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An eQTL analysis of the human glioblastoma multiforme genome

机译：人胶质母细胞瘤多形基因组的eQTL分析

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In this paper we use eQTL mapping to identify associations between gene dysregulation and single nucleotide polymorphism (SNP) genotypes in glioblastoma multiforme (GBM). A set of 532,954 SNPs was evaluated as predictors of the expression levels of 22,279 expression probes. We identified SNPs associated with fold change in expression level rather than raw expression levels in the tumor. Following adjustment for false discovery rate, the complete set of probes yielded 9257 significant associations (p<. 0.05). We found 18 eQTLs that were missense mutations. Many of the eQTLs in the non-coding regions of a gene, or linked to nearby genes, had large numbers of significant associations (e.g. 321 for RNASE3, 101 for BNC2). Functional enrichment analysis revealed that the expression probes in significant associations were involved in signal transduction, transcription regulation, membrane function, and cell cycle regulation. These results suggest several loci that may serve as hubs in gene regulatory pathways associated with GBM.
机译：在本文中，我们使用eQTL映射来鉴定多形性胶质母细胞瘤（GBM）中基因失调与单核苷酸多态性（SNP）基因型之间的关联。评估一组532,954个SNP作为22,279个表达探针表达水平的预测因子。我们鉴定了与肿瘤中表达水平而不是原始表达水平倍数变化相关的SNP。调整错误发现率后，整套探针产生了9257个显着关联（p <。0.05）。我们发现了18个eQTL，它们都是错义突变。一个基因的非编码区域中的许多eQTL或与附近基因相关的eQTL具有大量的显着关联（例如RNASE3为321，BNC2为101）。功能富集分析表明，表达探针之间的显着相关性涉及信号转导，转录调控，膜功能和细胞周期调控。这些结果表明，几个基因座可能充当与GBM相关的基因调控途径的枢纽。

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