雌激素受体α基因多态性与膀胱癌发病风险的相关性

  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（χ2=9.607，P=0.022；χ2=24.468，P < 0.001）、远处转移（χ2=2.367，P=0.027；χ2=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。

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

  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 (χ2 = 9.607, P = 0.022;χ2 = 24.468, P < 0.001) and distant metastasis (χ2 = 2.367, P = 0.027;χ2 = 21.758, P = 0.001). The expression of ESRα receptor 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].  Conclusion   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.