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

ABSTRACT:

Background

Equine 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/objectives

Genetic 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.

Methods

Re

SUBMITTER: Ma Y 

PROVIDER: S-EPMC10800183 | biostudies-literature | 2024 Jan-Feb

REPOSITORIES: biostudies-literature