FGFR2基因rs2981582和rs1219648与乳腺癌相关性研究  

Association of FGFR2 Gene rs2981582 and rs1219648 Polymorphisms with the Risk of Breast Cancer

作　　者：潘琳[1] 胡小平 郭卫东[1] 刘春莲[1] 杨丽[1] 焦海燕[3,4] 

机构地区：[1]宁夏医科大学总医院,银川750004 [2]湖南省宁乡县人民医院检验科,宁乡410600 [3]宁夏医科大学生育力保持教育部重点实验室,宁夏生殖与遗传重点实验室,银川750004 [4]宁夏医科大学基础医学院医学遗传学与细胞生物学系,银川750004

出　　处：《宁夏医科大学学报》2014年第8期853-856,860,F0003,共6页Journal of Ningxia Medical University

基　　金：宁夏银川市科技攻关项目[银财发[2010]452号]

摘　　要：目的 探讨成纤维生长因子受体2（fibroblast growth factor receptor 2,FGFR2）基因第2内含子rs2981582和rs1219648及其单体型与女性乳腺癌的相关性,分析各多态性位点与乳腺癌临床特征的相关性.方法 采用病例-对照研究,PCR-RFLP方法检测203例乳腺癌患者和200例正常对照各位点基因型,分析各SNP及其单体型与乳腺癌的相关性、各位点的基因型分布与乳腺癌临床病理特征的相关性.结果 （1）rs2981582基因TT型在病例组分布频率明显高于对照组（OR=1.831,95％ CI=1.033～3.244,P=0.037）,rs1219648基因型频率在两组中的分布差异无统计学意义（P＞0.05）.（2）绝经后女性rs2981582基因TT型在病例组分布频率明显高于对照组（OR=2.659,95％CI=1.168～6.056,P=0.018）;rs1219648基因TT型在病例组分布频率明显高于对照组（OR =3.051,95％CI=1.383 ～ 6.734,P=0.005）.两位点多态性与乳腺癌临床特征的相关性分析结果表明差异无统计学意义（P＞0.05）.结论 （1） FGFR2 rs2981582可能与乳腺癌具有相关性;rs2981582和rs1219648可能与绝经后女性乳腺癌具有相关性.（2）FGFR2 rs2981582和rs1219648与乳腺癌病人的发病年龄、有无淋巴转移、雌激素受体、孕激素受体无相关性.Objective To investigate the correlation of FGFR2 s2981582 and rs1219648 polymorphisms to breast cancer risk,and test the association of the haplotypes that composed by each SNP with breast cancer risk. To investigate the potential association of FGFR2 polymorphisms and clinic characteristics with breastcancer risk. Methods The case - control study included 203 female sporadic breastcancer cases and 200 cancer - free controls. The PCR - PFLP assays were conducted to detectthe genotype of rs2981582 and rs1219648. Descriptive statistical analysis was performed by using SPSS 13.0 software, using X2 test and Odds Ratio for categorical variables. Results （ 1 ） There was significant difference of rs2981582 TY genotype distribution between cases and controls（ OR = 1. 831,95% CI = 1. 033 - 3. 244 ,P = 0. 037 ） ,but no difference in the genotype and allele frequency distribution of FGFR2 rs1219648 polymorphism between two groups （ P 〉 0.05 ）. （ 2 ） There were significant differences of FGFR2 rs2981582 and rsl219648 genotype distribution in postmenopausal women between case and groups （P 〈 0.05 ）. There was no significant association of clinic characteristics with breast cancer risk （P 〉 0.05 ）. Conclusion （ 1 ） FGFR2 rs2981582 might associate with breast cancer risk;rs2981582 and rs1219648 polymorphisms might associate with breast cancer risk in postmenopausal women. （2） There was no significant association of clinic characteristics with breast cancer risk of FGFR2 rs2981582 and and rs1219648.

关 键 词：乳腺癌 成纤维生长因子受体2 基因多态性 单体型 

分 类 号：R737.9[医药卫生—肿瘤]