（1. 南方医科大学南方医院乳腺中心； 2. 南方医科大学生物技术学院）
摘要：为了探讨乳腺癌中外显性易感基因多态位点在中国人群中的分布及作用机制。针对乳腺癌中外显性易感基因8个多态性位点（ATM基因rs1800054, PALB2基因 rs180177102和 rs180177132, CHEK2 1100 delC, CHEK2 IVS2+1G>A, RAD50,RAD51基因 rs1801320,SNRPB基因rs6138178），利用Sequenom MassArray® iPLEX 平台在487例乳腺癌患者和522例健康对照进行基因分型。通过logistic 回归计算每个位点的OR值和95% CI。进而通过ER、PR进行分层分析。研究发现在8个多态位点中，6个（rs1800054, rs180177102, rs180177132, CHEK21100DELC, CHEK2IVS2+1G>A, RAD50）不具有多态性。RAD基因的rs1801320位点在山东人群中显示与乳腺癌易感性相关，并且与ER和PR状态相关。另外，SNRPB的rs6138178在广东人群中表现会增加乳腺癌的易感性、而会降低山东人群的易感性。结果表明中外显性易感基因多态位点在中国汉族人群中的比例较低，对中国汉族人群乳腺癌的发生贡献较小。 335
Association study of 8 moderate penetrance gene variants with breast cancer in Chinese population
CHEN Jun1, YANG Xuexi2
(1. breast center nanfang hospital, southern medical university, guangzhou, china; 2. school of biotechnology, southern medical university, guangzhou,china)
Foundations: This study was financially supported by the Research Fund for the Doctoral Program of Higher Education of China (Grant No. 20104433120016) and the National High Technology Research and Development Program of China (Grant no. 2012AA020205) Brief author introduction:陈军(1986-),男,硕士研究生,乳腺癌 Correspondance author: 杨学习,男,副教授,遗传与表观遗传.
Abstract: In this paper, 8 tag SNP markers (rs1800054 in ATM, rs180177102 and rs180177132 in PALB2, CHEK2 1100 delC, CHEK2 IVS2+1G>A, RAD50, rs1801320 in RAD51, rs6138178 in SNRPB), which all belonged to moderate penetrance genes, were detected via Sequenom MassArray®iPLEX System in 487 breast cancer patients and 522 healthy controls. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratified analyses according to geographical region and the status of Estrogen Receptor (ER) and Progesterone Receptor (PR), were also performed. Among these 8 SNPs, 6 variants (rs1800054, rs180177102, rs180177132, CHEK21100DELC, CHEK2IVS2+1G>A, RAD50) were not polymorphisms at all. The remaining 2 variants (rs1801320 and rs6138178) did not show statistically significant differences between the case and control groups in this Han Chinese population. However, rs1801320, a variant of RAD51, shows significant association with the risk of breast cancer in Shandong population. In addition to this, rs1801320 was association with both ER-positive and PR-positive breast cancer. Meanwhile, rs6138178 on SNRPB increased the risk of breast cancer in Guangdong population, however, decreased in Shandong population. These results indicate although no breast cancer risk alleles in moderate penetrance susceptibility gene were found in present population, rs1801320 in RAD51 and rs6138178 on SNRPB are significant association with breast cancer risk in specific region.
Key words: Breast cancer; moderate penetrance; Chinese Han population; susceptibility
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