ArticlePLoS genetics2012
Variation in genes related to cochlear biology is strongly associated with adult-onset deafness in border collies.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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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.
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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.
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Who cites it
18 citing papers in PubMed, 26 citations in OpenAlex.
- The ubiquitin-proteasome system and proteostasis in the cochlea and sensorineural hearing disorders.Molecular biomedicine · 2026Review
- Application of Next-Generation Sequencing (NGS) Techniques for Selected Companion Animals.Animals : an open access journal from MDPI · 2024Review
- The cochlea is built to last a lifetime.Hearing research · 2023Review
- Characterization of host factors associated with the internal ribosomal entry sites of foot-and-mouth disease and classical swine fever viruses.Scientific reports · 2022Article
- Early onset adult deafness in the Rhodesian Ridgeback dog is associated with an in-frame deletion in the EPS8L2 gene.PloS one · 2022Article
- Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss.Human genetics · 2021Article
- Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.Clinical genetics · 2021Article
- A Missense Mutation in theGenes · 2021Article
- Genome-Wide Association Studies Reveal Neurological Genes for Dog Herding, Predation, Temperament, and Trainability Traits.Frontiers in veterinary science · 2021Article
- A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed.Canadian journal of veterinary research = Revue canadienne de recherche veterinaire · 2019Article
- Sex bias in basic and preclinical age-related hearing loss research.Biology of sex differences · 2018Review
- A comparison of the brainstem auditory evoked response in healthy ears of unilaterally deaf dogs and bilaterally hearing dogs.Veterinary research communications · 2017Article
- Progressive Hearing Loss in Mice Carrying a Mutation in Usp53.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2015Article
- The Genetics of Deafness in Domestic Animals.Frontiers in veterinary science · 2015Review
- Quantitative trait loci on chromosome 5 for susceptibility to frequency-specific effects on hearing in DBA/2J mice.Experimental animals · 2015Article
- Domestic dogs and cancer research: a breed-based genomics approach.ILAR journal · 2014Review
- An analysis of the inheritance pattern of an adult-onset hearing loss in Border Collie dogs.Canine genetics and epidemiology · 2014Article
- Insights into morphology and disease from the dog genome project.Annual review of cell and developmental biology · 2014Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
Domestic dogs can suffer from hearing losses that can have profound impacts on working ability and quality of life. We have identified a type of adult-onset hearing loss in Border Collies that appears to have a genetic cause, with an earlier age of onset (3-5 years) than typically expected for aging dogs (8-10 years). Studying this complex trait within pure breeds of dog may greatly increase our ability to identify genomic regions associated with risk of hearing impairment in dogs and in humans. We performed a genome-wide association study (GWAS) to detect loci underlying adult-onset deafness in a sample of 20 affected and 28 control Border Collies. We identified a region on canine chromosome 6 that demonstrates extended support for association surrounding SNP Chr6.25819273 (p-value = 1.09 × 10(-13)). To further localize disease-associated variants, targeted next-generation sequencing (NGS) of one affected and two unaffected dogs was performed. Through additional validation based on targeted genotyping of additional cases (n = 23 total) and controls (n = 101 total) and an independent replication cohort of 16 cases and 265 controls, we identified variants in USP31 that were strongly associated with adult-onset deafness in Border Collies, suggesting the involvement of the NF-κB pathway. We found additional support for involvement of RBBP6, which is critical for cochlear development. These findings highlight the utility of GWAS-guided fine-mapping of genetic loci using targeted NGS to study hereditary disorders of the domestic dog that may be analogous to human disorders.
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Registered trials
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.