Evidence map›Paper›PMID 39788104›Full record

ArticleCell genomics2025

Response eQTLs, chromatin accessibility, and 3D chromatin structure in chondrocytes provide mechanistic insight into osteoarthritis risk.

Nicole E Kramer, Seyoun Byun, Philip Coryell, Susan D'Costa, Eliza Thulson, HyunAh Kim, Sylvie M Parkus, Marielle L Bond, Emma R Klein, Jacqueline Shine and 6 more

Abstract read
In one paragraph

Article in Cell genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

18 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Human hip osteoarthritis-associatedbioRxiv : the preprint server for biology · 2026
    Article
  6. Article
  7. Review
  8. Article
  9. Mechanoepigenetics in musculoskeletal disease.Osteoarthritis and cartilage · 2026
    Review
  10. Review
  11. Review
  12. Review
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  14. Review
  15. Article
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors.

Nicole E KramerCurriculum in Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill, NC 27599, USA; Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Seyoun ByunCurriculum in Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill, NC 27599, USA.
Philip CoryellThurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Susan D'CostaThurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Eliza ThulsonCurriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, NC 27599, USA.
HyunAh KimThurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Sylvie M ParkusThurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Marielle L BondCurriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, NC 27599, USA.
Emma R KleinCurriculum in Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill, NC 27599, USA.
Jacqueline ShineThurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA.
Susanna ChubinskayaDepartment of Pediatrics, Rush University Medical Center, Chicago, IL 60612, USA.
Michael I LoveCurriculum in Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Biostatistics, University of North Carolina, Chapel Hill, NC 27599, USA.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Brian O DiekmanThurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA; Joint Department of Biomedical Engineering, University of North Carolina and North Carolina State University, Raleigh, NC 27695, USA. Electronic address: bdiekman@email.unc.edu.
Richard F LoeserThurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA; Division of Rheumatology, Allergy and Immunology, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: richard_loeser@med.unc.edu.
Douglas H PhanstielCurriculum in Bioinformatics and Computational Biology, University of North Carolina, Chapel Hill, NC 27599, USA; Thurston Arthritis Research Center, University of North Carolina, Chapel Hill, NC 27599, USA; Curriculum in Genetics and Molecular Biology, University of North Carolina, Chapel Hill, NC 27599, USA; Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA; Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address: douglas_phanstiel@med.unc.edu.

Funding

Re-Entry Supplement: Investigation of Oral Microbial Enzymes for the Detection and Treatment of Periodontal DiseaseUL1TR002489 · NCATS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI BUSE, JOHN BERNARD, SHAHEEN, NICHOLAS J · 2018 to 2022
$48.6M
Targeted Genetic Analysis of T2D and Quantitative TraitsR01DK072193 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KAREN L. MOHLKE · 2005 to 2026
$11.3M
NRSA IN GENETICST32GM007092 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SEKELSKY, JEFF J. · 1985 to 2019
$5.9M
Integrin Function in CartilageR37AR049003 · NIAMS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI LOESER, RICHARD F · 2012 to 2021
$4.1M
Mechanisms of Dynamic Chromatin Looping During Differentiation - Common Fund Data SupplementR35GM128645 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Douglas H. Phanstiel · 2018 to 2026
$3.4M
A Modular Framework for Accurate, Interpretable, and Reproducible Analysis of Long Read RNA-Seq DataR01HG009937 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Michael Isaiah Love, Robert Patro · 2018 to 2026
$2.8M
UNC Predoc Training Progr in Bioinformatics/Comp BiologyT32GM067553 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ELSTON, TIMOTHY C · 2005 to 2019
$2.5M
Identifying novel osteoarthritis risk genes using GWAS, chondrocyte genomics, and genome editingR01AR079538 · NIAMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI RICHARD F LOESER, Douglas H. Phanstiel · 2022 to 2026
$2.4M
Predoctoral Training Program in Bioinformatics and Computational BiologyT32GM135123 · NIGMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Michael Isaiah Love, William Valdar · 2021 to 2026
$1.7M
Functional interrogation of putative osteoarthritis causal variantsR21AR084104 · NIAMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DIEKMAN, BRIAN O · 2024 to 2025
$371k
The effect of genetic variation on mRNA splicing in chondrocytes responding to cartilage matrix damageF31AR083722 · NIAMS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SEYOUN BYUN · 2024 to 2026
$124k
NCATS NIH HHS UL1 TR002489NHGRI NIH HHS R01 HG009937NIAMS NIH HHS F31 AR083722NIAMS NIH HHS R01 AR079538NIAMS NIH HHS R21 AR084104NIAMS NIH HHS R37 AR049003NIDDK NIH HHS R01 DK072193NIGMS NIH HHS R35 GM128645NIGMS NIH HHS T32 GM007092NIGMS NIH HHS T32 GM067553NIGMS NIH HHS T32 GM135123
6 · The paper itself

Abstract

Osteoarthritis (OA) poses a significant healthcare burden with limited treatment options. While genome-wide association studies (GWASs) have identified over 100 OA-associated loci, translating these findings into therapeutic targets remains challenging. To address this gap, we mapped gene expression, chromatin accessibility, and 3D chromatin structure in primary human articular chondrocytes in both resting and OA-mimicking conditions. We identified thousands of differentially expressed genes, including those associated with differences in sex and age. RNA sequencing in chondrocytes from 101 donors across two conditions uncovered 3,782 unique eGenes, including 420 that exhibited strong and significant condition-specific effects. Colocalization with OA GWAS signals revealed 13 putative OA risk genes, 6 of which have not been previously identified. Chromatin accessibility and 3D chromatin structure provided insights into the mechanisms and conditional specificity of these variants. Our findings shed light on OA pathogenesis and highlight potential targets for therapeutic development.

Indexed as

ChondrocytesChromatinGenome-Wide Association StudyOsteoarthritisQuantitative Trait LociAdultAgedCartilage, ArticularFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedChromatin3D chromatin structurechondrocytechromatin accessibilitycolocalizationeQTL

Identifiers

PMID39788104
PMCPMC11770232

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.