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遗传调控的肝脏转录物和途径协调血液学、生化和身体成分特征。

Genetically regulated hepatic transcripts and pathways orchestrate haematological, biochemical and body composition traits.

机构信息

Research Unit 'Functional Genome Analysis', Leibniz Institute for Farm Animal Biology (FBN), Wilhelm-Stahl-Allee 2, D-18196 Dummerstorf, Germany.

Research Unit 'Genomics', Leibniz Institute for Farm Animal Biology (FBN), Wilhelm-Stahl-Allee 2, D-18196 Dummerstorf, Germany.

出版信息

Sci Rep. 2016 Dec 21;6:39614. doi: 10.1038/srep39614.

Abstract

The liver is the central metabolic organ and exhibits fundamental functions in haematological traits. Hepatic expression, haematological, plasma biochemical, and body composition traits were assessed in a porcine model (n = 297) to establish tissue-specific genetic variations that influence the function of immune-metabolism-correlated expression networks. At FDR (false discovery rate) <1%, more than 3,600 transcripts were jointly correlated (r = |0.22-0.48|) with the traits. Functional enrichment analysis demonstrated common links of metabolic and immune traits. To understand how immune and metabolic traits are affected via genetic regulation of gene expression, eQTLs were assessed. 20517 significant (FDR < 5%) eQTLs for 1401 transcripts were identified, among which 443 transcripts were associated with at least one of the examined traits and had cis-eQTL (such as ACO1 (6.52 × 10) and SOD1 (6.41 × 10). The present study establishes a comprehensive view of hepatic gene activity which links together metabolic and immune traits in a porcine model for medical research.

摘要

肝脏是中央代谢器官,在血液学特征中表现出基本功能。在猪模型中评估了肝脏表达、血液学、血浆生化和身体成分特征,以确定影响免疫代谢相关表达网络功能的组织特异性遗传变异。在 FDR(错误发现率)<1%时,超过 3600 个转录本与这些特征共同相关(r=|0.22-0.48|)。功能富集分析表明代谢和免疫特征存在共同联系。为了了解免疫和代谢特征如何受到基因表达遗传调控的影响,评估了 eQTL。鉴定出 1401 个转录本的 20517 个显著(FDR<5%)eQTL,其中 443 个转录本与至少一种检查特征相关,并且具有 cis-eQTL(例如 ACO1(6.52×10)和 SOD1(6.41×10)。本研究建立了一个全面的肝脏基因活性视图,将猪模型中的代谢和免疫特征联系在一起,用于医学研究。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5ab9/5175187/793b2bbd6161/srep39614-f1.jpg

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