Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles Spaniels

TY - JOUR

T1 - Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles Spaniels

AU - Madsen, Majbritt Busk

AU - Olsen, Lisbeth Høier

AU - Häggström, Jens

AU - Höglund, Katja

AU - Ljungvall, Ingrid

AU - Falk, Bo Torkel

AU - Wess, Gerhard

AU - Stephenson, Hannah

AU - Dukes-McEwan, Joanna

AU - Chetboul, Valérie

AU - Gouni, Vassilki

AU - Proschowsky, Helle Friis

AU - Cirera Salicio, Susanna

AU - Karlskov-Mortensen, Peter

AU - Fredholm, Merete

PY - 2011

Y1 - 2011

N2 - Myxomatous mitral valve disease (MMVD) is the most common heart disease in dogs. It is characterized by chronic progressive degenerative lesions of the mitral valve. The valve leaflets become thickened and prolapse into the left atrium resulting in mitral regurgitation (MR). MMVD is most prevalent in small to medium sized dog breeds, Cavalier King Charles Spaniels (CKCS) in particular. The onset of MMVD is highly age dependent, and at the age of 10 years, nearly all CKCS are affected. The incidence of a similar disease in humans-mitral valve prolapse-is 1-5%. By defining CKCSs with an early onset of MMVD as cases and old dogs with no or mild signs of MMVD as controls, we conducted a genome-wide association study (GWAS) to identify loci associated with development of MMVD. We have identified a 1.58 Mb region on CFA13 (P(genome) = 4.0 × 10(-5)) and a 1.68 Mb region on CFA14 (P(genome) = 7.9 × 10(-4)) associated with development of MMVD. This confirms the power of using the dog as a model to uncover potential candidate regions involved in the molecular mechanisms behind complex traits.

AB - Myxomatous mitral valve disease (MMVD) is the most common heart disease in dogs. It is characterized by chronic progressive degenerative lesions of the mitral valve. The valve leaflets become thickened and prolapse into the left atrium resulting in mitral regurgitation (MR). MMVD is most prevalent in small to medium sized dog breeds, Cavalier King Charles Spaniels (CKCS) in particular. The onset of MMVD is highly age dependent, and at the age of 10 years, nearly all CKCS are affected. The incidence of a similar disease in humans-mitral valve prolapse-is 1-5%. By defining CKCSs with an early onset of MMVD as cases and old dogs with no or mild signs of MMVD as controls, we conducted a genome-wide association study (GWAS) to identify loci associated with development of MMVD. We have identified a 1.58 Mb region on CFA13 (P(genome) = 4.0 × 10(-5)) and a 1.68 Mb region on CFA14 (P(genome) = 7.9 × 10(-4)) associated with development of MMVD. This confirms the power of using the dog as a model to uncover potential candidate regions involved in the molecular mechanisms behind complex traits.

KW - Animals

KW - Chromosome Mapping

KW - Dog Diseases

KW - Dogs

KW - Europe

KW - Genome-Wide Association Study

KW - Genotype

KW - Mitral Valve Prolapse

KW - Polymorphism, Single Nucleotide

KW - Species Specificity

U2 - 10.1093/jhered/esr041

DO - 10.1093/jhered/esr041

M3 - Journal article

C2 - 21846748

SN - 0022-1503

VL - 102

SP - S62-S67

JO - Journal of Heredity

JF - Journal of Heredity

IS - Suppl. 1

ER -