title: Prevalence, heritability and genetic correlations of congenital sensorineural deafness and pigmentation phenotypes in the Border Collie.
abstract: The objectives of this study were to estimate prevalence, heritability and genetic correlations of congenital sensorineural deafness (CSD) and pigmentation phenotypes in the Border Collie. Entire litters of Border Collies that presented to the Animal Health Trust (1994-2008) for assessment of hearing status by brain stem auditory evoked response (BAER) at 4-10 weeks of age were included. Heritability and genetic correlations were estimated using residual maximum likelihood (REML). Of 4143 puppies that met the inclusion criteria, 97.6% had normal hearing status, 2.0% were unilaterally deaf and 0.4% were bilaterally deaf. Heritability of deafness as a trichotomous trait (normal/unilaterally deaf/bilaterally deaf) was estimated at 0.42 using multivariate analysis. Genetic correlations of deafness with iris colour and merle coat colour were 0.58 and 0.26, respectively. These results indicate that there is a significant genetic effect on CSD in Border Collies and that some of the genes determining deafness also influence pigmentation phenotypes.
authors.affiliation: Neurology/Neurosurgery Unit, Centre for Small Animal Studies, Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk CB8 7UU, UK. luisa.derisio@aht.org.uk
authors.forename: Luisa
authors.initials: L
authors.lastname: De Risio
authors.forename: Tom
authors.initials: T
authors.lastname: Lewis
authors.forename: Julia
authors.initials: J
authors.lastname: Freeman
authors.forename: Alberta
authors.initials: A
authors.lastname: de Stefani
authors.forename: Lara
authors.initials: L
authors.lastname: Matiasek
authors.forename: Sarah
authors.initials: S
authors.lastname: Blott
mesh_terms: D000818:Animals; D004283:Dog Diseases / Q000453:epidemiology / Q000235:genetics*; D004285:Dogs; D005260:Female; D020022:Genetic Predisposition to Disease; D006200:Hair Color / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000151:congenital / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D006320:Hearing Tests / Q000662:veterinary; D008297:Male; D010641:Phenotype; D015995:Prevalence; D012880:Skin Pigmentation / Q000235:genetics*; D013045:Species Specificity