淋巴细胞弱化因子基因多态性与乳腺癌发病风险研究  

BTLA Gene Polymorphism and Its Association with the Risk of Breast Cancer in Heilongjiang Province

作　　者：李大林[1] 傅振坤[2] 章婕[2] 庞达[3] 

机构地区：[1]哈尔滨医科大学附属肿瘤医院外科教研室,哈尔滨市150086 [2]哈尔滨医科大学免疫教研室 [3]哈尔滨医科大学肿瘤研究所

出　　处：《中国肿瘤临床》2009年第14期812-815,共4页Chinese Journal of Clinical Oncology

基　　金：黑龙江省教育厅面上基金(编号:11541180);黑龙江省教育厅博士创新基金资助(编号:YJSCX2009-22HLJ)

摘　　要：目的:探讨B及T淋巴细胞弱化因子(B and T Lymphocyte attenuator,BTLA)SNP位点在黑龙江省妇女乳腺癌患者及正常对照人群中的基因型和等位基因频率;确定BTLA基因与黑龙江省妇女乳腺癌发病风险的相关性。方法:抽取280例乳腺癌患者及262例健康女性外周血5mL,试剂盒提取DNA后,利用聚合酶链式反应限制性片段长度多态性(polymerase chain reaction restriction fragment length polymorphism,PCR-RFLP)技术进行BTLA基因外显子及内含子的SNP位点DNA扩增,检测BTLA基因位点多态性,分析患者与正常对照差别,进而确定该基因与黑龙江省妇女乳腺癌的相关性。结果:乳腺癌患者的BTLA基因外显子及内含子中杂合子基因型高于正常对照者,有统计学差异(P<0.05,OR>1.00),内含子中rs2705535 GG基因型乳腺癌患者组中的基因频率低于正常对照组(P<0.05,OR<1.00),A等位基因在乳腺癌患者中频率高于正常对照组(P<0.05,OR>1.00),具有统计学意义。结论:BT-LA基因多态性与黑龙江省妇女乳腺癌发病风险存在一定关联性。Objective： To investigate the genotype and allele frequency of BTLA gene in breast cancer patients and healthy controls and to explore the association between the polymorphism of BTLA gene and the risk of breast cancer in the populati,on of Heilongjiang province. Methods： A total of 280 patients with breast cancer and 262 normal control subjects were included in the study. We genotyped the single nucleotide polymorphisms of three SNPs in BTLA gene using PCR-RFLP and analyzed the differences between breast cancer patients and normal controls. Results： Three heterozygotes in BTLA gene SNP loci and an allele in intron （rs2705535） were significantly different between breast cancer patients and healthy controls （P〈0.05, OR〉 1.00） and the frequency in breast cancer patients was higher than that in the controls. There was significant differences in intron （rs2705535） SNP genotype GG between breast cancer patients and healthy controls （P〈 0.05, OR〈1.00） and the frequency in breast cancer patients was lower than that in the controls. No significant difference in the genotype and allele frequencies in other SNPs locus between breast cancer patients and healthy controls. Conclusion： The polymorphism in BTLA gene may be related to the risk of breast cancer in the population of Heilongjiang Province, China.

关 键 词：B及T淋巴细胞弱化因子 乳腺癌 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]