人骨桥蛋白基因多态性与乳腺癌易感性的关联研究

Association study of OPN gene polymorphism with breast cancer susceptibility

中文关键词: 【】乳腺癌，骨桥蛋白，单核苷酸多态性

英文关键词: Breast  cancer, Osteopontin, SNP.

中文摘要:

      【】目的 研究人骨桥蛋白基因（OPN）多态性与乳腺癌易感性的关联。方法 收集黑龙江省西部地区四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（PCR-RFLP）技术检测两群体的OPN基因的单核苷酸多态性位点（SNP）:rs1126772、rs9138、rs11730582和rs4754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rs1126772和rs4754的基因型和等位基因分布与对照组相比具有显著性差异（均P<0.01）；携带rs1126772的AG、GG基因型的群体患乳腺癌的风险值分别为4.855和1.279，携带rs4754的TC和CC基因型的群体患乳腺癌的风险值分别为0.040和0.127。结论 OPN基因rs1126772和rs4754位点的多态性与乳腺癌发病相关，其中，rs1126772位点的突变型基因是危险因素，而rs4754位点的突变型基因型是保护因素。

英文摘要:

      Objective To study the association of human osteopontin gene (OPN) polymorphism with breast cancer and clinical biological 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 OPN was detected by polymerase chain reaction-restriction enzyme (PCR-RFLP) technique. The genotypes and alleles of rs1126772, rs9138, rs11730582 and rs4754 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 rs1126772 and rs4754 in breast cancer group were significantly different from those in control group (all P<0.05).The OR for breast cancer were 4.855 and 1.279 in the AG and GG genotypes of rs1126772. The OR of breast cancer were 0.040 and 0.127 in the TC and CC genotype of rs4754. Conclusion The polymorphisms of rs1126772 and rs4754 in OPN are associated with the incidence of breast cancer, among which the rs1126772 mutations are risk factors. Mutant genotypes at rs4754 were protective factors.