Evidence map›Paper›PMID 40090204›Full record

ArticleSeminars in arthritis and rheumatism2025

Polygenic risk scores for rheumatoid arthritis and idiopathic pulmonary fibrosis and associations with RA, interstitial lung abnormalities, and quantitative interstitial abnormalities among smokers.

Gregory C McDermott, Matthew Moll, Michael H Cho, Keigo Hayashi, Pierre-Antoine Juge, Tracy J Doyle, Misti L Paudel, Gregory L Kinney, Vanessa L Kronzer, John S Kim and 11 more

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

Article in Seminars in arthritis and rheumatism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Observational
  4. Review
  5. 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.

Gregory C McDermottDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Matthew MollHarvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA; Pulmonary, Allergy, Sleep and Critical Care Medicine Section, Department of Medicine, VA Boston Healthcare System, West Roxbury, MA, USA.
Michael H ChoHarvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Keigo HayashiDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA.
Pierre-Antoine JugeDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA; Université de Paris Cité, INSERM UMR 1152, F-75018 Paris, France; Service de Rhumatologie, Hôpital Bichat-Claude Bernard, AP-HP, F-75018 Paris, France.
Tracy J DoyleHarvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Misti L PaudelDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Gregory L KinneyColorado School of Public Health, Department of Epidemiology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Vanessa L KronzerDivision of Rheumatology, Mayo Clinic, Rochester, MN, USA.
John S KimDivision of Pulmonary and Critical Care Medicine, University of Virginia, Charlottesville, VA, USA.
Lauren A O'KeeffeDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA.
Natalie A DavisDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA.
Elana J BernsteinDivision of Rheumatology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.
Paul F DellaripaDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Elizabeth A ReganDivision of Rheumatology, National Jewish Health, Denver, CO, USA.
Gary M HunninghakeHarvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Edwin K SilvermanHarvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA; Channing Division of Network Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Samuel Y AshDivision of Pulmonary and Critical Care Medicine, South Shore Health, South Weymouth, MA, USA.
Raul San Jose EsteparHarvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
George R WashkoHarvard Medical School, Boston, MA, USA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Jeffrey A SparksDivision of Rheumatology, Inflammation, and Immunity, Brigham and Women's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: jsparks@bwh.harvard.edu.

Funding

Genetic Epidemiology of COPDU01HL089897 · NHLBI · NATIONAL JEWISH HEALTH · PI CRAPO, JAMES D · 2007 to 2021
$56.9M
GENETIC EPIDEMIOLOGY OF COPD (COPD GENE) TASK A: STUDY VISIT 4, COLLECTION OF COPDGENE STUDY DATA ANDBIOSPECIMENS AND OVERSIGHT OF THE COPDGENE STUDY75N92023D00011 · NHLBI · NATIONAL JEWISH HEALTH · PI NEWMAN, LEE S · 2023 to 2025
$29.6M
Genetic Epidemiology of COPDU01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2007 to 2021
$20.7M
(2 of 2) Genetic Epidemiology of COPDR01HL089856 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI SILVERMAN, EDWIN K · 2012 to 2016
$18.9M
VERITY: Value and Evidence in Rheumatology using bioInformaTics, and advanced analYticsP30AR072577 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Daniel Hal Solomon · 2017 to 2026
$9.8M
Joint Biology Consortium Resource-based CenterP30AR070253 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Peter A Nigrovic, Jeffrey Andrew Sparks · 2016 to 2026
$9.4M
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
Rheumatoid Arthritis-Related Autoantibodies, Articular Inflammation, and RA-Associated Interstitial Lung DiseaseR01AR077607 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI SPARKS, JEFFREY ANDREW · 2021 to 2025
$3.7M
Rheumatoid Arthritis-associated Parenchymal Lung Disease: Clinical and Molecular PhenotypesR01HL155522 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI Jeffrey Andrew Sparks, George R Washko · 2022 to 2026
$3.5M
Clinical Implications, Genomics, and Transcriptions of Mucus Plugging in SmokersR01HL149861 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI CHO, MICHAEL H., DIAZ, ALEJANDRO · 2020 to 2023
$3.2M
Immunologic and Clinical Sequelae after COVID-19 in Patients with Systemic Autoimmune Rheumatic DiseasesR01AR080659 · NIAMS · BRIGHAM AND WOMEN'S HOSPITAL · PI Jeffrey Andrew Sparks · 2023 to 2026
$2.9M
Integrative genomic, transcriptomic and proteomic studies of pulmonary function and COPDR01HL153248 · NHLBI · UNIVERSITY OF VIRGINIA · PI CHO, MICHAEL H., MANICHAIKUL, ANI WANG · 2021 to 2024
$2.8M
NHLBI NIH HHS 75N92023D00011NHLBI NIH HHS HHSN268201500014CNHLBI NIH HHS R01 HL089856NHLBI NIH HHS R01 HL135142NHLBI NIH HHS R01 HL149861NHLBI NIH HHS R01 HL153248NHLBI NIH HHS R01 HL155522NHLBI NIH HHS U01 HL089856NHLBI NIH HHS U01 HL089897NIAMS NIH HHS K23 AR075112NIAMS NIH HHS P30 AR070253NIAMS NIH HHS P30 AR072577NIAMS NIH HHS R01 AR077607NIAMS NIH HHS R01 AR080659
6 · The paper itself

Abstract

objectiveGenome-wide association studies (GWAS) facilitate construction of polygenic risk scores (PRSs) for rheumatoid arthritis (RA) and idiopathic pulmonary fibrosis (IPF). We investigated associations of RA and IPF PRSs with RA and high-resolution chest computed tomography (HRCT) parenchymal lung abnormalities.

methodsParticipants in COPDGene, a prospective multicenter cohort of current/former smokers, had chest HRCT at study enrollment. Using genome-wide genotyping, RA and IPF PRSs were constructed using GWAS summary statistics. HRCT imaging underwent visual inspection for interstitial lung abnormalities (ILA) and quantitative CT (QCT) analysis using a machine-learning algorithm that quantified percentage of normal lung, interstitial abnormalities, and emphysema. RA was identified through self-report and DMARD use. We investigated associations of RA and IPF PRSs with RA, ILA, and QCT features using multivariable logistic and linear regression.

resultsWe analyzed 9,230 COPDGene participants (mean age 59.6 years, 46.4 % female, 67.2 % non-Hispanic White, 32.8 % Black/African American). In non-Hispanic White participants, RA PRS was associated with RA diagnosis (OR 1.32 per unit, 95 %CI 1.18-1.49) but not ILA or QCT features. Among non-Hispanic White participants, IPF PRS was associated with ILA (OR 1.88 per unit, 95 %CI 1.52-2.32) and quantitative interstitial abnormalities (adjusted β=+0.50 % per unit, p = 7.3 × 10

conclusionsRA and IPF PRSs were associated with their intended phenotypes among non-Hispanic White participants but performed poorly among Black/African American participants. PRS may have future application to risk stratify for RA diagnosis among patients with ILD or for ILD among patients with RA.

Indexed as

Arthritis, RheumatoidIdiopathic Pulmonary FibrosisLung Diseases, InterstitialSmokingAgedFemaleGenetic Predisposition to DiseaseGenetic Risk ScoreGenome-Wide Association StudyHumansLungMaleMiddle AgedMultifactorial InheritanceProspective StudiesRisk Factors

Identifiers

PMID40090204
PMCPMC12048222

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.