王佳美,刘欣跃.CAV-1基因多态性与散发乳腺癌易感性的相关性分析[J].肿瘤学杂志,2020,26(7):621-625.
CAV-1基因多态性与散发乳腺癌易感性的相关性分析
Relationship Between Single Nucleotide Polymorphisms of CAV-1 Gene and Susceptibility of Sporadic Breast Cancer
投稿时间:2019-11-19  
DOI:10.11735/j.issn.1671-170X.2020.07.B011
中文关键词:  散发性乳腺癌  CAV-1基因  基因多态性  易感性
英文关键词:sporadic breast cancer  CAV-1 gene  gene polymorphism  susceptibility
基金项目:甘肃省卫生行业科研计划项目(GSWSKY2017-31 );兰州大学第二医院“萃英科技创新”计划项目(CY2017-MS17)
作者单位
王佳美 兰州大学第二医院 
刘欣跃 兰州大学第二医院 
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中文摘要:
      摘 要:[目的] 探讨CAV-1基因多态性与散发乳腺癌的相关性。[方法] 采用病例对照研究,纳入经病理确诊的135例女性乳腺癌患者作为实验组,166例女性健康体检者为对照组。通过竞争性等位基因特异性PCR法对研究对象基因位点进行分型;采用χ2检验比较CAV-1各SNP基因型及等位基因频率在两组中的分布差异;非条件Logistic回归分析CAV-1基因多态性与乳腺癌易感性的关联。[结果] 在共显性模型、显性模型及等位基因模型下rs3807987及rs7804372位点多态性与乳腺癌易感性密切相关。rs3807987:相对于GG基因型,AG、AA基因携带者(AG/AA基因型)均增加乳腺癌的发病风险(P<0.05),OR值分别为2.110(95%CI:1.270~3.505)、1.968(95%CI:1.205~3.216)。rs7804372位点:相对于TT基因型,AT、AA基因携带者(AT/AA基因型)均增加乳腺癌的发病风险(P<0.05),OR值分别为2.088(95%CI:1.285~3.392)、2.059(95%CI:1.293~3.280)。rs12672038位点:在共显性模型、显性模型、等位基因模型均未见rs12672038位点多态性分布与乳腺癌发病风险之间存在相关性。[结论] CAV-1基因rs3807987与rs7804372多态性与乳腺癌易感性相关。
英文摘要:
      Abstract:[Objective] To investigate the association of CAV-1 polymorphisms with the risk of sporadic breast cancer. [Methods] Competitive allele specific PCR(KASP) was performed to identify the genotypes of CAV-1 polymorphisms in 135 female breast cancer patients(study group),and 166 healthy women(control group). The distribution of CAV-1 SNP genotype and allele frequency were compared by Chi-square test,and unconditioned Logistic regression was used to analysis the relationship between CSV-1 gene polymorphisms and susceptibility of breast Cancer. [Results] The co-dominant model,dominant model and allelic model showed a significant association of CAV-1 gene rs3807987 and rs7804372 with the risk of breast cancer(all P<0.05). The risk of breast cancer was increased in women with rs3807987 AG,or AG/AA genotypes compared to those with GG genotype(OR=2.110,95%CI:1.270~3.505,P<0.05; OR=1.968,95%CI:1.205~3.216,P<0.05),respectively;and increased in women with rs7804372 AT,AT/AA genotypes compared to those with TT genotype(OR=2.088,95%CI:1.285~3.392,P<0.05; OR=2.059,95%CI:1.293~3.280,P<0.05) ,respectively. No significant association of rs12672038 polymorphism with risk of breast cancer was found in co-dominant model,dominant model or allele model. [Conclusion] The polymorphisms of CAV-1 gene rs3807987 and rs7804372 are associated with susceptibility to sporadic breast cancer.
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