CYP1B1基因rs1056836位点多态性与新疆维吾尔族乳腺癌易感性的研究

目的 探讨CYP1B1基因rs1056836单核苷酸位点多态性与新疆维吾尔族乳腺癌易感性的关系。方法 应用聚合酶链反应-限制片段长度多态性（PCR-RFLP）检测125例维吾尔族女性乳腺癌患者（乳腺癌组）和160例体检的健康维吾尔族女性（对照组）CYP1B1基因rs1056836位点多态性，分析该位点多态性在不同群体中的分布情况。采用问卷调查和病例查询的方法收集乳腺癌相关危险因素的资料，用Logistic回归模型分析rs1056836位点多态性与乳腺癌患病风险的相对危险度。结果 CYP1B1基因rs1056836位点中存在CC、CG、GG 3种基因型，其在乳腺癌组和健康女性对照组中的分布频率分别为432％、512％、5.6％和60.6％、34.4％、5.0％，两组基因型分布的差异有统计学意义（P＜0.05）；乳腺癌组C、G等位基因的分布频率分别为68.8％、31.2％，对照组分别为77.8％、22.2％，差异有统计学意义（P＜0.05）。Logistic回归模型分析显示携带CC基因型维吾尔族女性的乳腺癌发病风险降低。乳腺癌相关危险因素的分层分析显示初潮早、有肿瘤家族病史、未绝经妇女中携带CG、GG基因型者乳腺癌患病风险明显增加。结论 CYP1B1基因rs1056836位点多态性与维吾尔族乳腺癌的发生有关，其突变基因型增加了维吾尔族女性乳腺癌的患病风险。

The relationship between the polymorphism in CYP1B1 gene rs1056836 and the susceptibility to breast cancer in Xinjiang Uygur women

Objective To investigate the association between the CYP1B1 gene rs1056836 polymorphism and the susceptibil- ity to breast cancer in Xinjiang Uygur women. Methods Polymerase chain reaction restriction fragment length polymorphism （PCR- RFLP ） was performed to detect the polymorphism of the CYP1B1 gene rs1056836 between 125 cases of Uygur women with breast canc- er and 160 cases of healthy Uygur women and the relationship between polymorphic loci and the susceptibility to breast cancer was ana- lyzed. Results CYP 1B 1 gene in the rs1056836 site had three genotypes, namely CC, CG, GG. The distribution frequency of three gen- otypes were 43. 2% ,51.2% ,5.6% in the breast cancer group, and were 60. 6%, 34. 4%, 5.0 % in the healthy control group. There was significant differences for distribution of three genotypes between two groups （P〈0.05）. The distribution frequency of allele C, G was 68.8% ,31.2% in the breast cancer group and 77. 8% ,22. 2% in the healthy control group with statistical difference significantly （P〈0. 05）. Logistic regression univariate analysis showed that carrying the CC genotype reduces the risk of breast cancer in Uygur women. Stratification analysis of risk factors of breast cancer suggested that compared with wild genotype CC,carrying CG, GG genotype in the early menarche,family history of cancer and premenopausal Xinjiang Uygur women increased risks of breast cancer. Conclusion The polymorphism of CYP1B1 rs1056836 is significantly associated with the susceptibility to breast cancer in Uygnr women. CYP1BI rs1056836 mutation genotype increases the risk of breast cancer in Xinjiang Uygnr women.