【摘要】 目的 探讨CD44基因rs4756195位点多态性与中国重庆地区汉族女性乳腺癌遗传易感性的关系。方法 采用病例对照研究，利用Sequenom MassArray iPLEX GOLD系统检测170例乳腺癌患者和178例健康对照者CD44基因rs4756195位点单核苷酸多态性，并对检测结果进行t检验、χ2检验和非条件logistic回归分析。结果 CD44基因rs4756195位点AA、AG和GG三种基因型在乳腺癌组和对照组的分布频率差异有统计学意义（χ2=6.272，P=0.043）；与携带AA基因型的个体比较，携带AG、GG基因型的个体乳腺癌的发病风险明显增加（OR=6.035，95%CI：1.262～28.856，P=0.024；OR=5.367，95%CI：1.166～24.709，P=0.031）。携带GG基因型的乳腺癌腋窝淋巴结转移率高于携带AA和AG基因型的乳腺癌，差异有统计学意义（62.6% vs. 44.7%, χ2=4.473，P=0.034）；携带AA和AG基因型的乳腺癌CD44阳性率高于携带GG基因型的乳腺癌（68.1 % vs. 45.5%，χ2=6.930，P=0.008）。结论 CD44基因rs4756195位点多态性与中国重庆地区汉族女性乳腺癌的发病风险相关，AG和GG基因型是中国重庆地区汉族女性乳腺癌的易感基因型。CD44基因rs4756195位点多态性与乳腺癌腋窝淋巴结转移、CD44表达相关，提示携带GG基因型的乳腺癌可能预后不良。
英文摘要:
【Abstract】 Objective To explore the association of CD44 rs4756195 polymorphisms with genetic susceptibilities and clinico-pathologic characteristics to breast cancer of Han Nationality in Chongqing, China. Methods This case-control study included 170 patients with breast cancer and 178 healthy controls, single nucleotide polymorphisms (SNPs) of CD44 rs4756195 polymorphisms at intron 1 were genotyped by Sequenom MassArray iPLEX GOLD System. Data was analyzed via t test, Chi-square test and Logistic regression analysis. Results The frequencies of genotypes (AA, AG and GG) of CD44 rs4756195 showed a significant difference in the distribution of the genotypes between patients with breast cancer and healthy controls （χ2=6.272，P=0.043）. The GG and AG genotype significantly increased the risk of breast cancer compared with AA genotype （OR=6.035，95%CI：1.262-28.856，P=0.024；OR=5.367，95%CI：1.166-24.709，P=0.031）. The rate of axillary lymph nodes metastasis in patients with breast cancer who carried with GG genotype was higher than those carried with AG and GG genotype （62.6% vs. 44.7%, χ2=4.473，P=0.034）. The positive rate of CD44 in patients with breast cancer who carried with AG and GG genotype was higher than those carried with GG genotype （68.1 % vs. 45.5%，χ2=6.930，P=0.008）. Conclusion CD44 rs4756195 polymorphisms are closely associated with the increased risk for breast cancer in Han Nationality; AG and GG genotype are susceptible genotype for breast cancer. CD44 rs4756195 polymorphisms are closely associated with the expression of CD44 and axillary lymph nodes metastasis, the patients with breast cancer who carried with GG genotype may have bad prognosis.
