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利用 SNP 基因分型阵列检测前列腺癌相关拷贝数变异。

Detection of prostate cancer related copy number variations with SNP genotyping array.

机构信息

Department of Endocrinology, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China.

出版信息

Eur Rev Med Pharmacol Sci. 2013 Nov;17(21):2916-22.

PMID:24254561
Abstract

AIM

Prostate cancer is characterized by the accumulation of multiple copy number variants (CNVs) across the genome. We aim to identify potential prostate cancer related CNVs.

MATERIALS AND METHODS

Whole-genome SNP genotyping data of 18 prostate cancer patients was downloaded from the GEO (Gene Expression Omnibus) database. PennCNV was used to detect CNVs. All genes and miRNAs affected by CNVs were annotated. We also identified biological processes where these genes over-represented to capture the characteristics of prostate cancer.

RESULTS

Dominance of deletions was identified in all subjects. A total of 131 genes and 2 miRNAs which were affected by CNVs supported by at least two samples were detected. Over-representations of biological processes related with immune or inflammation response and cell cycle were identified. Two miRNAs, hsa-miR-1302 and hsa-miR-548j, were affected by CNVs and their target genes were reported to be related with prostate cancer according to the Mendelian Inheritance in Man database.

CONCLUSIONS

We identified genes known to be affected by prostate cancer associated CNVs in previous studies; we also identified new genes and miRNAs not reported as interesting. The discoveries in this study may advance the knowledge of the prostate cancer pathogenesis.

摘要

目的

前列腺癌的特征是基因组中存在多个拷贝数变异(CNVs)的积累。我们旨在确定潜在的与前列腺癌相关的 CNVs。

材料和方法

从 GEO(基因表达综合数据库)数据库下载了 18 名前列腺癌患者的全基因组 SNP 基因分型数据。使用 PennCNV 检测 CNVs。注释了受 CNVs 影响的所有基因和 miRNA。我们还确定了这些基因过度表达的生物过程,以捕获前列腺癌的特征。

结果

在所有受试者中均发现缺失为主导。总共检测到 131 个基因和 2 个 miRNA,这些基因受到至少两个样本支持的 CNVs 的影响。鉴定到与免疫或炎症反应和细胞周期相关的生物过程的过度表达。两个 miRNA,hsa-miR-1302 和 hsa-miR-548j,受到 CNVs 的影响,根据孟德尔遗传在线数据库,其靶基因被报道与前列腺癌有关。

结论

我们鉴定到了之前研究中已知受前列腺癌相关 CNVs 影响的基因;我们还鉴定到了一些新的基因和 miRNA,它们之前没有被报道为有趣的基因。本研究的发现可能会推进前列腺癌发病机制的知识。

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