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  

Association study between polymorphism of breast cancer susceptibility gene 1 interacting protein C -terminal helicase 1 and early - onset breast cancer in Xinjiang women of Uygur

作　　者：吴军[1] 董朝[1] 孙刚[1] 单美慧[1] 马斌林[1] Dong Zhao;Sun Gang;Shen Meihui;Ma Binlin(Department of Breast and Head - Neck Surgical Ontology, Affiliated Cancer Hospital of Xinjiang Medical University, Urumqi 830011, China)

机构地区：[1]新疆医科大学附属肿瘤医院乳腺头颈外科,乌鲁木齐830011

出　　处：《中华实验外科杂志》2018年第6期1005-1008,共4页Chinese Journal of Experimental Surgery

基　　金：新疆维吾尔自治区自然科学基金（2017D01C408）

摘　　要：目的探讨乳腺癌易感基因1交互作用蛋白1（BACHl）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BACHl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BACHl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。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 an- alyzing 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 BACH1 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.

关 键 词：乳腺癌易感基因1交互作用蛋白1基因 单核苷酸多态性 维吾尔族 乳腺癌 

分 类 号：R737.9[医药卫生—肿瘤]