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Updated: May 28, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Genomics in Equine MEED: Whole-Genome Sequencing and Target Mutation Identification.
Kayden Tanner1, Marshall Mays1, Thu Annelise Nguyen1
1School of Veterinary Medicine, Texas Tech University, Amarillo, TX 79106, USA.
Genetic analysis reveals that cumulative mutations in low-frequency categories contribute to Multisystemic Eosinophilic Epitheliotropic Disease (MEED) in horses, impacting epithelial integrity and immune regulation.
Area of Science:
- Equine genetics
- Veterinary pathology
- Genomics
Background:
- Multisystemic Eosinophilic Epitheliotropic Disease (MEED) is a rare, severe equine disorder.
- Characterized by chronic inflammation, epithelial disruption, and multi-organ involvement.
- The genetic basis of MEED remains undefined.
Purpose of the Study:
- To investigate the genetic underpinnings of MEED using whole-genome sequencing.
- To identify genetic variants associated with the disease in horses.
Main Methods:
- High-depth whole-genome sequencing of one affected horse and 40 controls.
- Variant identification and analysis, focusing on moderate- and high-impact mutations.
- Gene prioritization, pathway analysis, and network analysis.
Main Results:
- Over 6.3 million variants identified; rare and private variants were enriched in the affected horse.
- The affected horse exhibited numerous missense mutations, suggesting distributed protein-altering effects.
- Disruption of cytoskeletal organization, microtubule dynamics, epithelial integrity, and immune regulation pathways were highlighted.
Conclusions:
- Population genomic insights into MEED are provided for the first time.
- A model is supported where cumulative mutations contribute to epithelial instability and inflammation in MEED.
- Findings suggest a link between impaired epithelial barrier function and immune homeostasis in equine disease.
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