Genome-wide association study in Dachshund: identification of a major locus affecting intervertebral disc calcification

Mette Sloth Mogensen; Peter Karlskov-Mortensen; Helle Friis Proschowsky; Frode Lingaas; Anu Lappalainen; Hannes Lohi; Vibeke Frøkjær Jensen; Merete Fredholm

doi:10.1093/jhered/esr021

Genome-wide association study in Dachshund: identification of a major locus affecting intervertebral disc calcification

Mette Sloth Mogensen, Peter Karlskov-Mortensen, Helle Friis Proschowsky, Frode Lingaas, Anu Lappalainen, Hannes Lohi, Vibeke Frøkjær Jensen, Merete Fredholm

28 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Journal of Heredity
Vol/bind	102
Udgave nummer	Suppl. 1
Sider (fra-til)	S81-S86
Antal sider	6
ISSN	0022-1503
DOI	https://doi.org/10.1093/jhered/esr021
Status	Udgivet - 2011

Adgang til dokumentet

10.1093/jhered/esr021

Citationsformater

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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.",

author = "Mogensen, {Mette Sloth} and Peter Karlskov-Mortensen and Proschowsky, {Helle Friis} and Frode Lingaas and Anu Lappalainen and Hannes Lohi and Jensen, {Vibeke Fr{\o}kj{\ae}r} and Merete Fredholm",

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TY - JOUR

T1 - Genome-wide association study in Dachshund

T2 - identification of a major locus affecting intervertebral disc calcification

AU - Mogensen, Mette Sloth

AU - Karlskov-Mortensen, Peter

AU - Proschowsky, Helle Friis

AU - Lingaas, Frode

AU - Lappalainen, Anu

AU - Lohi, Hannes

AU - Jensen, Vibeke Frøkjær

AU - Fredholm, Merete

PY - 2011

Y1 - 2011

N2 - 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.

AB - 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.

U2 - 10.1093/jhered/esr021

DO - 10.1093/jhered/esr021

M3 - Journal article

C2 - 21846751

SN - 0022-1503

VL - 102

SP - S81-S86

JO - Journal of Heredity

JF - Journal of Heredity

IS - Suppl. 1

ER -