MRN基因多态性与乳腺癌及临床病理特征的关联研究  

Association study of MRN gene polymorphism with breast cancer and clinicopathologic characteristics

作　　者：张明龙[1] 刘丹[1] 刘万全 郑立红[1] 李鹏辉[2] 王秀华[3] 孟宪冬 吕莹[4] 梅庆步[1] Zhang Minglong;Liu Dan;Liu Wanquan;Zheng Lihong;Li Penghui;Wang Xiuhua;Meng Xiandong;Lyu Ying;Mei Qingbu(Department of Genetic,Qiqihar Medical University,Qiqihar 161006,China;Department of Cell Biology,Qiqihar Medical University,Qiqihar 161006,China;Biotechnology Laboratory,Qiqihar Medical University,Qiqihar 161006,China;Basic Medical Research Center,Qiqihar Medical University,Qiqihar 161006,China)

机构地区：[1]齐齐哈尔医学院遗传学教研室,齐齐哈尔161006 [2]齐齐哈尔医学院细胞生物学教研室,齐齐哈尔161006 [3]齐齐哈尔医学院生物技术实验室,齐齐哈尔161006 [4]齐齐哈尔医学院基础医学科研中心,齐齐哈尔161006

出　　处：《国际遗传学杂志》2024年第5期343-350,共8页International Journal of Genetics

基　　金：齐齐哈尔市科技局科技计划联合引导项目(LHYD-202005)。

摘　　要：目的研究DNA损伤修复效应因子复合物(MRE11-RAD50-NBS1,MRN)基因多态性与乳腺癌及临床病理特征的关联。方法收集黑龙江省西部地区4个医院的乳腺癌和对照组血液样本和临床资料,采用聚合酶链式反应-限制性内切酶(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)技术检测两群体的MRN基因的单核苷酸多态性位点(single nucleotide polymorphism,SNP):rs2155209、rs1061956、rs28903089、rs14448、rs1047382和rs1805794的基因型和等位基因分布,采用非条件性logistic回归分析其与乳腺癌发病和临床生物学特性的关联。结果乳腺癌组的rs1061956、rs1805794和rs1047382的基因型和等位基因分布与对照组相比具有差异,差异具有统计学意义(均P<0.05);携带rs1061956的TA、AA基因型、rs1047382的CC基因型、rs1805794的CG和GG基因型的群体患乳腺癌的风险值分别为1.543、2.821、3.049、1.566和1.742;携带单倍型TAG的群体患乳腺癌的风险值为1.325,携带单倍型GAC的群体患乳腺癌的风险值为0.702;rs1805794的GG基因型与淋巴结转移存在明显关联(OR=3.191,P=0.030);乳腺癌组rs1047382的CC基因型与淋巴结转移和ki67表达存在明显关联(OR=2.191,P=0.027;OR=2.220,P=0.041)。结论MRE11基因rs1061956、RAD50基因rs1047382和NBN基因的rs1805794位点的多态性与乳腺癌发病相关,其中,rs1805794位点的多态性与乳腺癌淋巴结转移相关,rs1047382位点的多态性与淋巴结转移和ki67表达相关。Objective To study the association of DNA damage repair effector complex(MRE11-RAD50-NBS1,MRN)gene polymorphism with breast cancer and clinicopathologic characteristics.Methods The blood samples and clinical data of breast cancer patients and control group from four hospitals in western Heilongjiang Province were collected.The single nucleotide polymorphism(SNP)of MRN gene was detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)technique.The genotypes and alleles of rs2155209,rs1061956,rs28903089,rs14448,rs1047382 and rs1805794 were analyzed by non-conditional logistic regression for their association with the incidence and clinical biological characteristics of breast cancer.Results The genotypes and alleles of rs1061956,rs1805794 and rs1047382 in breast cancer group were significantly different from those in control group(all P<0.05).The OR for breast cancer were 1.543,2.821,3.049,1.566 and 1.742 in the TA and AA genotypes of rs1061956,CC genotype of rs1047382,CG and GG genotypes of rs1805794,respectively.The risk of breast cancer was 1.325 for those with haplotype TAG and 0.702 for those with haplotype GAC.The GG genotype of rs1805794 was significantly associated with lymphatic metastasis(OR=3.191,P=0.030).The CC genotype of rs1047382 in breast cancer group was significantly associated with lymphatic metastasis and ki67 expression(OR=2.191,P=0.027;OR=2.220,P=0.041).Conclusion The polymorphisms of rs1061956 in gene MRE11,rs1047382 in gene RAD50 and rs1805794 in gene NBN are associated with the incidence of breast cancer.The polymorphism of rs1805794 was associated with lymphatic metastasis of breast cancer,and the polymorphism of rs1047382 was associated with lymphatic metastasis and ki-67 expression.

关 键 词：乳腺癌 MRN复合物 单核苷酸多态性 关联研究 临床病理特征 

分 类 号：R737.9[医药卫生—肿瘤]