Evidence map›Paper›PMID 39418199›Full record

ArticleRheumatology (Oxford, England)2025

FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic sclerosis-associated interstitial lung disease.

Elana J Bernstein, Francesco Boin, Brett Elicker, Yiming Luo, Yawen Ren, Meng Zhang, John Varga, Shervin Assassi

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

Article in Rheumatology (Oxford, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

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

  1. Assessing theRMD open · 2025
    Pooled it
  2. Article
  3. Review
  4. 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

8 authors.

Elana J BernsteinDivision of Rheumatology, Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.ORCID 0000-0001-5560-6390
Francesco BoinDivision of Rheumatology, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Brett ElickerDepartment of Radiology, University of California, San Francisco, San Francisco, CA, USA.
Yiming LuoDivision of Rheumatology, Department of Medicine, Columbia University Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, NY, USA.
Yawen RenDivision of Rheumatology, Department of Medicine, University of Colorado, Denver, CO, USA.
Meng ZhangDivision of Rheumatology, Department of Medicine, University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA.
John VargaDivision of Rheumatology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.
Shervin AssassiDivision of Rheumatology, Department of Medicine, University of Texas Health Science Center at Houston (UTHealth Houston), Houston, TX, USA.ORCID 0000-0002-8059-9978

Funding

Vasculopathy and Systemic Sclerosis-Associated Interstitial Lung DiseaseR01HL164758 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Elana J. Bernstein · 2022 to 2026
$3.5M
CFlm25 mediated alternative polyadenylation regulates fibrosis in systemic sclerosisR01AR073284 · NIAMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI ASSASSI, SHERVIN, MILLS, TINGTING WENG · 2019 to 2023
$1.7M
Interferon Regulatory Factor 7 Links Interferon Pathway Activation to the Exaggerates Fibrotic Response in Systemic SclerosisR01AR081280 · NIAMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI Shervin Assassi, Minghua Wu · 2023 to 2026
$1.1M
Screening Chest CT to Detect Interstitial Lung Disease in Systemic SclerosisK23AR075112 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BERNSTEIN, ELANA · 2019 to 2023
$794k
Combined Optical Coherence Elastography and Tomography for Assessing Skin Involvement in Systemic SclerosisR33AR078078 · NIAMS · UNIVERSITY OF TEXAS HLTH SCI CTR HOUSTON · PI ASSASSI, SHERVIN, LARIN, KIRILL V · 2023 to 2023
$389k
Boehringer IngelheimDepartment of Defence W81XWH-21-1-0768Department of Defence W81XWH-22-1-0162Department of Defence W81XWH-22-1-0163NHLBI NIH HHS R01 HL164758NHLBI NIH HHS R01-HL-164758NIAMS NIH HHS K23 AR075112NIAMS NIH HHS K23-AR-075112NIAMS NIH HHS R01 AR073284NIAMS NIH HHS R01 AR081280NIAMS NIH HHS R01AR081280NIAMS NIH HHS R33 AR078078NIAMS NIH HHS R33AR078078NIH HHS
6 · The paper itself

Abstract

objectivesThe MUC5B promoter single nucleotide polymorphism (SNP) rs35705950 has been associated with idiopathic pulmonary fibrosis (IPF) and RA-related interstitial lung disease (ILD), but not with SSc-ILD. We hypothesized that the MUC5B promoter polymorphism or other IPF susceptibility loci are associated with an increased risk for the uncommon SSc-usual interstitial pneumonia (UIP) endophenotype, rather than SSc-ILD in general.

methodsWe performed a cross-sectional study of SSc-ILD patients from four US Scleroderma Programs to investigate the frequency of MUC5B rs35705950 and 12 additional IPF susceptibility loci. SSc-ILD patients were stratified by high resolution chest CT (HRCT) imaging findings into UIP and non-UIP groups. Analysis of HRCTs performed by a thoracic radiologist blinded to participants' characteristics classified each scan as definite UIP, probable UIP, indeterminate or alternative diagnosis, according to American Thoracic Society criteria.

resultsFour-hundred and eighty-nine SSc-ILD patients were included; 80% were female and 75% were White. Twenty-three (4.7%) patients had a definite UIP pattern. The MUC5B SNP rs35705950 was not associated with a definite UIP pattern in SSc-ILD. In contrast, patients carrying two copies of the IPF risk gene FAM13A minor allele rs2609255 had significantly higher odds of a definite UIP pattern compared with the other patterns (odds ratio 3.40, 95% CI 1.19-9.70), and compared with an alternative diagnosis (odds ratio 3.65, 95% CI 1.25-10.65).

conclusionWe demonstrated a novel association between FAM13A and SSc-UIP. Contrary to IPF and RA-ILD, the MUC5B promoter polymorphism was not associated with a definite UIP pattern in SSc-ILD.

Indexed as

GTPase-Activating ProteinsLung Diseases, InterstitialMucin-5BPolymorphism, Single NucleotideScleroderma, SystemicAgedCross-Sectional StudiesFemaleGenetic Predisposition to DiseaseHumansIdiopathic Pulmonary FibrosisMaleMiddle AgedPromoter Regions, GeneticTomography, X-Ray ComputedFAM13A protein, humanGTPase-Activating ProteinsMUC5B protein, humanMucin-5BFAM13Ainterstitial lung diseaseMUC5Bsystemic sclerosisusual interstitial pneumonia

Identifiers

PMID39418199
PMCPMC12695041

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.