Evidence map›Paper›PMID 41813921›Full record

ArticleScientific reports2026

A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers.

Emily Brown, Scarlett Varney, Amy Young, Zena Wolf, Oded Foreman, Claire M Wade, Angela Hughes, Anita Oberbauer, Noa Safra, Kerstin Lindblad-Toh and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2026. 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

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

12 authors.

Emily Brown *Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, USA.
Scarlett Varney *Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, USA.
Amy YoungCenter for Equine Health, School of Veterinary Medicine, University of California, Davis, CA, USA.
Zena WolfDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, USA.
Oded ForemanGenentech, South San Francisco, CA, USA.
Claire M WadeSchool of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.
Angela HughesDepartment of Animal Science, University of California, Davis, CA, USA.
Anita OberbauerDepartment of Animal Science, University of California, Davis, CA, USA.
Noa SafraZoetis, Parsippany, NJ, USA.
Kerstin Lindblad-TohDepartment of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
Shelley BurtonDepartment of Pathology and Microbiology, Atlantic Veterinary College, University of Prince Edward Island, Charlottetown, Canada.
Danika BannaschDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA, USA. dlbannasch@ucdavis.edu.

Funding

Comparative Medical Science Training ProgramT32OD011147 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI JEROEN SAEIJ, Sara Michelle Thomasy · 2012 to 2026
$5.5M
American Kennel Club Canine Health Foundation Acorn 01233-AAmerican Kennel Club Canine Health Foundation Nova Scotia Duck Tolling Retriever Club of America (Clinician Scientist Funding)Center for Companion Animal Health, University of California, Davis 2010-01-FMorris Animal Foundation D08CA-402NIH HHS T32 OD010931 Predoctoral Institutional GrantNIH HHS T32 OD011147NIH HHS T32 OD 011147 Comparative Medical Science Training ProgramTorsten Söderbergs Stiftelse Academy Professor in Medicine 2024
6 · The paper itself

Abstract

Addison's disease (AD) results in glucocorticoid and mineralocorticoid deficiencies and is often immune-mediated. While AD is uncommon in dogs, Nova Scotia Duck Tolling Retrievers (NSDTRs) exhibit increased incidence, suggesting genetic predisposition. Detailed clinical evaluation of 24 juvenile-onset cases revealed that while all dogs presented with adrenal insufficiency, at least 10 dogs (41.7%) had concurrent autoimmune conditions. This suggests juvenile-onset AD in NSDTRs represents part of a broader multiple autoimmune syndrome (MAS) with variable expressivity. Strikingly, NSDTRs affected by juvenile-onset AD had severely decreased lifespans, with a median survival of 2 years despite appropriate treatment. Genome-wide association identified a significant association on chromosome 27 (chr27:29,724,286, p = 6.96 × 10

Indexed as

Addison DiseaseAutoimmune DiseasesDog DiseasesAnimalsDogsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyMaleMutation, MissenseNova ScotiaCanineGWASHypoadrenocorticismInherited diseaseJuvenile

Identifiers

PMID41813921
PMCPMC13103380

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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.