Evidence map›Paper›PMID 39676709›Full record

SynthesisArthritis & rheumatology (Hoboken, N.J.)2025

Cross-Phenotype Genome-Wide Association Study on the Shared Genetic Susceptibility to Systemic Sclerosis and Primary Biliary Cholangitis.

Yiming Luo, Atlas Khan, Lili Liu, Cue Hyunkyu Lee, Gabriel J Perreault, Sydney F Pomenti, Pravitt Gourh, Krzysztof Kiryluk, Elana J Bernstein

Abstract readMeta-Analysis
In one paragraph

Synthesis in Arthritis & rheumatology (Hoboken, N.J.), 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. Pooled it
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Yiming LuoColumbia University Irving Medical Center, New York City, New York.
Atlas KhanColumbia University Irving Medical Center, New York City, New York.
Lili LiuColumbia University Irving Medical Center, New York City, New York.
Cue Hyunkyu LeeColumbia University Irving Medical Center, New York City, New York.
Gabriel J PerreaultColumbia University Irving Medical Center, New York City, New York.
Sydney F PomentiColumbia University Irving Medical Center, New York City, New York.
Pravitt GourhNational Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland.ORCID 0000-0002-6488-1850
Krzysztof KirylukColumbia University Irving Medical Center, New York City, New York.
Elana J BernsteinColumbia University Irving Medical Center, New York City, New York.

Funding

Vasculopathy and Systemic Sclerosis-Associated Interstitial Lung DiseaseR01HL164758 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Elana J. Bernstein · 2022 to 2026
$3.5M
Screening Chest CT to Detect Interstitial Lung Disease in Systemic SclerosisK23AR075112 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BERNSTEIN, ELANA · 2019 to 2023
$794k
Uncovering novel mechanisms and potential therapeutic targets for IgA vasculitis through GWAS and systems-level analysis of regulatory networks.K01DK137031 · NIDDK · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Lili Liu · 2023 to 2026
$613k
Multi-Trait Analysis in Large-Scale Biobank Datasets Linked to Electronic Health Records.K99HG013546 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEE, HYUNKYU · 2024 to 2025
$244k
NHGRI NIH HHS K99 HG013546NHLBI NIH HHS R01 HL164758NHLBI NIH HHS R01-HL-164758NIAMS NIH HHS K23 AR075112NIAMS NIH HHS K23-AR-075112NIDDK NIH HHS 1K01DK137031NIDDK NIH HHS K01 DK137031Rheumatology Research Foundation Scientist Development AwardU.S. Department of Defense W81XWH2210163
6 · The paper itself

Abstract

objectiveAn increased risk of primary biliary cholangitis (PBC) has been reported in patients with systemic sclerosis (SSc). Our study aims to investigate the shared genetic susceptibility between the two disorders and to define candidate causal genes using cross-phenotype genome-wide association study (GWAS) meta-analysis.

methodsWe performed cross-phenotype GWAS meta-analysis and Bayesian colocalization analysis for patients with SSc and patients with PBC. We performed both genome-wide and locus-based analysis, including tissue and pathway enrichment analyses, fine-mapping, Bayesian colocalization analyses with expression quantitative trait loci and protein quantitative trait loci (pQTL) datasets, and phenome-wide association studies. Finally, we used an integrative approach to prioritize candidate causal genes from the novel loci.

resultsWe detected a strong genetic correlation between SSc and PBC (global genetic correlation = 0.84, P = 1.7 × 10

conclusionOur study supports a strong shared genetic susceptibility between SSc and PBC. Using cross-phenotype analyses, we have prioritized several novel candidate causal genes and pathways for these disorders.

Indexed as

Genetic Predisposition to DiseaseLiver Cirrhosis, BiliaryScleroderma, SystemicBayes TheoremGenome-Wide Association StudyHumansPhenotypePolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID39676709
PMCPMC12124972

What Socratic 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 Socratic graph.