Evidence map›Paper›PMID 36216496›Full record

ArticleThorax2023

Integrative analyses for the identification of idiopathic pulmonary fibrosis-associated genes and shared loci with other diseases.

Ming Chen, Yiliang Zhang, Taylor Adams, Dingjue Ji, Wei Jiang, Louise V Wain, Michael Cho, Naftali Kaminski, Hongyu Zhao

Open access · greenAbstract read
In one paragraph

Article in Thorax, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.4field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Multi-omics insights into the mechanisms and prognosis of IPF.Genes and environment : the official journal of the Japanese Environmental Mutagen Society · 2026
    Review
  3. Article
  4. Review
  5. Observational
  6. Review
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 3 institutions in 3 countries.

Ming ChenBiostatistics, Yale University School of Public Health, New Haven, Connecticut, USA.
Yiliang ZhangBiostatistics, Yale University School of Public Health, New Haven, Connecticut, USA.
Taylor AdamsSection of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.
Dingjue JiProgram of Computational Biology and Bioinformatics, Yale University, New Haven, Connecticut, USA.
Wei JiangBiostatistics, Yale University School of Public Health, New Haven, Connecticut, USA.
Louise V WainNational Institute for Health Research, Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK.
Michael ChoChanning Division of Network Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.ORCID http://orcid.org/0000-0002-4907-1657
Naftali KaminskiSection of Pulmonary, Critical Care and Sleep Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.ORCID http://orcid.org/0000-0001-5917-4601
Hongyu ZhaoBiostatistics, Yale University School of Public Health, New Haven, Connecticut, USA hongyu.zhao@yale.edu.
Yale University · USBrigham and Women's Hospital · USUniversity of Leicester · GB

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
(2 of 2) Genetic Epidemiology of COPDR01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2012 to 2016
$18.9M
Genetic and Genomic Characterization of the Occurrence and Progression of Interstitial Lung AbnormalitiesR01HL135142 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI MICHAEL H. CHO, GARY MATTHEW HUNNINGHAKE · 2017 to 2026
$7.7M
Genomic Analysis of Tissue and Cellular Heterogeneity in IPFR01HL127349 · NHLBI · YALE UNIVERSITY · PI BENOS, PANAGIOTIS V, KAMINSKI, NAFTALI · 2015 to 2025
$5.9M
Genetic and Functional Dissection of a Cluster of COPD GWAS Signals on Chromosome 4qR01HL147148 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2019 to 2022
$3.5M
Identifying functional variants in COPD GWAS lociR01HL137927 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., SILVERMAN, EDWIN K · 2017 to 2020
$3.5M
Epithelial Protective Effects of Thyroid Hormone Signaling in FibrosisR01HL141852 · NHLBI · YALE UNIVERSITY · PI KAMINSKI, NAFTALI · 2019 to 2022
$3.4M
Normal Aging Lung Cell Atlas (NALCA)U01HL145567 · NHLBI · YALE UNIVERSITY · PI KAMINSKI, NAFTALI · 2019 to 2022
$2.8M
Mir-29 mimicry as a therapy for pulmonary fibrosisUH2HL123886 · NHLBI · YALE UNIVERSITY · PI KAMINSKI, NAFTALI · 2014 to 2015
$2.7M
Novel statistical methods and tools to integrate multiple endophenotypes and functional annotation data to study the roles of rare variants in complex human diseases using sequencing dataR01GM134005 · NIGMS · YALE UNIVERSITY · PI WU, BAOLIN, ZHAO, HONGYU · 2020 to 2023
$1.6M
Medical Research Council MC_PC_17228Medical Research Council MC_QA137853NCATS NIH HHS UL1 TR001863NHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL127349NHLBI NIH HHS R01 HL135142NHLBI NIH HHS R01 HL137927NHLBI NIH HHS R01 HL141852NHLBI NIH HHS R01 HL147148NHLBI NIH HHS U01 HL145567NHLBI NIH HHS UH2 HL123886NIGMS NIH HHS R01 GM134005Wellcome Trust 225221
6 · The paper itself

Abstract

backgroundAlthough genome-wide association studies (GWAS) have identified many genomic regions associated with idiopathic pulmonary fibrosis (IPF), the causal genes and functions remain largely unknown. Many single-cell expression data have become available for IPF, and there is increasing evidence suggesting a shared genetic basis between IPF and other diseases.

methodsWe conducted integrative analyses to improve the power of GWAS. First, we calculated global and local genetic correlations to identify IPF genetically associated traits and local regions. Then, we prioritised candidate genes contributing to local genetic correlation. Second, we performed transcriptome-wide association analysis (TWAS) of 44 tissues to identify candidate genes whose genetically predicted expression level is associated with IPF. To replicate our findings and investigate the regulatory role of the transcription factors (TF) in identified candidate genes, we first conducted the heritability enrichment analysis in TF binding sites. Then, we examined the enrichment of the TF target genes in cell-type-specific differentially expressed genes (DEGs) identified from single-cell expression data of IPF and healthy lung samples.

findingsWe identified 12 candidate genes across 13 genomic regions using local genetic correlation, including the

interpretationOur integrative analysis identified new genes for IPF susceptibility and expanded the understanding of the complex genetic architecture and disease mechanism of IPF.

Indexed as

Genetic Predisposition to DiseaseIdiopathic Pulmonary FibrosisCase-Control StudiesGenome-Wide Association StudyHumansLungTranscription FactorsTranscription Factorsidiopathic pulmonary fibrosis

Identifiers

PMID36216496
PMCPMC10083187
OpenAlexW4304098222

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.