SLCO1A2基因多态性年龄分布特征及其与乳腺癌易感性的关联研究  

Age Distribution Characteristics of SLCO1A2 Gene Polymorphism and Its Correlation with Susceptibility to Breast Cancer

作　　者：刘明周 王帅婷 李琳 LIU Mingzhou;WANG Shuaiting;LI Lin(Henan Provincial People’s Hospital,Zhengzhou University People’s Hospital,Henan Zhengzhou 450000)

机构地区：[1]河南省人民医院郑州大学人民医院,河南郑州450000

出　　处：《深圳中西医结合杂志》2024年第15期1-5,F0003,共6页Shenzhen Journal of Integrated Traditional Chinese and Western Medicine

基　　金：河南省重点研发与推广专项(科技攻关)项目(222102310347)。

摘　　要：目的:探讨SLCO1A2基因候选单核苷酸多态性(SNP)位点rs7967354及rs11045995基因型的年龄分布特征及其与乳腺癌易感性的关联性。方法:纳入2021年3月至2024年1月于河南省人民医院就诊的97例乳腺癌患者作为观察组,另以同期体检的健康女性107例为对照组,开展单中心病例对照研究。采集两组受试者静脉血样本,提取全基因组脱氧核糖核酸(DNA)。样本经聚合酶链式反应(PCR)扩增后进行焦磷酸测序获取基因型。比较两组间基因突变点位点基因型及等位基因分布频率差异性,分析SLCO1A2基因两候选SNP位点多态性年龄分布的特征以及与乳腺癌易感性的关联性。结果:SLCO1A2基因两候选SNP位点不同基因型及等位基因分布频率比较,差异均无统计学意义(P>0.05)。乳腺癌患者中rs7967354位点基因多态性与乳腺癌发病年龄存在联系,在乳腺癌易感年龄段rs7967354位点野生型及杂合突变型携带者之间的年龄分布差异具有统计学意义(χ^(2)=4.556,P=0.033)。结论:SLCO1A2基因两候选SNP位点多态性与乳腺癌易感性之间可能没有关联性,rs7967354位点突变基因型携带人群可能诱导乳腺癌发病年龄提前。Objective To clarify the relationships between the SLCO1A2 candidate single-nucleotide polymorphisms(SNPs)rs7967354 and rs11045995 genotypes and age of breast cancer onset,as well as potential associations between the SNPs and susceptibility to breast cancer.Methods A total of 97 patients with breast cancer who visited Henan Provincial People's Hospital from March 2021 to January 2024 were included as the observation group,and 107 healthy women who visited Henan Provincial People's Hospital during the same period were included as the control group to conduct a single-center case-control study.The venous blood samples of the two groups were collected and the whole genome deoxyribonucleic acid(DNA)was extracted.The samples were amplified by polymerase chain reaction(PCR)and pyrosequencing was performed to obtain the genotypes.The differences of genotype and allele distribution frequency between the two groups were compared,and the characteristics of age distribution of two candidate SNP polymorphisms of SLCO1A2 gene and their association with breast cancer susceptibility were analyzed.Results No significant differences were found in the genotypes or allele distribution frequencies of the two candidate SLCO1A2 SNPs(P>0.05).In the breast cancer patients,the rs7967354 polymorphism was observed to be associated with the age of breast cancer onset.Furthermore,the age distributions of the wild-type and heterozygous mutant carriers of rs7967354 showed significant differences(χ^(2)=4.556,P=0.033).Conclusion There may be no association between the two candidate SNP polymorphisms of SLCO1A2 gene and breast cancer susceptibility,and rs7967354 mutant genotype carriers may induce early onset of breast cancer.

关 键 词：乳腺癌 SLCO1A2基因 基因多态性 年龄 

分 类 号：R737.9[医药卫生—肿瘤]