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Genome-wide association study identifies a novel canine glaucoma locus
Saija J Ahonen1, Elina Pietilä, Cathryn S Mellersh
1Department of Veterinary Biosciences and Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
Plos One
|August 17, 2013
Summary
Researchers identified a new genetic locus on canine chromosome 8 associated with glaucoma in Dandie Dinmont Terriers. This discovery advances understanding of glaucoma
Area of Science:
- Genetics
- Ophthalmology
- Veterinary Medicine
Background:
- Glaucoma, a leading cause of blindness, has poorly understood genetic underpinnings, particularly its hereditary forms like primary closed-angle (PCAG), primary open-angle (POAG), and primary congenital glaucoma (PCG).
- Glaucoma affects various dog breeds, including Dandie Dinmont Terriers (DDT), where it manifests as a late-onset condition.
- Ocular abnormalities such as abnormal iridocorneal angles and pectinate ligament dysplasia are prevalent in DDTs, suggesting a potential genetic predisposition to glaucoma.
Purpose of the Study:
- To delineate the clinical characteristics of glaucoma in Dandie Dinmont Terriers.
- To identify the specific genetic cause of glaucoma in this breed.
- To investigate the genetic locus associated with glaucoma in DDTs and its homology to human glaucoma loci.
Main Methods:
- Clinical ophthalmic examinations were conducted on affected and unaffected DDTs.
- Genome-wide association study (GWAS) was performed on 23 affected and 23 control DDTs, followed by fine mapping, replication studies, and candidate gene sequencing.
- DNA was collected from over 400 DDTs for genetic analysis.
Main Results:
- Clinical findings indicated high frequencies of abnormal iridocorneal angles (50%) and pectinate ligament dysplasia (72%) in DDTs, resembling human PCAG.
- A novel 9.5 Mb locus on canine chromosome 8 (CFA8) was identified, with a highly significant associated region (p = 1.63 × 10(-10), OR = 32 for homozygosity).
- No causative variants were found in five candidate genes, suggesting the causative mutation lies elsewhere within the identified CFA8 locus.
Conclusions:
- Ocular abnormalities are common in DDTs, and a novel genetic locus on CFA8 confers the risk for glaucoma.
- The identified canine glaucoma locus shares synteny with a region on human chromosome 14q, which contains loci linked to human POAG and PCG.
- This study establishes a new locus for canine glaucoma, providing a valuable model for further research into the genetic etiology of glaucoma.
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