VARS2基因单核苷酸多态性和广东汉族女性散发性乳腺癌相关性研究  

Association of SNP in VARS2 gene with susceptibility of sporadic breast cancer in Guangdong women of Han nationality

作　　者：黄传蔷 杨学习[2] 李粉霞[2] 刘民锋 郭昭泽 董建宇 叶长生 

机构地区：[1]南方医院乳腺科 [2]南方医科大学生物技术学院抗体工程研究所,广州510515

出　　处：《免疫学杂志》2012年第11期964-967,共4页Immunological Journal

摘　　要：目的探讨VARS2(valyl-tRNA synthetase 2)基因中单核苷酸多态性位点(single nucleotide polymorphisms,SNP)rs2249464与广东省汉族女性散发性乳腺癌的相关性。方法采用MassARRAY-IPLEX SNP分型技术,以南方医科大学南方医院的216例广东汉族乳腺癌患者及216例同期健康体检者为研究对象,对rs2249464多态性位点进行基因分型,利用χ2检验统计分析病例组和对照组的基因型频率有无差异,利用非条件Logistic回归计算比数比(odds ratio,OR)和95%可信区间(confidence interval,CI)来评价此位点多态性与乳腺癌的相关性。然后进一步将病例组按雌激素受体(estrogen receptor,ER)和孕激素受体(progesterone receptor,PR)免疫组化结果行分层分析。结果 rs2249464位点C/C,C/T,T/T 3种基因型分布在对照组和病例组之间有统计学差异。根据免疫组化情况进一步分层分析结果表明rs2249464的基因型分布在ER阳性/阴性组之间的差异无统计学意义(P>0.05);但在PR阳性/阴性组之间的差异有统计学意义(P<0.05)。结论 VARS2基因rs2249464位点单核苷酸多态性与广东汉族散发性乳腺癌的易感性具有相关性,且携带T/T基因型的患者更容易罹患PR阴性乳腺癌。This study aimed to investigate the correlation of single nucleotide polymorphisms in VARS2（rs2249464） with susceptibility of sporadic breast cancer in Guangdong women of Han nationality.A case-control study consisting of 216 breast cancer patients and 216 healthy controls was performed using the Sequenom MassARRAY-IPLEX platform and MALDI-TOF-MS technique.Association was analyzed by Chi-square and unconditional logistic regression,and further stratified analysis was performed based on the Immunohistochemical results of estrogen receptor（ER） and progesterone receptor（PR）.We found there was a significant difference of the frequencies between the genotype of rs2249464（VARS2） in the case group and the control group（P 〈 0.05）.The frequencies of genotype were not significantly different in the ER（-） and ER（＋） groups（P 〉 0.05）,while there was a significant difference of the frequencies between the PR（-） and PR（＋） groups（P 〈 0.05）.All the results above suggested that the polymorphism of rs2249464 in VARS2 might associate with the susceptibility of sporadic breast cancer in Guangdong women of Han nationality,and those breast cancer patients carrying T/T genotype could be more likely to have a PR（-） breast cancer.

关 键 词：单核苷酸多态性 乳腺癌 VARS2 雌激素受体 孕激素受体 

分 类 号：R737.9[医药卫生—肿瘤]