤家族史同时存在时,患者发生肺癌的风险增加(OR=3. 751,95%CI=1. 665～18. 034)。相对于rs3124599位点基因型AA不吸烟的个体,单独吸烟及吸烟且携带AG/GG的暴露者患肺癌的危险性分别升高4. 495倍、12. 134倍。结论肺癌患者Notch1基因rs3124599位点G等位基因突变频率较高。Notch1基因rs3124599(A/G)的G等位基因可能是肺癌患病风险的一个危险因素,其与患者肿瘤家Objective To analyze the relationship between single nucleotide polymorphisms(SNP)of Notch1 gene rs3124599 and susceptibility to lung cancer in patients with primary lung cancer.Methods A total of 78 patients with primary lung cancer(observation group)and 156 healthy subjects(control group)were enrolled.The morning venous blood of the two groups were taken(2 mL).DNA was extracted by phenol-chloroform extraction and Notch1 gene rs3124599 locus typing was analyzed by PCR-PFLPS technique.The clinical data of the two groups were collected.The correlation between various factors and susceptibility to lung cancer was evaluated by conditional logistic regression analysis.The interaction coefficient(γ)was used to evaluate the interaction between environmental factors and gene polymorphism.Results The distribution frequencies of Notch1 gene rs3124599 genotypes AA,AG,GG in the observation group were 25.6%(20/78),39.7%(31/78),and 34.6%(27/78),which were 37.2%(58/156),44.9%(70/156),and 17.9%(28/156)in the control group;the distribution frequencies of alleles A and G in the observation group were 45.5%(71/156)and 54.5%(85/156),respectively,which were 59.6%(186/312)and 40.4%(126/312)in the control group.The differences of the distribution of genotypes and alleles A and G between the two groups were statistically significant(χ2=6.518,3.987;all P<0.05).The number of smoking,degree of smoking,and the family history of cancer in the observation group were higher than those in the control group(χ2=23.890,5.647;P<0.05).Conditional logistic regression analysis showed that individuals with rs3124599 GG genotype had an increased risk of lung cancer as compared with individuals with rs3124599 AA genotype(corrected OR=1.596,95%CI:1.058-2.429).The individuals carrying alleles G gene were 1.193 times more likely to develop lung cancer than those carrying A gene(95%CI:1.132 to 2.501,P<0.05).The rs3124599 locus AG or GG genotype had positive interaction with smoking(γ=2.296)and drinking(γ=1.130).When the rs3124599 locus AG/GG genotype

关 键 词：NOTCH1基因 rs3124599位点 单核苷酸多态性 肺肿瘤 肺癌 

分 类 号：R734.2[医药卫生—肿瘤]