title: Genome-wide association study in Dachshund: identification of a major locus affecting intervertebral disc calcification.
abstract: Intervertebral disc calcification and herniation commonly affects Dachshund where the predisposition is caused by an early onset degenerative process resulting in disc calcification. A continuous spectrum of disc degeneration is seen within and among dog breeds, suggesting a multifactorial etiology. The number of calcified discs at 2 years of age determined by a radiographic evaluation is a good indicator of the severity of disc degeneration and thus serves as a measure for the risk of developing intervertebral disc herniation. The aim of the study was to identify genetic variants associated with intervertebral disc calcification in Dachshund through a genome-wide association (GWA) study. Based on thorough radiographic examinations, 48 cases with ≥ 6 disc calcifications or surgically treated for disc herniation and 46 controls with 0-1 disc calcifications were identified. GWA using the Illumina CanineHD BeadChip identified a locus on chromosome 12 from 36.8 to 38.6 Mb with 36 markers reaching genome-wide significance (P(genome) = 0.00001-0.026). This study suggests that a major locus on chromosome 12 harbors genetic variations affecting the development of intervertebral disc calcification in Dachshund.
authors.affiliation: Department of Basic Animal and Veterinary Sciences, Faculty of Life Sciences, University of Copenhagen, Grønnegårdsvej 3, 1870 Frederiksberg C, Denmark.
authors.forename: Mette Sloth
authors.initials: MS
authors.lastname: Mogensen
authors.forename: Peter
authors.initials: P
authors.lastname: Karlskov-Mortensen
authors.forename: Helle Friis
authors.initials: HF
authors.lastname: Proschowsky
authors.forename: Frode
authors.initials: F
authors.lastname: Lingaas
authors.forename: Anu
authors.initials: A
authors.lastname: Lappalainen
authors.forename: Hannes
authors.initials: H
authors.lastname: Lohi
authors.forename: Vibeke Frøkjær
authors.initials: VF
authors.lastname: Jensen
authors.forename: Merete
authors.initials: M
authors.lastname: Fredholm
mesh_terms: D000818:Animals; D002114:Calcinosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000662:veterinary*; D004283:Dog Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D004285:Dogs; D056426:Genetic Loci / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics*; D055106:Genome-Wide Association Study; D055959:Intervertebral Disc Degeneration / Q000000981:diagnostic imaging / Q000235:genetics / Q000662:veterinary*; D020411:Oligonucleotide Array Sequence Analysis; D011859:Radiography
chemical_list: D005819:Genetic Markers