维生素D受体基因型、单体型与乳腺癌发病风险的相关性研究  

Relationship between Genotypes and Halpotypes of Vitamin D Receptor Gene and Breast Cancer Risk

作　　者：黄友泽 陆红[2] 白永恒[3] 陈以勒 曾云祥 潘贻飞[3] 

机构地区：[1]温州市第八人民医院检验科,325000 [2]温州医学院附属第一医院实验诊断中心 [3]温州医学院附属第一医院外科实验室

出　　处：《医学研究杂志》2012年第10期89-92,共4页Journal of Medical Research

基　　金：温州市鹿城区科技计划项目(S10106)

摘　　要：目的探讨维生素D受体(VDR)基因型、单体型与乳腺癌发病风险关系。方法选取146例乳腺癌患者和320例非癌女性对照人群为研究对象,应用PCR-RFLP检测VDR基因rs1544410、rs7975232和rs731236点的多态性,采用ELISA检测血浆中1,25(OH)2D3含量,结果用SPSS 13.0软件进行分析。结果 3个位点中仅rs7975232基因型与乳腺癌发病相关。与纯合子GG相比,杂合子基因型TT具有较低的发病风险(P=0.001,OR=0.460,95%CI:0.286～0.740)。但不同的基因型之间1,25(OH)2D3含量并无差异。此外,单体型AGT在病例组分布频率为3.8%,显著高于对照组的分布频率(0.8%,P=0.002);而单体型GTT在病例组的分布则显著低于对照组(19.8%vs 26.7%,P=0.018)。结论 VDR基因与乳腺癌发病存在一定相关;携带单体型GTT的女性具有较低的患乳腺癌风险,而单体型AGT则发病风险较高。Objective To investigate the relationship between genotypes and halpotypes in the vitamin D receptor （VDR） gene and breast cancer risk. Methods Samples were collected from 146 breast cancer patients and 320 non - cancer female controls. The geno- types were detected by PCR - RFLP and confirmed by sequencing. The levels of plasma 1,25 （OH） 2 D3 were measured by ELISA. The as- sociation between genotype and allelie frequencies with protein levels were calculated and analyzed by SPSS 13.0 software. Results Of three SNPs, only rs7975232 TT was shown to associate with 0.46 - fold risk of breast cancer. No association of VDR genotypes and the levels of plasma 1,25 （OH）2D3 were found. Additionally, the frequency of haplotype AGT was 3.8% in cases, significantly higher than that in controls （0.8% , P = O. 002）. However, the frequency of haplotype GTT in cases were significantly lower than that in controls （19.8% vs26.7% ,P=0.018）. Conclusion VDR gene polymorphisms are related to breast cancer risk. Individuals with haplotype GTT show lower risk, but the individuals with halpotype AGT have higher risk.

关 键 词：维生素D受体 单体型 基因型 乳腺癌 

分 类 号：R681[医药卫生—骨科学]