雌激素受体α基因多态性与膀胱癌发病风险的相关性  

Correlation between estrogen receptor alpha gene polymorphism and risk of bladder cancer

作　　者：贾敏 赵灵燕 白瑞霞[3] 乔建坤 刘俊峰 庞慧 高玉敏 JIA Min;ZHAO Ling-yan;BAI Rui-xia;QIAO Jian-kun;LIU Jun-feng;PANG Hui;GAO Yu-min(School of Public Health,Inner Mongolia Medical University,Hohhot 010110,China;Inner Mongolia Medical University Key Laboratory of Molecular Epidemiology of Chronic Diseases,Hohhot 010110,China;Department of Laboratory Medicine,People’s Hos-pital of Inner Mongolia Autonomous Region,Hohhot 010020,China;Department of Urology,People’s Hospital of Inner Mongolia Autonomous Region,Honhot 010020,China)

机构地区：[1]内蒙古医科大学公共卫生学院,呼和浩特010110 [2]内蒙古医科大学慢性病分子流行病学重点实验室,呼和浩特010110 [3]内蒙古自治区人民医院检验科,呼和浩特010020 [4]内蒙古自治区人民医院泌尿外科,呼和浩特010020

出　　处：《中华疾病控制杂志》2020年第8期908-913,共6页Chinese Journal of Disease Control & Prevention

基　　金：内蒙古自治区卫生计生科研计划项目(201701040);内蒙古医科大学2017年人才团队项目(NYTD-2015009)。

摘　　要：目的研究雌激素受体α基因单核苷酸多态性与膀胱癌易感性的关系。方法从两医院收集膀胱癌新发病例220例及同期健康体检对照220例,通过问卷收集研究对象一般情况,查阅电子病历收集临床检查资料;用多重高温连接酶检测反应技术(improved multiple ligase detection reaction,iMLDR)检测基因型;采用酶联免疫法检测两组血清中雌激素受体α(estrogen receptor alpha,ESRα)的表达量。结果病例组的体重指数、饮食及生活行为习惯和血红蛋白、中性粒细胞百分率等临床检查结果与对照组人群差异均有统计学意义(均有P<0.05)。rs1801132位点基因及基因型频率与病理分级(χ~2=9.607,P=0.022;χ~2=24.468,P<0.001)、远处转移(χ~2=2.367,P=0.027;χ~2=21.758,P=0.001)有关。膀胱癌患者血清中ESRα受体表达量低于正常人群(t=5.588,P<0.001)。rs1801132位点多态性在不同基因型人群中膀胱癌发病风险均有统计学差异[GG:OR(95%CI)=0.325(0.141~0.751),P=0.009;GC:OR(95%CI)=0.409(0.198~0.847),P=0.016]。结论rs1801132位点多态性与膀胱癌发病相关,GG/GC基因型在膀胱癌中具有保护作用;rs2234693位点多态性与膀胱癌无相关性。Objective To study the relationship between single nucleotide polymorphisms of estrogen receptor alpha gene and susceptibility to bladder cancer.Methods 220 new cases of bladder cancer patients and 220 healthy controls were collected from two hospitals.The general demographic characteristics of the study subjects was collected through questionnaires.Electronic medical records were used to collect clinical examination data.Detection of genotypes was detected by improved multiple ligase detection reaction(iMLDR).Enzyme-linked immunosorbent assay was used to detect the expression of estrogen receptor alpha(ESRα)in the serum of cases and control groups.Results The body mass index,diet and other habits of the case group and clinical examination results such as hemoglobin and neutrophil percentage were significantly different from those of the control group(all P<0.05).The rs1801132 locus gene and genotype frequency were related to pathological grade(χ~2=9.607,P=0.022;χ~2=24.468,P<0.001)and distant metastasis(χ~2=2.367,P=0.027;χ~2=21.758,P=0.001).The expression of ESRαreceptor in the serum of bladder cancer patients was significantly lower than that in the normal population(t=5.588,P<0.001).The polymorphism of rs1801132 locus was statistically different in bladder cancer risk among different genotype populations[GG:OR(95%CI)=0.325(0.141-0.751),P=0.009;GC:OR(95%CI)=0.409(0.198-0.847),P=0.016].Conclusions The polymorphism of the rs1801132 is associated with bladder cancer,and the GG/GC genotype plays a protective role in bladder cancer.There was no correlation between rs2234693 polymorphism and bladder cancer.

关 键 词：雌激素受体Α基因 单核苷酸多态性 膀胱癌 联合作用 环境因素 

分 类 号：R181.1[医药卫生—流行病学]