Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles Spaniels
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Identification of 2 loci associated with development of myxomatous mitral valve disease in Cavalier King Charles Spaniels. / Madsen, Majbritt Busk; Olsen, Lisbeth Høier; Häggström, Jens; Höglund, Katja; Ljungvall, Ingrid; Falk, Bo Torkel; Wess, Gerhard; Stephenson, Hannah; Dukes-McEwan, Joanna; Chetboul, Valérie; Gouni, Vassilki; Proschowsky, Helle Friis; Cirera Salicio, Susanna; Karlskov-Mortensen, Peter; Fredholm, Merete.
In: Journal of Heredity, Vol. 102, No. Suppl. 1, 2011, p. S62-S67.Research output: Contribution to journal › Journal article › Research › peer-review
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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
VL - 102
SP - S62-S67
JO - Journal of Heredity
JF - Journal of Heredity
SN - 0022-1503
IS - Suppl. 1
ER -
ID: 34160541