ArticleBMC genomics2020
Whole genome sequencing identified a 16 kilobase deletion on ECA13 associated with distichiasis in Friesian horses.
Article in BMC genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Targeted allele frequency tuning in breeding populations via alternative optimum contribution selection.Genetics · 2026Article
- A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.Scientific reports · 2025Article
- A genome-wide investigation of insidious uveitis in Appaloosa horses.BMC genomics · 2025Article
- Unveiling Genetic Markers for Milk Yield in Xinjiang Donkeys: A Genome-Wide Association Study and Kompetitive Allele-Specific PCR-Based Approach.International journal of molecular sciences · 2025Article
- Annotation of cis-regulatory-associated histone modifications in the genomes of two Thoroughbred stallions.Frontiers in genetics · 2025Article
- Genomic analysis and prediction of genomic values for distichiasis in Staffordshire bull terriers.Canine medicine and genetics · 2023Article
- Longitudinal Training and Workload Assessment in Young Friesian Stallions in Relation to Fitness: Part 1.Animals : an open access journal from MDPI · 2023Article
- Heritability estimates of distichiasis in Staffordshire bull terriers using pedigrees and genome-wide SNP data.Acta veterinaria Scandinavica · 2022Article
- Decoding the Equine Genome: Lessons from ENCODE.Genes · 2021Review
- "Adopt-a-Tissue" Initiative Advances Efforts to Identify Tissue-Specific Histone Marks in the Mare.Frontiers in genetics · 2021Article
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12 authors.
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Abstract
backgroundDistichiasis, an ocular disorder in which aberrant cilia (eyelashes) grow from the opening of the Meibomian glands of the eyelid, has been reported in Friesian horses. These misplaced cilia can cause discomfort, chronic keratitis, and corneal ulceration, potentially impacting vision due to corneal fibrosis, or, if secondary infection occurs, may lead to loss of the eye. Friesian horses represent the vast majority of reported cases of equine distichiasis, and as the breed is known to be affected with inherited monogenic disorders, this condition was hypothesized to be a simply inherited Mendelian trait.
resultsA genome wide association study (GWAS) was performed using the Axiom 670 k Equine Genotyping array (MNEc670k) utilizing 14 cases and 38 controls phenotyped for distichiasis. An additive single locus mixed linear model (EMMAX) approach identified a 1.83 Mb locus on ECA5 and a 1.34 Mb locus on ECA13 that reached genome-wide significance (p
conclusionsThis study identified a 16 kb deletion on ECA13 in an intergenic region that was associated with distichiasis in Friesian horses. Further functional analysis in relevant tissues from cases and controls will help to clarify the precise role of this deletion in normal and abnormal eyelash development and investigate the hypothesis of incomplete penetrance.
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