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人类多种组织中基因调控变异的结构:MuTHER 研究。

The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.

机构信息

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom.

出版信息

PLoS Genet. 2011 Feb 3;7(2):e1002003. doi: 10.1371/journal.pgen.1002003.

Abstract

While there have been studies exploring regulatory variation in one or more tissues, the complexity of tissue-specificity in multiple primary tissues is not yet well understood. We explore in depth the role of cis-regulatory variation in three human tissues: lymphoblastoid cell lines (LCL), skin, and fat. The samples (156 LCL, 160 skin, 166 fat) were derived simultaneously from a subset of well-phenotyped healthy female twins of the MuTHER resource. We discover an abundance of cis-eQTLs in each tissue similar to previous estimates (858 or 4.7% of genes). In addition, we apply factor analysis (FA) to remove effects of latent variables, thus more than doubling the number of our discoveries (1,822 eQTL genes). The unique study design (Matched Co-Twin Analysis--MCTA) permits immediate replication of eQTLs using co-twins (93%-98%) and validation of the considerable gain in eQTL discovery after FA correction. We highlight the challenges of comparing eQTLs between tissues. After verifying previous significance threshold-based estimates of tissue-specificity, we show their limitations given their dependency on statistical power. We propose that continuous estimates of the proportion of tissue-shared signals and direct comparison of the magnitude of effect on the fold change in expression are essential properties that jointly provide a biologically realistic view of tissue-specificity. Under this framework we demonstrate that 30% of eQTLs are shared among the three tissues studied, while another 29% appear exclusively tissue-specific. However, even among the shared eQTLs, a substantial proportion (10%-20%) have significant differences in the magnitude of fold change between genotypic classes across tissues. Our results underline the need to account for the complexity of eQTL tissue-specificity in an effort to assess consequences of such variants for complex traits.

摘要

虽然已经有研究探索了一个或多个组织中的调控变异,但多组织中的组织特异性的复杂性尚未得到很好的理解。我们深入探讨了三个人类组织(淋巴母细胞系 (LCL)、皮肤和脂肪)中顺式调控变异的作用。这些样本(156 个 LCL、160 个皮肤、166 个脂肪)是从 MuTHER 资源中一组具有良好表型的健康女性双胞胎中同时获得的。我们在每个组织中发现了大量顺式-eQTLs,与之前的估计相似(858 个或 4.7%的基因)。此外,我们应用因子分析 (FA) 来去除潜在变量的影响,从而使我们的发现数量增加了一倍以上(1822 个 eQTL 基因)。独特的研究设计(匹配同卵双胞胎分析-MCTA)允许使用同卵双胞胎立即复制 eQTLs(93%-98%),并验证 FA 校正后 eQTL 发现的显著增加。我们强调了比较组织间 eQTL 的挑战。在验证了之前基于显著性阈值的组织特异性估计之后,我们展示了它们的局限性,因为它们依赖于统计能力。我们提出,组织共享信号的比例的连续估计以及对表达折叠变化的效应大小的直接比较是提供组织特异性的生物学现实观点的必要属性。在这个框架下,我们表明 30%的 eQTLs在研究的三种组织中共享,而另外 29%的 eQTLs则是组织特异性的。然而,即使在共享的 eQTLs中,相当一部分(10%-20%)在不同组织中基因型类别的折叠变化幅度上存在显著差异。我们的结果强调了需要考虑 eQTL 组织特异性的复杂性,以努力评估此类变体对复杂性状的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e48d/3033383/a5648b7edbd1/pgen.1002003.g001.jpg

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