文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

人口统计学和遗传学因素影响人类组织中浸润免疫细胞的丰度。

Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues.

机构信息

Tri-Institutional Program in Computational Biology & Medicine, Weill Cornell Medicine, New York, NY, USA.

Institute of Computational Biomedicine, Weill Cornell Medicine, New York, NY, USA.

出版信息

Nat Commun. 2020 May 5;11(1):2213. doi: 10.1038/s41467-020-16097-9.


DOI:10.1038/s41467-020-16097-9
PMID:32371927
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7200670/
Abstract

Despite infiltrating immune cells having an essential function in human disease and patients' responses to treatments, mechanisms influencing variability in infiltration patterns remain unclear. Here, using bulk RNA-seq data from 46 tissues in the Genotype-Tissue Expression project, we apply cell-type deconvolution algorithms to evaluate the immune landscape across the healthy human body. We discover that 49 of 189 infiltration-related phenotypes are associated with either age or sex (FDR < 0.1). Genetic analyses further show that 31 infiltration-related phenotypes have genome-wide significant associations (iQTLs) (P < 5.0 × 10), with a significant enrichment of same-tissue expression quantitative trait loci in suggested iQTLs (P < 10). Furthermore, we find an association between helper T cell content in thyroid tissue and a COMMD3/DNAJC1 regulatory variant (P = 7.5 × 10), which is associated with thyroiditis in other cohorts. Together, our results identify key factors influencing inter-individual variability of immune infiltration, to provide insights on potential therapeutic targets.

摘要

尽管浸润免疫细胞在人类疾病和患者对治疗的反应中具有重要功能,但影响浸润模式变异性的机制仍不清楚。在这里,我们使用来自基因型-组织表达项目的 46 种组织的批量 RNA-seq 数据,应用细胞类型去卷积算法来评估整个健康人体的免疫景观。我们发现,189 种与浸润相关的表型中有 49 种与年龄或性别相关(FDR<0.1)。遗传分析进一步表明,31 种与浸润相关的表型具有全基因组显著关联(iQTLs)(P<5.0×10),在提示 iQTL 中存在相同组织表达数量性状基因座的显著富集(P<10)。此外,我们发现甲状腺组织中辅助性 T 细胞含量与 COMMD3/DNAJC1 调节变异体之间存在关联(P=7.5×10),该关联在其他队列中与甲状腺炎有关。总之,我们的研究结果确定了影响免疫浸润个体间变异性的关键因素,为潜在的治疗靶点提供了见解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/2cf1077b131c/41467_2020_16097_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/78f9327cffb4/41467_2020_16097_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/971657f033c4/41467_2020_16097_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/5102aa587245/41467_2020_16097_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/00be2e230a4f/41467_2020_16097_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/2cf1077b131c/41467_2020_16097_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/78f9327cffb4/41467_2020_16097_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/971657f033c4/41467_2020_16097_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/5102aa587245/41467_2020_16097_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/00be2e230a4f/41467_2020_16097_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/240c/7200670/2cf1077b131c/41467_2020_16097_Fig5_HTML.jpg

相似文献

[1]
Demographic and genetic factors influence the abundance of infiltrating immune cells in human tissues.

Nat Commun. 2020-5-5

[2]
Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases.

Hum Mol Genet. 2017-9-1

[3]
Exploring regulation in tissues with eQTL networks.

Proc Natl Acad Sci U S A. 2017-8-29

[4]
Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases.

Cell. 2021-5-27

[5]
A mega-analysis of expression quantitative trait loci in retinal tissue.

PLoS Genet. 2020-9-1

[6]
Analysis of Bulk RNA Sequencing Data Reveals Novel Transcription Factors Associated With Immune Infiltration Among Multiple Cancers.

Front Immunol. 2021

[7]
Meta-Analysis of Transcriptome-Wide Association Studies across 13 Brain Tissues Identified Novel Clusters of Genes Associated with Nicotine Addiction.

Genes (Basel). 2021-12-23

[8]
Cell-Type Heterogeneity in Adipose Tissue Is Associated with Complex Traits and Reveals Disease-Relevant Cell-Specific eQTLs.

Am J Hum Genet. 2019-5-23

[9]
Gene expression pattern analysis using dual-color RT-MLPA and integrative genome-wide association studies of eQTL for tuberculosis suscepitibility.

Respir Res. 2021-1-20

[10]
Population- and individual-specific regulatory variation in Sardinia.

Nat Genet. 2017-5

引用本文的文献

[1]
Immune cell composition is an important contributor to epigenetic age variation.

Epigenomics. 2025-4

[2]
Single-cell and machine learning approaches uncover intrinsic immune-evasion genes in the prognosis of hepatocellular carcinoma.

Liver Res. 2024-11-12

[3]
Developmental-status-aware transcriptional decomposition establishes a cell state panorama of human cancers.

Genome Med. 2024-10-28

[4]
Multi-Omics Profiling Unveils the Complexity and Dynamics of Immune Infiltrates in Intrahepatic Cholangiocarcinoma.

Biology (Basel). 2024-10-11

[5]
HSPD1 Supports Osteosarcoma Progression through Stabilizing ATP5A1 and thus Activation of AKT/mTOR Signaling.

Int J Biol Sci. 2024

[6]
Prognostic and immunotherapeutic significances of M2 macrophage-related genes signature in lung cancer.

J Cancer. 2024-7-22

[7]
An immunogenetic basis for lung cancer risk.

Science. 2024-2-23

[8]
ARID1A Deficiency Regulates Anti-Tumor Immune Response in Esophageal Adenocarcinoma.

Cancers (Basel). 2023-11-12

[9]
Human endogenous retroviruses of the HERV-K (HML-2) family are expressed in the brain of healthy individuals and modify the composition of the brain-infiltrating immune cells.

Heliyon. 2023-10-20

[10]
Dynamic network-guided CRISPRi screen identifies CTCF-loop-constrained nonlinear enhancer gene regulatory activity during cell state transitions.

Nat Genet. 2023-8

本文引用的文献

[1]
RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues.

Science. 2019-6-7

[2]
Cell-Type Heterogeneity in Adipose Tissue Is Associated with Complex Traits and Reveals Disease-Relevant Cell-Specific eQTLs.

Am J Hum Genet. 2019-5-23

[3]
Determining cell type abundance and expression from bulk tissues with digital cytometry.

Nat Biotechnol. 2019-5-6

[4]
Essential Gene Profiles for Human Pluripotent Stem Cells Identify Uncharacterized Genes and Substrate Dependencies.

Cell Rep. 2019-4-9

[5]
A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape.

Nat Immunol. 2019-3-4

[6]
A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis.

Nat Genet. 2019-1-14

[7]
Germline genetic polymorphisms influence tumor gene expression and immune cell infiltration.

Proc Natl Acad Sci U S A. 2018-11-21

[8]
Histopathological Image QTL Discovery of Immune Infiltration Variants.

iScience. 2018-7-27

[9]
Pan-cancer deconvolution of tumour composition using DNA methylation.

Nat Commun. 2018-8-13

[10]
Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines.

Genome Med. 2018-7-27

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索