赵洪猛, 张 斌, 姚 慧, 李晓莉, 宋艳群, 王 鑫, 刘晓霞, 曹旭晨. FGFR2 基因多态性与乳腺癌易感性的相关性研究*[J]. 中国肿瘤临床, 2010, 37(11): 626-629. DOI: 10.3969/j.issn.1000-8179.2010.11.008
引用本文: 赵洪猛, 张 斌, 姚 慧, 李晓莉, 宋艳群, 王 鑫, 刘晓霞, 曹旭晨. FGFR2 基因多态性与乳腺癌易感性的相关性研究*[J]. 中国肿瘤临床, 2010, 37(11): 626-629. DOI: 10.3969/j.issn.1000-8179.2010.11.008
ZHAO Hong-meng, ZHANG Bin, YAO Hui, LI Xiao-li, SONG Yan-qun, WANG Xin, LIU Xiao-xia, CAO Xu-chen. Correlations between FGFR2 Gene Polymorphism and Susceptibility of Breast Cancer[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2010, 37(11): 626-629. DOI: 10.3969/j.issn.1000-8179.2010.11.008
Citation: ZHAO Hong-meng, ZHANG Bin, YAO Hui, LI Xiao-li, SONG Yan-qun, WANG Xin, LIU Xiao-xia, CAO Xu-chen. Correlations between FGFR2 Gene Polymorphism and Susceptibility of Breast Cancer[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2010, 37(11): 626-629. DOI: 10.3969/j.issn.1000-8179.2010.11.008

FGFR2 基因多态性与乳腺癌易感性的相关性研究*

Correlations between FGFR2 Gene Polymorphism and Susceptibility of Breast Cancer

  • 摘要: 目的:探讨纤维细胞生长因子受体2(FGFR 2)基因rs 2981582 位点单链核苷酸多态性与中国女性乳腺癌易感性之间的关系。方法:利用Tm-shifting 实时荧光定量PCR 检测FGFR2 基因rs 2981582 位点SNP(C/T),用荧光染料SYBR GreenⅠ标记样本DNA,通过在特异引物5' 端加上不同长度的尾,使不同基因型溶解曲线的峰值出现差异。确定判断标准:Tm≤84.6℃的是纯合子CC,≥87.5℃的是纯合子TT,处于中间的是杂合子TC。利用此方法对956 例乳腺癌患者和471 例良性乳腺疾病患者进行病例对照研究,分析FGFR2 基因rs 2981582 位点SNP 与乳腺癌发生之间的关系。结果:对照组CC、CT、TT各基因型表达的例数及基因频率分别为234 例(49.68%)、181 例(38.43%)、56例(11.89%)。 乳腺癌组总体各基因型例数及基因频率分别为426 例(44.56%)、400 例(41.84%)、130 例(13.60%),与对照组比较无统计学意义(P=0.183)。 进一步分层分析发现,ER(+)组各基因型例数及基因频率分别为189 例(41.27%)、202 例(46.12%)、67例(14.63%),与对照组比较有统计学意义(P=0.035);而ER(-)组各基因型及基因频率分别为237 例(47.59%)、198 例(39.75%)、63例(12.65%),与对照组比较无统计学意义(P=0.802)。 结论:FGFR2 基因第二内含子SNP rs 2981582 与ER阳性乳腺癌的发生有显著关系,同时验证了用本方法检测大批量人群标本的SNP 操作简便,检测耗时短,结果特异且费用较为低廉,适合于进行大规模样品的SNP 快速测定。

     

    Abstract: Objective: To investigate the relationship between the fibroblast growth factor 2 (FGFR2) gene polymor -phism rs 2981582 and the susceptibility of breast cancer in Chinese women. Methods:A single nucleotide polymorphism (SNP) of rs 2981582 loci in FGFR 2 gene (C/T) was detected using Tm-shifting real-time fluorescent quantitative PCR. DNA in the specimen was labeled by the fluorescent dye SYBR Green I. By adding tails of different lengths in the5’-end of specific primers, the peaks of different genotypes in the solubility curve could be varied. The criterion was defined as fol-lows: a Tm lower than or equivalent to 84.6℃meant a homozygote CC, a Tm higher than or equivalent to 87.5℃meant a homozygote TT, and a Tm between the two thresholds meant a heterozygote TC. Using this method, 936 patients with breast cancer and471 patients with benign breast diseases were tested to analyze the relationship between this SNP and carcinogenesis of the breast cancer. Results: The frequencies of the genotypes CC, CT, and TT were respectively 426 (44.56%),400 (41.84%) and130 (13.60%) in the breast cancer group and234 (49.68%),181 (38.43%) and56(11.89%) in the control group. There was no statistical significance in the differences between the two groups (P=0.183 ). Further strati -fied analysis demonstrated that the frequencies of the genotypes CC, CT and TT were respectively 189 (41.27% ), 202 (46.12%) and67(14.63%) in the positive ER subgroup of breast cancer, with a significant difference when compared with the control group ( P=0.035 ). However, the frequencies of the three genotypes were 237 (47.59% ), 198 (39.75% ) and63 (12.65%), respectively, in the negative ER subgroup of breast cancer, without a significant difference when compared with the control group ( P=0.802 ). Conclusion:There is a significant correlation between the SNP rs2981582 of intron 2 in FG -FR2 gene and ER-positive breast cancer. Our paper also demonstrates this new detection method is suitable for SNP typ-ing a large number of samples because it is cheap, easy and simple to use.

     

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