（1. 南方醫科大學南方醫院乳腺中心； 2. 南方醫科大學生物技術學院）
摘要：為了探討乳腺癌中外顯性易感基因多態位點在中國人群中的分布及作用機制。針對乳腺癌中外顯性易感基因8個多態性位點（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 平臺在487例乳腺癌患者和522例健康對照進行基因分型。通過logistic 回歸計算每個位點的OR值和95% CI。進而通過ER、PR進行分層分析。研究發現在8個多態位點中，6個（rs1800054, rs180177102, rs180177132, CHEK21100DELC, CHEK2IVS2+1G>A, RAD50）不具有多態性。RAD基因的rs1801320位點在山東人群中顯示與乳腺癌易感性相關，并且與ER和PR狀態相關。另外，SNRPB的rs6138178在廣東人群中表現會增加乳腺癌的易感性、而會降低山東人群的易感性。結果表明中外顯性易感基因多態位點在中國漢族人群中的比例較低，對中國漢族人群乳腺癌的發生貢獻較小。 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:陳軍(1986-),男,碩士研究生,乳腺癌 Correspondance author: 楊學習,男,副教授,遺傳與表觀遺傳.
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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