Evidence map›Paper›PMID 39006426›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Cross-Phenotype GWAS Supports 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 readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

9 authors.

Yiming LuoDivision of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Atlas KhanDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Lili LiuDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Cue Hyunkyu LeeDepartment of Biostatistics, Mailman School of Public Health, Columbia University Irving Medical Center, New York, NY.
Gabriel J PerreaultDivision of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Sydney F PomentiDivision of Digestive and Liver Diseases, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Pravitt GourhScleroderma Genomics and Health Disparities Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD.
Krzysztof KirylukDivision of Nephrology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.
Elana J BernsteinDivision of Rheumatology, Department of Medicine, Columbia University Irving Medical Center, New York, NY.

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
NHLBI NIH HHS R01 HL164758NIAMS NIH HHS K23 AR075112NIDDK NIH HHS K01 DK137031
6 · The paper itself

Abstract

Objective: An 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 GWAS meta-analysis. Methods: We performed cross-phenotype GWAS meta-analysis and colocalization analysis for SSc and PBC. We performed both genome-wide and locus-based analysis, including tissue and pathway enrichment analyses, fine-mapping, colocalization analyses with expression quantitative trait loci (eQTL) and protein quantitative trait loci (pQTL) datasets, and phenome-wide association studies (PheWAS). Finally, we used an integrative approach to prioritize candidate causal genes from the novel loci. Results: We detected a strong genetic correlation between SSc and PBC (rg = 0.84, p = 1.7 × 10 Conclusion: Our study supports a strong shared genetic susceptibility between SSc and PBC. Through cross-phenotype analyses, we have prioritized several novel candidate causal genes and pathways for these disorders.

Identifiers

PMID39006426
PMCPMC11245064

What Socratic 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 Socratic graph.