ESRα和VDR基因多态性与乳腺癌易感性关系

白永恒; 陆红; 黄友泽; 梁勇; 张行; 刘乐平; 潘晓东; 陈必成

doi:10.11847/zgggws2010-26-12-29

ESRα和VDR基因多态性与乳腺癌易感性关系

Association between polymorphisms of estrogen receptor alpha and vitamin D receptor gene and breast cancer risk

摘要

摘要: 目的探讨雌激素受体α(ESRα)、维生素D受体(VDR)基因多态性与乳腺癌发病风险关系。方法选取189例乳腺癌患者和374名非癌女性对照人群为研究对象,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和测序检测ESRα基因rs2234693和rs9340799位点、VDR基因rs10735810位点的多态性。结果ESRα基因rs9340799位点等位基因G在病例组的分布频率(15.08%)明显低于对照组(22.46%)(P=0.002),与等位基因A相比,经年龄校准的OR=0.580(95%CI=0.413~0.815);ESRα基因单体型CG在病例组的分布频率(13.7%)明显低于对照组(20.6%)(P=0.005),复合基因型CCGG在病例组的分布频率(1.59%)也明显低于对照组(5.61%)(P=0.025),其OR值分别为0.614(95%CI=0.436~0.864)和0.271(95%CI=0.080~0.921)。结论ESRα基因rs9340799位点多态性与乳腺癌发病紧密相关,携带有等位基因G,单体型CG或复合基因型CCGG的个体患乳腺癌的风险较低。

Abstract: ObjectiveTo investigate the associations between polym orphisms of the estrogen receptor alpha,vitam in D receptor gene and breast cancer risk.MethodsTotally 189 breast cancer patients and 374 non-cancer female controls were selected.The geno types were detected by PCR-RFLP and confirmed by sequencing.ResultsThe frequency of rs9340799 G allele was 15.08% in the cases and significantly lower than that of in the controls(22.46%),and the cancer risk was decreased compared with A allele(odds ratioOR=0.580,95% confidence intervalCI:0.413-0.815).Haplotype CG and multiplex geno type CCGG was associated with a decreased risk of breast cancer with the ORs of 0.614(95%CI:0.436-0.864),0.271(95%CI:0.080-0.921),respectively.Conclusionrs9340799 polymo rphism in ESRα gene is related to breast cancer risk and individuals with allele G,halpotype CG or multiplex geno type CCGG have decreased risk of breast cancer.

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