Genetic effects on gene expression across human tissues.
Genetic effects on gene expression across human tissues.
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遗传对人体组织基因表达的影响。
DOI：
10.1038/nature24277
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发表时间：
2017-10-11
期刊：
影响因子：
64.8
通讯作者：
Montgomery SB
中科院分区：
文献类型：
--
作者：
GTEx Consortium;Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group;Statistical Methods groups—Analysis Working Group;Enhancing GTEx (eGTEx) groups;NIH Common Fund;NIH/NCI;NIH/NHGRI;NIH/NIMH;NIH/NIDA;Biospecimen Collection Source Site—NDRI;Biospecimen Collection Source Site—RPCI;Biospecimen Core Resource—VARI;Brain Bank Repository—University of Miami Brain Endowment Bank;Leidos Biomedical—Project Management;ELSI Study;Genome Browser Data Integration &Visualization—EBI;Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz;Lead analysts:;Laboratory, Data Analysis &Coordinating Center (LDACC):;NIH program management:;Biospecimen collection:;Pathology:;eQTL manuscript working group:;Battle A;Brown CD;Engelhardt BE;Montgomery SB
表征人类基因组的分子功能及其在不同个体之间的变异，对于确定构成人类遗传特征和疾病的细胞机制至关重要。基因类型-组织表达(GTEx)项目旨在描述不同个体和人体不同组织中基因表达水平的差异，其中许多组织很难获得。在这里，我们描述了遗传效应对44个人类组织的基因表达水平的影响。我们发现局部遗传变异影响了大多数基因的基因表达水平，并进一步识别了93个基因和112个座位的染色体间遗传效应。在已识别的遗传效应的基础上，我们描述了组织特异性的模式，比较了局部和远端效应，并评估了遗传效应的功能特性。我们还证明，多组织、多个体数据可以用于识别受人类疾病相关变异影响的基因和途径，从而能够从机制上解释基因调控和疾病的遗传基础。
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease.
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影响因子：
12.3
作者：
Castel SE;Levy-Moonshine A;Mohammadi P;Banks E;Lappalainen T
通讯作者：
Lappalainen T
来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
64.5
作者：
Cancer Genome Atlas Research Network
通讯作者：
Cancer Genome Atlas Research Network
影响因子：
7
作者：
Battle A;Mostafavi S;Zhu X;Potash JB;Weissman MM;McCormick C;Haudenschild CD;Beckman KB;Shi J;Mei R;Urban AE;Montgomery SB;Levinson DF;Koller D
通讯作者：
Koller D
影响因子：
4.5
作者：
Brown CD;Mangravite LM;Engelhardt BE
通讯作者：
Engelhardt BE