维吾尔族妇女早发性乳腺癌与乳腺癌易感基因1交互作用蛋白1基因多态性的关系

摘要

Objective To investigate the association between single Nucleotide polymorphisms (SNPs) of breast cancer susceptibility gene 1 interacting protein C-terminal helicase 1 (BACH1) gene and susceptibility of early-onset breast cancer in Uygur women in Xinjiang.Methods Detecting and analyzing BACH1 gene exon sites by DNA direct sequencing method and Snapshot genotyping technology,in 80 early-onset breast cancer cases and 240 cases of Uygur women (≤ 40 years).Results In breast cancer and control groups of Uygur women,the frequencies of genotypes of rs4986764、rs4986765 and c.587A ＞ G of BACHI gene showed differences between breast cancer and control groups (P =0.001,P =0.011,P =0.049),rs4986764 site of TC (OR =0.086),CC (OR =0.044) and TC + CCdominant model (OR =0.058) significantly reduced the risk of breast cancer.rs4986765 site of GG (OR =5.617),AG + GG dominant model (OR =4.254) and c.587A ＞ G site of GG (OR =7.590),AG + GG dominant model (OR =7.590) significantly increased the risk of breast cancer.In addition,the SNP-SNP interactions of dominance-genotypes (TC + CC,AG + GG) reduced 0.4％ risk of breast cancer.Conclusion SNP of rs4986764 of BACHl gene was associated with significantly reduces risk of early-onset breast cancer in Xinjiang women of Uygur,SNP of rs4986765 and c.587A ＞ G were associated with significantly increases risk of breast cancer in Uygur women.%目的 探讨乳腺癌易感基因1交互作用蛋白1 (BACH1)基因单核苷酸多态性(SNPs)与新疆维族妇女早发性乳腺癌的关系.方法 用直接测序法及Snapshot技术分别对新疆80例维族乳腺癌(年龄≤40岁)和240例维族健康女性(年龄≤40岁)进行BACH1基因外显子检测分析.结果 在维族乳腺癌组和对照组,rs4986764、rs4986765和c.587A＞G位点的基因型频率差异均有统计学意义(P =0.001,P=0.011,P=0.049),rs4986764位点TC[优势比(OR)=0.086]、CC(OR=0.044)和显性模型TC+ CC(OR=0.058)的改变均能够显著降低乳腺癌的发病风险.rs4986765位点GG(OR=5.617)、显性模型AG+ GG(OR=4.254)和c.587A＞G位点AG(OR=7.590)、显性模型AG+ GG(OR=7.590)均能够显著增加乳腺癌的发病风险.同时,显性模型TC+ CC、AG+ GG间的交互作用可降低约0.4％的乳腺癌发病风险(OR=0.996).结论 BACH1基因rs4986764位点的SNP变化降低新疆维族妇女早发性乳腺癌的发病风险,rs4986765、c.587A＞G位点变化均增加维族乳腺癌的发病风险.