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

Majbritt Busk Madsen; Lisbeth Høier Olsen; Jens Häggström; Katja Höglund; Ingrid Ljungvall; Bo Torkel Falk; Gerhard Wess; Hannah Stephenson; Joanna Dukes-McEwan; Valérie Chetboul; Vassilki Gouni; Helle Friis Proschowsky; Susanna Cirera Salicio; Peter Karlskov-Mortensen; Merete Fredholm

doi:10.1093/jhered/esr041

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

Majbritt Busk Madsen, Lisbeth Høier Olsen, Jens Häggström, Katja Höglund, Ingrid Ljungvall, Bo Torkel Falk, Gerhard Wess, Hannah Stephenson, Joanna Dukes-McEwan, Valérie Chetboul, Vassilki Gouni, Helle Friis Proschowsky, Susanna Cirera Salicio, Peter Karlskov-Mortensen, Merete Fredholm

41 Citations (Scopus)

Abstract

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.

Original language	English
Journal	Journal of Heredity
Volume	102
Issue number	Suppl. 1
Pages (from-to)	S62-S67
Number of pages	6
ISSN	0022-1503
DOIs	https://doi.org/10.1093/jhered/esr041
Publication status	Published - 2011

Keywords

Animals
Chromosome Mapping
Dog Diseases
Dogs
Europe
Genome-Wide Association Study
Genotype
Mitral Valve Prolapse
Polymorphism, Single Nucleotide
Species Specificity

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Madsen, M. B., Olsen, L. H., Häggström, J., Höglund, K., Ljungvall, I., Falk, B. T., Wess, G., Stephenson, H., Dukes-McEwan, J., Chetboul, V., Gouni, V., Proschowsky, H. F., Cirera Salicio, S., Karlskov-Mortensen, P., & Fredholm, M. (2011). Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles Spaniels. Journal of Heredity, 102(Suppl. 1), S62-S67. https://doi.org/10.1093/jhered/esr041

Madsen, MB , Olsen, LH, Häggström, J, Höglund, K, Ljungvall, I, Falk, BT, Wess, G, Stephenson, H, Dukes-McEwan, J, Chetboul, V, Gouni, V, Proschowsky, HF , Cirera Salicio, S , Karlskov-Mortensen, P & Fredholm, M 2011, 'Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles Spaniels', Journal of Heredity, vol. 102, no. Suppl. 1, pp. S62-S67. https://doi.org/10.1093/jhered/esr041

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abstract = "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.",

keywords = "Animals, Chromosome Mapping, Dog Diseases, Dogs, Europe, Genome-Wide Association Study, Genotype, Mitral Valve Prolapse, Polymorphism, Single Nucleotide, Species Specificity",

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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 -

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

Abstract

Keywords

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