Evidence map›Paper›PMID 41366429›Full record

ArticleBMC medical genomics2025

Hair follicle gene expression profiling in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS).

Kristina L Buschur, Molly Martorella, Renee Garcia-Flores, Benjamin M Smith, Marcello Ziosi, Igor Barjaktarevic, Eugene R Bleecker, Stephanie A Christenson, Alejandro P Comellas, Gerard J Criner and 11 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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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

1 citing paper in PubMed.

  1. Review
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

21 authors.

Kristina L BuschurDepartment of Medicine, Columbia University Medical Center, New York, NY, USA. klb2210@cumc.columbia.edu.
Molly MartorellaNew York Genome Center, New York, NY, USA.
Renee Garcia-FloresNew York Genome Center, New York, NY, USA.
Benjamin M SmithDepartment of Medicine, Columbia University Medical Center, New York, NY, USA.
Marcello ZiosiNew York Genome Center, New York, NY, USA.
Igor BarjaktarevicDepartment of Medicine, University of California Los Angeles, Los Angeles, CA, USA.
Eugene R BleeckerDivision of Genetics, Genomics, and Precision Medicine, Department of Medicine, University of Arizona, Tucson, AZ, USA.
Stephanie A ChristensonDivision of Pulmonary, Critical Care, Allergy, & Sleep Medicine, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
Alejandro P ComellasDepartment of Internal Medicine, University of Iowa, Iowa City, IA, USA.
Gerard J CrinerDepartment of Pulmonary and Critical Care Medicine, Temple University, Philadelphia, PA, USA.
Mark T DransfieldDivision of Pulmonary, Allergy and Critical Care Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.
Nadia N HanselDivision of Pulmonary and Critical Care Medicine, Department of Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
Robert J KanerDivision of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Weill Cornell Medicine, New York, NY, USA.
Jerry A KrishnanDivision of Pulmonary, Critical Care, Sleep, and Allergy, University of Illinois Chicago, Chicago, IL, USA.
Deborah A MeyersDivision of Genetics, Genomics, and Precision Medicine, Department of Medicine, University of Arizona, Tucson, AZ, USA.
Elizabeth C OelsnerDepartment of Medicine, Columbia University Medical Center, New York, NY, USA.
Victor E OrtegaDivision of Pulmonary and Critical Care Medicine, Mayo Clinic, Phoenix, AZ, USA.
Robert PaineDivision of Respiratory, Critical Care and Occupational Medicine, University of Utah, Salt Lake City, UT, USA.
Prescott G WoodruffDivision of Pulmonary, Critical Care, Allergy, & Sleep Medicine, Department of Medicine, University of California San Francisco, San Francisco, CA, USA.
R Graham BarrDepartment of Medicine, Columbia University Medical Center, New York, NY, USA.
Tuuli LappalainenNew York Genome Center, New York, NY, USA.

Funding

SPIROMICS II: Biological underpinnings of COPD heterogeneity and progressionU01HL137880 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI WOODRUFF, PRESCOTT G · 2017 to 2021
$27.9M
Understanding the Origins of Early COPDR01HL144718 · NHLBI · WEILL MEDICAL COLL OF CORNELL UNIV · PI CURTIS, JEFFREY LOUIS, HAN, MEILAN K · 2020 to 2024
$11.3M
SPIROMICS GIC SupportU24HL141762 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI COUPER, DAVID J, O'NEAL, WANDA K · 2018 to 2022
$7.2M
NHLBI NIH HHS HHSN268200900013CNHLBI NIH HHS HHSN268200900014CNHLBI NIH HHS HHSN268200900015CNHLBI NIH HHS HHSN268200900016CNHLBI NIH HHS HHSN268200900017CNHLBI NIH HHS HHSN268200900018CNHLBI NIH HHS HHSN268200900019CNHLBI NIH HHS HHSN268200900020CNHLBI NIH HHS R01 HL144718NHLBI NIH HHS U01 HL137880NHLBI NIH HHS U24 HL141762
6 · The paper itself

Abstract

backgroundTranscriptomic analysis is common in large cohort studies but is generally restricted to cells in blood, which limits inferences about organs of interest, and direct organ sampling is mostly infeasible in large cohorts. New techniques for RNA-seq from noninvasive biosamples may provide the opportunity to profile transcriptomes of additional tissues for more organ-relevant insights at scale. We investigated the feasibility and utility of hair follicle gene expression profiling in a multi-center study of chronic obstructive pulmonary disease (COPD).

methodsBulk RNA-seq was performed on hair follicles collected in the SubPopulations and InteRmediate Outcome Measures in COPD Study (SPIROMICS), a multi-center longitudinal study of COPD (n = 97). The resulting hair follicle gene expression data were characterized and compared both to gene expression in whole blood and bronchial epithelium previously measured in SPIROMICS and to Genotype-Tissue Expression (GTEx) project tissue gene expression by principal component analysis and single-sample gene enrichment analysis, used to estimate hair follicle cell type proportions, and tested for association with disease-relevant lung phenotypes. eQTL discovery was also performed and colocalization with a genome-wide association study for lung function was tested.

resultsHair follicles reliably produced transcriptomic data of sufficient quality and number for cell type composition, which revealed mostly epithelial and fibroblast cells. Comparison to other tissues previously profiled in SPIROMICS and GTEx project demonstrated transcriptomes from hair follicles were much more similar to those from lung parenchyma than blood. Combining these data with rich clinical, imaging, and genomic profiling in SPIROMICS, we found that they provided an attractive approach for discovery of associations with complex lung phenotypes, particularly of the airways. Finally, we investigated hair follicle genetic architecture through expression quantitative trait locus (eQTL) discovery and demonstrated better colocalization with lung-related genetic associations than blood.

conclusionHere, we demonstrated that RNA-seq applied to hair follicle transcriptomic profiling can be scaled up successfully in a multi-center study to yield inferences not available from blood transcriptomics.

Indexed as

Gene Expression ProfilingHair FolliclePulmonary Disease, Chronic ObstructiveTranscriptomeAgedFemaleGenome-Wide Association StudyHumansLongitudinal StudiesMaleMiddle AgedQuantitative Trait LociHair follicleLungRNA-seq

Identifiers

PMID41366429
PMCPMC12690836

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