雌激素受体1 基因rs2046210 位点多态性与乳腺癌患病风险性关系初步研究

目的: 探讨雌激素受体1 基因(Estrogen receptor 1,ESR1) 周围区域单核苷酸多态(Single nucleotide polymorphism,SNP)位点rs2046210 与女性乳腺癌发生的相关性。方法:选取114 例乳腺癌患者的组织切片和141 例健康对照者的外周血,抽提基因组DNA,采用Taqman 探针法检测SNP 位点rs2046210 的基因型,计算基因型与基因频率,先检测Hardy-Weinberg 平衡性,然后采用字2 检验进行组间比较。结果:经检测rs2046210 等位位点T、C 及其三种基因型CC、TC、TT 均符合Hardy-Weinberg 平衡性定律,具有群体代表性(字2 值分别为2.78、2.95,v=1,P 均>0.05)。等位位点T、C 在乳腺癌组的分布频率为43.40%、56.60%,在健康组的分布频率为38.30%、61.70%。两组比较差异无统计学意义(P<0.05),该位点等位基因在病例组与对照组的分布无明显差别。多态性位点的三种基因型CC、TC、TT 在乳腺癌的频率分别为35.75%、11.35% 和53.90%,对照组35.96%、22.81%和41.22%,两组间比较差异有显著统计学意义(P<0.05)。进一步比较发现,基因型CC/ TT在两组中分布差异无统计学意义(P>0.05),相对风险比值OR 为1.94(0.92 ~ 4.1,95% CI),基因型CC/ TC 在两组中分布差异无统计学意义(P =0.228>0.05),相对风险比值OR 为0.74(0.43 ~1.28,95%CI),而基因型TT/ TC 在两组中分布差异有显著统计学意义(P =0.008<0.05)。结论:在贵州地区人群,雌激素受体1 基因rs2046210 位点的单核苷酸多态性可能与乳腺癌的遗传易感性相关,特别是rs2046210 TT 基因型可能增加个体患乳腺癌的风险,而CC 基因型降低了乳腺癌的患病风险。

Relationship between estrogen receptor 1 rs2046210 polymorphism and susceptibility to breast cancer

Objective:To investigate the association of a single nucleotide polymorphism (SNP),rs2046210 of the peripheral region of the estrogen receptor 1 gene(ERS1)with women breast cancer.Methods: Genomic DNA from 255 individuals of Guizhouwomen,including 114 tissue slices of diagnosis of breast cancer patients and 141 healthy people,and their peripheral blood were analyzed for the SNP rs2046210 of the ESR1 gene.rs2046210 was genotyped by polymerase chain reaction.A Chi-square test was used to determine the association of SNP with breast cancer.Results: The results showed that rs2046210 genotype in healthy and breast cancer cluster distributions were consistent with Hardy-Weinberg equilibrium( value 2.78 and 2.95 respectively,v=1,P>0.05),and the research objects were group representation.The frequency of C and T allele were 56.60% and 43.40% respectively in breast cancer patients,while 61.70% and 38.30% in healthy controls.There was no significant difference between these two groups(P>0.05).The frequencies of genotypes CC,CT and TT of SNP rs20462101 were 35.96%,22.81% and 41.22% respectively in breast cancer,which were different from controls,35.75%,11.35% and 53.90% respectively(P<0.05).Further comparisons revealed that genotype CC/TT in the two group distribution was not different(P>0.05)and the relative risk ratio OR was 1.94(0.92-4.1,95% CI).Genotype CC/ TC in the two group distribution was not different(P =0.228>0.05)and relative risk ratio was 0.74(0.43-1.28,95% CI),while the genotype TT/ TC in the two group distribution was significant difference(P =0.008<0.05).Conclusion: rs2046210 polymorphism has a potential to be a susceptibility factor for women breast cancer,and rs2046210 TT genotype may increase an individual’s risk ofbreast cancer,while the CC genotype increment may reduce the risk of breast cancer.