江西汉族女性BRCA2基因单核苷酸多态性与散发性乳腺癌易感相关性研究  

Association study between single nucleotide polymorphism of BRCA2 and susceptibility to sporadic breast cancer in Han Chinese women from Jiangxi Province

作　　者：李欣[1] 胡妮娅[2] 杨学习[1] 李粉霞[1] 徐伟文[1,3] 李明[1,3] 

机构地区：[1]南方医科大学生物技术学院抗体工程研究所,广东广州510515 [2]南昌大学第一附属医院检验科,江西南昌330006 [3]中山大学达安基因股份有限公司,广东广州510665

出　　处：《中华肿瘤防治杂志》2011年第7期489-493,共5页Chinese Journal of Cancer Prevention and Treatment

基　　金：广州市科技攻关计划(2008A1-E4151)

摘　　要：目的：探讨BRCA2基因单核苷酸多态性（SNP）与江西汉族女性散发性乳腺癌易感性的关系。方法：利用Sequenom MassArray iPLEXGOLD系统对江西南昌大学第一附属医院散发性乳腺癌患者152倒和健康对照组165名的BRCA2基因编码区3个单核苷酸多态性位点（rs766173，rs144848．rs1801426）进行基因型检测，非条件Logistic回归分析。结果：rs766173位点基因型和等位基因型频率分布差异均有统计学意义（Х^2=-4．602，P-0．032；Х^2=4．097，P=0．043）。相对TT基因型，TG杂合型与TG＋GG型均能显著性增加乳腺癌发生的危险性，OR值（95％CI）分别为1．971（1．060～3．666）和1．934（1．052～3．555），P分别为0．032和0．034。相对等位基因T，等位基因G为易感等位基因，OR值为1．792（95％C1—1．012～3．172，P=0．045）。另外两个位点rs144848和rs1801426多态性分布频率在乳腺癌组和对照组之间差异无统计学意义。结论：rs766173位点基因多态性与江西地区汉族女性散发性乳腺癌易感性相关，另外两个多态性位点rs144848和rs1801426与江西地区女性散发性乳腺癌易感性无关。OBJECTIVE： To evaluate the relationship between single nucleotide polymorphisms （SNPs） of BRCA2 and susceptibili ty to sporadic breasl cancer in Han Chinese women from Jiangxi Province. METHODS： Three single nucleotide polymorphisms （rs766173, rs144848, rs1801426） from the coding regions of BRCA2 were detected by Sequenom MassArray iPLEX GOLD System in 152 sporadic breast cancer patients and 165 healthy comrols collected from the First Affiliated Hospital of Nanchang University. Data was analyzed by Chi-square test and Logistic regression analysis. RESULTS： The frequencies of genotypes （TT, TG, GG） of rs766173 were showing a significant difference in the distribution of the genotypes between breast cancer patients and healthy controls （Х^2=4.602,P=0.032）. The frequencies o（ the alleles （T,G） were showing also a significant difference in the allele frequence between them （7.2 =4. 097 ,P=0. 043）. The odds ration （OR） of TG and TG --GG were 1. 971（95%C1=1.060-3. 666） and 1. 934 （95%CI= 1.052-3. 555） with P value of 0.032 and 0. 034,respectively, in comparison with TT genotype. Compared with the allele T, the allele G was a risk allele with the odds ration of 1. 792（95%CI= 1.012--3. 172, P= 0. 015）. The frequencies of genotypes of rs144848 and rs1801426 had no significant difference between breast cancer patients and healthy controls. CONCLUSIONS： The polymor- phism of rs766173 is associated with the susceptibility to sporadic breast cancer in Han Chinese women from Jiangxi Province. The other two SNPs （rs144848 and rs1801426） have no association with risk of sporadic breast cancer.

关 键 词：乳腺肿瘤/流行病学 BRCA2 单核苷酸多态性 

分 类 号：R737.9[医药卫生—肿瘤]