A Genomic Study of Myxomatous Mitral Valve Disease in Cavalier King Charles Spaniels

• DOI: 10.3390/ani10101895
• Publication Date: 2020-10-16T12:56:48Z
• Authors: Arianna Bionda; Matteo Cortellari; Mara Bagardi; Stefano Frattini; Alessio Negro; Chiara Locatelli; Paola Giuseppina ...; Paola Crepaldi
• Keywords: SNP

Cavalier King Charles spaniels (CKCSs) show the earliest onset and highest incidence of myxomatous mitral valve disease (MMVD). Previous studies have suggested a polygenic inheritance in this breed revealed an association with regions on canine chromosomes 13 14. Following clinical echocardiographic examinations, 33 not-directly-related CKCSs were selected classified as cases (n = 16) if MMVD was present before 5 years age or controls 17) no very mild after age. DNA extracted from whole blood genotyped Canine 230K SNP BeadChip instrument. Cases compared three complementary genomic analyses (Wright’s fixation index—FST, cross-population extended haplotype homozygosity—XP-EHH, runs homozygosity—ROH) to identify differences terms heterozygosity homozygosity. The top 1% single-nucleotide polymorphisms (SNPs) mapped, genes thoroughly investigated. Ten consensus found localized 3-11-14-19, partially confirming previous studies. HEPACAM2, CDK6, FAH genes, related transforming growth factor β (TGF-β) pathway heart development, also emerged ROH analysis. In conclusion, work expands knowledge genetic basis by identifying involved early CKCSs.