维生素D受体基因多态性与乳腺癌的相关性

目的：研究维生素D受体基因的多态性与乳腺癌的关系。方法：收集86例乳腺癌患者及134名对照，用聚合酶链反应－限制性片段长度多态性方法，在维生素D受体基因的3’端分析了两个限制性酶切位点（ApaI及TaqI）的多态分布。结果：发现TaqI位点等位基因在两个群体间分布的差异有显著性（P＝0．0004）。进一步对基因型进行分析发现，Tt、tt基因型与乳腺癌相关。而ApaI位点两等位基因未发现在两群体中存在差异。对ApaI及TaqI两座位的单体型进行分析，发现tA间存在连锁不平衡。在两群体中分析单体型的分布发现tA在病例中的比例明显高于对照人群，提示tA单体型与乳腺癌相关。两个位点等位基因及单体型与临床指标的分析均未发现阳性结果。结论：维生素D受体基因的多态怀与乳腺癌有关，提示维生素D受体基因与乳腺癌有关。

Relationship of vitamin D receptor polymorphism with breast cancer

OBJECTIVE: To detect the association between vitamin D receptor polymorphism and breast cancer. METHODS: Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) method was used. Two restriction fragment length polymorphisms in the 3'region of vitamin D receptor (VDR) gene, Taq I and Apa I, were tested for association with breast cancer risk in 86 females with breast cancer and 134 healthy female controls. RESULTS: Allele frequencies of the 3'Taq I polymorphism showed a significant association (P=0.0004, OR:5.39,CI:1.81-17.20). The further study of genotype found the association of Tt, tt with breast cancer. The haplotype analysis of Apa I and Taq I showed a linkage disequilibrium between t-allele and A-allele. The frequency of tA haplotype was higher in breast cancer patients than in controls (P=0.001), indicating that tA haplotype is associated with breast cancer. The alleles and haplotype of the two loci had not any difference among the clinical subgroups. CONCLUSION: There is association between vitamin D receptor polymorphism and breast cancer.