糖尿病易感基因TCF7L2基因rs12255372位点多态性与女性乳腺癌发病的关系

Correlation between rs12255372 polymorphism of TCF7L2 gene and female breast cancer

目的探讨糖尿病易感基因核转录因子7类似物2(TCF7L2)基因rs12255372位点多态性与女性乳腺癌发病的关系。方法选择女性乳腺癌患者564例(乳腺癌组)、女性体检健康者394例(对照组),采用LDR-PCR技术检测外周血TCF7L2基因rs12255372位点多态性,比较两组基因型频率,分析不同基因型乳腺癌的发病风险。收集乳腺癌组淋巴结转移情况、癌组织中雌激素受体(ER)、孕激素受体(PR)、人表皮生长因子受体2(HER-2)、p53、Ki-67表达,以及肿瘤直径、组织学分级、肿瘤分期及分子分型等资料,分析其与rs12255372位点多态性的关系。结果两组均未检测出TT基因型,乳腺癌组GG、GT基因型频率分别为98.2%(554/564)、1.8%(10/564),对照组分别为97.7%(385/394)、2.3%(9/394);经BMI校正后,GG基因型患乳腺癌的风险是GT基因型的1.586倍(OR=1.586,95%CI为0.615~4.086),但差异无统计学意义(P>0.05)。TCF7L2基因rs12255372位点多态性与乳腺癌淋巴结转移情况,ER、PR、HER-2、p53、Ki-67状态,肿瘤直径、组织学分级、肿瘤分期及分子分型均无相关性。结论糖尿病易感基因TCF7L2基因rs12255372位点多态性与女性乳腺癌的发病无关。

Objective To investigate the correlation between the rs12255372 polymorphism of transcription factor 7-like 2 (TCF7L2), a diabetes predisposing gene, and the female breast cancer.Methods The genomic DNAs were ex-tracted from the peripheral blood drawn from 564 female breast cancer patients ( breast cancer group) and 394 healthy fe-male (control group).The polymorphism of TCF7L2 gene rs12255372 was detected by a multiplex PCR-Ligase detection reaction ( PCR-LDR) assay from genomic DNA.We compared the genotype frequencies in the two groups and analyzed the correlations between genotypes and breast cancer risk.The clinicopathologic characteristics such as lymph node metastasis, estrogen receptor (ER), progesterone receptor (PR), HER-2 receptor status, p53, Ki-67 status, tumor size, histological grade, tumor stage and molecular typing were collected, and we analyzed their correlations with the rs12255372 polymor-phism of TCF7L2 gene.Results We did not detect TT genotype in the two groups.The genotype frequencies of GG and GT in the breast cancer group were 98.2% (554/564) and 1.8% (10/564), and 97.7% (385/394) and 2.3% (9/394) in the control group.The GG genotype was 1.586 times higher than that of the GT genotype in the risk of having breast cancer (OR=1.586, 95%CI=0.615-4.086), but the difference was not statistically significant (P>0.05).The TCF7L2 gene rs12255372 polymorphisms were not related with the lymph node metastasis, ER, EP, HER-2, p53, Ki-67 status, tumor size, histological grade, tumor stage and molecular typing.Conclusion TCF7L2 gene rs12255372 polymor-phism has nothing to do with the risk of breast cancer.