FGFR2基因多态性与乳腺癌的相关性研究  

The Relationship between Two FGFR2 Polymorphisms and Breast Cancer

作　　者：刘美[1] 单可人[1] 何燕[1] 张婷[1] 齐晓岚[1] 赵艳[1] 吴昌学[1] 王婵娟[1] 王晓亮[1] 官志忠[1] 任锡麟[1] 

机构地区：[1]贵阳医学院分子生物学重点实验室,贵阳市550004

出　　处：《中国肿瘤临床》2009年第7期413-416,共4页Chinese Journal of Clinical Oncology

基　　金：贵州省优秀科技教育人才省长专项资金(编号:黔科教办[2005]14号);贵州省科学技术基金项目资助(编号:黔科合J字[2005]2016号;黔科合J字[2007]2032号)

摘　　要：目的:探讨成纤维细胞生长因子受体2基因(FGFR2)第二内含子单核苷酸多态性在女性群体中的频率分布及其与女性乳腺癌易感性之间的相关性。方法:运用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法结合琼脂糖凝胶电泳技术,对106例女性乳腺癌患者(乳腺癌组)和116例正常女性(对照组)对照进行检测,分析两组贵州地区人群FGFR2基因第二内含子的两个单核苷酸多态性位点rs2420946和rs2981579的基因及基因型的分布情况。结果:乳腺癌组FGFR2基因单核苷酸多态性位点rs2420946的基因型(AA,AG,GG)频率分别为15.09%、48.11%、36.79%,对照组为18.10%、43.97%、37.93%;乳腺癌组与对照组A等位基因频率分别为39.15%和40.09%,G等位基因频率分别为60.85%和59.91%;两组人群分别进行比较,基因型及等位基因频率分布的差异均无统计学意义(P>0.05);FGFR2基因rs2981579的基因型(CC,CT,TT)频率在乳腺癌组分别为30.19%、45.28%、24.53%,对照组为27.59%、48.28%、24.14%;乳腺癌组与对照组C等位基因频率分别为52.83%和51.72%,T等位基因频率分别为47.17%和48.28%;两组人群分别进行比较,基因型频率与等位基因频率分布的差异均无统计学意义(P>0.05)。结论:FGFR2基因第二内含子的两个单核苷酸多态性位点rs2420946及rs2981579在乳腺癌及对照人群中基因型频率与等位基因频率分布差异均无统计学意义,提示两个位点的多态性与乳腺癌无明显相关性。Objective： To detect the distribution frequency of single nucleotide polymorphisms in the second intron of the fibroblast growth factor receptor 2 gene （FGFR2） in women and to investigate the association between these polymorphisms and the incidence of breast cancer. Methods： Using polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） and agarose gel electrophoresis, we tested 106 female breast cancer patients and 116 healthy women to study genotype and gene distribution of polymorphisms rs2420946 and rs2981579 in FGFR2. Results： The frequencies of genotypes AA, AG, and GG of polymorphism rs2420946 were 15.09%, 48.11% and 36.79% in the breast cancer group, and 18.10%, 43.97% and 37.93% in the control group, respectively. The frequency of the A aUete was 39.15 % in the breast cancer group and 40.09% in the control group. The frequency of the G allele was 60.85% in the breast cancer group and 59.91% in the control group. No significant difference was found in the genotypes or the allele distribution frequency between the breast cancer group and the control group （P〉0.05）. The frequencies of genotypes CC, CT, and TT of rs2981579 were 30.19%, 45.28% and 24.53% in the breast cancer group, and 27.59%, 48.28% and 24.14% in the control group. The frequency of the C allele was 52.83% in the breast cancer group and 51.72% in the control group （P〉0.05）. The frequency of the T allele was 47.17% in the breast cancer group and 48.28% in the control group （P〉0.05）. Conclusion： Single nucleotide polymorphisms rs2420946 and rs2981579 in the second intron of the FGFR2 gene are not correlated with breast cancer incidence.

关 键 词：乳腺癌 成纤维细胞生长因子受体2 单核苷酸多态性 

分 类 号：R737.9[医药卫生—肿瘤] R541.4[医药卫生—临床医学]