Evidence map›Paper›PMID 37937700›Full record

ArticleJournal of veterinary internal medicine

Genetic polymorphisms in vitamin E transport genes as determinants for risk of equine neuroaxonal dystrophy.

Yunzhuo Ma, Sichong Peng, Callum G Donnelly, Sharmila Ghosh, Andrew D Miller, Kevin Woolard, Carrie J Finno

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of veterinary internal medicine. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 34% of its field
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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

7 authors at 3 institutions in 1 country.

Yunzhuo MaDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California 95616, USA.
Sichong PengDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California 95616, USA.
Callum G DonnellyDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California 95616, USA.ORCID https://orcid.org/0000-0003-1503-1419
Sharmila GhoshDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California 95616, USA.
Andrew D MillerDepartment of Biomedical Sciences, Section of Anatomic Pathology, Cornell University College of Veterinary Medicine, Ithaca, New York 14853, USA.
Kevin WoolardDepartment of Pathology and Immunology, School of Veterinary Medicine, University of California-Davis, Davis, California 95616, USA.
Carrie J FinnoDepartment of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California 95616, USA.ORCID https://orcid.org/0000-0001-5924-0234
University of California, Davis · USCornell University · USEclipse Bioinnovations (United States) · US

Funding

NCATS NIH HHS L40 TR001136
6 · The paper itself

Abstract

backgroundEquine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder associated with vitamin E deficiency. In humans, polymorphisms in genes involved in vitamin E uptake and distribution determines individual vitamin E requirements. HYPOTHESIS/

objectivesGenetic polymorphisms in genes involved in vitamin E metabolism would be associated with an increased risk of eNAD/EDM in Quarter Horses (QHs). ANIMALS: Whole-genome sequencing: eNAD/EDM affected (n = 9, postmortem [PM]-confirmed) and control (n = 32) QHs. VALIDATION: eNAD/EDM affected (n = 39, 23-PM confirmed) and control (n = 68, 7-PM confirmed) QHs. Allele frequency (AF): Publicly available data from 504 horses across 47 breeds.

methodsRetrospective, case control study. Whole-genome sequencing was performed and genetic variants identified within 28 vitamin E candidate genes. These variants were subsequently genotyped in the validation cohort.

resultsThirty-nine confirmed variants in 15 vitamin E candidate genes were significantly associated with eNAD/EDM (P < .01). In the validation cohort, 2 intronic CD36 variants (chr4:726485 and chr4:731082) were significantly associated with eNAD/EDM in clinical (P = 2.78 × 10 CONCLUSIONS AND CLINICAL IMPORTANCE: Many PM-confirmed cases of eNAD/EDM were wild-type for the 2 intronic CD36 SNPs, suggesting either a false positive association or genetic heterogeneity of eNAD/EDM within the QH breed.

Indexed as

Horse DiseasesNeuroaxonal DystrophiesNeurodegenerative DiseasesAnimalsAtaxiaCase-Control StudiesHorsesHumansPolymorphism, Single NucleotideRetrospective StudiesVitamin EVitamin Eataxiaequine degenerative myeloencephalopathygeneticshorse

Identifiers

PMID37937700
PMCPMC10800183
OpenAlexW4388499598

What OpenQuestion holds

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LicenceCC BY
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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.