南方医科大学学报

南方医科大学学报 ›› 2014, Vol. 34 ›› Issue (06): 807-.

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大样本芯片数据分析亚洲人乳腺癌差异表达基因及可能信号通路

陈路嘉，叶长生，黄仲曦，李欣，姚广裕，刘民锋，胡晓磊，董建宇，郭昭泽   

  • 出版日期:2014-06-20 发布日期:2014-06-20

Differentially expressed genes and potential signaling pathway in Asian people with
breast cancer by preliminary analysis of a large sample of the microarray data

  • Online:2014-06-20 Published:2014-06-20

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摘要： 目的初步分析亚洲人乳腺癌差异表达基因及可能涉及的信号通路。方法从GEO数据库下载5套亚洲人乳腺癌基因芯
片数据集（GSE6367、GSE9309、GSE15852、GSE33447和GSE45255），共获得318例乳腺癌和60例正常乳腺组织的基因表达谱
数据，进行基因差异表达谱和信号通路分析，并用荧光定量PCR法检测32对乳腺癌患者癌和癌旁标本，验证其中部分基因的差
异表达。结果大样本芯片数据分析显示，436 个基因在乳腺癌组织出现差异表达，其中上调的有259 个，下调的有177 个。
Pathway 分析发现代谢相关的信号通路可能参与了亚洲人乳腺癌发生发展过程。经荧光定量PCR验证，KRT19、ADIPOQ、
CFD、RBP4、LPL、ABCA8、CD36基因表达情况与芯片数据分析结果一致。结论本研究比较完整地揭示了亚洲人乳腺癌基因
差异表达谱特征和所涉及的重要信号通路，其中CD36基因可能与亚洲人乳腺癌发病密切相关，ABCA8基因可能是亚洲人乳腺
癌新的致病基因。

Abstract: Objective To screen differentially expressed genes and identify potential signaling pathway in Asian people with
breast cancer. Methods Five gene microarray datasets of Asian people with breast cancer, GSE6367, GSE9309, GSE15852,
GSE33447 and GSE45255, were downloaded from GEO. Microarrays with 318 breast cancer and 60 normal breast tissues were
used for analysis of differentially expressed genes and pathway. 32 pairs of breast cancer patients’ specimens were used to
validate the differentially expressed genes by real-time PCR. Results Analysis of the large sample of microarray data identified
436 differentially expressed genes in breast cancer tissues, while 259 of these genes were up-regulated and the other 177
down-regulated. Pathway analysis showed that metabolism-related signaling pathway may be involved in the development of
breast cancer in Asian people. The expressions of KRT19, ADIPOQ, CFD, RBP4, LPL, ABCA8 and CD36 genes were confirmed
by real-time PCR. Conclusion This study shows differential gene expression profile and potential signaling pathway in Asian
people with breast cancer. CD36 gene may be closely related to the Asian breast cancer. ABCA8 gene may be a new disease
gene in Asian breast cancer.