Overlap of expression quantitative trait loci (eQTL) in human brain and blood.
Overlap of expression quantitative trait loci (eQTL) in human brain and blood.
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DOI：
10.1186/1755-8794-7-31
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发表时间：
2014-06-03
影响因子：
2.7
通讯作者：
Powell JE
中科院分区：
文献类型：
--
作者：
McKenzie M;Henders AK;Caracella A;Wray NR;Powell JE
表达数量性状位点（eQTL）是调控RNA转录物表达水平的基因组区域。全基因组关联研究（GWAS）已经发现了许多变异，通常在非编码区，具有未知的功能，而eQTL提供了这些变异可能影响可观察表型的可能机制。大脑等组织的有限获取和可用性导致使用血液作为eQTL分析的替代品。在这里，我们评估了在已发表的血液和脑组织研究中报道的eQTL的重叠，以评估血液作为脑组织在神经和精神疾病研究中的替代作用。8项已发表的大脑研究的表达QTL结果与一项涉及5311人的荟萃分析中确定的血液QTL进行了比较。我们通过使用高连锁不平衡的SNP代理与报道的eQTL来解释SNP平台和研究设计的差异。研究之间的重叠程度是通过确定在一项研究中确定的eQTL是否也在另一项研究中确定来计算的。在调整样本量差异后，脑和血液表达的eQTL重叠百分比范围为13 - 23%（平均19.2%）。在对大脑研究中，eQTL重叠范围在0 - 35%之间，使用从同一大脑区域收集的表达数据的研究发现了更高程度的重叠。我们的研究结果表明，只要有可能，就应该使用与所研究疾病的病理生理相关的组织进行转录分析。
Expression quantitative trait loci (eQTL) are genomic regions regulating RNA transcript expression levels. Genome-wide Association Studies (GWAS) have identified many variants, often in non-coding regions, with unknown functions and eQTL provide a possible mechanism by which these variants may influence observable phenotypes. Limited access and availability of tissues such as brain has led to the use of blood as a substitute for eQTL analyses. Here, we evaluate the overlap of eQTL reported in published studies conducted in blood and brain tissues to assess the utility of blood as an alternative to brain tissue in the study of neurological and psychiatric conditions. Expression QTL results from eight published brain studies were compared to blood eQTL identified in from a meta-analysis involving 5,311 individuals. We accounted for differences in SNP platforms and study design by using SNP proxies in high linkage disequilibrium with reported eQTL. The degree of overlap between studies was calculated by ascertaining if an eQTL identified in one study was also identified in the other study. The percentage of eQTL overlapping for brain and blood expression after adjusting for differences in sample size ranged from 13 - 23% (mean 19.2%). Amongst pairs of brain studies eQTL overlap ranged from 0 - 35%, with higher degrees of overlap found for studies using expression data collected from the same brain region. Our results suggest that whenever possible tissue specific to the pathophysiology of the disease being studied should be used for transcription analysis.
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